| NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe) |
single nucleotide variant |
Fanconi anemia [RCV000549476]|Fanconi anemia complementation group I [RCV002483356]|not provided [RCV004691847] |
Chr15:89306130 [GRCh38]
Chr15:89849361 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.601A>G (p.Met201Val) |
single nucleotide variant |
Fanconi anemia [RCV000529589]|Fanconi anemia complementation group I [RCV001117326]|Inborn genetic diseases [RCV002528304] |
Chr15:89263958 [GRCh38]
Chr15:89807189 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000758337]|not provided [RCV000522166] |
Chr15:89316800 [GRCh38]
Chr15:89860031 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| FANCI, 2T-C |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000001022] |
Chr15:15q25-q26 |
pathogenic |
| NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000001023] |
Chr15:89315319 [GRCh38]
Chr15:89858550 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) |
single nucleotide variant |
FANCI-related disorder [RCV004754232]|Fanconi anemia [RCV001384910]|Fanconi anemia complementation group I [RCV000001024]|not provided [RCV000584965] |
Chr15:89315318 [GRCh38]
Chr15:89858549 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic|uncertain significance |
| FANCI, IVS31AS, A-G, -88 |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000001025] |
Chr15:15q25-q26 |
pathogenic |
| NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) |
single nucleotide variant |
Fanconi anemia [RCV002536730]|Fanconi anemia complementation group I [RCV000778449]|not provided [RCV004588239] |
Chr15:89294967 [GRCh38]
Chr15:89838198 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) |
single nucleotide variant |
Fanconi anemia [RCV001239482]|Fanconi anemia complementation group I [RCV000778450] |
Chr15:89303898 [GRCh38]
Chr15:89847129 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1366A>C (p.Ile456Leu) |
single nucleotide variant |
Fanconi anemia [RCV001907799] |
Chr15:89278759 [GRCh38]
Chr15:89821990 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.286dup (p.Glu96fs) |
duplication |
not provided [RCV000727622] |
Chr15:89260839..89260840 [GRCh38]
Chr15:89804070..89804071 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val) |
single nucleotide variant |
FANCI-related disorder [RCV003979941]|Fanconi anemia [RCV000547520]|not provided [RCV003403255]|not specified [RCV001194160] |
Chr15:89315330 [GRCh38]
Chr15:89858561 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.993G>A (p.Lys331=) |
single nucleotide variant |
Fanconi anemia [RCV000544746]|Fanconi anemia complementation group I [RCV002497054] |
Chr15:89274185 [GRCh38]
Chr15:89817416 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.288+3A>G |
single nucleotide variant |
Fanconi anemia [RCV000546775]|not specified [RCV004689780] |
Chr15:89260846 [GRCh38]
Chr15:89804077 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1992+10T>C |
single nucleotide variant |
FANCI-related disorder [RCV003915483]|Fanconi anemia [RCV001444308]|Fanconi anemia complementation group I [RCV002497053] |
Chr15:89291724 [GRCh38]
Chr15:89834955 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2170-4T>C |
single nucleotide variant |
Fanconi anemia [RCV000525644] |
Chr15:89292938 [GRCh38]
Chr15:89836169 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.179C>G (p.Ala60Gly) |
single nucleotide variant |
Fanconi anemia [RCV000547742]|Fanconi anemia complementation group I [RCV005010489] |
Chr15:89260734 [GRCh38]
Chr15:89803965 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] |
Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3 |
pathogenic |
| GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 |
copy number gain |
See cases [RCV000052347] |
Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3 |
pathogenic |
| GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 |
copy number gain |
See cases [RCV000052352] |
Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3 |
pathogenic |
| NM_001113378.1(FANCI):c.1467C>T (p.Ser489=) |
single nucleotide variant |
Malignant melanoma [RCV000070944] |
Chr15:89281255 [GRCh38]
Chr15:89824486 [GRCh37]
Chr15:87625490 [NCBI36]
Chr15:15q26.1 |
not provided |
| NM_001113378.1(FANCI):c.2895C>T (p.Ser965=) |
single nucleotide variant |
Malignant melanoma [RCV000070945] |
Chr15:89301331 [GRCh38]
Chr15:89844562 [GRCh37]
Chr15:87645566 [NCBI36]
Chr15:15q26.1 |
not provided |
| NM_002693.3(POLG):c.3644-9A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000352728]|Progressive sclerosing poliodystrophy [RCV000467871]|not provided [RCV000857933]|not specified [RCV000118021] |
Chr15:89316836 [GRCh38]
Chr15:89860067 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002693.3(POLG):c.3708G>T (p.Gln1236His) |
single nucleotide variant |
Fanconi anemia [RCV000291582]|Fanconi anemia complementation group I [RCV001000243]|Hereditary spastic paraplegia [RCV001847612]|Inborn genetic diseases [RCV002311519]|POLG-Related Spectrum Disorders [RCV000327842]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 [RCV004786277]|Progressive sclerosing poliodystrophy [RCV000758401]|Progressive sclerosing poliodystrophy [RCV002496426]|not provided [RCV000676315]|not specified [RCV000118022] |
Chr15:89316763 [GRCh38]
Chr15:89859994 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_002693.3(POLG):c.3700C>A (p.Arg1234=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345437]|Progressive sclerosing poliodystrophy [RCV000536053]|not provided [RCV000710187]|not specified [RCV000127550] |
Chr15:89316771 [GRCh38]
Chr15:89860002 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) |
single nucleotide variant |
Fanconi anemia [RCV000630839]|Fanconi anemia complementation group I [RCV000190643] |
Chr15:89293963 [GRCh38]
Chr15:89837194 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3093G>C (p.Leu1031Phe) |
single nucleotide variant |
Fanconi anemia [RCV001944965] |
Chr15:89305149 [GRCh38]
Chr15:89848380 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe) |
single nucleotide variant |
Fanconi anemia [RCV001296589]|Fanconi anemia complementation group I [RCV002507455]|Malignant tumor of breast [RCV001004844]|not provided [RCV004693411] |
Chr15:89314703 [GRCh38]
Chr15:89857934 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.546-5C>T |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001292734] |
Chr15:89263898 [GRCh38]
Chr15:89807129 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) |
single nucleotide variant |
Fanconi anemia [RCV001319341]|Fanconi anemia complementation group I [RCV001293995] |
Chr15:89268493 [GRCh38]
Chr15:89811724 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001332840] |
Chr15:89299900 [GRCh38]
Chr15:89843131 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001293993] |
Chr15:89312908 [GRCh38]
Chr15:89856139 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.775G>A (p.Val259Met) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001293994] |
Chr15:89268418 [GRCh38]
Chr15:89811649 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 |
copy number gain |
See cases [RCV000135858] |
Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3 |
pathogenic |
| GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 |
copy number gain |
See cases [RCV000135568] |
Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3 |
pathogenic |
| GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 |
copy number gain |
See cases [RCV000136849] |
Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3 |
pathogenic |
| GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 |
copy number gain |
See cases [RCV000137264] |
Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3 |
pathogenic |
| GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 |
copy number gain |
See cases [RCV000141899] |
Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3 |
pathogenic |
| GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 |
copy number gain |
See cases [RCV000142915] |
Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3 |
pathogenic |
| GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 |
copy number gain |
See cases [RCV000143019] |
Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3 |
pathogenic |
| GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 |
copy number gain |
See cases [RCV000142727] |
Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) |
single nucleotide variant |
Fanconi anemia [RCV001084635]|Fanconi anemia complementation group A [RCV000989374]|Fanconi anemia complementation group I [RCV001117437]|not provided [RCV000224770]|not specified [RCV000193016] |
Chr15:89285210 [GRCh38]
Chr15:89828441 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001113378.2(FANCI):c.3721-127_3721-126insGTACAA |
insertion |
not provided [RCV001682910]|not specified [RCV000194734] |
Chr15:89314480..89314481 [GRCh38]
Chr15:89857711..89857712 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) |
single nucleotide variant |
FANCI-related disorder [RCV003977514]|Fanconi anemia [RCV000231441]|Fanconi anemia complementation group I [RCV001121009]|not provided [RCV001532265]|not specified [RCV000193501] |
Chr15:89294945 [GRCh38]
Chr15:89838176 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys) |
single nucleotide variant |
Fanconi anemia [RCV000196010]|Fanconi anemia complementation group I [RCV001119040] |
Chr15:89292751 [GRCh38]
Chr15:89835982 [GRCh37]
Chr15:15q26.1 |
likely pathogenic|benign|likely benign |
| NM_001113378.2(FANCI):c.2883A>G (p.Gln961=) |
single nucleotide variant |
Fanconi anemia [RCV000200479]|Fanconi anemia complementation group I [RCV003316094]|not provided [RCV004597759] |
Chr15:89300379 [GRCh38]
Chr15:89843610 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.*560A>G |
single nucleotide variant |
not specified [RCV000194820] |
Chr15:89317019 [GRCh38]
Chr15:89860250 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3644-14G>C |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000758554]|not specified [RCV000188538] |
Chr15:89316841 [GRCh38]
Chr15:89860072 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_002693.3(POLG):c.3652C>T (p.Leu1218=) |
single nucleotide variant |
POLG-related disorder [RCV003985749]|Progressive sclerosing poliodystrophy [RCV000758388]|not provided [RCV000726207]|not specified [RCV000188539] |
Chr15:89316819 [GRCh38]
Chr15:89860050 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV002485274]|Progressive sclerosing poliodystrophy [RCV001852487]|not provided [RCV001731423] |
Chr15:89316770 [GRCh38]
Chr15:89860001 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_002693.3(POLG):c.*12G>A |
single nucleotide variant |
not specified [RCV000188541] |
Chr15:89316739 [GRCh38]
Chr15:89859970 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001116313]|Inborn genetic diseases [RCV004955316]|POLG-Related Spectrum Disorders [RCV001116314]|Progressive sclerosing poliodystrophy [RCV000758560]|Progressive sclerosing poliodystrophy [RCV000765233]|not provided [RCV000766619]|not specified [RCV000188632] |
Chr15:89316821 [GRCh38]
Chr15:89860052 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) |
single nucleotide variant |
Fanconi anemia [RCV000387145]|Fanconi anemia complementation group I [RCV001121231]|POLG-Related Spectrum Disorders [RCV000292852]|Progressive sclerosing poliodystrophy [RCV000794915] |
Chr15:89316771 [GRCh38]
Chr15:89860002 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.*49G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000361772]|POLG-Related Spectrum Disorders [RCV000267134]|POLG-related disorder [RCV003985770]|Progressive sclerosing poliodystrophy [RCV000758389] |
Chr15:89316702 [GRCh38]
Chr15:89859933 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) |
single nucleotide variant |
Fanconi anemia [RCV000205204]|Fanconi anemia complementation group I [RCV001115870]|not provided [RCV003401110]|not specified [RCV001804945] |
Chr15:89260841 [GRCh38]
Chr15:89804072 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.3924+1G>A |
single nucleotide variant |
Fanconi anemia [RCV000206316] |
Chr15:89315390 [GRCh38]
Chr15:89858621 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.445G>A (p.Gly149Ser) |
single nucleotide variant |
Fanconi anemia [RCV000206405] |
Chr15:89261741 [GRCh38]
Chr15:89804972 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) |
microsatellite |
Fanconi anemia [RCV000203795]|Fanconi anemia complementation group I [RCV002478726] |
Chr15:89307644..89307645 [GRCh38]
Chr15:89850875..89850876 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu) |
single nucleotide variant |
Fanconi anemia [RCV000543012]|Fanconi anemia complementation group I [RCV002483355] |
Chr15:89260791 [GRCh38]
Chr15:89804022 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1680G>A (p.Gln560=) |
single nucleotide variant |
Fanconi anemia [RCV000544332] |
Chr15:89283232 [GRCh38]
Chr15:89826463 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) |
single nucleotide variant |
Fanconi anemia [RCV000228217]|Fanconi anemia complementation group I [RCV001094371]|not provided [RCV000430909]|not specified [RCV001818581] |
Chr15:89292706 [GRCh38]
Chr15:89835937 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.3592-8T>C |
single nucleotide variant |
Fanconi anemia [RCV000230437]|Fanconi anemia complementation group I [RCV001121120]|not provided [RCV001723817]|not specified [RCV000244630] |
Chr15:89307605 [GRCh38]
Chr15:89850836 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.1741G>A (p.Glu581Lys) |
single nucleotide variant |
Fanconi anemia [RCV000230658] |
Chr15:89285138 [GRCh38]
Chr15:89828369 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser) |
single nucleotide variant |
Fanconi anemia [RCV000228659]|Fanconi anemia complementation group I [RCV002503894] |
Chr15:89273399 [GRCh38]
Chr15:89816630 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) |
single nucleotide variant |
FANCI-related disorder [RCV003955318]|Fanconi anemia [RCV000228956]|Fanconi anemia complementation group I [RCV001094276]|not provided [RCV000766508]|not specified [RCV000482252] |
Chr15:89281825 [GRCh38]
Chr15:89825056 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) |
single nucleotide variant |
Fanconi anemia [RCV001082996]|Fanconi anemia complementation group I [RCV002500767]|not provided [RCV000515122] |
Chr15:89276809 [GRCh38]
Chr15:89820040 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) |
single nucleotide variant |
Fanconi anemia [RCV000229685]|Fanconi anemia complementation group I [RCV001094317]|not provided [RCV001569204]|not specified [RCV000247675] |
Chr15:89301433 [GRCh38]
Chr15:89844664 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) |
single nucleotide variant |
Fanconi anemia [RCV000230137]|Fanconi anemia complementation group I [RCV001094277]|not provided [RCV000424552]|not specified [RCV001818582] |
Chr15:89295062 [GRCh38]
Chr15:89838293 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.2167C>T (p.Leu723=) |
single nucleotide variant |
Fanconi anemia [RCV001472742] |
Chr15:89292862 [GRCh38]
Chr15:89836093 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3255+6dup |
duplication |
Fanconi anemia [RCV001080863]|not provided [RCV000421284]|not specified [RCV001818583] |
Chr15:89305414..89305415 [GRCh38]
Chr15:89848645..89848646 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.33A>G (p.Glu11=) |
single nucleotide variant |
Fanconi anemia [RCV000227605] |
Chr15:89247680 [GRCh38]
Chr15:89790911 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3389T>A (p.Val1130Asp) |
single nucleotide variant |
Fanconi anemia [RCV000232922] |
Chr15:89306046 [GRCh38]
Chr15:89849277 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2781T>A (p.Ile927=) |
single nucleotide variant |
Fanconi anemia [RCV001455444] |
Chr15:89299944 [GRCh38]
Chr15:89843175 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2547A>G (p.Lys849=) |
single nucleotide variant |
Fanconi anemia [RCV000226449] |
Chr15:89295005 [GRCh38]
Chr15:89838236 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met) |
single nucleotide variant |
FANCI-related disorder [RCV003967621]|Fanconi anemia [RCV000233382]|Fanconi anemia complementation group I [RCV001119128] |
Chr15:89305390 [GRCh38]
Chr15:89848621 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.753C>T (p.Asp251=) |
single nucleotide variant |
Fanconi anemia [RCV000233693]|Fanconi anemia complementation group I [RCV001094367]|not provided [RCV001572978] |
Chr15:89264605 [GRCh38]
Chr15:89807836 [GRCh37]
Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter) |
single nucleotide variant |
Fanconi anemia [RCV000230835] |
Chr15:89263422 [GRCh38]
Chr15:89806653 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) |
single nucleotide variant |
Fanconi anemia [RCV000226832]|Fanconi anemia complementation group I [RCV001094316]|not provided [RCV000514238] |
Chr15:89300328 [GRCh38]
Chr15:89843559 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.3379A>G (p.Asn1127Asp) |
single nucleotide variant |
Fanconi anemia [RCV000231184] |
Chr15:89306036 [GRCh38]
Chr15:89849267 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del) |
microsatellite |
Fanconi anemia [RCV000232189]|Fanconi anemia complementation group I [RCV002487055]|not provided [RCV004692850] |
Chr15:89292760..89292771 [GRCh38]
Chr15:89835991..89836002 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile) |
single nucleotide variant |
Fanconi anemia [RCV000233977]|Fanconi anemia complementation group I [RCV000763987]|not provided [RCV003318566]|not specified [RCV001818580] |
Chr15:89281187 [GRCh38]
Chr15:89824418 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1891-6A>G |
single nucleotide variant |
Fanconi anemia [RCV001463879] |
Chr15:89291607 [GRCh38]
Chr15:89834838 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-4C>T |
single nucleotide variant |
Fanconi anemia [RCV001409427] |
Chr15:89316393 [GRCh38]
Chr15:89859624 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1070G>T (p.Arg357Ile) |
single nucleotide variant |
Fanconi anemia [RCV001368004] |
Chr15:89274262 [GRCh38]
Chr15:89817493 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val) |
single nucleotide variant |
Fanconi anemia [RCV000228600]|Fanconi anemia complementation group I [RCV002494633] |
Chr15:89293050 [GRCh38]
Chr15:89836281 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.446-6T>G |
single nucleotide variant |
Fanconi anemia [RCV000227151]|Fanconi anemia complementation group I [RCV002500768]|not specified [RCV001818584] |
Chr15:89261815 [GRCh38]
Chr15:89805046 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys) |
single nucleotide variant |
Fanconi anemia [RCV000548119]|Fanconi anemia complementation group I [RCV002476095] |
Chr15:89291626 [GRCh38]
Chr15:89834857 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3888G>A (p.Met1296Ile) |
single nucleotide variant |
Fanconi anemia [RCV000525820] |
Chr15:89315353 [GRCh38]
Chr15:89858584 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 |
copy number gain |
See cases [RCV000511332] |
Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.545+19C>T |
single nucleotide variant |
Fanconi anemia [RCV001514328]|Fanconi anemia complementation group I [RCV001702385]|not provided [RCV001618406]|not specified [RCV000243527] |
Chr15:89263479 [GRCh38]
Chr15:89806710 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_002693.3(POLG):c.3643+257T>G |
single nucleotide variant |
Fanconi anemia [RCV000274297]|Fanconi anemia complementation group I [RCV001117758]|POLG-Related Spectrum Disorders [RCV000331693]|not provided [RCV000840517] |
Chr15:89317119 [GRCh38]
Chr15:89860350 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) |
single nucleotide variant |
Fanconi anemia [RCV000348737]|Fanconi anemia complementation group I [RCV001117649]|POLG-Related Spectrum Disorders [RCV000329693]|not provided [RCV001706323]|not specified [RCV000251297] |
Chr15:89315371 [GRCh38]
Chr15:89858602 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848933]|Inborn genetic diseases [RCV004659089]|Progressive sclerosing poliodystrophy [RCV000548544]|Progressive sclerosing poliodystrophy [RCV000765232]|not provided [RCV001591204]|not specified [RCV003479152] |
Chr15:89316804 [GRCh38]
Chr15:89860035 [GRCh37]
Chr15:15q26.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.1698+15C>T |
single nucleotide variant |
Fanconi anemia [RCV001514329]|Fanconi anemia complementation group I [RCV000331416]|not provided [RCV001689819]|not specified [RCV000242034] |
Chr15:89283265 [GRCh38]
Chr15:89826496 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) |
single nucleotide variant |
Fanconi anemia [RCV000397179]|Fanconi anemia complementation group I [RCV001094278]|not provided [RCV001706322]|not specified [RCV000252318] |
Chr15:89295087 [GRCh38]
Chr15:89838318 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 |
copy number gain |
See cases [RCV000240602] |
Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) |
single nucleotide variant |
Fanconi anemia [RCV000397172]|Fanconi anemia complementation group I [RCV001094456]|not provided [RCV001534672]|not specified [RCV000242536] |
Chr15:89293908 [GRCh38]
Chr15:89837139 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) |
single nucleotide variant |
Fanconi anemia [RCV000262235]|Fanconi anemia complementation group I [RCV001094273]|not provided [RCV001706321]|not specified [RCV000247561] |
Chr15:89260812 [GRCh38]
Chr15:89260812..89260813 [GRCh38]
Chr15:89804043 [GRCh37]
Chr15:89804043..89804044 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.288+37G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001701961]|not provided [RCV001636760]|not specified [RCV000242880] |
Chr15:89260880 [GRCh38]
Chr15:89804111 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) |
single nucleotide variant |
Fanconi anemia [RCV000297536]|Fanconi anemia complementation group I [RCV001094272]|not provided [RCV001706319]|not specified [RCV000250260] |
Chr15:89260719 [GRCh38]
Chr15:89803950 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) |
single nucleotide variant |
Fanconi anemia [RCV000339014]|Fanconi anemia complementation group I [RCV001094455]|not provided [RCV001706320]|not specified [RCV000250359] |
Chr15:89292997 [GRCh38]
Chr15:89836228 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3006+15A>C |
single nucleotide variant |
Fanconi anemia [RCV001516948]|Fanconi anemia complementation group I [RCV000276437]|not provided [RCV001610606]|not specified [RCV000252807] |
Chr15:89301457 [GRCh38]
Chr15:89844688 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) |
single nucleotide variant |
Fanconi anemia [RCV000529696]|Fanconi anemia complementation group I [RCV001118938]|not provided [RCV000523947]|not specified [RCV001821453] |
Chr15:89268467 [GRCh38]
Chr15:89811698 [GRCh37]
Chr15:15q26.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.3651+19G>A |
single nucleotide variant |
Fanconi anemia [RCV001519389]|Fanconi anemia complementation group I [RCV002500879]|not provided [RCV001636761]|not specified [RCV000248162] |
Chr15:89307691 [GRCh38]
Chr15:89850922 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.545+30G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001701896]|not provided [RCV001689820]|not specified [RCV000248274] |
Chr15:89263490 [GRCh38]
Chr15:89806721 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1176A>T (p.Ser392=) |
single nucleotide variant |
Fanconi anemia [RCV000300610]|Fanconi anemia complementation group I [RCV001094451]|not provided [RCV002292525] |
Chr15:89276774 [GRCh38]
Chr15:89820005 [GRCh37]
Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002693.3(POLG):c.3644-116T>C |
single nucleotide variant |
Fanconi anemia [RCV000300357]|Fanconi anemia complementation group I [RCV001116319]|POLG-Related Spectrum Disorders [RCV000359680] |
Chr15:89316943 [GRCh38]
Chr15:89860174 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.*63A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000300537]|POLG-Related Spectrum Disorders [RCV000355378] |
Chr15:89316688 [GRCh38]
Chr15:89859919 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3644-99C>T |
single nucleotide variant |
Fanconi anemia [RCV000335149]|Fanconi anemia complementation group I [RCV001116318]|POLG-Related Spectrum Disorders [RCV000396648]|not provided [RCV000835404] |
Chr15:89316926 [GRCh38]
Chr15:89860157 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2519G>A (p.Arg840His) |
single nucleotide variant |
Fanconi anemia [RCV001297701]|Fanconi anemia complementation group I [RCV000304024]|not specified [RCV001820937] |
Chr15:89294977 [GRCh38]
Chr15:89838208 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser) |
single nucleotide variant |
Fanconi anemia [RCV000398337]|Fanconi anemia complementation group I [RCV001094271] |
Chr15:89247664 [GRCh38]
Chr15:89790895 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr) |
single nucleotide variant |
FANCI-related disorder [RCV003930368]|Fanconi anemia [RCV000268016]|Fanconi anemia complementation group I [RCV000763985] |
Chr15:89261842 [GRCh38]
Chr15:89805073 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=) |
single nucleotide variant |
Fanconi anemia [RCV001513101]|Fanconi anemia complementation group I [RCV000286695] |
Chr15:89312957 [GRCh38]
Chr15:89856188 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1311A>G (p.Arg437=) |
single nucleotide variant |
Fanconi anemia [RCV000305871] |
Chr15:89278704 [GRCh38]
Chr15:89821935 [GRCh37]
Chr15:15q26.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002693.3(POLG):c.*30G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001121230]|POLG-Related Spectrum Disorders [RCV000381450]|Progressive sclerosing poliodystrophy [RCV000758402]|not provided [RCV001546322] |
Chr15:89316721 [GRCh38]
Chr15:89859952 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) |
single nucleotide variant |
Fanconi anemia [RCV001213730]|Fanconi anemia complementation group I [RCV000312524]|not provided [RCV003237822]|not specified [RCV001820938] |
Chr15:89315361 [GRCh38]
Chr15:89858592 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) |
single nucleotide variant |
Fanconi anemia [RCV002509364]|Fanconi anemia complementation group I [RCV000293402] |
Chr15:89268492 [GRCh38]
Chr15:89811723 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly) |
single nucleotide variant |
FANCI-related disorder [RCV003920334]|Fanconi anemia [RCV000294568]|Fanconi anemia complementation group I [RCV001094369] |
Chr15:89274303 [GRCh38]
Chr15:89817534 [GRCh37]
Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) |
single nucleotide variant |
Fanconi anemia [RCV000277965]|Fanconi anemia complementation group I [RCV001094314] |
Chr15:89290247 [GRCh38]
Chr15:89833478 [GRCh37]
Chr15:15q26.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002693.3(POLG):c.3643+258A>G |
single nucleotide variant |
Fanconi anemia [RCV000328504]|Fanconi anemia complementation group I [RCV001117757]|POLG-Related Spectrum Disorders [RCV000364559]|not provided [RCV000840824] |
Chr15:89317118 [GRCh38]
Chr15:89860349 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.3721-15G>A |
single nucleotide variant |
Fanconi anemia [RCV001453263]|Fanconi anemia complementation group I [RCV000341754] |
Chr15:89314597 [GRCh38]
Chr15:89857828 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr) |
single nucleotide variant |
Fanconi anemia [RCV000263354]|Fanconi anemia complementation group I [RCV001094373] |
Chr15:89305395 [GRCh38]
Chr15:89848626 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3644-72C>A |
single nucleotide variant |
Fanconi anemia [RCV000280138]|Fanconi anemia complementation group I [RCV001116316]|POLG-Related Spectrum Disorders [RCV001116317] |
Chr15:89316899 [GRCh38]
Chr15:89860130 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_002693.3(POLG):c.*122G>A |
single nucleotide variant |
Fanconi anemia [RCV000354186]|Fanconi anemia complementation group I [RCV001119231]|Mitochondrial disease [RCV001526412]|POLG-Related Spectrum Disorders [RCV000259330] |
Chr15:89316629 [GRCh38]
Chr15:89859860 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.288+10C>T |
single nucleotide variant |
FANCI-related disorder [RCV003920333]|Fanconi anemia [RCV001514198]|Fanconi anemia complementation group I [RCV000321878] |
Chr15:89260853 [GRCh38]
Chr15:89804084 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1512+3A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000366280] |
Chr15:89281303 [GRCh38]
Chr15:89824534 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.539T>C (p.Met180Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000323121] |
Chr15:89263454 [GRCh38]
Chr15:89806685 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.1(FANCI):c.-90T>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000394238] |
Chr15:89243963 [GRCh38]
Chr15:89787194 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) |
single nucleotide variant |
FANCI-related disorder [RCV003940239]|Fanconi anemia [RCV000325551]|Fanconi anemia complementation group I [RCV001094275]|not provided [RCV003409493]|not specified [RCV001820936] |
Chr15:89281279 [GRCh38]
Chr15:89824510 [GRCh37]
Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.868G>A (p.Val290Met) |
single nucleotide variant |
Fanconi anemia [RCV000348338]|Fanconi anemia complementation group I [RCV001094368]|not provided [RCV001706492] |
Chr15:89268511 [GRCh38]
Chr15:89811742 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=) |
single nucleotide variant |
FANCI-related disorder [RCV003972352]|Fanconi anemia [RCV001429121]|Fanconi anemia complementation group I [RCV000372074]|not provided [RCV003401331] |
Chr15:89305391 [GRCh38]
Chr15:89848622 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1294-8C>T |
single nucleotide variant |
Fanconi anemia [RCV000397897]|Fanconi anemia complementation group I [RCV001094453]|not provided [RCV001706494] |
Chr15:89278679 [GRCh38]
Chr15:89821910 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) |
single nucleotide variant |
Fanconi anemia [RCV000397895]|Fanconi anemia complementation group I [RCV001094450]|not provided [RCV001706493] |
Chr15:89276712 [GRCh38]
Chr15:89819943 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002693.3(POLG):c.*44G>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001121229]|POLG-Related Spectrum Disorders [RCV000326804]|POLG-related disorder [RCV003985771] |
Chr15:89316707 [GRCh38]
Chr15:89859938 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile) |
single nucleotide variant |
Fanconi anemia [RCV002522808]|Fanconi anemia complementation group I [RCV000373709]|not provided [RCV004783772] |
Chr15:89291622 [GRCh38]
Chr15:89834853 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.2(POLG):c.*49dupG |
duplication |
POLG-Related Spectrum Disorders [RCV000320567] |
Chr15:89316702 [GRCh38]
Chr15:89859933 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) |
single nucleotide variant |
Fanconi anemia [RCV000374759]|Fanconi anemia complementation group I [RCV001094372]|not provided [RCV001706495] |
Chr15:89292723 [GRCh38]
Chr15:89835954 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001113378.2(FANCI):c.2646A>G (p.Leu882=) |
single nucleotide variant |
Fanconi anemia [RCV000309949]|Fanconi anemia complementation group I [RCV001094279]|not provided [RCV003401330] |
Chr15:89299809 [GRCh38]
Chr15:89843040 [GRCh37]
Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val) |
single nucleotide variant |
Fanconi anemia [RCV002520976]|Fanconi anemia complementation group I [RCV000377858]|Immunodeficiency 62 [RCV003447523] |
Chr15:89306057 [GRCh38]
Chr15:89849288 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.976-13A>T |
single nucleotide variant |
Fanconi anemia [RCV001523326]|Fanconi anemia complementation group I [RCV000403770]|not provided [RCV004808682] |
Chr15:89274155 [GRCh38]
Chr15:89817386 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) |
single nucleotide variant |
FANCI-related disorder [RCV003910200]|Fanconi anemia [RCV000355478]|Fanconi anemia complementation group I [RCV001094452]|not provided [RCV004714999] |
Chr15:89276777 [GRCh38]
Chr15:89820008 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) |
single nucleotide variant |
Fanconi anemia [RCV000405113]|Fanconi anemia complementation group I [RCV001094320]|not provided [RCV001559410] |
Chr15:89315311 [GRCh38]
Chr15:89858542 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002693.3(POLG):c.3644-16T>C |
single nucleotide variant |
Fanconi anemia [RCV000405320]|Fanconi anemia complementation group I [RCV001116315]|Progressive sclerosing poliodystrophy [RCV000758387]|not provided [RCV001705474] |
Chr15:89316843 [GRCh38]
Chr15:89860074 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_002693.3(POLG):c.*49dup |
duplication |
Fanconi anemia [RCV000265494]|POLG-Related Spectrum Disorders [RCV000320567]|not provided [RCV001653556]|not specified [RCV004594043] |
Chr15:89316701..89316702 [GRCh38]
Chr15:89859932..89859933 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.2856T>A (p.Thr952=) |
single nucleotide variant |
FANCI-related disorder [RCV003972351]|Fanconi anemia [RCV001419703]|Fanconi anemia complementation group I [RCV000311735] |
Chr15:89300352 [GRCh38]
Chr15:89843583 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys) |
single nucleotide variant |
Fanconi anemia [RCV001344485]|Fanconi anemia complementation group I [RCV000356939]|not provided [RCV004597778] |
Chr15:89260751 [GRCh38]
Chr15:89803982 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.546-6C>T |
single nucleotide variant |
Fanconi anemia [RCV001211026]|Fanconi anemia complementation group I [RCV000382136] |
Chr15:89263897 [GRCh38]
Chr15:89807128 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) |
single nucleotide variant |
Fanconi anemia [RCV000382339]|Fanconi anemia complementation group I [RCV001094280]|not provided [RCV003237821] |
Chr15:89314612 [GRCh38]
Chr15:89857843 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1113-10G>C |
single nucleotide variant |
Fanconi anemia [RCV001465264]|Fanconi anemia complementation group I [RCV000335630] |
Chr15:89276701 [GRCh38]
Chr15:89819932 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) |
single nucleotide variant |
Fanconi anemia [RCV000360604]|Fanconi anemia complementation group I [RCV001094454]|not provided [RCV002469129]|not specified [RCV000504421] |
Chr15:89278719 [GRCh38]
Chr15:89821950 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile) |
single nucleotide variant |
Fanconi anemia [RCV000386353]|Fanconi anemia complementation group I [RCV001094313] |
Chr15:89285198 [GRCh38]
Chr15:89828429 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=) |
single nucleotide variant |
Fanconi anemia [RCV000317528]|Fanconi anemia complementation group I [RCV001094318]|not provided [RCV003237820] |
Chr15:89305159 [GRCh38]
Chr15:89848390 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002693.3(POLG):c.3644-184T>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001117756]|POLG-Related Spectrum Disorders [RCV000363254] |
Chr15:89317011 [GRCh38]
Chr15:89860242 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.*614T>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000268741] |
Chr15:89317073 [GRCh38]
Chr15:89860304 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys) |
single nucleotide variant |
Fanconi anemia [RCV000364663]|Fanconi anemia complementation group I [RCV001094315]|not provided [RCV001775765] |
Chr15:89299931 [GRCh38]
Chr15:89843162 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3665G>A (p.Ser1222Asn) |
single nucleotide variant |
Fanconi anemia [RCV000526853]|Fanconi anemia complementation group I [RCV005004217] |
Chr15:89312917 [GRCh38]
Chr15:89856148 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.100C>T (p.Gln34Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001781090] |
Chr15:89258719 [GRCh38]
Chr15:89801950 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.158-2A>G |
single nucleotide variant |
Fanconi anemia [RCV003522949]|Fanconi anemia complementation group I [RCV000490489] |
Chr15:89260711 [GRCh38]
Chr15:89803942 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3807G>T (p.Lys1269Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003268553] |
Chr15:89314698 [GRCh38]
Chr15:89857929 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.-72C>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000315198] |
Chr15:89243981 [GRCh38]
Chr15:89787212 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.2(POLG):c.3644-178_3644-176dupAGA |
duplication |
POLG-Related Spectrum Disorders [RCV000303955] |
Chr15:89317003..89317005 [GRCh38]
Chr15:89860234..89860236 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1890+3A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000333037] |
Chr15:89290284 [GRCh38]
Chr15:89833515 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala) |
single nucleotide variant |
Fanconi anemia [RCV002257637]|Fanconi anemia complementation group I [RCV000318623] |
Chr15:89305401 [GRCh38]
Chr15:89848632 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2169+12G>A |
single nucleotide variant |
Fanconi anemia [RCV003522957]|Fanconi anemia complementation group I [RCV000284986] |
Chr15:89292876 [GRCh38]
Chr15:89836107 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_002693.3(POLG):c.3105-11T>C |
single nucleotide variant |
Fanconi anemia [RCV000281377]|Mitochondrial DNA depletion syndrome 4b [RCV001789186]|POLG-Related Spectrum Disorders [RCV000284559]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 [RCV001789184]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 [RCV001789185]|Progressive sclerosing poliodystrophy [RCV000758546]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001789183]|not provided [RCV004704984]|not specified [RCV000153754] |
Chr15:89319110 [GRCh38]
Chr15:89862341 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.-23G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000369856] |
Chr15:89244030 [GRCh38]
Chr15:89787261 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000338856] |
Chr15:89292716 [GRCh38]
Chr15:89835947 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3816+17_3816+19del |
microsatellite |
Fanconi anemia [RCV000287731] |
Chr15:89314720..89314722 [GRCh38]
Chr15:89857951..89857953 [GRCh37]
Chr15:15q26.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.606C>T (p.Phe202=) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000287944] |
Chr15:89263963 [GRCh38]
Chr15:89807194 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.292C>T (p.His98Tyr) |
single nucleotide variant |
Fanconi anemia [RCV000357948]|Fanconi anemia complementation group I [RCV001094274] |
Chr15:89261588 [GRCh38]
Chr15:89804819 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3925-84_3925-81dup |
duplication |
Fanconi anemia [RCV000394228]|POLG-Related Spectrum Disorders [RCV000313257] |
Chr15:89316309..89316310 [GRCh38]
Chr15:89859540..89859541 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) |
single nucleotide variant |
Association with valproate-induced liver toxicity [RCV000999632]|Fanconi anemia [RCV000386578]|Hereditary spastic paraplegia [RCV001847611]|Inborn genetic diseases [RCV002311518]|Mitochondrial disease [RCV000020476]|POLG-Related Spectrum Disorders [RCV001119316]|Progressive sclerosing poliodystrophy [RCV000469563]|Progressive sclerosing poliodystrophy [RCV000755650]|not provided [RCV000676317]|not specified [RCV000118018] |
Chr15:89318595 [GRCh38]
Chr15:89861826 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
| NM_002693.3(POLG):c.2958C>T (p.Tyr986=) |
single nucleotide variant |
Fanconi anemia [RCV000338726]|Hereditary spastic paraplegia [RCV001847712]|Inborn genetic diseases [RCV002312230]|POLG-Related Spectrum Disorders [RCV000341944]|Progressive sclerosing poliodystrophy [RCV000467151]|not provided [RCV000676320]|not specified [RCV000118015] |
Chr15:89320789 [GRCh38]
Chr15:89864020 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002693.2(POLG):c.*438_*441dupATCT |
duplication |
POLG-Related Spectrum Disorders [RCV000313257] |
Chr15:89316310..89316313 [GRCh38]
Chr15:89859541..89859544 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3644-178_3644-176dup |
duplication |
Fanconi anemia [RCV000396655]|POLG-Related Spectrum Disorders [RCV000303955] |
Chr15:89317002..89317003 [GRCh38]
Chr15:89860233..89860234 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3816+15A>T |
single nucleotide variant |
Fanconi anemia [RCV000347620]|Fanconi anemia complementation group I [RCV001117647]|POLG-Related Spectrum Disorders [RCV000295709]|not provided [RCV001613019] |
Chr15:89314722 [GRCh38]
Chr15:89857953 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV002481713]|not provided [RCV000519865] |
Chr15:89261624 [GRCh38]
Chr15:89804855 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.669+17_669+18del |
deletion |
Fanconi anemia [RCV000328875] |
Chr15:89264042..89264043 [GRCh38]
Chr15:89807273..89807274 [GRCh37]
Chr15:15q26.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) |
single nucleotide variant |
Fanconi anemia [RCV001520811]|Fanconi anemia complementation group I [RCV001120904] |
Chr15:89276861 [GRCh38]
Chr15:89820092 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile) |
single nucleotide variant |
Fanconi anemia [RCV001202148]|Fanconi anemia complementation group I [RCV001121006] |
Chr15:89292957 [GRCh38]
Chr15:89836188 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1810A>G (p.Met604Val) |
single nucleotide variant |
Fanconi anemia [RCV000527436]|Fanconi anemia complementation group I [RCV002476094]|not provided [RCV001770406] |
Chr15:89285207 [GRCh38]
Chr15:89828438 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2520C>G (p.Arg840=) |
single nucleotide variant |
Fanconi anemia [RCV000531769] |
Chr15:89294978 [GRCh38]
Chr15:89838209 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val) |
single nucleotide variant |
Fanconi anemia [RCV000554248]|Fanconi anemia complementation group I [RCV000765225]|not provided [RCV003237889] |
Chr15:89292975 [GRCh38]
Chr15:89836206 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) |
single nucleotide variant |
Fanconi anemia [RCV000699113]|Fanconi anemia complementation group I [RCV002481726]|not provided [RCV000522385]|not specified [RCV001821462] |
Chr15:89293867 [GRCh38]
Chr15:89837098 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2318G>A (p.Ser773Asn) |
single nucleotide variant |
Fanconi anemia [RCV000532557] |
Chr15:89293859 [GRCh38]
Chr15:89837090 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1950T>A (p.Cys650Ter) |
single nucleotide variant |
not provided [RCV000722851] |
Chr15:89291672 [GRCh38]
Chr15:89834903 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 |
copy number gain |
not provided [RCV000415836] |
Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2026G>T (p.Ala676Ser) |
single nucleotide variant |
Fanconi anemia [RCV000541408] |
Chr15:89292721 [GRCh38]
Chr15:89835952 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000758338]|not provided [RCV000734457] |
Chr15:89316791 [GRCh38]
Chr15:89860022 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr) |
single nucleotide variant |
Fanconi anemia [RCV000537549]|Fanconi anemia complementation group I [RCV002490946] |
Chr15:89285132 [GRCh38]
Chr15:89828363 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys) |
single nucleotide variant |
Fanconi anemia [RCV000537611]|Fanconi anemia complementation group I [RCV000765223] |
Chr15:89290241 [GRCh38]
Chr15:89833472 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.394A>G (p.Ile132Val) |
single nucleotide variant |
Fanconi anemia [RCV000555553] |
Chr15:89261690 [GRCh38]
Chr15:89804921 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.290C>T (p.Ala97Val) |
single nucleotide variant |
Fanconi anemia [RCV000535517] |
Chr15:89261586 [GRCh38]
Chr15:89804817 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser) |
single nucleotide variant |
Fanconi anemia [RCV000558988]|Fanconi anemia complementation group I [RCV002497052] |
Chr15:89285124 [GRCh38]
Chr15:89828355 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3187-2A>T |
single nucleotide variant |
not provided [RCV000723035] |
Chr15:89305339 [GRCh38]
Chr15:89848570 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 |
copy number gain |
See cases [RCV000449119] |
Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.2519G>T (p.Arg840Leu) |
single nucleotide variant |
Fanconi anemia [RCV000553208] |
Chr15:89294977 [GRCh38]
Chr15:89838208 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 |
copy number gain |
See cases [RCV000447123] |
Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) |
single nucleotide variant |
Fanconi anemia [RCV001086071]|Fanconi anemia complementation group I [RCV001117440]|not provided [RCV000443415] |
Chr15:89291615 [GRCh38]
Chr15:89834846 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_002693.3(POLG):c.*4T>C |
single nucleotide variant |
not specified [RCV000431158] |
Chr15:89316747 [GRCh38]
Chr15:89859978 [GRCh37]
Chr15:15q26.1 |
likely benign |
| GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 |
copy number gain |
See cases [RCV000445705] |
Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3 |
pathogenic |
| GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 |
copy number gain |
See cases [RCV000447765] |
Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3 |
pathogenic |
| GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 |
copy number gain |
See cases [RCV000448044] |
Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3 |
pathogenic |
| GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 |
copy number loss |
See cases [RCV000448680] |
Chr15:88295992..94215607 [GRCh37]
Chr15:15q25.3-26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2023T>C (p.Leu675=) |
single nucleotide variant |
Fanconi anemia [RCV000473908] |
Chr15:89292718 [GRCh38]
Chr15:89835949 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1704T>C (p.His568=) |
single nucleotide variant |
FANCI-related disorder [RCV003942539]|Fanconi anemia [RCV000459160] |
Chr15:89285101 [GRCh38]
Chr15:89828332 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) |
single nucleotide variant |
Fanconi anemia [RCV000462978]|Fanconi anemia complementation group I [RCV001121116]|not provided [RCV004716504]|not specified [RCV000503400] |
Chr15:89306182 [GRCh38]
Chr15:89849413 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) |
single nucleotide variant |
FANCI-related disorder [RCV003902684]|Fanconi anemia [RCV000466767]|Fanconi anemia complementation group I [RCV001119038]|not provided [RCV003401499] |
Chr15:89291685 [GRCh38]
Chr15:89834916 [GRCh37]
Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg) |
single nucleotide variant |
Fanconi anemia [RCV000466858]|Fanconi anemia complementation group I [RCV000763988]|not provided [RCV000658083] |
Chr15:89281200 [GRCh38]
Chr15:89824431 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala) |
single nucleotide variant |
Fanconi anemia [RCV000470517]|Fanconi anemia complementation group I [RCV001115869]|not specified [RCV003151064] |
Chr15:89260713 [GRCh38]
Chr15:89803944 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser) |
single nucleotide variant |
Fanconi anemia [RCV000463193]|Fanconi anemia complementation group I [RCV001121010]|Inborn genetic diseases [RCV004022682]|not provided [RCV003237865]|not specified [RCV001821273] |
Chr15:89294965 [GRCh38]
Chr15:89838196 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1102G>A (p.Val368Met) |
single nucleotide variant |
Fanconi anemia [RCV000463194]|Fanconi anemia complementation group I [RCV002496762] |
Chr15:89274294 [GRCh38]
Chr15:89817525 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter) |
single nucleotide variant |
Fanconi anemia [RCV000467025] |
Chr15:89314671 [GRCh38]
Chr15:89857902 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.528A>G (p.Gln176=) |
single nucleotide variant |
FANCI-related disorder [RCV004754436]|Fanconi anemia [RCV000459556]|Fanconi anemia complementation group I [RCV001117325]|not provided [RCV003409624]|not specified [RCV001821271] |
Chr15:89263443 [GRCh38]
Chr15:89806674 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) |
single nucleotide variant |
FANCI-related disorder [RCV003960078]|Fanconi anemia [RCV000463423]|Fanconi anemia complementation group I [RCV001116207]|not specified [RCV001821350] |
Chr15:89312912 [GRCh38]
Chr15:89856143 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp) |
single nucleotide variant |
Fanconi anemia [RCV000474593]|Fanconi anemia complementation group I [RCV002481430] |
Chr15:89281816 [GRCh38]
Chr15:89825047 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.10:g.(?_89247629)_(89317131_?)del |
deletion |
Fanconi anemia [RCV000474762] |
Chr15:89247629..89317131 [GRCh38]
Chr15:89790860..89860362 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2033A>G (p.Tyr678Cys) |
single nucleotide variant |
Fanconi anemia [RCV000470006] |
Chr15:89292728 [GRCh38]
Chr15:89835959 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr) |
single nucleotide variant |
Fanconi anemia [RCV000471427]|Fanconi anemia complementation group I [RCV002481431] |
Chr15:89292976 [GRCh38]
Chr15:89836207 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1699-7C>A |
single nucleotide variant |
Fanconi anemia [RCV000471365]|Fanconi anemia complementation group I [RCV001115980]|not provided [RCV004716505] |
Chr15:89285089 [GRCh38]
Chr15:89828320 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.1699-3C>G |
single nucleotide variant |
Fanconi anemia [RCV000456710]|Fanconi anemia complementation group I [RCV002496763] |
Chr15:89285093 [GRCh38]
Chr15:89828324 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) |
single nucleotide variant |
Fanconi anemia [RCV000460384]|Fanconi anemia complementation group I [RCV000502163]|not provided [RCV003235224] |
Chr15:89281249 [GRCh38]
Chr15:89824480 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile) |
single nucleotide variant |
Fanconi anemia [RCV000467934]|Fanconi anemia complementation group A [RCV000989378]|Fanconi anemia complementation group I [RCV002506122]|not provided [RCV004591314]|not specified [RCV001821272] |
Chr15:89312958 [GRCh38]
Chr15:89856189 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.83A>G (p.Asp28Gly) |
single nucleotide variant |
Fanconi anemia [RCV000471618] |
Chr15:89247730 [GRCh38]
Chr15:89790961 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly) |
single nucleotide variant |
Fanconi anemia [RCV000475763]|Fanconi anemia complementation group I [RCV000765226] |
Chr15:89293975 [GRCh38]
Chr15:89837206 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1923G>A (p.Leu641=) |
single nucleotide variant |
Fanconi anemia [RCV002525659]|Fanconi anemia complementation group I [RCV002475908] |
Chr15:89291645 [GRCh38]
Chr15:89834876 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) |
deletion |
Fanconi anemia [RCV000457201]|Fanconi anemia complementation group I [RCV001194983]|not provided [RCV002223210] |
Chr15:89306149 [GRCh38]
Chr15:89849380 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.2813A>G (p.Asp938Gly) |
single nucleotide variant |
Fanconi anemia [RCV000475877]|Inborn genetic diseases [RCV004022681] |
Chr15:89300309 [GRCh38]
Chr15:89843540 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1355C>T (p.Ala452Val) |
single nucleotide variant |
not provided [RCV000485704] |
Chr15:89278748 [GRCh38]
Chr15:89821979 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2781T>G (p.Ile927Met) |
single nucleotide variant |
Fanconi anemia [RCV000457383]|Fanconi anemia complementation group I [RCV005010359] |
Chr15:89299944 [GRCh38]
Chr15:89843175 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2017C>T (p.His673Tyr) |
single nucleotide variant |
Fanconi anemia [RCV000472349] |
Chr15:89292712 [GRCh38]
Chr15:89835943 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2131A>T (p.Asn711Tyr) |
single nucleotide variant |
Fanconi anemia [RCV000465099]|Inborn genetic diseases [RCV004975522] |
Chr15:89292826 [GRCh38]
Chr15:89836057 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg) |
single nucleotide variant |
Fanconi anemia [RCV000472649]|Fanconi anemia complementation group I [RCV001194992] |
Chr15:89276862 [GRCh38]
Chr15:89820093 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu) |
single nucleotide variant |
Fanconi anemia [RCV000476438]|Fanconi anemia complementation group I [RCV002489045] |
Chr15:89315333 [GRCh38]
Chr15:89858564 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1564C>A (p.Arg522=) |
single nucleotide variant |
Fanconi anemia [RCV000461592] |
Chr15:89281816 [GRCh38]
Chr15:89825047 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1278G>T (p.Leu426=) |
single nucleotide variant |
Fanconi anemia [RCV000461745] |
Chr15:89276876 [GRCh38]
Chr15:89820107 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg) |
single nucleotide variant |
Fanconi anemia [RCV000476737]|Fanconi anemia complementation group I [RCV000765231]|not provided [RCV002223211] |
Chr15:89316418 [GRCh38]
Chr15:89859649 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2406T>C (p.Asp802=) |
single nucleotide variant |
Fanconi anemia [RCV000461896]|Fanconi anemia complementation group I [RCV001121008] |
Chr15:89293947 [GRCh38]
Chr15:89837178 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2097C>T (p.Tyr699=) |
single nucleotide variant |
Fanconi anemia [RCV000458350]|not specified [RCV000502848] |
Chr15:89292792 [GRCh38]
Chr15:89836023 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1112+3A>G |
single nucleotide variant |
Fanconi anemia [RCV000458366] |
Chr15:89274307 [GRCh38]
Chr15:89817538 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2936G>T (p.Ser979Ile) |
single nucleotide variant |
Fanconi anemia [RCV000462123] |
Chr15:89301372 [GRCh38]
Chr15:89844603 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1654A>C (p.Ser552Arg) |
single nucleotide variant |
Fanconi anemia [RCV000477159] |
Chr15:89283206 [GRCh38]
Chr15:89826437 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys) |
inversion |
Fanconi anemia [RCV000458468] |
Chr15:89315371..89315372 [GRCh38]
Chr15:89858602..89858603 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1656C>G (p.Ser552Arg) |
single nucleotide variant |
Fanconi anemia [RCV000462307] |
Chr15:89283208 [GRCh38]
Chr15:89826439 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.326C>G (p.Ala109Gly) |
single nucleotide variant |
Fanconi anemia [RCV000466037]|Microcephaly [RCV001252857]|not specified [RCV001821270] |
Chr15:89261622 [GRCh38]
Chr15:89804853 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met) |
single nucleotide variant |
Colorectal cancer [RCV001543608]|Fanconi anemia [RCV000469963]|Fanconi anemia complementation group I [RCV000765228] |
Chr15:89301396 [GRCh38]
Chr15:89844627 [GRCh37]
Chr15:15q26.1 |
likely pathogenic|uncertain significance |
| NM_001113378.2(FANCI):c.1200T>C (p.Asp400=) |
single nucleotide variant |
Fanconi anemia [RCV000470108] |
Chr15:89276798 [GRCh38]
Chr15:89820029 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.550G>C (p.Val184Leu) |
single nucleotide variant |
Fanconi anemia [RCV000801500]|Fanconi anemia complementation group I [RCV005010429]|Inborn genetic diseases [RCV004975597]|not specified [RCV000500866] |
Chr15:89263907 [GRCh38]
Chr15:89807138 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2481A>T (p.Glu827Asp) |
single nucleotide variant |
Fanconi anemia [RCV001865606]|not specified [RCV000501253] |
Chr15:89294939 [GRCh38]
Chr15:89838170 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1534T>G (p.Ser512Ala) |
single nucleotide variant |
not provided [RCV004760539]|not specified [RCV000503633] |
Chr15:89281786 [GRCh38]
Chr15:89825017 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3721-7C>T |
single nucleotide variant |
not provided [RCV000865535]|not specified [RCV000503913] |
Chr15:89314605 [GRCh38]
Chr15:89857836 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile) |
single nucleotide variant |
Fanconi anemia [RCV001223238]|Fanconi anemia complementation group I [RCV002490831]|Inborn genetic diseases [RCV002527250]|not specified [RCV000501811] |
Chr15:89306076 [GRCh38]
Chr15:89849307 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.451C>G (p.Leu151Val) |
single nucleotide variant |
not specified [RCV000503920] |
Chr15:89261826 [GRCh38]
Chr15:89805057 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) |
single nucleotide variant |
Fanconi anemia [RCV000550556]|Fanconi anemia complementation group I [RCV001293992]|not specified [RCV000499688] |
Chr15:89303912 [GRCh38]
Chr15:89847143 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3505A>G (p.Met1169Val) |
single nucleotide variant |
Fanconi anemia [RCV001294256]|not specified [RCV000501944] |
Chr15:89306162 [GRCh38]
Chr15:89849393 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2349C>A (p.Asp783Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004023372]|not specified [RCV000499788] |
Chr15:89293890 [GRCh38]
Chr15:89837121 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1241C>T (p.Pro414Leu) |
single nucleotide variant |
not specified [RCV000502333] |
Chr15:89276839 [GRCh38]
Chr15:89820070 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.96_98del (p.Leu33del) |
deletion |
Fanconi anemia [RCV001865607]|Fanconi anemia complementation group I [RCV002481615]|not specified [RCV000500055] |
Chr15:89258713..89258715 [GRCh38]
Chr15:89801944..89801946 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3656A>G (p.Asp1219Gly) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001039436]|not provided [RCV000497988] |
Chr15:89316815 [GRCh38]
Chr15:89860046 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln) |
single nucleotide variant |
Fanconi anemia [RCV000630843]|Fanconi anemia complementation group I [RCV002481614]|not specified [RCV000502874] |
Chr15:89300329 [GRCh38]
Chr15:89843560 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2547= (p.Lys849=) |
single nucleotide variant |
Fanconi anemia [RCV000860197]|not provided [RCV004715242]|not specified [RCV000508540] |
Chr15:89295005 [GRCh38]
Chr15:89838236 [GRCh37]
Chr15:15q26.1 |
benign |
| GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3 |
pathogenic |
| GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 |
copy number gain |
See cases [RCV000511629] |
Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3 |
likely pathogenic |
| NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr) |
single nucleotide variant |
Fanconi anemia [RCV000699115]|Fanconi anemia complementation group I [RCV002477598]|not specified [RCV001816723] |
Chr15:89261702 [GRCh38]
Chr15:89804933 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3886A>G (p.Met1296Val) |
single nucleotide variant |
FANCI-related disorder [RCV004754511]|Fanconi anemia [RCV000630854]|Fanconi anemia complementation group I [RCV005004283] |
Chr15:89315351 [GRCh38]
Chr15:89858582 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3384G>A (p.Gln1128=) |
single nucleotide variant |
Fanconi anemia [RCV000630978] |
Chr15:89306041 [GRCh38]
Chr15:89849272 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1703A>G (p.His568Arg) |
single nucleotide variant |
FANCI-related disorder [RCV003980218]|Fanconi anemia [RCV000631005]|Fanconi anemia complementation group I [RCV001115981] |
Chr15:89285100 [GRCh38]
Chr15:89828331 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1294-9_1294-8insA |
insertion |
Fanconi anemia [RCV000631034] |
Chr15:89278678..89278679 [GRCh38]
Chr15:89821909..89821910 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.756-4T>G |
single nucleotide variant |
Fanconi anemia [RCV000555933] |
Chr15:89268395 [GRCh38]
Chr15:89811626 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2348A>G (p.Asp783Gly) |
single nucleotide variant |
Fanconi anemia [RCV000630957] |
Chr15:89293889 [GRCh38]
Chr15:89837120 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1939T>C (p.Leu647=) |
single nucleotide variant |
FANCI-related disorder [RCV003945584]|Fanconi anemia [RCV000630965]|Fanconi anemia complementation group I [RCV001119037]|not specified [RCV001821779] |
Chr15:89291661 [GRCh38]
Chr15:89834892 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3834C>T (p.His1278=) |
single nucleotide variant |
Fanconi anemia [RCV000631025] |
Chr15:89315299 [GRCh38]
Chr15:89858530 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3652-9T>C |
single nucleotide variant |
Fanconi anemia [RCV000631030]|Fanconi anemia complementation group I [RCV002499038] |
Chr15:89312895 [GRCh38]
Chr15:89856126 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.670-8_670-6del |
deletion |
Fanconi anemia [RCV000539796] |
Chr15:89264512..89264514 [GRCh38]
Chr15:89807743..89807745 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.557T>C (p.Leu186Pro) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV000767960] |
Chr15:89263914 [GRCh38]
Chr15:89807145 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr) |
single nucleotide variant |
Fanconi anemia [RCV000541605]|Fanconi anemia complementation group I [RCV001117648] |
Chr15:89315297 [GRCh38]
Chr15:89858528 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| Single allele |
duplication |
not provided [RCV000677926] |
Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) |
single nucleotide variant |
FANCI-related disorder [RCV003942729]|Fanconi anemia [RCV000556834]|Fanconi anemia complementation group I [RCV003224317]|not provided [RCV003403254]|not specified [RCV001194161] |
Chr15:89300313 [GRCh38]
Chr15:89843544 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.3310A>C (p.Thr1104Pro) |
single nucleotide variant |
Fanconi anemia [RCV000534723] |
Chr15:89305659 [GRCh38]
Chr15:89848890 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3716del (p.Pro1239fs) |
deletion |
Progressive sclerosing poliodystrophy [RCV000633555] |
Chr15:89316755 [GRCh38]
Chr15:89859986 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.793C>T (p.Arg265Cys) |
single nucleotide variant |
Fanconi anemia [RCV000630835] |
Chr15:89268436 [GRCh38]
Chr15:89811667 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1556T>C (p.Leu519Pro) |
single nucleotide variant |
Fanconi anemia [RCV000630887]|Inborn genetic diseases [RCV004975721] |
Chr15:89281808 [GRCh38]
Chr15:89825039 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1420C>A (p.Leu474Ile) |
single nucleotide variant |
Fanconi anemia [RCV000630919] |
Chr15:89281208 [GRCh38]
Chr15:89824439 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1655G>A (p.Ser552Asn) |
single nucleotide variant |
Fanconi anemia [RCV000630842]|Fanconi anemia complementation group I [RCV005010603] |
Chr15:89283207 [GRCh38]
Chr15:89826438 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.504-3C>T |
single nucleotide variant |
Fanconi anemia [RCV000630886] |
Chr15:89263416 [GRCh38]
Chr15:89806647 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2855_2869delinsTTG (p.Thr952_Phe957delinsIleVal) |
indel |
Fanconi anemia [RCV003522117] |
Chr15:89300351..89300365 [GRCh38]
Chr15:89843582..89843596 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3947G>A (p.Gly1316Glu) |
single nucleotide variant |
Fanconi anemia [RCV000540824]|not provided [RCV000658723] |
Chr15:89316419 [GRCh38]
Chr15:89859650 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2063G>T (p.Gly688Val) |
single nucleotide variant |
Fanconi anemia [RCV000556110] |
Chr15:89292758 [GRCh38]
Chr15:89835989 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1676G>T (p.Ser559Ile) |
single nucleotide variant |
Fanconi anemia [RCV000533835] |
Chr15:89283228 [GRCh38]
Chr15:89826459 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2907A>C (p.Leu969Phe) |
single nucleotide variant |
Fanconi anemia [RCV000557194] |
Chr15:89301343 [GRCh38]
Chr15:89844574 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3652-6C>G |
single nucleotide variant |
Fanconi anemia [RCV000630866] |
Chr15:89312898 [GRCh38]
Chr15:89856129 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile) |
single nucleotide variant |
Fanconi anemia [RCV000630884]|Fanconi anemia complementation group I [RCV002483773] |
Chr15:89306085 [GRCh38]
Chr15:89849316 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3652-10A>G |
single nucleotide variant |
FANCI-related disorder [RCV003935752]|Fanconi anemia [RCV000631035]|Fanconi anemia complementation group I [RCV001121122] |
Chr15:89312894 [GRCh38]
Chr15:89856125 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.284T>A (p.Leu95Gln) |
single nucleotide variant |
Fanconi anemia [RCV000536573]|Fanconi anemia complementation group I [RCV005010490] |
Chr15:89260839 [GRCh38]
Chr15:89804070 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly) |
single nucleotide variant |
Fanconi anemia [RCV000540362]|Fanconi anemia complementation group I [RCV001121005]|not provided [RCV001799675] |
Chr15:89292955 [GRCh38]
Chr15:89836186 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1822-7del |
deletion |
Fanconi anemia [RCV000631016] |
Chr15:89290205 [GRCh38]
Chr15:89833436 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp) |
single nucleotide variant |
Fanconi anemia [RCV000630826]|Fanconi anemia complementation group I [RCV005004282]|not provided [RCV003237963] |
Chr15:89315365 [GRCh38]
Chr15:89858596 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2300G>T (p.Arg767Met) |
single nucleotide variant |
Fanconi anemia [RCV000630838] |
Chr15:89293841 [GRCh38]
Chr15:89837072 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser) |
single nucleotide variant |
Fanconi anemia [RCV000630845]|Fanconi anemia complementation group I [RCV000765229]|not provided [RCV004691960] |
Chr15:89301428 [GRCh38]
Chr15:89844659 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3377C>G (p.Pro1126Arg) |
single nucleotide variant |
Fanconi anemia [RCV000630864]|Inborn genetic diseases [RCV004025392] |
Chr15:89306034 [GRCh38]
Chr15:89849265 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile) |
single nucleotide variant |
Fanconi anemia [RCV000630926]|Fanconi anemia complementation group I [RCV002483775] |
Chr15:89300345 [GRCh38]
Chr15:89843576 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.157+7A>G |
single nucleotide variant |
Fanconi anemia [RCV000630935]|Fanconi anemia complementation group I [RCV002492949] |
Chr15:89258783 [GRCh38]
Chr15:89802014 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln) |
single nucleotide variant |
FANCI-related disorder [RCV003411594]|Fanconi anemia [RCV000685878]|Fanconi anemia complementation group I [RCV002477524]|not specified [RCV001816696] |
Chr15:89303913 [GRCh38]
Chr15:89847144 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3006+13C>T |
single nucleotide variant |
Fanconi anemia [RCV002184866] |
Chr15:89301455 [GRCh38]
Chr15:89844686 [GRCh37]
Chr15:15q26.1 |
likely benign |
| GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 |
copy number gain |
not provided [RCV000683703] |
Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3 |
pathogenic |
| GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 |
copy number gain |
not provided [RCV000683718] |
Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3 |
pathogenic |
| GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 |
copy number gain |
not provided [RCV000683710] |
Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3 |
pathogenic |
| NM_002693.3(POLG):c.3662A>C (p.Tyr1221Ser) |
single nucleotide variant |
not provided [RCV000712806] |
Chr15:89316809 [GRCh38]
Chr15:89860040 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu) |
single nucleotide variant |
Fanconi anemia [RCV000698535]|Fanconi anemia complementation group I [RCV000765227] |
Chr15:89295072 [GRCh38]
Chr15:89838303 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3186+3A>G |
single nucleotide variant |
Fanconi anemia [RCV000698985]|Fanconi anemia complementation group I [RCV005010707] |
Chr15:89305245 [GRCh38]
Chr15:89848476 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) |
single nucleotide variant |
Fanconi anemia [RCV000707454]|Fanconi anemia complementation group I [RCV001849430] |
Chr15:89260772 [GRCh38]
Chr15:89804003 [GRCh37]
Chr15:15q26.1 |
likely pathogenic|uncertain significance |
| NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) |
single nucleotide variant |
Fanconi anemia [RCV000704943]|Fanconi anemia complementation group I [RCV000765230]|Inborn genetic diseases [RCV002534427] |
Chr15:89306156 [GRCh38]
Chr15:89849387 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly) |
single nucleotide variant |
Fanconi anemia [RCV000705220]|Fanconi anemia complementation group I [RCV002485762]|Inborn genetic diseases [RCV004972897] |
Chr15:89281206 [GRCh38]
Chr15:89824437 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3712G>C (p.Gly1238Arg) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000699336] |
Chr15:89316759 [GRCh38]
Chr15:89859990 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3435C>G (p.Phe1145Leu) |
single nucleotide variant |
Fanconi anemia [RCV000689360] |
Chr15:89306092 [GRCh38]
Chr15:89849323 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn) |
single nucleotide variant |
Fanconi anemia [RCV000700338]|Fanconi anemia complementation group I [RCV002485717] |
Chr15:89285162 [GRCh38]
Chr15:89828393 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys) |
single nucleotide variant |
Fanconi anemia [RCV000692972]|Fanconi anemia complementation group I [RCV000765224] |
Chr15:89292766 [GRCh38]
Chr15:89835997 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser) |
single nucleotide variant |
Fanconi anemia [RCV000693233]|Fanconi anemia complementation group I [RCV002477567]|not provided [RCV004692126] |
Chr15:89285136 [GRCh38]
Chr15:89828367 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3053G>A (p.Ser1018Asn) |
single nucleotide variant |
Fanconi anemia [RCV000693310] |
Chr15:89303910 [GRCh38]
Chr15:89847141 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.92A>G (p.Asn31Ser) |
single nucleotide variant |
Fanconi anemia [RCV000690795] |
Chr15:89258711 [GRCh38]
Chr15:89801942 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) |
deletion |
Fanconi anemia [RCV000705229]|Fanconi anemia complementation group I [RCV003460983] |
Chr15:89312913 [GRCh38]
Chr15:89856144 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp) |
single nucleotide variant |
Fanconi anemia [RCV000689000]|Fanconi anemia complementation group I [RCV002485625] |
Chr15:89305409 [GRCh38]
Chr15:89848640 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2098G>A (p.Glu700Lys) |
single nucleotide variant |
Fanconi anemia [RCV000705998] |
Chr15:89292793 [GRCh38]
Chr15:89836024 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2455A>G (p.Arg819Gly) |
single nucleotide variant |
Fanconi anemia [RCV000691970] |
Chr15:89293996 [GRCh38]
Chr15:89837227 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser) |
single nucleotide variant |
Fanconi anemia [RCV000697107]|Fanconi anemia complementation group I [RCV000763986] |
Chr15:89273413 [GRCh38]
Chr15:89816644 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2273T>G (p.Phe758Cys) |
single nucleotide variant |
Fanconi anemia [RCV000706375] |
Chr15:89293045 [GRCh38]
Chr15:89836276 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2393A>G (p.Asn798Ser) |
single nucleotide variant |
Fanconi anemia [RCV000706377] |
Chr15:89293934 [GRCh38]
Chr15:89837165 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) |
duplication |
Fanconi anemia [RCV003768170]|Fanconi anemia complementation group I [RCV003461000]|not provided [RCV000722907] |
Chr15:89293871..89293872 [GRCh38]
Chr15:89837102..89837103 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002693.3(POLG):c.3643+25A>G |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000758552]|not provided [RCV001564207] |
Chr15:89317351 [GRCh38]
Chr15:89860582 [GRCh37]
Chr15:15q26.1 |
likely benign |
| GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 |
copy number gain |
not provided [RCV000738864] |
Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3 |
pathogenic |
| GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 |
copy number gain |
not provided [RCV000751155] |
Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3 |
pathogenic |
| GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 |
copy number gain |
not provided [RCV000751156] |
Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.84+235A>C |
single nucleotide variant |
not provided [RCV001586618] |
Chr15:89247966 [GRCh38]
Chr15:89791197 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1822-156T>C |
single nucleotide variant |
not provided [RCV001678812] |
Chr15:89290057 [GRCh38]
Chr15:89833288 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.-19-149A>G |
single nucleotide variant |
not provided [RCV001645888] |
Chr15:89247480 [GRCh38]
Chr15:89790711 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.883-9C>T |
single nucleotide variant |
Fanconi anemia [RCV000938698] |
Chr15:89273368 [GRCh38]
Chr15:89816599 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NC_000015.10:g.89317297A>G |
single nucleotide variant |
not provided [RCV001565183] |
Chr15:89317297 [GRCh38]
Chr15:89860528 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.509A>T (p.Asp170Val) |
single nucleotide variant |
Fanconi anemia [RCV001065643] |
Chr15:89263424 [GRCh38]
Chr15:89806655 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3677T>A (p.Leu1226His) |
single nucleotide variant |
not provided [RCV003312309] |
Chr15:89316794 [GRCh38]
Chr15:89860025 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3651+220A>G |
single nucleotide variant |
not provided [RCV001613466] |
Chr15:89307892 [GRCh38]
Chr15:89851123 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.503+203A>T |
single nucleotide variant |
not provided [RCV001551274] |
Chr15:89262081 [GRCh38]
Chr15:89805312 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.84+114G>A |
single nucleotide variant |
not provided [RCV001580998] |
Chr15:89247845 [GRCh38]
Chr15:89791076 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys) |
single nucleotide variant |
Fanconi anemia [RCV001044865]|Fanconi anemia complementation group I [RCV005004994] |
Chr15:89261838 [GRCh38]
Chr15:89805069 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.756-164T>C |
single nucleotide variant |
not provided [RCV001584990] |
Chr15:89268235 [GRCh38]
Chr15:89811466 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001116208] |
Chr15:89312939 [GRCh38]
Chr15:89856170 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001116211] |
Chr15:89314700 [GRCh38]
Chr15:89857931 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.84+131A>G |
single nucleotide variant |
not provided [RCV001547494] |
Chr15:89247862 [GRCh38]
Chr15:89791093 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1698+265A>C |
single nucleotide variant |
not provided [RCV001668085] |
Chr15:89283515 [GRCh38]
Chr15:89826746 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr) |
single nucleotide variant |
Fanconi anemia [RCV001856543]|Fanconi anemia complementation group I [RCV001117533]|Inborn genetic diseases [RCV004978028] |
Chr15:89301413 [GRCh38]
Chr15:89844644 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3059-178C>T |
single nucleotide variant |
not provided [RCV001548177] |
Chr15:89304937 [GRCh38]
Chr15:89848168 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1294-285A>G |
single nucleotide variant |
not provided [RCV001692506] |
Chr15:89278402 [GRCh38]
Chr15:89821633 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1890+48G>A |
single nucleotide variant |
not provided [RCV001548567] |
Chr15:89290329 [GRCh38]
Chr15:89833560 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2292-271C>A |
single nucleotide variant |
not provided [RCV001690431] |
Chr15:89293562 [GRCh38]
Chr15:89836793 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.975+43A>G |
single nucleotide variant |
not provided [RCV001583122] |
Chr15:89273512 [GRCh38]
Chr15:89816743 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.975+65_975+66del |
deletion |
not provided [RCV001679374] |
Chr15:89273512..89273513 [GRCh38]
Chr15:89816743..89816744 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter) |
single nucleotide variant |
Fanconi anemia [RCV001615389]|Fanconi anemia complementation group I [RCV005005266] |
Chr15:89315372 [GRCh38]
Chr15:89858603 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1513-152C>T |
single nucleotide variant |
not provided [RCV001645621] |
Chr15:89281613 [GRCh38]
Chr15:89824844 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.363A>G (p.Leu121=) |
single nucleotide variant |
Fanconi anemia [RCV002542225] |
Chr15:89261659 [GRCh38]
Chr15:89804890 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1146C>T (p.Leu382=) |
single nucleotide variant |
Fanconi anemia [RCV002065937] |
Chr15:89276744 [GRCh38]
Chr15:89819975 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.755+9T>C |
single nucleotide variant |
Fanconi anemia [RCV001488340] |
Chr15:89264616 [GRCh38]
Chr15:89807847 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=) |
single nucleotide variant |
Fanconi anemia [RCV002064466]|Inborn genetic diseases [RCV002319962]|not provided [RCV003396500] |
Chr15:89305170 [GRCh38]
Chr15:89848401 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3165G>A (p.Gly1055=) |
single nucleotide variant |
Fanconi anemia [RCV001417986] |
Chr15:89305221 [GRCh38]
Chr15:89848452 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1821+9G>A |
single nucleotide variant |
Fanconi anemia [RCV001430917] |
Chr15:89285227 [GRCh38]
Chr15:89828458 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3330G>A (p.Val1110=) |
single nucleotide variant |
not provided [RCV000926627] |
Chr15:89305679 [GRCh38]
Chr15:89848910 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3210C>T (p.Asn1070=) |
single nucleotide variant |
Fanconi anemia [RCV003523028] |
Chr15:89305364 [GRCh38]
Chr15:89848595 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1398C>T (p.Ile466=) |
single nucleotide variant |
Fanconi anemia [RCV000868876]|Fanconi anemia complementation group I [RCV001120905] |
Chr15:89281186 [GRCh38]
Chr15:89824417 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.558G>C (p.Leu186=) |
single nucleotide variant |
Fanconi anemia [RCV001417568] |
Chr15:89263915 [GRCh38]
Chr15:89807146 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.976-5T>C |
single nucleotide variant |
Fanconi anemia [RCV000871773]|Fanconi anemia complementation group I [RCV002501313] |
Chr15:89274163 [GRCh38]
Chr15:89817394 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3256-9T>C |
single nucleotide variant |
Fanconi anemia [RCV002064529]|not specified [RCV003387940] |
Chr15:89305596 [GRCh38]
Chr15:89848827 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3538-2A>T |
single nucleotide variant |
Fanconi anemia [RCV001053088] |
Chr15:89307474 [GRCh38]
Chr15:89850705 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser) |
single nucleotide variant |
Fanconi anemia [RCV001053243] |
Chr15:89299815 [GRCh38]
Chr15:89843046 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg) |
single nucleotide variant |
Fanconi anemia [RCV001071618] |
Chr15:89261600 [GRCh38]
Chr15:89804831 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro) |
single nucleotide variant |
Fanconi anemia [RCV001059477] |
Chr15:89281253 [GRCh38]
Chr15:89824484 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe) |
single nucleotide variant |
Fanconi anemia [RCV001048382] |
Chr15:89305408 [GRCh38]
Chr15:89848639 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3673dup (p.Glu1225fs) |
duplication |
Progressive sclerosing poliodystrophy [RCV000758491] |
Chr15:89316797..89316798 [GRCh38]
Chr15:89860028..89860029 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp) |
single nucleotide variant |
Fanconi anemia [RCV001855716]|Fanconi anemia complementation group I [RCV000767961] |
Chr15:89285140 [GRCh38]
Chr15:89828371 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.150C>T (p.Ile50=) |
single nucleotide variant |
not provided [RCV000933010] |
Chr15:89258769 [GRCh38]
Chr15:89802000 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=) |
single nucleotide variant |
Fanconi anemia [RCV002064823]|Fanconi anemia complementation group I [RCV002507533] |
Chr15:89293875 [GRCh38]
Chr15:89837106 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.324A>G (p.Leu108=) |
single nucleotide variant |
Fanconi anemia [RCV001497143] |
Chr15:89261620 [GRCh38]
Chr15:89804851 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3720+10T>C |
single nucleotide variant |
FANCI-related disorder [RCV003895322]|Fanconi anemia [RCV001400093] |
Chr15:89312982 [GRCh38]
Chr15:89856213 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1112+8G>C |
single nucleotide variant |
Fanconi anemia [RCV001393060]|Fanconi anemia complementation group I [RCV002501319] |
Chr15:89274312 [GRCh38]
Chr15:89817543 [GRCh37]
Chr15:15q26.1 |
likely benign |
| GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) |
copy number loss |
not provided [RCV000767759] |
Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.669+8T>C |
single nucleotide variant |
Fanconi anemia [RCV000958381] |
Chr15:89264034 [GRCh38]
Chr15:89807265 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.956T>C (p.Ile319Thr) |
single nucleotide variant |
Fanconi anemia [RCV000792994] |
Chr15:89273450 [GRCh38]
Chr15:89816681 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2776A>C (p.Lys926Gln) |
single nucleotide variant |
Fanconi anemia [RCV000797203] |
Chr15:89299939 [GRCh38]
Chr15:89843170 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3965C>T (p.Ala1322Val) |
single nucleotide variant |
Fanconi anemia [RCV000817573] |
Chr15:89316437 [GRCh38]
Chr15:89859668 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1972A>T (p.Ile658Phe) |
single nucleotide variant |
Fanconi anemia [RCV000823437]|Fanconi anemia complementation group I [RCV005004453] |
Chr15:89291694 [GRCh38]
Chr15:89834925 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met) |
single nucleotide variant |
Fanconi anemia [RCV000803126]|Fanconi anemia complementation group I [RCV005004434] |
Chr15:89316449 [GRCh38]
Chr15:89859680 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg) |
single nucleotide variant |
Fanconi anemia [RCV000794419]|Fanconi anemia complementation group I [RCV001270866] |
Chr15:89306123 [GRCh38]
Chr15:89849354 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3016A>G (p.Met1006Val) |
single nucleotide variant |
Fanconi anemia [RCV000816413] |
Chr15:89303873 [GRCh38]
Chr15:89847104 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1867G>A (p.Val623Ile) |
single nucleotide variant |
Fanconi anemia [RCV000824459] |
Chr15:89290258 [GRCh38]
Chr15:89833489 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.10:g.(?_89290203)_(89291724_?)del |
deletion |
Fanconi anemia [RCV000807254] |
Chr15:89290203..89291724 [GRCh38]
Chr15:89833434..89834955 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs) |
duplication |
Fanconi anemia [RCV000814808] |
Chr15:89312920..89312921 [GRCh38]
Chr15:89856151..89856152 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1250A>G (p.His417Arg) |
single nucleotide variant |
Fanconi anemia [RCV000800222]|Fanconi anemia complementation group I [RCV002495064]|not provided [RCV004723198] |
Chr15:89276848 [GRCh38]
Chr15:89820079 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.2:c.3643+257T>G |
single nucleotide variant |
not provided [RCV000840517] |
Chr15:89860350 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del) |
microsatellite |
Fanconi anemia [RCV000791702]|Fanconi anemia complementation group I [RCV002501037] |
Chr15:89274219..89274221 [GRCh38]
Chr15:89817450..89817452 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3643+226C>G |
single nucleotide variant |
not provided [RCV000836906] |
Chr15:89317150 [GRCh38]
Chr15:89860381 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3283G>A (p.Val1095Ile) |
single nucleotide variant |
Fanconi anemia [RCV000803983] |
Chr15:89305632 [GRCh38]
Chr15:89848863 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.2:c.3644-99C>T |
single nucleotide variant |
not provided [RCV000835404] |
Chr15:89860157 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3674A>G (p.Tyr1225Cys) |
single nucleotide variant |
Fanconi anemia [RCV000818806] |
Chr15:89312926 [GRCh38]
Chr15:89856157 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3220A>T (p.Ile1074Leu) |
single nucleotide variant |
Fanconi anemia [RCV000806833] |
Chr15:89305374 [GRCh38]
Chr15:89848605 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.329A>G (p.Asn110Ser) |
single nucleotide variant |
Fanconi anemia [RCV000804125]|Fanconi anemia complementation group I [RCV005004435]|Inborn genetic diseases [RCV002537174] |
Chr15:89261625 [GRCh38]
Chr15:89804856 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.475C>G (p.Gln159Glu) |
single nucleotide variant |
Fanconi anemia [RCV000807175] |
Chr15:89261850 [GRCh38]
Chr15:89805081 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3000_3004del (p.Pro1001fs) |
microsatellite |
Fanconi anemia [RCV000807393] |
Chr15:89301430..89301434 [GRCh38]
Chr15:89844661..89844665 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2533G>A (p.Val845Ile) |
single nucleotide variant |
Fanconi anemia [RCV000791661] |
Chr15:89294991 [GRCh38]
Chr15:89838222 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3505A>T (p.Met1169Leu) |
single nucleotide variant |
Fanconi anemia [RCV000824155] |
Chr15:89306162 [GRCh38]
Chr15:89849393 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q26.1(chr15:89828317-89874912)x1 |
copy number loss |
not provided [RCV000847319] |
Chr15:89828317..89874912 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1531A>C (p.Met511Leu) |
single nucleotide variant |
Fanconi anemia [RCV000818536] |
Chr15:89281783 [GRCh38]
Chr15:89825014 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.2:c.3643+258A>G |
single nucleotide variant |
not provided [RCV000840824] |
Chr15:89860349 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_002693.3(POLG):c.*420A>G |
single nucleotide variant |
Mitochondrial disease [RCV001759884]|POLG-Related Spectrum Disorders [RCV001117652] |
Chr15:89316331 [GRCh38]
Chr15:89859562 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser) |
single nucleotide variant |
Fanconi anemia [RCV001067213] |
Chr15:89281765 [GRCh38]
Chr15:89824996 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu) |
single nucleotide variant |
Fanconi anemia [RCV003635941]|Fanconi anemia complementation group I [RCV001116090] |
Chr15:89295047 [GRCh38]
Chr15:89838278 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3187-3C>G |
single nucleotide variant |
Fanconi anemia [RCV001046225] |
Chr15:89305338 [GRCh38]
Chr15:89848569 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3643+180G>A |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000758413]|not provided [RCV000826748] |
Chr15:89317196 [GRCh38]
Chr15:89860427 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001119130]|not specified [RCV001819829] |
Chr15:89306100 [GRCh38]
Chr15:89849331 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) |
single nucleotide variant |
Fanconi anemia [RCV001304617]|Fanconi anemia complementation group I [RCV001118940]|Inborn genetic diseases [RCV002556532]|not provided [RCV003223699] |
Chr15:89274244 [GRCh38]
Chr15:89817475 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3162C>T (p.His1054=) |
single nucleotide variant |
Fanconi anemia [RCV002069934]|Fanconi anemia complementation group I [RCV001119127] |
Chr15:89305218 [GRCh38]
Chr15:89848449 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.696A>T (p.Gly232=) |
single nucleotide variant |
Fanconi anemia [RCV003769158]|Fanconi anemia complementation group I [RCV001117327] |
Chr15:89264548 [GRCh38]
Chr15:89807779 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile) |
single nucleotide variant |
Fanconi anemia [RCV000806618]|Fanconi anemia complementation group I [RCV002478869] |
Chr15:89300341 [GRCh38]
Chr15:89843572 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.488C>A (p.Thr163Asn) |
single nucleotide variant |
Fanconi anemia [RCV000795911]|Fanconi anemia complementation group I [RCV005004428] |
Chr15:89261863 [GRCh38]
Chr15:89805094 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3677C>T (p.Thr1226Met) |
single nucleotide variant |
Fanconi anemia [RCV000802051] |
Chr15:89312929 [GRCh38]
Chr15:89856160 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1891-3C>T |
single nucleotide variant |
FANCI-related disorder [RCV003918281]|Fanconi anemia [RCV000822522] |
Chr15:89291610 [GRCh38]
Chr15:89834841 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys) |
single nucleotide variant |
Fanconi anemia [RCV000813245]|Fanconi anemia complementation group I [RCV003483738] |
Chr15:89315383 [GRCh38]
Chr15:89858614 [GRCh37]
Chr15:15q26.1 |
uncertain significance|not provided |
| NM_001113378.2(FANCI):c.1557T>C (p.Leu519=) |
single nucleotide variant |
FANCI-related disorder [RCV003892778]|Fanconi anemia [RCV002064439] |
Chr15:89281809 [GRCh38]
Chr15:89825040 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.258G>A (p.Ala86=) |
single nucleotide variant |
Fanconi anemia [RCV002062240] |
Chr15:89260813 [GRCh38]
Chr15:89804044 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg) |
single nucleotide variant |
Fanconi anemia [RCV000795048]|Fanconi anemia complementation group I [RCV001194985] |
Chr15:89307625 [GRCh38]
Chr15:89850856 [GRCh37]
Chr15:15q26.1 |
pathogenic|uncertain significance |
| NM_001113378.2(FANCI):c.948A>T (p.Val316=) |
single nucleotide variant |
not provided [RCV000918661] |
Chr15:89273442 [GRCh38]
Chr15:89816673 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3234A>G (p.Arg1078=) |
single nucleotide variant |
Fanconi anemia [RCV001456945] |
Chr15:89305388 [GRCh38]
Chr15:89848619 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3908A>G (p.Glu1303Gly) |
single nucleotide variant |
Fanconi anemia [RCV000814254] |
Chr15:89315373 [GRCh38]
Chr15:89858604 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val) |
single nucleotide variant |
Fanconi anemia [RCV000823708]|Fanconi anemia complementation group I [RCV001121115] |
Chr15:89306114 [GRCh38]
Chr15:89849345 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu) |
single nucleotide variant |
Fanconi anemia [RCV000809747]|Fanconi anemia complementation group I [RCV002487749] |
Chr15:89299847 [GRCh38]
Chr15:89843078 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2188T>C (p.Ser730Pro) |
single nucleotide variant |
Fanconi anemia [RCV000814499] |
Chr15:89292960 [GRCh38]
Chr15:89836191 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.-56T>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001120810] |
Chr15:89243997 [GRCh38]
Chr15:89787228 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) |
deletion |
Fanconi anemia complementation group A [RCV000989376]|Fanconi anemia complementation group I [RCV002505500] |
Chr15:89305174 [GRCh38]
Chr15:89848405 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001194984] |
Chr15:89306178 [GRCh38]
Chr15:89849409 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) |
single nucleotide variant |
Fanconi anemia [RCV001876264]|Fanconi anemia complementation group I [RCV001194991] |
Chr15:89268509 [GRCh38]
Chr15:89811740 [GRCh37]
Chr15:15q26.1 |
pathogenic|uncertain significance |
| NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) |
single nucleotide variant |
Fanconi anemia [RCV003523081]|Fanconi anemia complementation group I [RCV002484061]|Gastric cancer [RCV001194996] |
Chr15:89285201 [GRCh38]
Chr15:89828432 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001117438] |
Chr15:89290240 [GRCh38]
Chr15:89833471 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001119039] |
Chr15:89292749 [GRCh38]
Chr15:89835980 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1185A>C (p.Pro395=) |
single nucleotide variant |
Fanconi anemia [RCV001437593] |
Chr15:89276783 [GRCh38]
Chr15:89820014 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2636+11C>G |
single nucleotide variant |
Fanconi anemia [RCV002067584]|Fanconi anemia complementation group A [RCV000989375] |
Chr15:89295105 [GRCh38]
Chr15:89838336 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3652-70_3652-69del |
deletion |
Fanconi anemia complementation group A [RCV000989377]|not provided [RCV001615097] |
Chr15:89312817..89312818 [GRCh38]
Chr15:89856048..89856049 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del) |
deletion |
Fanconi anemia complementation group I [RCV001194989] |
Chr15:89316397..89317131 [GRCh38]
Chr15:89859628..89860362 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.756-25_756-19del |
deletion |
Fanconi anemia complementation group I [RCV001194990] |
Chr15:89268372..89268378 [GRCh38]
Chr15:89811603..89811609 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3006+3A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001195000] |
Chr15:89301445 [GRCh38]
Chr15:89844676 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3007-41T>C |
single nucleotide variant |
not provided [RCV001564164] |
Chr15:89303823 [GRCh38]
Chr15:89847054 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1643A>C (p.Lys548Thr) |
single nucleotide variant |
Fanconi anemia [RCV001213942] |
Chr15:89283195 [GRCh38]
Chr15:89826426 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1113C>T (p.Ser371=) |
single nucleotide variant |
Fanconi anemia [RCV001203034]|Inborn genetic diseases [RCV004978092] |
Chr15:89276711 [GRCh38]
Chr15:89819942 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3515C>T (p.Thr1172Ile) |
single nucleotide variant |
Fanconi anemia [RCV001226328] |
Chr15:89306172 [GRCh38]
Chr15:89849403 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2366C>T (p.Ala789Val) |
single nucleotide variant |
Fanconi anemia [RCV001231391] |
Chr15:89293907 [GRCh38]
Chr15:89837138 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) |
single nucleotide variant |
Fanconi anemia [RCV001220139]|Fanconi anemia complementation group I [RCV002504274] |
Chr15:89307658 [GRCh38]
Chr15:89850889 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3481A>G (p.Thr1161Ala) |
single nucleotide variant |
Fanconi anemia [RCV001216260] |
Chr15:89306138 [GRCh38]
Chr15:89849369 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3382C>G (p.Gln1128Glu) |
single nucleotide variant |
Fanconi anemia [RCV001239476] |
Chr15:89306039 [GRCh38]
Chr15:89849270 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3061G>T (p.Asp1021Tyr) |
single nucleotide variant |
Fanconi anemia [RCV001239202] |
Chr15:89305117 [GRCh38]
Chr15:89848348 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.811A>G (p.Ile271Val) |
single nucleotide variant |
Fanconi anemia [RCV001205405]|Fanconi anemia complementation group I [RCV002497696] |
Chr15:89268454 [GRCh38]
Chr15:89811685 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn) |
single nucleotide variant |
Fanconi anemia [RCV001237512] |
Chr15:89305222 [GRCh38]
Chr15:89848453 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile) |
single nucleotide variant |
Fanconi anemia [RCV001237516] |
Chr15:89281205 [GRCh38]
Chr15:89824436 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.22C>G (p.Leu8Val) |
single nucleotide variant |
Fanconi anemia [RCV001227020] |
Chr15:89247669 [GRCh38]
Chr15:89790900 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln) |
single nucleotide variant |
Fanconi anemia [RCV001214638]|Fanconi anemia complementation group I [RCV002484173] |
Chr15:89315361 [GRCh38]
Chr15:89858592 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.13A>G (p.Ile5Val) |
single nucleotide variant |
Fanconi anemia [RCV001043156]|Fanconi anemia complementation group I [RCV002481900] |
Chr15:89247660 [GRCh38]
Chr15:89790891 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg) |
single nucleotide variant |
Fanconi anemia [RCV001224026]|Fanconi anemia complementation group I [RCV005005095] |
Chr15:89268482 [GRCh38]
Chr15:89811713 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3064G>T (p.Ala1022Ser) |
single nucleotide variant |
Fanconi anemia [RCV001224290] |
Chr15:89305120 [GRCh38]
Chr15:89848351 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg) |
single nucleotide variant |
Fanconi anemia [RCV001235717]|Fanconi anemia complementation group I [RCV002504327] |
Chr15:89306178 [GRCh38]
Chr15:89849409 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala) |
single nucleotide variant |
Fanconi anemia [RCV001225559] |
Chr15:89293939 [GRCh38]
Chr15:89837170 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro) |
single nucleotide variant |
Fanconi anemia [RCV001201810] |
Chr15:89261658 [GRCh38]
Chr15:89804889 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3255+1G>C |
single nucleotide variant |
Fanconi anemia [RCV001232704]|Fanconi anemia complementation group I [RCV003469419] |
Chr15:89305410 [GRCh38]
Chr15:89848641 [GRCh37]
Chr15:15q26.1 |
likely pathogenic|uncertain significance |
| NM_002693.3(POLG):c.3701_3702insT (p.Ser1235fs) |
insertion |
Progressive sclerosing poliodystrophy [RCV001215530] |
Chr15:89316769..89316770 [GRCh38]
Chr15:89860000..89860001 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1046T>G (p.Phe349Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003292046] |
Chr15:89274238 [GRCh38]
Chr15:89817469 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2286T>A (p.Ser762Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003273585] |
Chr15:89293058 [GRCh38]
Chr15:89836289 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3592-12C>T |
single nucleotide variant |
Fanconi anemia [RCV002556604]|Fanconi anemia complementation group I [RCV001121119] |
Chr15:89307601 [GRCh38]
Chr15:89850832 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp) |
single nucleotide variant |
Fanconi anemia [RCV001373497]|Fanconi anemia complementation group I [RCV001117532] |
Chr15:89300374 [GRCh38]
Chr15:89843605 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.2(POLG):c.*434C>T |
single nucleotide variant |
POLG-Related Spectrum Disorders [RCV001117651] |
Chr15:89316317 [GRCh38]
Chr15:89859548 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.883-4C>G |
single nucleotide variant |
Fanconi anemia [RCV001246059] |
Chr15:89273373 [GRCh38]
Chr15:89816604 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001116209] |
Chr15:89312970 [GRCh38]
Chr15:89856201 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1956G>C (p.Leu652=) |
single nucleotide variant |
Fanconi anemia [RCV003635938]|not provided [RCV001093437] |
Chr15:89291678 [GRCh38]
Chr15:89834909 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1361C>G (p.Ser454Cys) |
single nucleotide variant |
Fanconi anemia [RCV003104946] |
Chr15:89278754 [GRCh38]
Chr15:89821985 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89801915)_(89802027_?)del |
deletion |
Fanconi anemia [RCV003105421] |
Chr15:89801915..89802027 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NC_000015.9:g.(?_89801915)_(89828469_?)del |
deletion |
Fanconi anemia [RCV003105422] |
Chr15:89801915..89828469 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89790879)_(89825086_?)dup |
duplication |
Fanconi anemia [RCV003105423] |
Chr15:89790879..89825086 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2457-12_2457-3del |
deletion |
Fanconi anemia [RCV003104631] |
Chr15:89294894..89294903 [GRCh38]
Chr15:89838125..89838134 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2550A>G (p.Val850=) |
single nucleotide variant |
Fanconi anemia [RCV003106886] |
Chr15:89295008 [GRCh38]
Chr15:89838239 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-6T>G |
single nucleotide variant |
Fanconi anemia [RCV003106888] |
Chr15:89316391 [GRCh38]
Chr15:89859622 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.599G>T (p.Ser200Ile) |
single nucleotide variant |
Fanconi anemia [RCV003106894] |
Chr15:89263956 [GRCh38]
Chr15:89807187 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.670-227G>A |
single nucleotide variant |
not provided [RCV001581584] |
Chr15:89264295 [GRCh38]
Chr15:89807526 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2291+251C>G |
single nucleotide variant |
not provided [RCV001576855] |
Chr15:89293314 [GRCh38]
Chr15:89836545 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.289-163T>C |
single nucleotide variant |
not provided [RCV001546502] |
Chr15:89261422 [GRCh38]
Chr15:89804653 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.84+150A>G |
single nucleotide variant |
not provided [RCV001577578] |
Chr15:89247881 [GRCh38]
Chr15:89791112 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.975+64_975+66del |
deletion |
not provided [RCV001686708] |
Chr15:89273512..89273514 [GRCh38]
Chr15:89816743..89816745 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3817-255T>C |
single nucleotide variant |
not provided [RCV001659652] |
Chr15:89315027 [GRCh38]
Chr15:89858258 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2636+289_2636+290del |
deletion |
not provided [RCV001534187] |
Chr15:89295367..89295368 [GRCh38]
Chr15:89838598..89838599 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.883-51del |
deletion |
not provided [RCV001615799] |
Chr15:89273311 [GRCh38]
Chr15:89816542 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.975+64_975+66dup |
duplication |
not provided [RCV001655556] |
Chr15:89273511..89273512 [GRCh38]
Chr15:89816742..89816743 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.669+103G>A |
single nucleotide variant |
not provided [RCV001659350] |
Chr15:89264129 [GRCh38]
Chr15:89807360 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2292-120T>C |
single nucleotide variant |
not provided [RCV001649433] |
Chr15:89293713 [GRCh38]
Chr15:89836944 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3059-322del |
deletion |
not provided [RCV001595343] |
Chr15:89304778 [GRCh38]
Chr15:89848009 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3925-135G>A |
single nucleotide variant |
not provided [RCV001641563] |
Chr15:89316262 [GRCh38]
Chr15:89859493 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1822-279T>C |
single nucleotide variant |
not provided [RCV001680024] |
Chr15:89289934 [GRCh38]
Chr15:89833165 [GRCh37]
Chr15:15q26.1 |
benign |
| NC_000015.10:g.89317261A>G |
single nucleotide variant |
not provided [RCV001592235] |
Chr15:89317261 [GRCh38]
Chr15:89860492 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-251A>G |
single nucleotide variant |
not provided [RCV001710801] |
Chr15:89316146 [GRCh38]
Chr15:89859377 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.882+139del |
deletion |
not provided [RCV001609130] |
Chr15:89268652 [GRCh38]
Chr15:89811883 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3816+28A>G |
single nucleotide variant |
not provided [RCV001715333] |
Chr15:89314735 [GRCh38]
Chr15:89857966 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.976-112T>C |
single nucleotide variant |
not provided [RCV001552846] |
Chr15:89274056 [GRCh38]
Chr15:89817287 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3255+9T>A |
single nucleotide variant |
Fanconi anemia [RCV001464399] |
Chr15:89305418 [GRCh38]
Chr15:89848649 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.228G>A (p.Val76=) |
single nucleotide variant |
Fanconi anemia [RCV001402805] |
Chr15:89260783 [GRCh38]
Chr15:89804014 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-9_3644-6dup |
duplication |
POLG-related disorder [RCV003985827]|Progressive sclerosing poliodystrophy [RCV000862750] |
Chr15:89316832..89316833 [GRCh38]
Chr15:89860063..89860064 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.446-4C>A |
single nucleotide variant |
Fanconi anemia [RCV001436351] |
Chr15:89261817 [GRCh38]
Chr15:89805048 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3059-4C>T |
single nucleotide variant |
Fanconi anemia [RCV000870462] |
Chr15:89305111 [GRCh38]
Chr15:89848342 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.819A>T (p.Leu273=) |
single nucleotide variant |
Fanconi anemia [RCV000919982] |
Chr15:89268462 [GRCh38]
Chr15:89811693 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) |
single nucleotide variant |
Fanconi anemia [RCV000861177]|Fanconi anemia complementation group I [RCV001115983]|not provided [RCV003396495] |
Chr15:89285146 [GRCh38]
Chr15:89828377 [GRCh37]
Chr15:15q26.1 |
benign|likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3243C>G (p.Ala1081=) |
single nucleotide variant |
not provided [RCV000929934] |
Chr15:89305397 [GRCh38]
Chr15:89848628 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.595T>C (p.Leu199=) |
single nucleotide variant |
Fanconi anemia [RCV000871905] |
Chr15:89263952 [GRCh38]
Chr15:89807183 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2577G>C (p.Val859=) |
single nucleotide variant |
Fanconi anemia [RCV001473218]|not specified [RCV001817039] |
Chr15:89295035 [GRCh38]
Chr15:89838266 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.705C>T (p.Ala235=) |
single nucleotide variant |
Fanconi anemia [RCV000872551]|Fanconi anemia complementation group I [RCV002501321] |
Chr15:89264557 [GRCh38]
Chr15:89807788 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1479T>G (p.Leu493=) |
single nucleotide variant |
Fanconi anemia [RCV000918626] |
Chr15:89281267 [GRCh38]
Chr15:89824498 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3171G>A (p.Leu1057=) |
single nucleotide variant |
Fanconi anemia [RCV001226221] |
Chr15:89305227 [GRCh38]
Chr15:89848458 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala) |
single nucleotide variant |
Fanconi anemia [RCV001244711]|Fanconi anemia complementation group I [RCV003448384]|Inborn genetic diseases [RCV002564088] |
Chr15:89299850 [GRCh38]
Chr15:89843081 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2457-2A>G |
single nucleotide variant |
Fanconi anemia [RCV003635947]|not provided [RCV001200104] |
Chr15:89294913 [GRCh38]
Chr15:89838144 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr) |
single nucleotide variant |
Fanconi anemia [RCV001207937] |
Chr15:89299856 [GRCh38]
Chr15:89843087 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1639delinsGTTC (p.Phe547delinsValLeu) |
indel |
Fanconi anemia [RCV001243021] |
Chr15:89283191 [GRCh38]
Chr15:89826422 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001115982] |
Chr15:89285115 [GRCh38]
Chr15:89828346 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2685G>A (p.Ser895=) |
single nucleotide variant |
Fanconi anemia [RCV001458574]|Fanconi anemia complementation group I [RCV001116091] |
Chr15:89299848 [GRCh38]
Chr15:89843079 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001116210] |
Chr15:89314645 [GRCh38]
Chr15:89857876 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1544A>G (p.Asp515Gly) |
single nucleotide variant |
Fanconi anemia [RCV001220563] |
Chr15:89281796 [GRCh38]
Chr15:89825027 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.746G>A (p.Ser249Asn) |
single nucleotide variant |
Fanconi anemia [RCV001224766] |
Chr15:89264598 [GRCh38]
Chr15:89807829 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2636+3A>G |
single nucleotide variant |
Fanconi anemia [RCV001211775] |
Chr15:89295097 [GRCh38]
Chr15:89838328 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln) |
single nucleotide variant |
Fanconi anemia [RCV001045910] |
Chr15:89295060 [GRCh38]
Chr15:89838291 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1890+10A>G |
single nucleotide variant |
Fanconi anemia [RCV002069897]|Fanconi anemia complementation group I [RCV001117439] |
Chr15:89290291 [GRCh38]
Chr15:89833522 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) |
single nucleotide variant |
Fanconi anemia [RCV001320447]|Fanconi anemia complementation group I [RCV001117650]|not specified [RCV001819827] |
Chr15:89315372 [GRCh38]
Chr15:89858603 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001121117]|not provided [RCV004809020] |
Chr15:89306194 [GRCh38]
Chr15:89849425 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_002693.3(POLG):c.3688T>G (p.Ser1230Ala) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001235222] |
Chr15:89316783 [GRCh38]
Chr15:89860014 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu) |
single nucleotide variant |
Fanconi anemia [RCV001218164] |
Chr15:89276784 [GRCh38]
Chr15:89820015 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2104C>T (p.Leu702=) |
single nucleotide variant |
Fanconi anemia [RCV000933868] |
Chr15:89292799 [GRCh38]
Chr15:89836030 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3683A>G (p.Lys1228Arg) |
single nucleotide variant |
not provided [RCV000992690] |
Chr15:89316788 [GRCh38]
Chr15:89860019 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3637C>T (p.Pro1213Ser) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001089982]|not provided [RCV004797902] |
Chr15:89317382 [GRCh38]
Chr15:89860613 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.289-306dup |
duplication |
not provided [RCV001659519] |
Chr15:89261270..89261271 [GRCh38]
Chr15:89804501..89804502 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3652-69del |
deletion |
not provided [RCV001659565] |
Chr15:89312817 [GRCh38]
Chr15:89856048 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3538-239C>A |
single nucleotide variant |
not provided [RCV001571824] |
Chr15:89307237 [GRCh38]
Chr15:89850468 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3721-39T>C |
single nucleotide variant |
not provided [RCV001676861] |
Chr15:89314573 [GRCh38]
Chr15:89857804 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.975+10dup |
duplication |
Fanconi anemia [RCV003523099]|not provided [RCV001579508] |
Chr15:89273472..89273473 [GRCh38]
Chr15:89816703..89816704 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.419A>G (p.Lys140Arg) |
single nucleotide variant |
not provided [RCV001557164] |
Chr15:89261715 [GRCh38]
Chr15:89804946 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3006+103T>A |
single nucleotide variant |
not provided [RCV001548461] |
Chr15:89301545 [GRCh38]
Chr15:89844776 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1891-261T>C |
single nucleotide variant |
not provided [RCV002469794] |
Chr15:89291352 [GRCh38]
Chr15:89834583 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.756-148T>C |
single nucleotide variant |
not provided [RCV001688917] |
Chr15:89268251 [GRCh38]
Chr15:89811482 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.756-313A>G |
single nucleotide variant |
not provided [RCV001552786] |
Chr15:89268086 [GRCh38]
Chr15:89811317 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.882+139dup |
duplication |
not provided [RCV001555185] |
Chr15:89268651..89268652 [GRCh38]
Chr15:89811882..89811883 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2889+275A>G |
single nucleotide variant |
not provided [RCV002469751] |
Chr15:89300660 [GRCh38]
Chr15:89843891 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2804-75A>G |
single nucleotide variant |
not provided [RCV001560893] |
Chr15:89300225 [GRCh38]
Chr15:89843456 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3652-192C>T |
single nucleotide variant |
not provided [RCV001576507] |
Chr15:89312712 [GRCh38]
Chr15:89855943 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2890-145G>T |
single nucleotide variant |
not provided [RCV001596646] |
Chr15:89301181 [GRCh38]
Chr15:89844412 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3059-322dup |
duplication |
not provided [RCV001556152] |
Chr15:89304777..89304778 [GRCh38]
Chr15:89848008..89848009 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3816+93G>C |
single nucleotide variant |
not provided [RCV002469855] |
Chr15:89314800 [GRCh38]
Chr15:89858031 [GRCh37]
Chr15:15q26.1 |
likely benign |
| GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 |
copy number loss |
not provided [RCV001006718] |
Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.158-213G>A |
single nucleotide variant |
not provided [RCV001715834] |
Chr15:89260500 [GRCh38]
Chr15:89803731 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3255+93C>G |
single nucleotide variant |
not provided [RCV001687112] |
Chr15:89305502 [GRCh38]
Chr15:89848733 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.975+42T>C |
single nucleotide variant |
not provided [RCV001713655] |
Chr15:89273511 [GRCh38]
Chr15:89816742 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1382-143A>C |
single nucleotide variant |
not provided [RCV001608377] |
Chr15:89281027 [GRCh38]
Chr15:89824258 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3006+187G>A |
single nucleotide variant |
not provided [RCV001639098] |
Chr15:89301629 [GRCh38]
Chr15:89844860 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.503+221G>A |
single nucleotide variant |
not provided [RCV001616359] |
Chr15:89262099 [GRCh38]
Chr15:89805330 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.158-121G>A |
single nucleotide variant |
not provided [RCV001688053] |
Chr15:89260592 [GRCh38]
Chr15:89803823 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1112+154G>C |
single nucleotide variant |
not provided [RCV001688987] |
Chr15:89274458 [GRCh38]
Chr15:89817689 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.975+66del |
deletion |
not provided [RCV001676191] |
Chr15:89273512 [GRCh38]
Chr15:89816743 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3652-191G>T |
single nucleotide variant |
not provided [RCV001715142] |
Chr15:89312713 [GRCh38]
Chr15:89855944 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.755+215C>G |
single nucleotide variant |
not provided [RCV001594257] |
Chr15:89264822 [GRCh38]
Chr15:89808053 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1513-52C>G |
single nucleotide variant |
not provided [RCV001595462] |
Chr15:89281713 [GRCh38]
Chr15:89824944 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3006+176C>T |
single nucleotide variant |
not provided [RCV001688535] |
Chr15:89301618 [GRCh38]
Chr15:89844849 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.975+44A>C |
single nucleotide variant |
not provided [RCV001588080] |
Chr15:89273513 [GRCh38]
Chr15:89816744 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.883-67del |
deletion |
not provided [RCV001715833] |
Chr15:89273300 [GRCh38]
Chr15:89816531 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3350-109G>A |
single nucleotide variant |
not provided [RCV001674108] |
Chr15:89305898 [GRCh38]
Chr15:89849129 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.975+255A>T |
single nucleotide variant |
not provided [RCV001598613] |
Chr15:89273724 [GRCh38]
Chr15:89816955 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.975+286_975+288del |
microsatellite |
not provided [RCV001638248] |
Chr15:89273752..89273754 [GRCh38]
Chr15:89816983..89816985 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3720+47G>A |
single nucleotide variant |
not provided [RCV001654193] |
Chr15:89313019 [GRCh38]
Chr15:89856250 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2889+128G>A |
single nucleotide variant |
not provided [RCV001684171] |
Chr15:89300513 [GRCh38]
Chr15:89843744 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3007-65G>A |
single nucleotide variant |
not provided [RCV001598912] |
Chr15:89303799 [GRCh38]
Chr15:89847030 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile) |
single nucleotide variant |
Fanconi anemia [RCV001048638]|Fanconi anemia complementation group I [RCV002505591] |
Chr15:89278698 [GRCh38]
Chr15:89821929 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q26.1(chr15:89669751-89899031)x3 |
copy number gain |
not provided [RCV001006719] |
Chr15:89669751..89899031 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.*662C>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001117759] |
Chr15:89317121 [GRCh38]
Chr15:89860352 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val) |
single nucleotide variant |
Fanconi anemia [RCV001856591]|Fanconi anemia complementation group I [RCV001121118]|not provided [RCV004777971] |
Chr15:89307527 [GRCh38]
Chr15:89850758 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.*100G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001119232]|Mitochondrial disease [RCV001759886]|POLG-Related Spectrum Disorders [RCV001119233] |
Chr15:89316651 [GRCh38]
Chr15:89859882 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001194980] |
Chr15:89247649 [GRCh38]
Chr15:89790880 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) |
deletion |
Fanconi anemia [RCV002559234]|Fanconi anemia complementation group I [RCV001194986] |
Chr15:89307643..89307644 [GRCh38]
Chr15:89850874..89850875 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs) |
duplication |
Fanconi anemia complementation group I [RCV001194988] |
Chr15:89315364..89315365 [GRCh38]
Chr15:89858595..89858596 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3058+1G>A |
single nucleotide variant |
Fanconi anemia [RCV002560183]|Fanconi anemia complementation group I [RCV001195001] |
Chr15:89303916 [GRCh38]
Chr15:89847147 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.503+81_503+82dup |
duplication |
not provided [RCV001680649] |
Chr15:89261958..89261959 [GRCh38]
Chr15:89805189..89805190 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3006+337A>C |
single nucleotide variant |
not provided [RCV001614134] |
Chr15:89301779 [GRCh38]
Chr15:89845010 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.289-319G>A |
single nucleotide variant |
not provided [RCV001574992] |
Chr15:89261266 [GRCh38]
Chr15:89804497 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3651+226G>A |
single nucleotide variant |
not provided [RCV001708401] |
Chr15:89307898 [GRCh38]
Chr15:89851129 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.975+43A>C |
single nucleotide variant |
not provided [RCV001648959] |
Chr15:89273512 [GRCh38]
Chr15:89816743 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3721-145T>G |
single nucleotide variant |
not provided [RCV001649879] |
Chr15:89314467 [GRCh38]
Chr15:89857698 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001194993] |
Chr15:89276862 [GRCh38]
Chr15:89820093 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2636+290del |
deletion |
not provided [RCV001686062] |
Chr15:89295367 [GRCh38]
Chr15:89838598 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.85-214A>G |
single nucleotide variant |
not provided [RCV001713879] |
Chr15:89258490 [GRCh38]
Chr15:89801721 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.876_879del (p.His292fs) |
deletion |
Fanconi anemia [RCV001035379]|Fanconi anemia complementation group I [RCV004570090] |
Chr15:89268518..89268521 [GRCh38]
Chr15:89811749..89811752 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3652-70_3652-69dup |
duplication |
not provided [RCV001670374] |
Chr15:89312816..89312817 [GRCh38]
Chr15:89856047..89856048 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1821+51del |
deletion |
not provided [RCV001672084] |
Chr15:89285265 [GRCh38]
Chr15:89828496 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs) |
deletion |
Fanconi anemia [RCV001049832] |
Chr15:89283217..89283233 [GRCh38]
Chr15:89826448..89826464 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3537+186A>G |
single nucleotide variant |
not provided [RCV001644286] |
Chr15:89306380 [GRCh38]
Chr15:89849611 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2457-101G>A |
single nucleotide variant |
not provided [RCV001670359] |
Chr15:89294814 [GRCh38]
Chr15:89838045 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3816+139C>T |
single nucleotide variant |
not provided [RCV001707473] |
Chr15:89314846 [GRCh38]
Chr15:89858077 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.883-50_883-46del |
deletion |
not provided [RCV001679139] |
Chr15:89273323..89273327 [GRCh38]
Chr15:89816554..89816558 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2292-296C>A |
single nucleotide variant |
not provided [RCV001671690] |
Chr15:89293537 [GRCh38]
Chr15:89836768 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.975+42del |
deletion |
not provided [RCV001695817] |
Chr15:89273511 [GRCh38]
Chr15:89816742 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.883-50_883-47del |
deletion |
not provided [RCV001583724] |
Chr15:89273324..89273327 [GRCh38]
Chr15:89816555..89816558 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.295del (p.His99fs) |
deletion |
Fanconi anemia [RCV001615388] |
Chr15:89261590 [GRCh38]
Chr15:89804821 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NC_000015.10:g.89317316C>A |
single nucleotide variant |
not provided [RCV001610857] |
Chr15:89317316 [GRCh38]
Chr15:89860547 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3816+127_3816+129del |
deletion |
not provided [RCV001650750] |
Chr15:89314834..89314836 [GRCh38]
Chr15:89858065..89858067 [GRCh37]
Chr15:15q26.1 |
benign |
| NC_000015.10:g.(?_89316731)_(89316847_?)del |
deletion |
Progressive sclerosing poliodystrophy [RCV001031829] |
Chr15:89859962..89860078 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3568del (p.Arg1190fs) |
deletion |
Progressive sclerosing poliodystrophy [RCV003467588]|not provided [RCV001009078] |
Chr15:89317451 [GRCh38]
Chr15:89860682 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1294-186G>A |
single nucleotide variant |
not provided [RCV001614912] |
Chr15:89278501 [GRCh38]
Chr15:89821732 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln) |
single nucleotide variant |
Fanconi anemia [RCV001218676]|Fanconi anemia complementation group I [RCV002484186] |
Chr15:89300375 [GRCh38]
Chr15:89843606 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile) |
single nucleotide variant |
Fanconi anemia [RCV001204923]|Fanconi anemia complementation group I [RCV002484110] |
Chr15:89293869 [GRCh38]
Chr15:89837100 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile) |
single nucleotide variant |
Fanconi anemia [RCV001035958]|Fanconi anemia complementation group I [RCV005012460]|Inborn genetic diseases [RCV002551344] |
Chr15:89293882 [GRCh38]
Chr15:89837113 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.933TCT[2] (p.Leu314del) |
microsatellite |
FANCI-related disorder [RCV004754684]|Fanconi anemia [RCV001060864] |
Chr15:89273427..89273429 [GRCh38]
Chr15:89816658..89816660 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.-10A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001120811] |
Chr15:89247638 [GRCh38]
Chr15:89790869 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2292-11G>C |
single nucleotide variant |
Fanconi anemia [RCV002558200]|Fanconi anemia complementation group I [RCV001121007] |
Chr15:89293822 [GRCh38]
Chr15:89837053 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1703A>C (p.His568Pro) |
single nucleotide variant |
Fanconi anemia [RCV001234953] |
Chr15:89285100 [GRCh38]
Chr15:89828331 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1491A>C (p.Gln497His) |
single nucleotide variant |
Fanconi anemia [RCV001061571] |
Chr15:89281279 [GRCh38]
Chr15:89824510 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) |
deletion |
Fanconi anemia [RCV001205465]|Fanconi anemia complementation group I [RCV002497697] |
Chr15:89295026..89295027 [GRCh38]
Chr15:89838257..89838258 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg) |
single nucleotide variant |
Fanconi anemia [RCV001216607] |
Chr15:89307500 [GRCh38]
Chr15:89850731 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe) |
single nucleotide variant |
Fanconi anemia [RCV001236998] |
Chr15:89264006 [GRCh38]
Chr15:89807237 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys) |
single nucleotide variant |
Fanconi anemia [RCV002558178]|Fanconi anemia complementation group I [RCV001119129] |
Chr15:89305626 [GRCh38]
Chr15:89848857 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001194999] |
Chr15:89295030 [GRCh38]
Chr15:89838261 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs) |
deletion |
Fanconi anemia complementation group I [RCV001194982] |
Chr15:89306093..89306111 [GRCh38]
Chr15:89849324..89849342 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro) |
single nucleotide variant |
Fanconi anemia [RCV001058102] |
Chr15:89281260 [GRCh38]
Chr15:89824491 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn) |
single nucleotide variant |
Fanconi anemia [RCV001202317] |
Chr15:89316456 [GRCh38]
Chr15:89859687 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.800T>C (p.Val267Ala) |
single nucleotide variant |
Fanconi anemia [RCV001040081]|Fanconi anemia complementation group I [RCV002481876] |
Chr15:89268443 [GRCh38]
Chr15:89811674 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys) |
single nucleotide variant |
Fanconi anemia [RCV001217968]|Fanconi anemia complementation group I [RCV002497741] |
Chr15:89315363 [GRCh38]
Chr15:89858594 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3172G>A (p.Gly1058Arg) |
single nucleotide variant |
Fanconi anemia [RCV001218035] |
Chr15:89305228 [GRCh38]
Chr15:89848459 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2572C>G (p.His858Asp) |
single nucleotide variant |
Fanconi anemia [RCV001206910] |
Chr15:89295030 [GRCh38]
Chr15:89838261 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser) |
single nucleotide variant |
Fanconi anemia [RCV001052009] |
Chr15:89273405 [GRCh38]
Chr15:89816636 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.571G>A (p.Val191Met) |
single nucleotide variant |
Fanconi anemia [RCV001218391]|Fanconi anemia complementation group I [RCV002497746] |
Chr15:89263928 [GRCh38]
Chr15:89807159 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser) |
single nucleotide variant |
Fanconi anemia [RCV001040941]|not provided [RCV004693481] |
Chr15:89292791 [GRCh38]
Chr15:89836022 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His) |
single nucleotide variant |
Fanconi anemia [RCV001208200]|Fanconi anemia complementation group I [RCV002491631]|not provided [RCV002274144] |
Chr15:89293038 [GRCh38]
Chr15:89836269 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.157+78G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001194981] |
Chr15:89258854 [GRCh38]
Chr15:89802085 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) |
single nucleotide variant |
Fanconi anemia [RCV001382026]|Fanconi anemia complementation group I [RCV001194987]|not provided [RCV003222250] |
Chr15:89315360 [GRCh38]
Chr15:89858591 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1583+142C>T |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001194994] |
Chr15:89281977 [GRCh38]
Chr15:89825208 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) |
single nucleotide variant |
Fanconi anemia [RCV003635946]|Fanconi anemia complementation group I [RCV003462669]|not provided [RCV001194995] |
Chr15:89283149 [GRCh38]
Chr15:89826380 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) |
single nucleotide variant |
Fanconi anemia [RCV002560182]|Fanconi anemia complementation group I [RCV001194997] |
Chr15:89290231 [GRCh38]
Chr15:89833462 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001194998] |
Chr15:89293020 [GRCh38]
Chr15:89836251 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3058+4A>G |
single nucleotide variant |
Fanconi anemia [RCV002561028]|Fanconi anemia complementation group I [RCV001195002] |
Chr15:89303919 [GRCh38]
Chr15:89847150 [GRCh37]
Chr15:15q26.1 |
pathogenic|uncertain significance |
| NM_001113378.2(FANCI):c.3350-88A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001195003] |
Chr15:89305919 [GRCh38]
Chr15:89849150 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp) |
deletion |
Fanconi anemia [RCV001228924] |
Chr15:89300316..89300348 [GRCh38]
Chr15:89843547..89843579 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=) |
single nucleotide variant |
Fanconi anemia [RCV001856592]|Fanconi anemia complementation group I [RCV001121121] |
Chr15:89307672 [GRCh38]
Chr15:89850903 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg) |
single nucleotide variant |
Fanconi anemia [RCV001051225]|Fanconi anemia complementation group I [RCV005005002] |
Chr15:89292752 [GRCh38]
Chr15:89835983 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1017G>A (p.Lys339=) |
single nucleotide variant |
Fanconi anemia [RCV002255622]|Fanconi anemia complementation group I [RCV001118939]|not provided [RCV004693731] |
Chr15:89274209 [GRCh38]
Chr15:89817440 [GRCh37]
Chr15:15q26.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg) |
single nucleotide variant |
Fanconi anemia [RCV001041631] |
Chr15:89263980 [GRCh38]
Chr15:89807211 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001117328] |
Chr15:89264553 [GRCh38]
Chr15:89807784 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2390C>T (p.Ala797Val) |
single nucleotide variant |
Fanconi anemia [RCV001052792]|Fanconi anemia complementation group I [RCV005005006] |
Chr15:89293931 [GRCh38]
Chr15:89837162 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1489C>A (p.Gln497Lys) |
single nucleotide variant |
Fanconi anemia [RCV001203284] |
Chr15:89281277 [GRCh38]
Chr15:89824508 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly) |
single nucleotide variant |
Fanconi anemia [RCV001048482]|Fanconi anemia complementation group I [RCV005004999] |
Chr15:89292972 [GRCh38]
Chr15:89836203 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.400C>G (p.Leu134Val) |
single nucleotide variant |
Fanconi anemia [RCV001860562]|Microcephaly [RCV001252858]|not specified [RCV001819716] |
Chr15:89261696 [GRCh38]
Chr15:89804927 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.546-99T>C |
single nucleotide variant |
not provided [RCV001581194] |
Chr15:89263804 [GRCh38]
Chr15:89807035 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.976-225T>A |
single nucleotide variant |
not provided [RCV001581238] |
Chr15:89273943 [GRCh38]
Chr15:89817174 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3007-216T>C |
single nucleotide variant |
not provided [RCV001663093] |
Chr15:89303648 [GRCh38]
Chr15:89846879 [GRCh37]
Chr15:15q26.1 |
benign |
| GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 |
copy number loss |
See cases [RCV001263026] |
Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.1631T>C (p.Leu544Pro) |
single nucleotide variant |
not provided [RCV002280085] |
Chr15:89283183 [GRCh38]
Chr15:89826414 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1698+6G>T |
single nucleotide variant |
Fanconi anemia [RCV001313185]|Fanconi anemia complementation group I [RCV002499603] |
Chr15:89283256 [GRCh38]
Chr15:89826487 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1374T>A (p.His458Gln) |
single nucleotide variant |
Fanconi anemia [RCV001312254]|Inborn genetic diseases [RCV004034249] |
Chr15:89278767 [GRCh38]
Chr15:89821998 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1992+80T>C |
single nucleotide variant |
not provided [RCV001581216] |
Chr15:89291794 [GRCh38]
Chr15:89835025 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3828G>A (p.Met1276Ile) |
single nucleotide variant |
Fanconi anemia [RCV001319118] |
Chr15:89315293 [GRCh38]
Chr15:89858524 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.563C>A (p.Ala188Glu) |
single nucleotide variant |
Fanconi anemia [RCV001342428] |
Chr15:89263920 [GRCh38]
Chr15:89807151 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2969C>T (p.Thr990Ile) |
single nucleotide variant |
Fanconi anemia [RCV001341563] |
Chr15:89301405 [GRCh38]
Chr15:89844636 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1510C>A (p.Gln504Lys) |
single nucleotide variant |
Fanconi anemia [RCV001301203] |
Chr15:89281298 [GRCh38]
Chr15:89824529 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001292754] |
Chr15:89261645 [GRCh38]
Chr15:89804876 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.706T>C (p.Phe236Leu) |
single nucleotide variant |
Fanconi anemia [RCV001321086] |
Chr15:89264558 [GRCh38]
Chr15:89807789 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg) |
single nucleotide variant |
Fanconi anemia [RCV001299983]|Fanconi anemia complementation group I [RCV002499557] |
Chr15:89305360 [GRCh38]
Chr15:89848591 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3875A>G (p.Asn1292Ser) |
single nucleotide variant |
Fanconi anemia [RCV001324802] |
Chr15:89315340 [GRCh38]
Chr15:89858571 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys) |
single nucleotide variant |
Fanconi anemia [RCV001351579]|Fanconi anemia complementation group I [RCV002486454] |
Chr15:89305172 [GRCh38]
Chr15:89848403 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2636+4A>G |
single nucleotide variant |
Fanconi anemia [RCV001337477] |
Chr15:89295098 [GRCh38]
Chr15:89838329 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2649G>C (p.Trp883Cys) |
single nucleotide variant |
Fanconi anemia [RCV001343748] |
Chr15:89299812 [GRCh38]
Chr15:89843043 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3354G>T (p.Glu1118Asp) |
single nucleotide variant |
Fanconi anemia [RCV001294386] |
Chr15:89306011 [GRCh38]
Chr15:89849242 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2170-3T>C |
single nucleotide variant |
Fanconi anemia [RCV001341318] |
Chr15:89292939 [GRCh38]
Chr15:89836170 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3696A>T (p.Lys1232Asn) |
single nucleotide variant |
Fanconi anemia [RCV001300850] |
Chr15:89312948 [GRCh38]
Chr15:89856179 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1708G>C (p.Asp570His) |
single nucleotide variant |
Fanconi anemia [RCV001361330] |
Chr15:89285105 [GRCh38]
Chr15:89828336 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3612T>C (p.His1204=) |
single nucleotide variant |
not provided [RCV004598942] |
Chr15:89307633 [GRCh38]
Chr15:89850864 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3426T>C (p.Leu1142=) |
single nucleotide variant |
Fanconi anemia [RCV001434130] |
Chr15:89306083 [GRCh38]
Chr15:89849314 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.822C>T (p.His274=) |
single nucleotide variant |
Fanconi anemia [RCV001433101]|Fanconi anemia complementation group I [RCV002476756] |
Chr15:89268465 [GRCh38]
Chr15:89811696 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2511G>C (p.Glu837Asp) |
single nucleotide variant |
Fanconi anemia [RCV001372543] |
Chr15:89294969 [GRCh38]
Chr15:89838200 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3006+10C>T |
single nucleotide variant |
Fanconi anemia [RCV001392133] |
Chr15:89301452 [GRCh38]
Chr15:89844683 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2121G>A (p.Glu707=) |
single nucleotide variant |
Fanconi anemia [RCV001433472] |
Chr15:89292816 [GRCh38]
Chr15:89836047 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.999G>A (p.Ser333=) |
single nucleotide variant |
Fanconi anemia [RCV001414361] |
Chr15:89274191 [GRCh38]
Chr15:89817422 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3271C>G (p.Gln1091Glu) |
single nucleotide variant |
Fanconi anemia [RCV001362432]|Fanconi anemia complementation group I [RCV005005209]|Inborn genetic diseases [RCV003284263] |
Chr15:89305620 [GRCh38]
Chr15:89848851 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1254A>T (p.Ala418=) |
single nucleotide variant |
Fanconi anemia [RCV001422706] |
Chr15:89276852 [GRCh38]
Chr15:89820083 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) |
single nucleotide variant |
Fanconi anemia [RCV001368476]|Fanconi anemia complementation group I [RCV001292667]|not provided [RCV002274181] |
Chr15:89316457 [GRCh38]
Chr15:89859688 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2440C>G (p.Leu814Val) |
single nucleotide variant |
Fanconi anemia [RCV001370769] |
Chr15:89293981 [GRCh38]
Chr15:89837212 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) |
duplication |
Fanconi anemia [RCV001383185]|Fanconi anemia complementation group I [RCV004570949] |
Chr15:89307637..89307638 [GRCh38]
Chr15:89850868..89850869 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1158T>G (p.Gly386=) |
single nucleotide variant |
Fanconi anemia [RCV001414626] |
Chr15:89276756 [GRCh38]
Chr15:89819987 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3949C>T (p.Gln1317Ter) |
single nucleotide variant |
not provided [RCV001311060] |
Chr15:89316421 [GRCh38]
Chr15:89859652 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1436C>A (p.Ser479Tyr) |
single nucleotide variant |
Fanconi anemia [RCV001304592] |
Chr15:89281224 [GRCh38]
Chr15:89824455 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3411A>G (p.Gln1137=) |
single nucleotide variant |
Fanconi anemia [RCV001360770]|Fanconi anemia complementation group I [RCV005005208] |
Chr15:89306068 [GRCh38]
Chr15:89849299 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2291+221A>G |
single nucleotide variant |
not provided [RCV001538478] |
Chr15:89293284 [GRCh38]
Chr15:89836515 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-308_2457-307del |
deletion |
not provided [RCV001536345] |
Chr15:89294602..89294603 [GRCh38]
Chr15:89837833..89837834 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3546G>A (p.Gln1182=) |
single nucleotide variant |
Fanconi anemia [RCV001397598] |
Chr15:89307484 [GRCh38]
Chr15:89850715 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NC_000015.9:g.(?_32964879)_(91358519_?)dup |
duplication |
Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] |
Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2674G>T (p.Val892Leu) |
single nucleotide variant |
Fanconi anemia [RCV001360902] |
Chr15:89299837 [GRCh38]
Chr15:89843068 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2428G>T (p.Val810Leu) |
single nucleotide variant |
Fanconi anemia [RCV001337625] |
Chr15:89293969 [GRCh38]
Chr15:89837200 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2990A>T (p.Glu997Val) |
single nucleotide variant |
Fanconi anemia [RCV001373218] |
Chr15:89301426 [GRCh38]
Chr15:89844657 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.919_920delinsGT (p.Pro307Val) |
indel |
Fanconi anemia [RCV001305365] |
Chr15:89273413..89273414 [GRCh38]
Chr15:89816644..89816645 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn) |
single nucleotide variant |
Fanconi anemia [RCV001341957]|Fanconi anemia complementation group I [RCV002476578] |
Chr15:89274267 [GRCh38]
Chr15:89817498 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2096A>G (p.Tyr699Cys) |
single nucleotide variant |
Fanconi anemia [RCV001320016] |
Chr15:89292791 [GRCh38]
Chr15:89836022 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89859962)_(89860078_?)del |
deletion |
Progressive sclerosing poliodystrophy [RCV001322904] |
Chr15:89859962..89860078 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1140G>A (p.Gln380=) |
single nucleotide variant |
Fanconi anemia [RCV001362838] |
Chr15:89276738 [GRCh38]
Chr15:89819969 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.40G>A (p.Ala14Thr) |
single nucleotide variant |
Fanconi anemia [RCV001343772] |
Chr15:89247687 [GRCh38]
Chr15:89790918 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1A>G (p.Met1Val) |
single nucleotide variant |
Fanconi anemia [RCV001322941]|Fanconi anemia complementation group I [RCV002499629] |
Chr15:89247648 [GRCh38]
Chr15:89790879 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2291+5G>A |
single nucleotide variant |
Fanconi anemia [RCV001371541] |
Chr15:89293068 [GRCh38]
Chr15:89836299 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3061G>A (p.Asp1021Asn) |
single nucleotide variant |
Fanconi anemia [RCV001322059] |
Chr15:89305117 [GRCh38]
Chr15:89848348 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89833434)_(89834955_?)del |
deletion |
Fanconi anemia [RCV001324196] |
Chr15:89833434..89834955 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly) |
single nucleotide variant |
Fanconi anemia [RCV001372342]|Fanconi anemia complementation group I [RCV003224560]|not provided [RCV002307734] |
Chr15:89285139 [GRCh38]
Chr15:89828370 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) |
single nucleotide variant |
Fanconi anemia [RCV001871740]|Fanconi anemia complementation group I [RCV001292737] |
Chr15:89260788 [GRCh38]
Chr15:89804019 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1477C>T (p.Leu493Phe) |
single nucleotide variant |
Fanconi anemia [RCV001341139] |
Chr15:89281265 [GRCh38]
Chr15:89824496 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3667A>C (p.Ile1223Leu) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001372481] |
Chr15:89316804 [GRCh38]
Chr15:89860035 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile) |
single nucleotide variant |
Fanconi anemia [RCV001298327] |
Chr15:89258708 [GRCh38]
Chr15:89801939 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2617A>G (p.Asn873Asp) |
single nucleotide variant |
Fanconi anemia [RCV001323309] |
Chr15:89295075 [GRCh38]
Chr15:89838306 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.197G>A (p.Arg66His) |
single nucleotide variant |
Fanconi anemia [RCV001325807]|Fanconi anemia complementation group I [RCV002476530] |
Chr15:89260752 [GRCh38]
Chr15:89803983 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.320A>G (p.Glu107Gly) |
single nucleotide variant |
Fanconi anemia [RCV001339929] |
Chr15:89261616 [GRCh38]
Chr15:89804847 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1906G>C (p.Glu636Gln) |
single nucleotide variant |
Fanconi anemia [RCV001317872] |
Chr15:89291628 [GRCh38]
Chr15:89834859 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2133T>C (p.Asn711=) |
single nucleotide variant |
Fanconi anemia [RCV001342887]|Fanconi anemia complementation group I [RCV002486390] |
Chr15:89292828 [GRCh38]
Chr15:89836059 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2051C>T (p.Pro684Leu) |
single nucleotide variant |
Fanconi anemia [RCV001322432]|Fanconi anemia complementation group I [RCV005005171] |
Chr15:89292746 [GRCh38]
Chr15:89835977 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2544G>C (p.Gln848His) |
single nucleotide variant |
Fanconi anemia [RCV001339369]|Fanconi anemia complementation group I [RCV002504530] |
Chr15:89295002 [GRCh38]
Chr15:89838233 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1821+5G>A |
single nucleotide variant |
Fanconi anemia [RCV001322556]|Fanconi anemia complementation group I [RCV005012771] |
Chr15:89285223 [GRCh38]
Chr15:89828454 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2708G>T (p.Ser903Ile) |
single nucleotide variant |
Fanconi anemia [RCV001341604] |
Chr15:89299871 [GRCh38]
Chr15:89843102 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3062A>G (p.Asp1021Gly) |
single nucleotide variant |
Fanconi anemia [RCV001343206] |
Chr15:89305118 [GRCh38]
Chr15:89848349 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1870A>G (p.Met624Val) |
single nucleotide variant |
Fanconi anemia [RCV001368096] |
Chr15:89290261 [GRCh38]
Chr15:89833492 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys) |
single nucleotide variant |
Fanconi anemia [RCV001319709]|Fanconi anemia complementation group I [RCV002486268] |
Chr15:89260761 [GRCh38]
Chr15:89803992 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.794G>A (p.Arg265His) |
single nucleotide variant |
Fanconi anemia [RCV001343366]|Fanconi anemia complementation group I [RCV005005845] |
Chr15:89268437 [GRCh38]
Chr15:89811668 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val) |
single nucleotide variant |
Fanconi anemia [RCV001367516]|not specified [RCV002265989] |
Chr15:89305342 [GRCh38]
Chr15:89848573 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3186+6A>G |
single nucleotide variant |
Fanconi anemia [RCV001298989] |
Chr15:89305248 [GRCh38]
Chr15:89848479 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1512+5G>C |
single nucleotide variant |
Fanconi anemia [RCV001295924] |
Chr15:89281305 [GRCh38]
Chr15:89824536 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.896G>A (p.Gly299Glu) |
single nucleotide variant |
Fanconi anemia [RCV001326320]|Fanconi anemia complementation group I [RCV005012776] |
Chr15:89273390 [GRCh38]
Chr15:89816621 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3809A>G (p.Lys1270Arg) |
single nucleotide variant |
Fanconi anemia [RCV001299504]|not provided [RCV004774379] |
Chr15:89314700 [GRCh38]
Chr15:89857931 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2673A>T (p.Ser891=) |
single nucleotide variant |
Fanconi anemia [RCV001414077] |
Chr15:89299836 [GRCh38]
Chr15:89843067 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.835A>G (p.Ile279Val) |
single nucleotide variant |
Fanconi anemia [RCV001296341] |
Chr15:89268478 [GRCh38]
Chr15:89811709 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu) |
single nucleotide variant |
Fanconi anemia [RCV001297561] |
Chr15:89260776 [GRCh38]
Chr15:89804007 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3179T>C (p.Ile1060Thr) |
single nucleotide variant |
Fanconi anemia [RCV001371819] |
Chr15:89305235 [GRCh38]
Chr15:89848466 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.816T>C (p.Ile272=) |
single nucleotide variant |
Fanconi anemia [RCV001493929] |
Chr15:89268459 [GRCh38]
Chr15:89811690 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2146A>G (p.Ser716Gly) |
single nucleotide variant |
Fanconi anemia [RCV001294730] |
Chr15:89292841 [GRCh38]
Chr15:89836072 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) |
single nucleotide variant |
Fanconi anemia [RCV001396120]|Fanconi anemia complementation group I [RCV002499837]|not specified [RCV001820095] |
Chr15:89293890 [GRCh38]
Chr15:89837121 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.446-9C>T |
single nucleotide variant |
Fanconi anemia [RCV001396151] |
Chr15:89261812 [GRCh38]
Chr15:89805043 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) |
single nucleotide variant |
Fanconi anemia [RCV001317746]|Fanconi anemia complementation group I [RCV001773635]|not provided [RCV002070146] |
Chr15:89264564 [GRCh38]
Chr15:89807795 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3525C>T (p.Ala1175=) |
single nucleotide variant |
Fanconi anemia [RCV001494724] |
Chr15:89306182 [GRCh38]
Chr15:89849413 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-8C>T |
single nucleotide variant |
Fanconi anemia [RCV001494919] |
Chr15:89294907 [GRCh38]
Chr15:89838138 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-7C>T |
single nucleotide variant |
Fanconi anemia [RCV001475075] |
Chr15:89316390 [GRCh38]
Chr15:89859621 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2163T>C (p.Phe721=) |
single nucleotide variant |
Fanconi anemia [RCV001473149] |
Chr15:89292858 [GRCh38]
Chr15:89836089 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1821+8C>T |
single nucleotide variant |
Fanconi anemia [RCV001468400] |
Chr15:89285226 [GRCh38]
Chr15:89828457 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3720+14A>G |
single nucleotide variant |
Fanconi anemia [RCV001510130]|Fanconi anemia complementation group I [RCV002495783] |
Chr15:89312986 [GRCh38]
Chr15:89856217 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.1248G>A (p.Gln416=) |
single nucleotide variant |
Fanconi anemia [RCV001461635] |
Chr15:89276846 [GRCh38]
Chr15:89820077 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter) |
duplication |
Fanconi anemia [RCV001385762] |
Chr15:89306125..89306126 [GRCh38]
Chr15:89849356..89849357 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3256-9_3256-8del |
deletion |
FANCI-related disorder [RCV003900505]|Fanconi anemia [RCV001439886] |
Chr15:89305594..89305595 [GRCh38]
Chr15:89848825..89848826 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1891-2A>G |
single nucleotide variant |
Fanconi anemia [RCV001885182]|Fanconi anemia complementation group I [RCV003464140] |
Chr15:89291611 [GRCh38]
Chr15:89834842 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2751T>C (p.Ser917=) |
single nucleotide variant |
Fanconi anemia [RCV001492993] |
Chr15:89299914 [GRCh38]
Chr15:89843145 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2370T>A (p.Gly790=) |
single nucleotide variant |
Fanconi anemia [RCV001490116] |
Chr15:89293911 [GRCh38]
Chr15:89837142 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2946C>T (p.Ala982=) |
single nucleotide variant |
Fanconi anemia [RCV001427347]|Fanconi anemia complementation group I [RCV002495585]|not provided [RCV004706136] |
Chr15:89301382 [GRCh38]
Chr15:89844613 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1821+133G>T |
single nucleotide variant |
not provided [RCV001643545] |
Chr15:89285351 [GRCh38]
Chr15:89828582 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) |
deletion |
Fanconi anemia [RCV001385987]|Fanconi anemia complementation group I [RCV003463009] |
Chr15:89299857..89299860 [GRCh38]
Chr15:89843088..89843091 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3255+8T>C |
single nucleotide variant |
Fanconi anemia [RCV001412167] |
Chr15:89305417 [GRCh38]
Chr15:89848648 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3721-6C>T |
single nucleotide variant |
Fanconi anemia [RCV001439134] |
Chr15:89314606 [GRCh38]
Chr15:89857837 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1467C>A (p.Ser489=) |
single nucleotide variant |
Fanconi anemia [RCV001418933] |
Chr15:89281255 [GRCh38]
Chr15:89824486 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.372A>G (p.Gly124=) |
single nucleotide variant |
Fanconi anemia [RCV001439349] |
Chr15:89261668 [GRCh38]
Chr15:89804899 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NC_000015.9:g.(?_89753516)_(89876985_?)del |
deletion |
Progressive sclerosing poliodystrophy [RCV001390223] |
Chr15:89753516..89876985 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2106A>G (p.Leu702=) |
single nucleotide variant |
Fanconi anemia [RCV001447320] |
Chr15:89292801 [GRCh38]
Chr15:89836032 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.975+7T>C |
single nucleotide variant |
Fanconi anemia [RCV001405907] |
Chr15:89273476 [GRCh38]
Chr15:89816707 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2832A>G (p.Arg944=) |
single nucleotide variant |
Fanconi anemia [RCV001445092] |
Chr15:89300328 [GRCh38]
Chr15:89843559 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1716C>T (p.His572=) |
single nucleotide variant |
Fanconi anemia [RCV001426924] |
Chr15:89285113 [GRCh38]
Chr15:89828344 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3252C>T (p.Val1084=) |
single nucleotide variant |
Fanconi anemia [RCV001445260] |
Chr15:89305406 [GRCh38]
Chr15:89848637 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3096C>T (p.Leu1032=) |
single nucleotide variant |
Fanconi anemia [RCV001411270] |
Chr15:89305152 [GRCh38]
Chr15:89848383 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1833T>C (p.Asp611=) |
single nucleotide variant |
Fanconi anemia [RCV001416580] |
Chr15:89290224 [GRCh38]
Chr15:89833455 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3561C>T (p.Ser1187=) |
single nucleotide variant |
Fanconi anemia [RCV001443145] |
Chr15:89307499 [GRCh38]
Chr15:89850730 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2890-322G>T |
single nucleotide variant |
not provided [RCV001538378] |
Chr15:89301004 [GRCh38]
Chr15:89844235 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1026A>G (p.Gln342=) |
single nucleotide variant |
Fanconi anemia [RCV001506604] |
Chr15:89274218 [GRCh38]
Chr15:89817449 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3423G>A (p.Leu1141=) |
single nucleotide variant |
Fanconi anemia [RCV001490991] |
Chr15:89306080 [GRCh38]
Chr15:89849311 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1294-89A>G |
single nucleotide variant |
not provided [RCV001695056] |
Chr15:89278598 [GRCh38]
Chr15:89821829 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3925-9C>T |
single nucleotide variant |
Fanconi anemia [RCV001462543] |
Chr15:89316388 [GRCh38]
Chr15:89859619 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.975+66dup |
duplication |
not provided [RCV001716818] |
Chr15:89273511..89273512 [GRCh38]
Chr15:89816742..89816743 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2457-273_2457-272insCCAA |
insertion |
not provided [RCV001538215] |
Chr15:89294640..89294641 [GRCh38]
Chr15:89837871..89837872 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3954C>T (p.Asn1318=) |
single nucleotide variant |
Fanconi anemia [RCV001476808] |
Chr15:89316426 [GRCh38]
Chr15:89859657 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.756-87G>C |
single nucleotide variant |
not provided [RCV001682027] |
Chr15:89268312 [GRCh38]
Chr15:89811543 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2889+20T>A |
single nucleotide variant |
Fanconi anemia [RCV001500442] |
Chr15:89300405 [GRCh38]
Chr15:89843636 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2454C>T (p.Phe818=) |
single nucleotide variant |
Fanconi anemia [RCV001459487] |
Chr15:89293995 [GRCh38]
Chr15:89837226 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-206A>G |
single nucleotide variant |
not provided [RCV001716536] |
Chr15:89258498 [GRCh38]
Chr15:89801729 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2456+263G>A |
single nucleotide variant |
not provided [RCV001687757] |
Chr15:89294260 [GRCh38]
Chr15:89837491 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3924+39C>T |
single nucleotide variant |
not provided [RCV001618006] |
Chr15:89315428 [GRCh38]
Chr15:89858659 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1699-274G>A |
single nucleotide variant |
not provided [RCV001591542] |
Chr15:89284822 [GRCh38]
Chr15:89828053 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3285T>C (p.Val1095=) |
single nucleotide variant |
Fanconi anemia [RCV001488278] |
Chr15:89305634 [GRCh38]
Chr15:89848865 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1382-11_1382-10del |
deletion |
Fanconi anemia [RCV001488324] |
Chr15:89281158..89281159 [GRCh38]
Chr15:89824389..89824390 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.883-50G>A |
single nucleotide variant |
not provided [RCV001674928] |
Chr15:89273327 [GRCh38]
Chr15:89816558 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.158-42G>T |
single nucleotide variant |
not provided [RCV001678915] |
Chr15:89260671 [GRCh38]
Chr15:89803902 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1583+87G>A |
single nucleotide variant |
not provided [RCV001617091] |
Chr15:89281922 [GRCh38]
Chr15:89825153 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2889+189G>C |
single nucleotide variant |
not provided [RCV001714989] |
Chr15:89300574 [GRCh38]
Chr15:89843805 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2382T>G (p.Thr794=) |
single nucleotide variant |
Fanconi anemia [RCV001435861] |
Chr15:89293923 [GRCh38]
Chr15:89837154 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3059-4C>G |
single nucleotide variant |
Fanconi anemia [RCV001482728] |
Chr15:89305111 [GRCh38]
Chr15:89848342 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1986A>G (p.Glu662=) |
single nucleotide variant |
Fanconi anemia [RCV001478511] |
Chr15:89291708 [GRCh38]
Chr15:89834939 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-7C>G |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001467431] |
Chr15:89316834 [GRCh38]
Chr15:89860065 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.417G>A (p.Thr139=) |
single nucleotide variant |
Fanconi anemia [RCV001476387] |
Chr15:89261713 [GRCh38]
Chr15:89804944 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3690C>T (p.Ser1230=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001417556] |
Chr15:89316781 [GRCh38]
Chr15:89860012 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3058+10C>G |
single nucleotide variant |
Fanconi anemia [RCV001485193] |
Chr15:89303925 [GRCh38]
Chr15:89847156 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3291A>G (p.Glu1097=) |
single nucleotide variant |
Fanconi anemia [RCV001400063] |
Chr15:89305640 [GRCh38]
Chr15:89848871 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1426del (p.Ser476fs) |
deletion |
Fanconi anemia [RCV001380146] |
Chr15:89281212 [GRCh38]
Chr15:89824443 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.882+2T>A |
single nucleotide variant |
Fanconi anemia [RCV001377100] |
Chr15:89268527 [GRCh38]
Chr15:89811758 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1212T>C (p.Ile404=) |
single nucleotide variant |
Fanconi anemia [RCV001402394] |
Chr15:89276810 [GRCh38]
Chr15:89820041 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NC_000015.9:g.(?_89843021)_(89860052_?)del |
deletion |
Fanconi anemia [RCV001378914] |
Chr15:89843021..89860052 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1698+16G>A |
single nucleotide variant |
Fanconi anemia [RCV001511855] |
Chr15:89283266 [GRCh38]
Chr15:89826497 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.85-258G>C |
single nucleotide variant |
not provided [RCV001536407] |
Chr15:89258446 [GRCh38]
Chr15:89801677 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1698+11_1698+14del |
deletion |
Fanconi anemia [RCV001489164]|not specified [RCV001820189] |
Chr15:89283258..89283261 [GRCh38]
Chr15:89826489..89826492 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.882+10A>G |
single nucleotide variant |
Fanconi anemia [RCV001502709]|not specified [RCV001821797] |
Chr15:89268535 [GRCh38]
Chr15:89811766 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3801T>G (p.Leu1267=) |
single nucleotide variant |
Fanconi anemia [RCV001424818] |
Chr15:89314692 [GRCh38]
Chr15:89857923 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NC_000015.9:g.(?_89790873)_(89876991_?)del |
deletion |
Fanconi anemia [RCV001390219] |
Chr15:89790873..89876991 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.18A>G (p.Leu6=) |
single nucleotide variant |
Fanconi anemia [RCV001458029] |
Chr15:89247665 [GRCh38]
Chr15:89790896 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.231A>G (p.Glu77=) |
single nucleotide variant |
Fanconi anemia [RCV003108464] |
Chr15:89260786 [GRCh38]
Chr15:89804017 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3520A>G (p.Thr1174Ala) |
single nucleotide variant |
Fanconi anemia [RCV003104891] |
Chr15:89306177 [GRCh38]
Chr15:89849408 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1438A>G (p.Lys480Glu) |
single nucleotide variant |
Fanconi anemia [RCV003109178] |
Chr15:89281226 [GRCh38]
Chr15:89824457 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3036G>A (p.Lys1012=) |
single nucleotide variant |
Fanconi anemia [RCV003106971] |
Chr15:89303893 [GRCh38]
Chr15:89847124 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2342T>C (p.Leu781Pro) |
single nucleotide variant |
Fanconi anemia [RCV003108807]|Fanconi anemia complementation group I [RCV004786870] |
Chr15:89293883 [GRCh38]
Chr15:89837114 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3721-1G>C |
single nucleotide variant |
Fanconi anemia [RCV003635964]|not provided [RCV001726964] |
Chr15:89314611 [GRCh38]
Chr15:89857842 [GRCh37]
Chr15:15q26.1 |
likely pathogenic|uncertain significance |
| NM_001113378.2(FANCI):c.3526C>G (p.Leu1176Val) |
single nucleotide variant |
not provided [RCV001776843] |
Chr15:89306183 [GRCh38]
Chr15:89849414 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) |
single nucleotide variant |
Fanconi anemia [RCV002255937]|Fanconi anemia complementation group I [RCV002505899] |
Chr15:89276861 [GRCh38]
Chr15:89820092 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg) |
single nucleotide variant |
Fanconi anemia [RCV002255938]|Fanconi anemia complementation group I [RCV002488644] |
Chr15:89305621 [GRCh38]
Chr15:89848852 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala) |
single nucleotide variant |
Fanconi anemia [RCV002257254]|Fanconi anemia complementation group I [RCV002481066] |
Chr15:89276746 [GRCh38]
Chr15:89819977 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1444A>G (p.Thr482Ala) |
single nucleotide variant |
Fanconi anemia [RCV002258575] |
Chr15:89281232 [GRCh38]
Chr15:89824463 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.679_682del (p.Lys227fs) |
deletion |
Fanconi anemia [RCV002258577] |
Chr15:89264528..89264531 [GRCh38]
Chr15:89807759..89807762 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2430G>A (p.Val810=) |
single nucleotide variant |
Fanconi anemia [RCV002259230] |
Chr15:89293971 [GRCh38]
Chr15:89837202 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) |
single nucleotide variant |
Fanconi anemia [RCV001885118]|Fanconi anemia complementation group I [RCV001771699]|not provided [RCV003237705] |
Chr15:89276871 [GRCh38]
Chr15:89820102 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3537+3_3537+6del |
deletion |
Fanconi anemia [RCV001868779]|not provided [RCV003238625] |
Chr15:89306195..89306198 [GRCh38]
Chr15:89849426..89849429 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2669C>T (p.Thr890Ile) |
single nucleotide variant |
not provided [RCV003238626] |
Chr15:89299832 [GRCh38]
Chr15:89843063 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2462G>A (p.Ser821Asn) |
single nucleotide variant |
not provided [RCV003238627] |
Chr15:89294920 [GRCh38]
Chr15:89838151 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV002482312]|not provided [RCV001786778] |
Chr15:89260764 [GRCh38]
Chr15:89803995 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1699-11C>T |
single nucleotide variant |
Fanconi anemia [RCV002074054]|not provided [RCV003237704] |
Chr15:89285085 [GRCh38]
Chr15:89828316 [GRCh37]
Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.1822-8C>A |
single nucleotide variant |
not provided [RCV001758954] |
Chr15:89290205 [GRCh38]
Chr15:89833436 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.5A>T (p.Asp2Val) |
single nucleotide variant |
not provided [RCV003238624] |
Chr15:89247652 [GRCh38]
Chr15:89790883 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1635G>T (p.Lys545Asn) |
single nucleotide variant |
not provided [RCV003238628] |
Chr15:89283187 [GRCh38]
Chr15:89826418 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly) |
single nucleotide variant |
Fanconi anemia [RCV001868780]|not provided [RCV003238629] |
Chr15:89281230 [GRCh38]
Chr15:89824461 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) |
duplication |
Fanconi anemia [RCV003523109]|Fanconi anemia complementation group I [RCV001781089] |
Chr15:89312927..89312928 [GRCh38]
Chr15:89856158..89856159 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.2879_2884dup (p.Gln961_Phe962insTrpGln) |
duplication |
Fanconi anemia [RCV001869492]|Fanconi anemia complementation group I [RCV005005288]|not specified [RCV001806727] |
Chr15:89300374..89300375 [GRCh38]
Chr15:89843605..89843606 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001788958] |
Chr15:89274276 [GRCh38]
Chr15:89817507 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1 |
copy number loss |
not provided [RCV001795547] |
Chr15:88465861..94411846 [GRCh37]
Chr15:15q25.3-26.2 |
pathogenic |
| NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001788941] |
Chr15:89247672 [GRCh38]
Chr15:89790903 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1537A>G (p.Met513Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003339753]|not specified [RCV001817474] |
Chr15:89281789 [GRCh38]
Chr15:89825020 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3186+7_3186+8insG |
insertion |
Fanconi anemia [RCV002542004]|not specified [RCV001817552] |
Chr15:89305249..89305250 [GRCh38]
Chr15:89848480..89848481 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2890-44C>G |
single nucleotide variant |
not provided [RCV001776759] |
Chr15:89301282 [GRCh38]
Chr15:89844513 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro) |
single nucleotide variant |
Fanconi anemia [RCV001868699]|Fanconi anemia complementation group I [RCV002489813]|not provided [RCV001758906]|not specified [RCV001821998] |
Chr15:89292736 [GRCh38]
Chr15:89835967 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3078G>A (p.Lys1026=) |
single nucleotide variant |
Fanconi anemia [RCV002542561]|not specified [RCV001819345] |
Chr15:89305134 [GRCh38]
Chr15:89848365 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1481A>G (p.Gln494Arg) |
single nucleotide variant |
Fanconi anemia [RCV001869717]|Inborn genetic diseases [RCV004040982]|not specified [RCV001820355] |
Chr15:89281269 [GRCh38]
Chr15:89824500 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3622C>T (p.Leu1208=) |
single nucleotide variant |
Fanconi anemia [RCV001869718]|not specified [RCV001820356] |
Chr15:89307643 [GRCh38]
Chr15:89850874 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3948A>G (p.Gly1316=) |
single nucleotide variant |
Fanconi anemia [RCV003635978]|not specified [RCV001820542] |
Chr15:89316420 [GRCh38]
Chr15:89859651 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2536G>A (p.Ala846Thr) |
single nucleotide variant |
not specified [RCV001817186] |
Chr15:89294994 [GRCh38]
Chr15:89838225 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1404G>A (p.Met468Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005005291]|not specified [RCV001822415] |
Chr15:89281192 [GRCh38]
Chr15:89824423 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2918A>G (p.Gln973Arg) |
single nucleotide variant |
Fanconi anemia [RCV001869757]|not specified [RCV001822472] |
Chr15:89301354 [GRCh38]
Chr15:89844585 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.91A>G (p.Asn31Asp) |
single nucleotide variant |
not specified [RCV001822541] |
Chr15:89258710 [GRCh38]
Chr15:89801941 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3059-4dup |
duplication |
Fanconi anemia [RCV002074364]|not specified [RCV001822673] |
Chr15:89305109..89305110 [GRCh38]
Chr15:89848340..89848341 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1000G>T (p.Val334Phe) |
single nucleotide variant |
not specified [RCV001822690] |
Chr15:89274192 [GRCh38]
Chr15:89817423 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3006+11C>T |
single nucleotide variant |
Fanconi anemia [RCV002542591]|not specified [RCV001819682] |
Chr15:89301453 [GRCh38]
Chr15:89844684 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3127G>A (p.Val1043Ile) |
single nucleotide variant |
not specified [RCV001820391] |
Chr15:89305183 [GRCh38]
Chr15:89848414 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) |
single nucleotide variant |
Fanconi anemia [RCV002074343]|Fanconi anemia complementation group I [RCV002506855]|not specified [RCV001820645] |
Chr15:89285194 [GRCh38]
Chr15:89828425 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1698+4A>G |
single nucleotide variant |
Fanconi anemia [RCV001869742]|not specified [RCV001822329] |
Chr15:89283254 [GRCh38]
Chr15:89826485 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3591+4A>T |
single nucleotide variant |
Fanconi anemia [RCV001869743]|not specified [RCV001822330] |
Chr15:89307533 [GRCh38]
Chr15:89850764 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2457-8C>G |
single nucleotide variant |
Fanconi anemia [RCV002074359]|not specified [RCV001822514] |
Chr15:89294907 [GRCh38]
Chr15:89838138 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1522A>C (p.Lys508Gln) |
single nucleotide variant |
not specified [RCV001822712] |
Chr15:89281774 [GRCh38]
Chr15:89825005 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3147del (p.Leu1049fs) |
deletion |
Fanconi anemia [RCV003779030]|Fanconi anemia complementation group I [RCV003461516] |
Chr15:89305203 [GRCh38]
Chr15:89848434 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3799del (p.Leu1267fs) |
deletion |
Fanconi anemia complementation group I [RCV003461530] |
Chr15:89314689 [GRCh38]
Chr15:89857920 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1699-2A>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461531] |
Chr15:89285094 [GRCh38]
Chr15:89828325 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_002693.3(POLG):c.3680_3719del (p.Thr1227fs) |
deletion |
Progressive sclerosing poliodystrophy [RCV002001881] |
Chr15:89316752..89316791 [GRCh38]
Chr15:89859983..89860022 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2231T>C (p.Phe744Ser) |
single nucleotide variant |
Fanconi anemia [RCV001987606] |
Chr15:89293003 [GRCh38]
Chr15:89836234 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3816+6C>T |
single nucleotide variant |
Fanconi anemia [RCV002009200] |
Chr15:89314713 [GRCh38]
Chr15:89857944 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2114T>C (p.Ile705Thr) |
single nucleotide variant |
Fanconi anemia [RCV002008740]|Fanconi anemia complementation group I [RCV005002756]|Inborn genetic diseases [RCV004976085] |
Chr15:89292809 [GRCh38]
Chr15:89836040 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2998T>A (p.Ser1000Thr) |
single nucleotide variant |
Fanconi anemia [RCV002025928] |
Chr15:89301434 [GRCh38]
Chr15:89844665 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val) |
single nucleotide variant |
Fanconi anemia [RCV001988744]|Fanconi anemia complementation group I [RCV002486564] |
Chr15:89314639 [GRCh38]
Chr15:89857870 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3864_3869del (p.Ile1289_Lys1290del) |
deletion |
Fanconi anemia [RCV001891585] |
Chr15:89315325..89315330 [GRCh38]
Chr15:89858556..89858561 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.970G>T (p.Asp324Tyr) |
single nucleotide variant |
Fanconi anemia [RCV001964209] |
Chr15:89273464 [GRCh38]
Chr15:89816695 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2266T>G (p.Tyr756Asp) |
single nucleotide variant |
Fanconi anemia [RCV001863999] |
Chr15:89293038 [GRCh38]
Chr15:89836269 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.994A>C (p.Thr332Pro) |
single nucleotide variant |
Fanconi anemia [RCV001874916] |
Chr15:89274186 [GRCh38]
Chr15:89817417 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2458G>T (p.Asp820Tyr) |
single nucleotide variant |
Fanconi anemia [RCV001914908] |
Chr15:89294916 [GRCh38]
Chr15:89838147 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.925A>G (p.Ser309Gly) |
single nucleotide variant |
Fanconi anemia [RCV002043891]|Fanconi anemia complementation group I [RCV005002789] |
Chr15:89273419 [GRCh38]
Chr15:89816650 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2270A>G (p.Asn757Ser) |
single nucleotide variant |
Fanconi anemia [RCV001908141] |
Chr15:89293042 [GRCh38]
Chr15:89836273 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3817-12A>G |
single nucleotide variant |
Fanconi anemia [RCV001912790]|Fanconi anemia complementation group I [RCV005006187] |
Chr15:89315270 [GRCh38]
Chr15:89858501 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q26.1(chr15:89828268-89883917)x1 |
copy number loss |
not provided [RCV001827665] |
Chr15:89828268..89883917 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1 |
copy number loss |
not provided [RCV001827973] |
Chr15:89520451..93926491 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1885T>C (p.Ser629Pro) |
single nucleotide variant |
Fanconi anemia [RCV001928511] |
Chr15:89290276 [GRCh38]
Chr15:89833507 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1333C>T (p.Leu445Phe) |
single nucleotide variant |
Fanconi anemia [RCV001949925] |
Chr15:89278726 [GRCh38]
Chr15:89821957 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val) |
single nucleotide variant |
Fanconi anemia [RCV001950447]|Fanconi anemia complementation group I [RCV002497817] |
Chr15:89291673 [GRCh38]
Chr15:89834904 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe) |
single nucleotide variant |
Fanconi anemia [RCV002041615]|Fanconi anemia complementation group I [RCV002478091] |
Chr15:89281771 [GRCh38]
Chr15:89825002 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3924G>C (p.Glu1308Asp) |
single nucleotide variant |
Fanconi anemia [RCV001950471] |
Chr15:89315389 [GRCh38]
Chr15:89858620 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu) |
single nucleotide variant |
Fanconi anemia [RCV001984695] |
Chr15:89274190 [GRCh38]
Chr15:89817421 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1406A>G (p.Tyr469Cys) |
single nucleotide variant |
Fanconi anemia [RCV001863681] |
Chr15:89281194 [GRCh38]
Chr15:89824425 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2018A>G (p.His673Arg) |
single nucleotide variant |
Fanconi anemia [RCV001968576] |
Chr15:89292713 [GRCh38]
Chr15:89835944 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.517T>C (p.Tyr173His) |
single nucleotide variant |
Fanconi anemia [RCV001912360]|Fanconi anemia complementation group I [RCV002506977] |
Chr15:89263432 [GRCh38]
Chr15:89806663 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile) |
single nucleotide variant |
Fanconi anemia [RCV001967705]|Fanconi anemia complementation group I [RCV002484709] |
Chr15:89307667 [GRCh38]
Chr15:89850898 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1349C>A (p.Thr450Asn) |
single nucleotide variant |
Fanconi anemia [RCV001871056] |
Chr15:89278742 [GRCh38]
Chr15:89821973 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg) |
single nucleotide variant |
Fanconi anemia [RCV001983335]|Fanconi anemia complementation group I [RCV005002728] |
Chr15:89316443 [GRCh38]
Chr15:89859674 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.716C>T (p.Ala239Val) |
single nucleotide variant |
Fanconi anemia [RCV001965335]|Fanconi anemia complementation group I [RCV002479524]|Inborn genetic diseases [RCV003167427]|not provided [RCV004694019] |
Chr15:89264568 [GRCh38]
Chr15:89807799 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2623T>C (p.Cys875Arg) |
single nucleotide variant |
Fanconi anemia [RCV001945299] |
Chr15:89295081 [GRCh38]
Chr15:89838312 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter) |
single nucleotide variant |
FANCI-related disorder [RCV003401850]|Fanconi anemia [RCV001912597]|Fanconi anemia complementation group I [RCV005006185] |
Chr15:89263426 [GRCh38]
Chr15:89806657 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu) |
single nucleotide variant |
Fanconi anemia [RCV002020651]|Fanconi anemia complementation group I [RCV002479781] |
Chr15:89261714 [GRCh38]
Chr15:89804945 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1514C>A (p.Pro505His) |
single nucleotide variant |
Fanconi anemia [RCV002041957] |
Chr15:89281766 [GRCh38]
Chr15:89824997 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3113C>T (p.Ser1038Leu) |
single nucleotide variant |
Fanconi anemia [RCV002022135]|Fanconi anemia complementation group I [RCV005008348] |
Chr15:89305169 [GRCh38]
Chr15:89848400 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.918T>G (p.Ser306Arg) |
single nucleotide variant |
Fanconi anemia [RCV002021820] |
Chr15:89273412 [GRCh38]
Chr15:89816643 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe) |
single nucleotide variant |
Fanconi anemia [RCV001985409]|Fanconi anemia complementation group I [RCV002479551] |
Chr15:89264022 [GRCh38]
Chr15:89807253 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3701G>C (p.Arg1234Pro) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001885362]|not provided [RCV001823333] |
Chr15:89316770 [GRCh38]
Chr15:89860001 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2777A>C (p.Lys926Thr) |
single nucleotide variant |
Fanconi anemia [RCV001889715] |
Chr15:89299940 [GRCh38]
Chr15:89843171 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.446-19G>A |
single nucleotide variant |
Fanconi anemia [RCV002004770] |
Chr15:89261802 [GRCh38]
Chr15:89805033 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3344T>C (p.Leu1115Ser) |
single nucleotide variant |
Fanconi anemia [RCV001967183] |
Chr15:89305693 [GRCh38]
Chr15:89848924 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3737A>C (p.Glu1246Ala) |
single nucleotide variant |
Fanconi anemia [RCV001927146] |
Chr15:89314628 [GRCh38]
Chr15:89857859 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.875A>G (p.His292Arg) |
single nucleotide variant |
Fanconi anemia [RCV001947766]|Fanconi anemia complementation group I [RCV002484502] |
Chr15:89268518 [GRCh38]
Chr15:89811749 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3500G>T (p.Cys1167Phe) |
single nucleotide variant |
Fanconi anemia [RCV001895278] |
Chr15:89306157 [GRCh38]
Chr15:89849388 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3835A>G (p.Met1279Val) |
single nucleotide variant |
Fanconi anemia [RCV001913253]|Inborn genetic diseases [RCV004616857] |
Chr15:89315300 [GRCh38]
Chr15:89858531 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.411G>A (p.Leu137=) |
single nucleotide variant |
Fanconi anemia [RCV001968886] |
Chr15:89261707 [GRCh38]
Chr15:89804938 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) |
single nucleotide variant |
Fanconi anemia [RCV001914007]|Fanconi anemia complementation group I [RCV003471060] |
Chr15:89273380 [GRCh38]
Chr15:89816611 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) |
duplication |
Fanconi anemia [RCV001891843]|Fanconi anemia complementation group I [RCV002490097] |
Chr15:89300353..89300354 [GRCh38]
Chr15:89843584..89843585 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_002693.3(POLG):c.3700C>T (p.Arg1234Ter) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002004562] |
Chr15:89316771 [GRCh38]
Chr15:89860002 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.443A>G (p.Lys148Arg) |
single nucleotide variant |
Fanconi anemia [RCV001911693] |
Chr15:89261739 [GRCh38]
Chr15:89804970 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu) |
single nucleotide variant |
Fanconi anemia [RCV001965454]|Fanconi anemia complementation group I [RCV002479528] |
Chr15:89312946 [GRCh38]
Chr15:89856177 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1382-5T>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV001829266] |
Chr15:89281165 [GRCh38]
Chr15:89824396 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3157A>G (p.Ile1053Val) |
single nucleotide variant |
Fanconi anemia [RCV001928735] |
Chr15:89305213 [GRCh38]
Chr15:89848444 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1925T>C (p.Leu642Pro) |
single nucleotide variant |
Fanconi anemia [RCV002005646] |
Chr15:89291647 [GRCh38]
Chr15:89834878 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2169+8C>G |
single nucleotide variant |
Fanconi anemia [RCV001926374]|Fanconi anemia complementation group I [RCV005006242] |
Chr15:89292872 [GRCh38]
Chr15:89836103 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3671A>C (p.Asn1224Thr) |
single nucleotide variant |
Fanconi anemia [RCV001909341] |
Chr15:89312923 [GRCh38]
Chr15:89856154 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1514C>T (p.Pro505Leu) |
single nucleotide variant |
Fanconi anemia [RCV002006323] |
Chr15:89281766 [GRCh38]
Chr15:89824997 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1871T>C (p.Met624Thr) |
single nucleotide variant |
Fanconi anemia [RCV001968919] |
Chr15:89290262 [GRCh38]
Chr15:89833493 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2421G>A (p.Met807Ile) |
single nucleotide variant |
Fanconi anemia [RCV001986306] |
Chr15:89293962 [GRCh38]
Chr15:89837193 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3725G>A (p.Arg1242Lys) |
single nucleotide variant |
Fanconi anemia [RCV001872715] |
Chr15:89314616 [GRCh38]
Chr15:89857847 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser) |
single nucleotide variant |
Fanconi anemia [RCV002005472]|Fanconi anemia complementation group I [RCV002484881] |
Chr15:89274247 [GRCh38]
Chr15:89817478 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2458G>A (p.Asp820Asn) |
single nucleotide variant |
Fanconi anemia [RCV002005649] |
Chr15:89294916 [GRCh38]
Chr15:89838147 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1221C>G (p.Ser407Arg) |
single nucleotide variant |
Fanconi anemia [RCV001889311] |
Chr15:89276819 [GRCh38]
Chr15:89820050 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3649G>C (p.Ala1217Pro) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001964635]|not specified [RCV003317552] |
Chr15:89316822 [GRCh38]
Chr15:89860053 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3139C>T (p.Arg1047Cys) |
single nucleotide variant |
Fanconi anemia [RCV001913441]|not provided [RCV003235616] |
Chr15:89305195 [GRCh38]
Chr15:89848426 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3956_3957del (p.Lys1319fs) |
deletion |
Fanconi anemia [RCV001968838] |
Chr15:89316427..89316428 [GRCh38]
Chr15:89859658..89859659 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1294A>G (p.Ile432Val) |
single nucleotide variant |
Fanconi anemia [RCV001985012] |
Chr15:89278687 [GRCh38]
Chr15:89821918 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3370A>G (p.Thr1124Ala) |
single nucleotide variant |
Fanconi anemia [RCV001908902] |
Chr15:89306027 [GRCh38]
Chr15:89849258 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1787G>A (p.Ser596Asn) |
single nucleotide variant |
Fanconi anemia [RCV001945324] |
Chr15:89285184 [GRCh38]
Chr15:89828415 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3568A>G (p.Ile1190Val) |
single nucleotide variant |
Fanconi anemia [RCV002041754] |
Chr15:89307506 [GRCh38]
Chr15:89850737 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2212A>G (p.Lys738Glu) |
single nucleotide variant |
Fanconi anemia [RCV001910194] |
Chr15:89292984 [GRCh38]
Chr15:89836215 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2571G>A (p.Gly857=) |
single nucleotide variant |
Fanconi anemia [RCV002104391] |
Chr15:89295029 [GRCh38]
Chr15:89838260 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3056G>C (p.Arg1019Pro) |
single nucleotide variant |
Fanconi anemia [RCV001945616] |
Chr15:89303913 [GRCh38]
Chr15:89847144 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.12G>C (p.Lys4Asn) |
single nucleotide variant |
Fanconi anemia [RCV001999662] |
Chr15:89247659 [GRCh38]
Chr15:89790890 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3709G>A (p.Ala1237Thr) |
single nucleotide variant |
Fanconi anemia [RCV001887165] |
Chr15:89312961 [GRCh38]
Chr15:89856192 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.765TGT[1] (p.Val257del) |
microsatellite |
Fanconi anemia [RCV001955597] |
Chr15:89268408..89268410 [GRCh38]
Chr15:89811639..89811641 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr) |
single nucleotide variant |
Fanconi anemia [RCV001995330]|Fanconi anemia complementation group I [RCV002497918] |
Chr15:89314687 [GRCh38]
Chr15:89857918 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1972A>C (p.Ile658Leu) |
single nucleotide variant |
Fanconi anemia [RCV001998696] |
Chr15:89291694 [GRCh38]
Chr15:89834925 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met) |
single nucleotide variant |
Fanconi anemia [RCV001941270]|Fanconi anemia complementation group I [RCV002491989]|Inborn genetic diseases [RCV003264294] |
Chr15:89283209 [GRCh38]
Chr15:89826440 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1512G>A (p.Gln504=) |
single nucleotide variant |
Fanconi anemia [RCV001887295]|Fanconi anemia complementation group I [RCV005006178] |
Chr15:89281300 [GRCh38]
Chr15:89824531 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1222C>A (p.Pro408Thr) |
single nucleotide variant |
Fanconi anemia [RCV001944544] |
Chr15:89276820 [GRCh38]
Chr15:89820051 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1837C>T (p.Leu613Phe) |
single nucleotide variant |
Fanconi anemia [RCV002020212] |
Chr15:89290228 [GRCh38]
Chr15:89833459 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile) |
single nucleotide variant |
Fanconi anemia [RCV001961738]|Fanconi anemia complementation group I [RCV002484858] |
Chr15:89315357 [GRCh38]
Chr15:89858588 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter) |
single nucleotide variant |
Fanconi anemia [RCV001944243] |
Chr15:89299924 [GRCh38]
Chr15:89843155 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3734G>T (p.Arg1245Leu) |
single nucleotide variant |
Fanconi anemia [RCV001924217] |
Chr15:89314625 [GRCh38]
Chr15:89857856 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3720G>C (p.Ter1240Tyr) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001959521] |
Chr15:89316751 [GRCh38]
Chr15:89859982 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2504G>A (p.Ser835Asn) |
single nucleotide variant |
Fanconi anemia [RCV002013406]|Fanconi anemia complementation group I [RCV005002771] |
Chr15:89294962 [GRCh38]
Chr15:89838193 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.331G>C (p.Glu111Gln) |
single nucleotide variant |
Fanconi anemia [RCV001978844] |
Chr15:89261627 [GRCh38]
Chr15:89804858 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2197A>G (p.Thr733Ala) |
single nucleotide variant |
Fanconi anemia [RCV001886039] |
Chr15:89292969 [GRCh38]
Chr15:89836200 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3848C>T (p.Thr1283Ile) |
single nucleotide variant |
Fanconi anemia [RCV001888234] |
Chr15:89315313 [GRCh38]
Chr15:89858544 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.16T>G (p.Leu6Val) |
single nucleotide variant |
Fanconi anemia [RCV001990354] |
Chr15:89247663 [GRCh38]
Chr15:89790894 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1517T>G (p.Leu506Arg) |
single nucleotide variant |
Fanconi anemia [RCV001905861] |
Chr15:89281769 [GRCh38]
Chr15:89825000 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2419A>G (p.Met807Val) |
single nucleotide variant |
Fanconi anemia [RCV001888765]|Fanconi anemia complementation group I [RCV005005334] |
Chr15:89293960 [GRCh38]
Chr15:89837191 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser) |
single nucleotide variant |
Fanconi anemia [RCV001962186]|Fanconi anemia complementation group I [RCV002482541] |
Chr15:89316403 [GRCh38]
Chr15:89859634 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3327A>T (p.Gln1109His) |
single nucleotide variant |
Fanconi anemia [RCV001962140]|Fanconi anemia complementation group I [RCV005006119] |
Chr15:89305676 [GRCh38]
Chr15:89848907 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.754G>A (p.Glu252Lys) |
single nucleotide variant |
Fanconi anemia [RCV001962708]|Fanconi anemia complementation group I [RCV005006267] |
Chr15:89264606 [GRCh38]
Chr15:89807837 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs) |
duplication |
Fanconi anemia [RCV001996905]|Fanconi anemia complementation group I [RCV005002706] |
Chr15:89316445..89316446 [GRCh38]
Chr15:89859676..89859677 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3619C>G (p.Pro1207Ala) |
single nucleotide variant |
Fanconi anemia [RCV001990679] |
Chr15:89307640 [GRCh38]
Chr15:89850871 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu) |
single nucleotide variant |
Fanconi anemia [RCV001881455]|Fanconi anemia complementation group I [RCV002482677] |
Chr15:89293891 [GRCh38]
Chr15:89837122 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.226G>A (p.Val76Met) |
single nucleotide variant |
Fanconi anemia [RCV001961697] |
Chr15:89260781 [GRCh38]
Chr15:89804012 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89859982)_(90294462_?)dup |
duplication |
not provided [RCV001980109] |
Chr15:89859982..90294462 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1976C>T (p.Ser659Phe) |
single nucleotide variant |
Fanconi anemia [RCV001905323] |
Chr15:89291698 [GRCh38]
Chr15:89834929 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg) |
single nucleotide variant |
Fanconi anemia [RCV001923594]|Fanconi anemia complementation group I [RCV002479433]|Inborn genetic diseases [RCV004044083] |
Chr15:89295001 [GRCh38]
Chr15:89838232 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1822-3T>C |
single nucleotide variant |
Fanconi anemia [RCV002019001] |
Chr15:89290210 [GRCh38]
Chr15:89833441 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3927C>T (p.Gly1309=) |
single nucleotide variant |
Fanconi anemia [RCV001900314]|Fanconi anemia complementation group I [RCV005005327] |
Chr15:89316399 [GRCh38]
Chr15:89859630 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NC_000015.9:g.(?_89828307)_(89828469_?)del |
deletion |
Fanconi anemia [RCV001877359] |
Chr15:89828307..89828469 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2671T>G (p.Ser891Ala) |
single nucleotide variant |
Fanconi anemia [RCV001992118] |
Chr15:89299834 [GRCh38]
Chr15:89843065 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89790879)_(89860762_?)dup |
duplication |
Fanconi anemia [RCV001916311] |
Chr15:89790879..89860762 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3651+3A>G |
single nucleotide variant |
Fanconi anemia [RCV001932318] |
Chr15:89307675 [GRCh38]
Chr15:89850906 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2566A>C (p.Thr856Pro) |
single nucleotide variant |
Fanconi anemia [RCV002016189] |
Chr15:89295024 [GRCh38]
Chr15:89838255 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2224T>C (p.Cys742Arg) |
single nucleotide variant |
Fanconi anemia [RCV001992224] |
Chr15:89292996 [GRCh38]
Chr15:89836227 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1113-1G>A |
single nucleotide variant |
Fanconi anemia [RCV002029624] |
Chr15:89276710 [GRCh38]
Chr15:89819941 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_002693.3(POLG):c.3691T>G (p.Leu1231Val) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001954530] |
Chr15:89316780 [GRCh38]
Chr15:89860011 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.834del (p.Ile279fs) |
deletion |
Fanconi anemia [RCV001901773]|Fanconi anemia complementation group I [RCV003464219] |
Chr15:89268476 [GRCh38]
Chr15:89811707 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.84+16C>T |
single nucleotide variant |
Fanconi anemia [RCV002032887] |
Chr15:89247747 [GRCh38]
Chr15:89790978 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val) |
single nucleotide variant |
Fanconi anemia [RCV001933798]|Fanconi anemia complementation group I [RCV002491954] |
Chr15:89305189 [GRCh38]
Chr15:89848420 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1955T>G (p.Leu652Arg) |
single nucleotide variant |
Fanconi anemia [RCV001992435] |
Chr15:89291677 [GRCh38]
Chr15:89834908 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1330G>A (p.Val444Ile) |
single nucleotide variant |
Fanconi anemia [RCV002010586] |
Chr15:89278723 [GRCh38]
Chr15:89821954 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2810C>G (p.Thr937Arg) |
single nucleotide variant |
Fanconi anemia [RCV001916841] |
Chr15:89300306 [GRCh38]
Chr15:89843537 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val) |
single nucleotide variant |
Fanconi anemia [RCV001931377]|Fanconi anemia complementation group I [RCV002503648] |
Chr15:89299916 [GRCh38]
Chr15:89843147 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3687C>T (p.Gly1229=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002048365] |
Chr15:89316784 [GRCh38]
Chr15:89860015 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.325_326delinsAT (p.Ala109Ile) |
indel |
Fanconi anemia [RCV001931502] |
Chr15:89261621..89261622 [GRCh38]
Chr15:89804852..89804853 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr) |
single nucleotide variant |
Fanconi anemia [RCV001932731]|Fanconi anemia complementation group I [RCV002482774] |
Chr15:89301372 [GRCh38]
Chr15:89844603 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.565G>A (p.Glu189Lys) |
single nucleotide variant |
Fanconi anemia [RCV001995758] |
Chr15:89263922 [GRCh38]
Chr15:89807153 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) |
single nucleotide variant |
Fanconi anemia [RCV001979170]|Fanconi anemia complementation group I [RCV002484717] |
Chr15:89274190 [GRCh38]
Chr15:89817421 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1962A>G (p.Gln654=) |
single nucleotide variant |
Fanconi anemia [RCV001955848] |
Chr15:89291684 [GRCh38]
Chr15:89834915 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.199A>G (p.Lys67Glu) |
single nucleotide variant |
Fanconi anemia [RCV001991429] |
Chr15:89260754 [GRCh38]
Chr15:89803985 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2909T>G (p.Leu970Arg) |
single nucleotide variant |
Fanconi anemia [RCV001934012] |
Chr15:89301345 [GRCh38]
Chr15:89844576 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.772A>G (p.Thr258Ala) |
single nucleotide variant |
Fanconi anemia [RCV001990185] |
Chr15:89268415 [GRCh38]
Chr15:89811646 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1003G>A (p.Val335Ile) |
single nucleotide variant |
Fanconi anemia [RCV001971892]|Fanconi anemia complementation group I [RCV005006253] |
Chr15:89274195 [GRCh38]
Chr15:89817426 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3428C>G (p.Thr1143Arg) |
single nucleotide variant |
Fanconi anemia [RCV001931592] |
Chr15:89306085 [GRCh38]
Chr15:89849316 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3653A>G (p.Asn1218Ser) |
single nucleotide variant |
Fanconi anemia [RCV001876703] |
Chr15:89312905 [GRCh38]
Chr15:89856136 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly) |
single nucleotide variant |
Fanconi anemia [RCV001867779]|Fanconi anemia complementation group I [RCV002490044] |
Chr15:89315360 [GRCh38]
Chr15:89858591 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.191_199del (p.Arg64_Arg66del) |
deletion |
Fanconi anemia [RCV001977609] |
Chr15:89260744..89260752 [GRCh38]
Chr15:89803975..89803983 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.45C>G (p.Asp15Glu) |
single nucleotide variant |
Fanconi anemia [RCV001933127]|Fanconi anemia complementation group I [RCV005006223] |
Chr15:89247692 [GRCh38]
Chr15:89790923 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn) |
single nucleotide variant |
Fanconi anemia [RCV001993040]|Fanconi anemia complementation group I [RCV002484794] |
Chr15:89264565 [GRCh38]
Chr15:89807796 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) |
duplication |
Fanconi anemia [RCV001993199]|Fanconi anemia complementation group I [RCV003471117]|not provided [RCV004774562] |
Chr15:89307643..89307644 [GRCh38]
Chr15:89850874..89850875 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_002693.3(POLG):c.3710C>T (p.Pro1237Leu) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001869910]|not provided [RCV004793536] |
Chr15:89316761 [GRCh38]
Chr15:89859992 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1039T>C (p.Ser347Pro) |
single nucleotide variant |
Fanconi anemia [RCV002031812] |
Chr15:89274231 [GRCh38]
Chr15:89817462 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2588A>G (p.Asp863Gly) |
single nucleotide variant |
Fanconi anemia [RCV002026395] |
Chr15:89295046 [GRCh38]
Chr15:89838277 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3646G>T (p.Val1216Leu) |
single nucleotide variant |
Fanconi anemia [RCV001901279] |
Chr15:89307667 [GRCh38]
Chr15:89850898 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.955A>G (p.Ile319Val) |
single nucleotide variant |
Fanconi anemia [RCV001974845] |
Chr15:89273449 [GRCh38]
Chr15:89816680 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89811610)_(89817555_?)del |
deletion |
Fanconi anemia [RCV001992094] |
Chr15:89811610..89817555 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89858493)_(89860078_?)del |
deletion |
Fanconi anemia [RCV001866968] |
Chr15:89858493..89860078 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) |
insertion |
Fanconi anemia [RCV001877202] |
Chr15:89283193..89283194 [GRCh38]
Chr15:89826424..89826425 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.538A>T (p.Met180Leu) |
single nucleotide variant |
Fanconi anemia [RCV001870162] |
Chr15:89263453 [GRCh38]
Chr15:89806684 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3439G>A (p.Glu1147Lys) |
single nucleotide variant |
Fanconi anemia [RCV001976535] |
Chr15:89306096 [GRCh38]
Chr15:89849327 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2063G>A (p.Gly688Glu) |
single nucleotide variant |
Fanconi anemia [RCV001958121] |
Chr15:89292758 [GRCh38]
Chr15:89835989 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs) |
insertion |
Fanconi anemia [RCV001916325] |
Chr15:89293886..89293887 [GRCh38]
Chr15:89837117..89837118 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1082C>T (p.Ser361Leu) |
single nucleotide variant |
Fanconi anemia [RCV001976288] |
Chr15:89274274 [GRCh38]
Chr15:89817505 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2292-17T>C |
single nucleotide variant |
Fanconi anemia [RCV001975216] |
Chr15:89293816 [GRCh38]
Chr15:89837047 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2336A>G (p.Lys779Arg) |
single nucleotide variant |
Fanconi anemia [RCV001936873] |
Chr15:89293877 [GRCh38]
Chr15:89837108 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3848C>G (p.Thr1283Ser) |
single nucleotide variant |
Fanconi anemia [RCV001917838] |
Chr15:89315313 [GRCh38]
Chr15:89858544 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.697A>G (p.Ile233Val) |
single nucleotide variant |
Fanconi anemia [RCV002017088]|Fanconi anemia complementation group I [RCV002479782] |
Chr15:89264549 [GRCh38]
Chr15:89807780 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.501C>T (p.Gly167=) |
single nucleotide variant |
Fanconi anemia [RCV001905162] |
Chr15:89261876 [GRCh38]
Chr15:89805107 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.885A>G (p.Val295=) |
single nucleotide variant |
Fanconi anemia [RCV002035508] |
Chr15:89273379 [GRCh38]
Chr15:89816610 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2891G>A (p.Arg964Lys) |
single nucleotide variant |
Fanconi anemia [RCV001993761] |
Chr15:89301327 [GRCh38]
Chr15:89844558 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) |
deletion |
Fanconi anemia [RCV001957738]|Fanconi anemia complementation group I [RCV002503674] |
Chr15:89305174..89305175 [GRCh38]
Chr15:89848405..89848406 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1038C>T (p.Gly346=) |
single nucleotide variant |
Fanconi anemia [RCV001997658] |
Chr15:89274230 [GRCh38]
Chr15:89817461 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg) |
single nucleotide variant |
Fanconi anemia [RCV001916667] |
Chr15:89247697 [GRCh38]
Chr15:89790928 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1411C>G (p.Pro471Ala) |
single nucleotide variant |
Fanconi anemia [RCV001954518] |
Chr15:89281199 [GRCh38]
Chr15:89824430 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.301C>T (p.Pro101Ser) |
single nucleotide variant |
Fanconi anemia [RCV002018886] |
Chr15:89261597 [GRCh38]
Chr15:89804828 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1363C>A (p.Pro455Thr) |
single nucleotide variant |
Fanconi anemia [RCV001954542] |
Chr15:89278756 [GRCh38]
Chr15:89821987 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3475G>T (p.Val1159Leu) |
single nucleotide variant |
Fanconi anemia [RCV002027191]|Fanconi anemia complementation group I [RCV005008432] |
Chr15:89306132 [GRCh38]
Chr15:89849363 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1132G>T (p.Val378Phe) |
single nucleotide variant |
Fanconi anemia [RCV001935337] |
Chr15:89276730 [GRCh38]
Chr15:89819961 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.416C>T (p.Thr139Met) |
single nucleotide variant |
Fanconi anemia [RCV001881448] |
Chr15:89261712 [GRCh38]
Chr15:89804943 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.497C>G (p.Ser166Cys) |
single nucleotide variant |
Fanconi anemia [RCV001957833] |
Chr15:89261872 [GRCh38]
Chr15:89805103 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2728G>C (p.Glu910Gln) |
single nucleotide variant |
Fanconi anemia [RCV001976910] |
Chr15:89299891 [GRCh38]
Chr15:89843122 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2750G>A (p.Ser917Asn) |
single nucleotide variant |
Fanconi anemia [RCV001975618] |
Chr15:89299913 [GRCh38]
Chr15:89843144 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.975+3A>G |
single nucleotide variant |
Fanconi anemia [RCV001886346] |
Chr15:89273472 [GRCh38]
Chr15:89816703 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.634C>T (p.Pro212Ser) |
single nucleotide variant |
Fanconi anemia [RCV002027291] |
Chr15:89263991 [GRCh38]
Chr15:89807222 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3720G>A (p.Ter1240=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001977064] |
Chr15:89316751 [GRCh38]
Chr15:89859982 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln) |
single nucleotide variant |
Fanconi anemia [RCV002047251]|Fanconi anemia complementation group I [RCV002489941] |
Chr15:89285202 [GRCh38]
Chr15:89828433 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2766C>G (p.Phe922Leu) |
single nucleotide variant |
Fanconi anemia [RCV001975797] |
Chr15:89299929 [GRCh38]
Chr15:89843160 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89790879)_(89859690_?)dup |
duplication |
Fanconi anemia [RCV001880777] |
Chr15:89790879..89859690 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1779A>G (p.Arg593=) |
single nucleotide variant |
Fanconi anemia [RCV001923512] |
Chr15:89285176 [GRCh38]
Chr15:89828407 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.1649T>C (p.Leu550Ser) |
single nucleotide variant |
Fanconi anemia [RCV002048571] |
Chr15:89283201 [GRCh38]
Chr15:89826432 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met) |
single nucleotide variant |
Fanconi anemia [RCV001918349]|Fanconi anemia complementation group I [RCV002503563]|Inborn genetic diseases [RCV003167110] |
Chr15:89305658 [GRCh38]
Chr15:89848889 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.688T>G (p.Leu230Val) |
single nucleotide variant |
Fanconi anemia [RCV001918365] |
Chr15:89264540 [GRCh38]
Chr15:89807771 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2936G>A (p.Ser979Asn) |
single nucleotide variant |
Fanconi anemia [RCV001934330] |
Chr15:89301372 [GRCh38]
Chr15:89844603 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.950C>G (p.Thr317Arg) |
single nucleotide variant |
Fanconi anemia [RCV002036396] |
Chr15:89273444 [GRCh38]
Chr15:89816675 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89753516)_(89838345_?)del |
deletion |
not provided [RCV001953756] |
Chr15:89753516..89838345 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu) |
single nucleotide variant |
Fanconi anemia [RCV001869911] |
Chr15:89258719 [GRCh38]
Chr15:89801950 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1494G>T (p.Arg498Ser) |
single nucleotide variant |
Fanconi anemia [RCV001977254] |
Chr15:89281282 [GRCh38]
Chr15:89824513 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2843A>G (p.Asp948Gly) |
single nucleotide variant |
Fanconi anemia [RCV001980912] |
Chr15:89300339 [GRCh38]
Chr15:89843570 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3925G>A (p.Gly1309Ser) |
single nucleotide variant |
Fanconi anemia [RCV001973567] |
Chr15:89316397 [GRCh38]
Chr15:89859628 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1993-7C>G |
single nucleotide variant |
Fanconi anemia [RCV001901305] |
Chr15:89292681 [GRCh38]
Chr15:89835912 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3506T>C (p.Met1169Thr) |
single nucleotide variant |
Fanconi anemia [RCV001886073] |
Chr15:89306163 [GRCh38]
Chr15:89849394 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2095T>A (p.Tyr699Asn) |
single nucleotide variant |
Fanconi anemia [RCV001920130] |
Chr15:89292790 [GRCh38]
Chr15:89836021 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1293+1G>A |
single nucleotide variant |
Fanconi anemia [RCV001990629] |
Chr15:89276892 [GRCh38]
Chr15:89820123 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.614T>G (p.Met205Arg) |
single nucleotide variant |
Fanconi anemia [RCV001923790] |
Chr15:89263971 [GRCh38]
Chr15:89807202 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.243G>T (p.Leu81Phe) |
single nucleotide variant |
Fanconi anemia [RCV002047754]|Fanconi anemia complementation group I [RCV005002768] |
Chr15:89260798 [GRCh38]
Chr15:89804029 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg) |
single nucleotide variant |
Fanconi anemia [RCV001932912]|Fanconi anemia complementation group I [RCV002491878]|not provided [RCV004693957] |
Chr15:89303901 [GRCh38]
Chr15:89847132 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1373A>G (p.His458Arg) |
single nucleotide variant |
Fanconi anemia [RCV001997131] |
Chr15:89278766 [GRCh38]
Chr15:89821997 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.182G>A (p.Gly61Glu) |
single nucleotide variant |
Fanconi anemia [RCV001922268] |
Chr15:89260737 [GRCh38]
Chr15:89803968 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter) |
single nucleotide variant |
Fanconi anemia [RCV001958852] |
Chr15:89281179 [GRCh38]
Chr15:89824410 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.898G>T (p.Asp300Tyr) |
single nucleotide variant |
Fanconi anemia [RCV001923456] |
Chr15:89273392 [GRCh38]
Chr15:89816623 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2683T>G (p.Ser895Ala) |
single nucleotide variant |
Fanconi anemia [RCV002017912] |
Chr15:89299846 [GRCh38]
Chr15:89843077 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1163T>C (p.Ile388Thr) |
single nucleotide variant |
Fanconi anemia [RCV001924564] |
Chr15:89276761 [GRCh38]
Chr15:89819992 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.429T>A (p.Asn143Lys) |
single nucleotide variant |
Fanconi anemia [RCV001960196] |
Chr15:89261725 [GRCh38]
Chr15:89804956 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) |
microsatellite |
Fanconi anemia [RCV001924375]|Fanconi anemia complementation group I [RCV002479454] |
Chr15:89293882..89293883 [GRCh38]
Chr15:89837113..89837114 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.3924+3C>T |
single nucleotide variant |
Fanconi anemia [RCV001884289] |
Chr15:89315392 [GRCh38]
Chr15:89858623 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2804-1G>C |
single nucleotide variant |
Fanconi anemia [RCV002035064] |
Chr15:89300299 [GRCh38]
Chr15:89843530 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2029del (p.Trp677fs) |
deletion |
Fanconi anemia [RCV001960585] |
Chr15:89292724 [GRCh38]
Chr15:89835955 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3830A>G (p.Gln1277Arg) |
single nucleotide variant |
Fanconi anemia [RCV001982327] |
Chr15:89315295 [GRCh38]
Chr15:89858526 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3925-10_3935inv |
inversion |
Fanconi anemia [RCV002051358] |
Chr15:89316387..89316407 [GRCh38]
Chr15:89859618..89859638 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3733C>T (p.Arg1245Trp) |
single nucleotide variant |
Fanconi anemia [RCV001903713] |
Chr15:89314624 [GRCh38]
Chr15:89857855 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.755+3G>A |
single nucleotide variant |
Fanconi anemia [RCV001917739] |
Chr15:89264610 [GRCh38]
Chr15:89807841 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1138C>G (p.Gln380Glu) |
single nucleotide variant |
Fanconi anemia [RCV001991828] |
Chr15:89276736 [GRCh38]
Chr15:89819967 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2849G>C (p.Ser950Thr) |
single nucleotide variant |
Fanconi anemia [RCV002012448]|Fanconi anemia complementation group I [RCV005002759] |
Chr15:89300345 [GRCh38]
Chr15:89843576 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3124C>G (p.Pro1042Ala) |
single nucleotide variant |
Fanconi anemia [RCV001920355] |
Chr15:89305180 [GRCh38]
Chr15:89848411 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys) |
single nucleotide variant |
Fanconi anemia [RCV001990154]|Fanconi anemia complementation group I [RCV002479570] |
Chr15:89264001 [GRCh38]
Chr15:89807232 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr) |
single nucleotide variant |
Fanconi anemia [RCV001901768] |
Chr15:89247651 [GRCh38]
Chr15:89790882 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1583A>C (p.Asn528Thr) |
single nucleotide variant |
Fanconi anemia [RCV001901808] |
Chr15:89281835 [GRCh38]
Chr15:89825066 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1584-14T>G |
single nucleotide variant |
Fanconi anemia [RCV001921458] |
Chr15:89283122 [GRCh38]
Chr15:89826353 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.838A>C (p.Lys280Gln) |
single nucleotide variant |
Fanconi anemia [RCV002029166] |
Chr15:89268481 [GRCh38]
Chr15:89811712 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.337A>C (p.Ile113Leu) |
single nucleotide variant |
Fanconi anemia [RCV002028332] |
Chr15:89261633 [GRCh38]
Chr15:89804864 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1525G>A (p.Val509Ile) |
single nucleotide variant |
Fanconi anemia [RCV002009962] |
Chr15:89281777 [GRCh38]
Chr15:89825008 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2291+2T>A |
single nucleotide variant |
Fanconi anemia [RCV001992032]|Fanconi anemia complementation group I [RCV003464371] |
Chr15:89293065 [GRCh38]
Chr15:89836296 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1512+1G>A |
single nucleotide variant |
Fanconi anemia [RCV002016812] |
Chr15:89281301 [GRCh38]
Chr15:89824532 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_002693.3(POLG):c.3686G>A (p.Gly1229Asp) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002032207] |
Chr15:89316785 [GRCh38]
Chr15:89860016 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3671T>G (p.Ile1224Ser) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001883236] |
Chr15:89316800 [GRCh38]
Chr15:89860031 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.247A>G (p.Lys83Glu) |
single nucleotide variant |
Fanconi anemia [RCV001881612] |
Chr15:89260802 [GRCh38]
Chr15:89804033 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1583+3A>G |
single nucleotide variant |
Fanconi anemia [RCV001994072] |
Chr15:89281838 [GRCh38]
Chr15:89825069 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3730C>A (p.Leu1244Ile) |
single nucleotide variant |
Fanconi anemia [RCV001883254] |
Chr15:89314621 [GRCh38]
Chr15:89857852 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2636G>A (p.Arg879Gln) |
single nucleotide variant |
Fanconi anemia [RCV001952646] |
Chr15:89295094 [GRCh38]
Chr15:89838325 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly) |
single nucleotide variant |
Fanconi anemia [RCV001900461]|Fanconi anemia complementation group I [RCV002478198] |
Chr15:89295085 [GRCh38]
Chr15:89838316 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3816+4A>G |
single nucleotide variant |
Fanconi anemia [RCV001934545]|Fanconi anemia complementation group I [RCV005005315] |
Chr15:89314711 [GRCh38]
Chr15:89857942 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.706_707delinsGC (p.Phe236Ala) |
indel |
Fanconi anemia [RCV002051112] |
Chr15:89264558..89264559 [GRCh38]
Chr15:89807789..89807790 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1294-11G>C |
single nucleotide variant |
Fanconi anemia [RCV002109775] |
Chr15:89278676 [GRCh38]
Chr15:89821907 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3678G>A (p.Thr1226=) |
single nucleotide variant |
Fanconi anemia [RCV002192748] |
Chr15:89312930 [GRCh38]
Chr15:89856161 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3538-10T>C |
single nucleotide variant |
Fanconi anemia [RCV002192313] |
Chr15:89307466 [GRCh38]
Chr15:89850697 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2091A>G (p.Ala697=) |
single nucleotide variant |
Fanconi anemia [RCV002110065] |
Chr15:89292786 [GRCh38]
Chr15:89836017 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.609C>T (p.Ser203=) |
single nucleotide variant |
Fanconi anemia [RCV002205835] |
Chr15:89263966 [GRCh38]
Chr15:89807197 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2291+12C>G |
single nucleotide variant |
Fanconi anemia [RCV002186095]|Fanconi anemia complementation group I [RCV002500397] |
Chr15:89293075 [GRCh38]
Chr15:89836306 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2447C>G (p.Ala816Gly) |
single nucleotide variant |
Fanconi anemia [RCV002124636] |
Chr15:89293988 [GRCh38]
Chr15:89837219 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2170-6T>C |
single nucleotide variant |
Fanconi anemia [RCV002189280] |
Chr15:89292936 [GRCh38]
Chr15:89836167 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1822-12G>C |
single nucleotide variant |
Fanconi anemia [RCV002207318] |
Chr15:89290201 [GRCh38]
Chr15:89833432 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3720+16_3720+19del |
deletion |
Fanconi anemia [RCV002110705] |
Chr15:89312986..89312989 [GRCh38]
Chr15:89856217..89856220 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.289-17A>G |
single nucleotide variant |
Fanconi anemia [RCV002166884] |
Chr15:89261568 [GRCh38]
Chr15:89804799 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3594G>A (p.Val1198=) |
single nucleotide variant |
Fanconi anemia [RCV002106600] |
Chr15:89307615 [GRCh38]
Chr15:89850846 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3117T>C (p.Tyr1039=) |
single nucleotide variant |
Fanconi anemia [RCV002169410] |
Chr15:89305173 [GRCh38]
Chr15:89848404 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2949C>A (p.Leu983=) |
single nucleotide variant |
Fanconi anemia [RCV002107697] |
Chr15:89301385 [GRCh38]
Chr15:89844616 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.546-18A>G |
single nucleotide variant |
Fanconi anemia [RCV002170343] |
Chr15:89263885 [GRCh38]
Chr15:89807116 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3549G>A (p.Val1183=) |
single nucleotide variant |
Fanconi anemia [RCV002112637] |
Chr15:89307487 [GRCh38]
Chr15:89850718 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro) |
single nucleotide variant |
Fanconi anemia [RCV003101216]|Fanconi anemia complementation group I [RCV002208736]|Inborn genetic diseases [RCV003365709] |
Chr15:89312961 [GRCh38]
Chr15:89856192 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.837C>T (p.Ile279=) |
single nucleotide variant |
Fanconi anemia [RCV002147284] |
Chr15:89268480 [GRCh38]
Chr15:89811711 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3711T>G (p.Pro1237=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002209216] |
Chr15:89316760 [GRCh38]
Chr15:89859991 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.445+13C>T |
single nucleotide variant |
Fanconi anemia [RCV002145843] |
Chr15:89261754 [GRCh38]
Chr15:89804985 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.735T>C (p.Asn245=) |
single nucleotide variant |
Fanconi anemia [RCV002208939] |
Chr15:89264587 [GRCh38]
Chr15:89807818 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3918T>C (p.Asn1306=) |
single nucleotide variant |
Fanconi anemia [RCV002187346] |
Chr15:89315383 [GRCh38]
Chr15:89858614 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1822-18C>T |
single nucleotide variant |
Fanconi anemia [RCV002072490]|Fanconi anemia complementation group I [RCV002498104] |
Chr15:89290195 [GRCh38]
Chr15:89833426 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.975+11A>T |
single nucleotide variant |
Fanconi anemia [RCV002086575] |
Chr15:89273480 [GRCh38]
Chr15:89816711 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3654G>A (p.Leu1218=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002205106]|not provided [RCV003326607] |
Chr15:89316817 [GRCh38]
Chr15:89860048 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1113-11T>C |
single nucleotide variant |
Fanconi anemia [RCV002088255] |
Chr15:89276700 [GRCh38]
Chr15:89819931 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.277C>T (p.Leu93=) |
single nucleotide variant |
Fanconi anemia [RCV002091491] |
Chr15:89260832 [GRCh38]
Chr15:89804063 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3349+10G>A |
single nucleotide variant |
Fanconi anemia [RCV002126479] |
Chr15:89305708 [GRCh38]
Chr15:89848939 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1699-17del |
deletion |
Fanconi anemia [RCV002105104]|Fanconi anemia complementation group I [RCV002479903] |
Chr15:89285078 [GRCh38]
Chr15:89828309 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.976-9A>G |
single nucleotide variant |
Fanconi anemia [RCV002110078] |
Chr15:89274159 [GRCh38]
Chr15:89817390 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1044A>G (p.Lys348=) |
single nucleotide variant |
Fanconi anemia [RCV002079589] |
Chr15:89274236 [GRCh38]
Chr15:89817467 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2896T>C (p.Leu966=) |
single nucleotide variant |
Fanconi anemia [RCV002096045] |
Chr15:89301332 [GRCh38]
Chr15:89844563 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2484C>T (p.Ser828=) |
single nucleotide variant |
Fanconi anemia [RCV002131480] |
Chr15:89294942 [GRCh38]
Chr15:89838173 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1513-16A>C |
single nucleotide variant |
Fanconi anemia [RCV002112623]|Fanconi anemia complementation group I [RCV002507987] |
Chr15:89281749 [GRCh38]
Chr15:89824980 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.39A>T (p.Thr13=) |
single nucleotide variant |
Fanconi anemia [RCV002133943] |
Chr15:89247686 [GRCh38]
Chr15:89790917 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2291+15T>C |
single nucleotide variant |
Fanconi anemia [RCV002126075] |
Chr15:89293078 [GRCh38]
Chr15:89836309 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3678G>C (p.Thr1226=) |
single nucleotide variant |
Fanconi anemia [RCV002131246] |
Chr15:89312930 [GRCh38]
Chr15:89856161 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3255+16G>A |
single nucleotide variant |
Fanconi anemia [RCV002116605] |
Chr15:89305425 [GRCh38]
Chr15:89848656 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-23TC[3] |
microsatellite |
Fanconi anemia [RCV002096975] |
Chr15:89294892..89294895 [GRCh38]
Chr15:89838123..89838126 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1092C>T (p.Ile364=) |
single nucleotide variant |
Fanconi anemia [RCV002213401] |
Chr15:89274284 [GRCh38]
Chr15:89817515 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3924+16T>G |
single nucleotide variant |
Fanconi anemia [RCV002111749] |
Chr15:89315405 [GRCh38]
Chr15:89858636 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.504-16C>T |
single nucleotide variant |
Fanconi anemia [RCV002196389] |
Chr15:89263403 [GRCh38]
Chr15:89806634 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2292-18C>A |
single nucleotide variant |
Fanconi anemia [RCV002175053] |
Chr15:89293815 [GRCh38]
Chr15:89837046 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2721G>A (p.Leu907=) |
single nucleotide variant |
Fanconi anemia [RCV002144972] |
Chr15:89299884 [GRCh38]
Chr15:89843115 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3720+20C>T |
single nucleotide variant |
Fanconi anemia [RCV002109959] |
Chr15:89312992 [GRCh38]
Chr15:89856223 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2310C>T (p.Asp770=) |
single nucleotide variant |
Fanconi anemia [RCV002094284] |
Chr15:89293851 [GRCh38]
Chr15:89837082 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.158-19C>A |
single nucleotide variant |
Fanconi anemia [RCV002195226] |
Chr15:89260694 [GRCh38]
Chr15:89803925 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.558G>T (p.Leu186=) |
single nucleotide variant |
Fanconi anemia [RCV002128235] |
Chr15:89263915 [GRCh38]
Chr15:89807146 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.760T>C (p.Leu254=) |
single nucleotide variant |
Fanconi anemia [RCV002116838] |
Chr15:89268403 [GRCh38]
Chr15:89811634 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1954C>T (p.Leu652=) |
single nucleotide variant |
Fanconi anemia [RCV002213975]|not provided [RCV003403722] |
Chr15:89291676 [GRCh38]
Chr15:89834907 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.445+14G>A |
single nucleotide variant |
Fanconi anemia [RCV002097677] |
Chr15:89261755 [GRCh38]
Chr15:89804986 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.669+14A>G |
single nucleotide variant |
Fanconi anemia [RCV002081080]|Fanconi anemia complementation group I [RCV002498294] |
Chr15:89264040 [GRCh38]
Chr15:89807271 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1251T>C (p.His417=) |
single nucleotide variant |
Fanconi anemia [RCV002115373] |
Chr15:89276849 [GRCh38]
Chr15:89820080 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1992+15C>T |
single nucleotide variant |
Fanconi anemia [RCV002134853] |
Chr15:89291729 [GRCh38]
Chr15:89834960 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-11C>T |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002215880] |
Chr15:89316838 [GRCh38]
Chr15:89860069 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2170-7C>A |
single nucleotide variant |
Fanconi anemia [RCV002196408] |
Chr15:89292935 [GRCh38]
Chr15:89836166 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1993-6C>T |
single nucleotide variant |
Fanconi anemia [RCV002096462] |
Chr15:89292682 [GRCh38]
Chr15:89835913 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2637-15T>C |
single nucleotide variant |
Fanconi anemia [RCV002213789] |
Chr15:89299785 [GRCh38]
Chr15:89843016 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.288+13A>T |
single nucleotide variant |
Fanconi anemia [RCV002153454] |
Chr15:89260856 [GRCh38]
Chr15:89804087 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.165C>T (p.Pro55=) |
single nucleotide variant |
Fanconi anemia [RCV002076145]|Fanconi anemia complementation group I [RCV002494339] |
Chr15:89260720 [GRCh38]
Chr15:89803951 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3675T>C (p.Tyr1225=) |
single nucleotide variant |
Fanconi anemia [RCV002112541] |
Chr15:89312927 [GRCh38]
Chr15:89856158 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3652-14T>G |
single nucleotide variant |
Fanconi anemia [RCV002115201] |
Chr15:89312890 [GRCh38]
Chr15:89856121 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1384C>T (p.Leu462=) |
single nucleotide variant |
Fanconi anemia [RCV002196562] |
Chr15:89281172 [GRCh38]
Chr15:89824403 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.545+12C>G |
single nucleotide variant |
Fanconi anemia [RCV002112699] |
Chr15:89263472 [GRCh38]
Chr15:89806703 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.546-19T>C |
single nucleotide variant |
Fanconi anemia [RCV002079565] |
Chr15:89263884 [GRCh38]
Chr15:89807115 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1662A>G (p.Ser554=) |
single nucleotide variant |
Fanconi anemia [RCV002105652] |
Chr15:89283214 [GRCh38]
Chr15:89826445 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2169+9T>C |
single nucleotide variant |
Fanconi anemia [RCV002132600] |
Chr15:89292873 [GRCh38]
Chr15:89836104 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1698+11T>C |
single nucleotide variant |
Fanconi anemia [RCV002185322] |
Chr15:89283261 [GRCh38]
Chr15:89826492 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.114G>A (p.Val38=) |
single nucleotide variant |
Fanconi anemia [RCV002106072] |
Chr15:89258733 [GRCh38]
Chr15:89801964 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3006+20A>C |
single nucleotide variant |
Fanconi anemia [RCV002215503] |
Chr15:89301462 [GRCh38]
Chr15:89844693 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-14C>G |
single nucleotide variant |
Fanconi anemia [RCV002116033] |
Chr15:89316383 [GRCh38]
Chr15:89859614 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_002693.3(POLG):c.3644-14G>A |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002174548] |
Chr15:89316841 [GRCh38]
Chr15:89860072 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3864G>A (p.Lys1288=) |
single nucleotide variant |
Fanconi anemia [RCV002113731] |
Chr15:89315329 [GRCh38]
Chr15:89858560 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.642C>G (p.Val214=) |
single nucleotide variant |
Fanconi anemia [RCV002095053] |
Chr15:89263999 [GRCh38]
Chr15:89807230 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1699-20T>C |
single nucleotide variant |
Fanconi anemia [RCV002145620] |
Chr15:89285076 [GRCh38]
Chr15:89828307 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3652-10A>T |
single nucleotide variant |
Fanconi anemia [RCV002132924]|Fanconi anemia complementation group I [RCV002494387] |
Chr15:89312894 [GRCh38]
Chr15:89856125 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3652-18del |
deletion |
Fanconi anemia [RCV002083075] |
Chr15:89312886 [GRCh38]
Chr15:89856117 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.288+18_288+19delinsTC |
indel |
Fanconi anemia [RCV002199576] |
Chr15:89260861..89260862 [GRCh38]
Chr15:89804092..89804093 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.798T>C (p.His266=) |
single nucleotide variant |
Fanconi anemia [RCV002119370] |
Chr15:89268441 [GRCh38]
Chr15:89811672 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1584-15C>G |
single nucleotide variant |
Fanconi anemia [RCV002203613] |
Chr15:89283121 [GRCh38]
Chr15:89826352 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1734C>T (p.Val578=) |
single nucleotide variant |
Fanconi anemia [RCV002201920] |
Chr15:89285131 [GRCh38]
Chr15:89828362 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3652-16G>C |
single nucleotide variant |
Fanconi anemia [RCV002098327] |
Chr15:89312888 [GRCh38]
Chr15:89856119 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.882+15G>T |
single nucleotide variant |
Fanconi anemia [RCV002220918]|Fanconi anemia complementation group I [RCV005008454] |
Chr15:89268540 [GRCh38]
Chr15:89811771 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3592-9G>A |
single nucleotide variant |
Fanconi anemia [RCV002160361]|Fanconi anemia complementation group I [RCV002480964] |
Chr15:89307604 [GRCh38]
Chr15:89850835 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2736A>G (p.Leu912=) |
single nucleotide variant |
Fanconi anemia [RCV002100572] |
Chr15:89299899 [GRCh38]
Chr15:89843130 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.84+19G>A |
single nucleotide variant |
Fanconi anemia [RCV002176151] |
Chr15:89247750 [GRCh38]
Chr15:89790981 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2343C>G (p.Leu781=) |
single nucleotide variant |
Fanconi anemia [RCV002142091] |
Chr15:89293884 [GRCh38]
Chr15:89837115 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2890-13C>T |
single nucleotide variant |
Fanconi anemia [RCV002199108] |
Chr15:89301313 [GRCh38]
Chr15:89844544 [GRCh37]
Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001113378.2(FANCI):c.2170-7C>G |
single nucleotide variant |
Fanconi anemia [RCV002257256] |
Chr15:89292935 [GRCh38]
Chr15:89836166 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2774C>T (p.Pro925Leu) |
single nucleotide variant |
Fanconi anemia [RCV002258576] |
Chr15:89299937 [GRCh38]
Chr15:89843168 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1824G>A (p.Gly608=) |
single nucleotide variant |
Fanconi anemia [RCV002140807] |
Chr15:89290215 [GRCh38]
Chr15:89833446 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2803+15A>T |
single nucleotide variant |
Fanconi anemia [RCV002081155] |
Chr15:89299981 [GRCh38]
Chr15:89843212 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2456+10T>C |
single nucleotide variant |
Fanconi anemia [RCV002081397] |
Chr15:89294007 [GRCh38]
Chr15:89837238 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1513-13G>C |
single nucleotide variant |
Fanconi anemia [RCV002175391] |
Chr15:89281752 [GRCh38]
Chr15:89824983 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2292-5dup |
duplication |
Fanconi anemia [RCV002163420] |
Chr15:89293822..89293823 [GRCh38]
Chr15:89837053..89837054 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.288+13del |
deletion |
Fanconi anemia [RCV002216825] |
Chr15:89260854 [GRCh38]
Chr15:89804085 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.288+15_288+16insGT |
insertion |
Fanconi anemia [RCV002216826] |
Chr15:89260858..89260859 [GRCh38]
Chr15:89804089..89804090 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.158-16T>C |
single nucleotide variant |
Fanconi anemia [RCV002203936] |
Chr15:89260697 [GRCh38]
Chr15:89803928 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3273G>A (p.Gln1091=) |
single nucleotide variant |
Fanconi anemia [RCV002143160] |
Chr15:89305622 [GRCh38]
Chr15:89848853 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.180T>C (p.Ala60=) |
single nucleotide variant |
Fanconi anemia [RCV002200226] |
Chr15:89260735 [GRCh38]
Chr15:89803966 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1822-7C>G |
single nucleotide variant |
Fanconi anemia [RCV002118188] |
Chr15:89290206 [GRCh38]
Chr15:89833437 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2868A>G (p.Ala956=) |
single nucleotide variant |
Fanconi anemia [RCV002156584] |
Chr15:89300364 [GRCh38]
Chr15:89843595 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.84+6dup |
duplication |
Fanconi anemia [RCV002102519] |
Chr15:89247736..89247737 [GRCh38]
Chr15:89790967..89790968 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-17A>G |
single nucleotide variant |
Fanconi anemia [RCV002120246] |
Chr15:89316380 [GRCh38]
Chr15:89859611 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2892G>A (p.Arg964=) |
single nucleotide variant |
Fanconi anemia [RCV002176158] |
Chr15:89301328 [GRCh38]
Chr15:89844559 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.579T>C (p.Phe193=) |
single nucleotide variant |
Fanconi anemia [RCV002120402] |
Chr15:89263936 [GRCh38]
Chr15:89807167 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1161C>T (p.Phe387=) |
single nucleotide variant |
Fanconi anemia [RCV002098947] |
Chr15:89276759 [GRCh38]
Chr15:89819990 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.519T>C (p.Tyr173=) |
single nucleotide variant |
Fanconi anemia [RCV002120568] |
Chr15:89263434 [GRCh38]
Chr15:89806665 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3058+10C>T |
single nucleotide variant |
Fanconi anemia [RCV002164336] |
Chr15:89303925 [GRCh38]
Chr15:89847156 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3721-20C>G |
single nucleotide variant |
Fanconi anemia [RCV002217793] |
Chr15:89314592 [GRCh38]
Chr15:89857823 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3592-16C>T |
single nucleotide variant |
Fanconi anemia [RCV002120828]|Fanconi anemia complementation group I [RCV002500189] |
Chr15:89307597 [GRCh38]
Chr15:89850828 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1365C>T (p.Pro455=) |
single nucleotide variant |
Fanconi anemia [RCV002137284] |
Chr15:89278758 [GRCh38]
Chr15:89821989 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1382-18A>T |
single nucleotide variant |
Fanconi anemia [RCV002180561] |
Chr15:89281152 [GRCh38]
Chr15:89824383 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.755+11T>C |
single nucleotide variant |
Fanconi anemia [RCV002097998] |
Chr15:89264618 [GRCh38]
Chr15:89807849 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.219C>T (p.Ile73=) |
single nucleotide variant |
Fanconi anemia [RCV002121529] |
Chr15:89260774 [GRCh38]
Chr15:89804005 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3059-17T>A |
single nucleotide variant |
Fanconi anemia [RCV002144582]|Fanconi anemia complementation group I [RCV002494476] |
Chr15:89305098 [GRCh38]
Chr15:89848329 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3924+8C>T |
single nucleotide variant |
Fanconi anemia [RCV002202092] |
Chr15:89315397 [GRCh38]
Chr15:89858628 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.741A>G (p.Glu247=) |
single nucleotide variant |
Fanconi anemia [RCV002217113] |
Chr15:89264593 [GRCh38]
Chr15:89807824 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3350-8C>T |
single nucleotide variant |
Fanconi anemia [RCV002123314] |
Chr15:89305999 [GRCh38]
Chr15:89849230 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2636+7C>A |
single nucleotide variant |
Fanconi anemia [RCV002161805] |
Chr15:89295101 [GRCh38]
Chr15:89838332 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2292-6T>C |
single nucleotide variant |
Fanconi anemia [RCV002181333] |
Chr15:89293827 [GRCh38]
Chr15:89837058 [GRCh37]
Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001113378.2(FANCI):c.3350-11T>C |
single nucleotide variant |
Fanconi anemia [RCV002203945] |
Chr15:89305996 [GRCh38]
Chr15:89849227 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.545+7A>G |
single nucleotide variant |
Fanconi anemia [RCV002183532] |
Chr15:89263467 [GRCh38]
Chr15:89806698 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.924C>T (p.Phe308=) |
single nucleotide variant |
Fanconi anemia [RCV002157161] |
Chr15:89273418 [GRCh38]
Chr15:89816649 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1386G>A (p.Leu462=) |
single nucleotide variant |
Fanconi anemia [RCV002139210] |
Chr15:89281174 [GRCh38]
Chr15:89824405 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=) |
single nucleotide variant |
Fanconi anemia [RCV002184837]|Fanconi anemia complementation group I [RCV002507888] |
Chr15:89307666 [GRCh38]
Chr15:89850897 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-10C>G |
single nucleotide variant |
Fanconi anemia [RCV002179107] |
Chr15:89316387 [GRCh38]
Chr15:89859618 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.84+7A>T |
single nucleotide variant |
Fanconi anemia [RCV002159616] |
Chr15:89247738 [GRCh38]
Chr15:89790969 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.503+11T>C |
single nucleotide variant |
Fanconi anemia [RCV002081640] |
Chr15:89261889 [GRCh38]
Chr15:89805120 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3537+19C>G |
single nucleotide variant |
Fanconi anemia [RCV002119718]|Fanconi anemia complementation group I [RCV002499958] |
Chr15:89306213 [GRCh38]
Chr15:89849444 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.534C>T (p.Thr178=) |
single nucleotide variant |
Fanconi anemia [RCV002218931]|Fanconi anemia complementation group I [RCV002486837] |
Chr15:89263449 [GRCh38]
Chr15:89806680 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1821+13A>G |
single nucleotide variant |
Fanconi anemia [RCV002137819] |
Chr15:89285231 [GRCh38]
Chr15:89828462 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2890-19G>A |
single nucleotide variant |
Fanconi anemia [RCV002082018]|Fanconi anemia complementation group I [RCV002500125] |
Chr15:89301307 [GRCh38]
Chr15:89844538 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1993-19_1993-15del |
deletion |
Fanconi anemia [RCV002159922] |
Chr15:89292667..89292671 [GRCh38]
Chr15:89835898..89835902 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.446-17A>G |
single nucleotide variant |
Fanconi anemia [RCV002120230] |
Chr15:89261804 [GRCh38]
Chr15:89805035 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3691T>C (p.Leu1231=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002139853] |
Chr15:89316780 [GRCh38]
Chr15:89860011 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3114G>T (p.Ser1038=) |
single nucleotide variant |
Fanconi anemia [RCV002160508] |
Chr15:89305170 [GRCh38]
Chr15:89848401 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3651G>A (p.Ala1217=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002098961]|not provided [RCV003883780] |
Chr15:89316820 [GRCh38]
Chr15:89860051 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.883-16_883-15del |
deletion |
Fanconi anemia [RCV002178118] |
Chr15:89273361..89273362 [GRCh38]
Chr15:89816592..89816593 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3069G>A (p.Leu1023=) |
single nucleotide variant |
Fanconi anemia [RCV002204462] |
Chr15:89305125 [GRCh38]
Chr15:89848356 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2636+20T>C |
single nucleotide variant |
Fanconi anemia [RCV002157157] |
Chr15:89295114 [GRCh38]
Chr15:89838345 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3007-7A>G |
single nucleotide variant |
Fanconi anemia [RCV002158922]|Fanconi anemia complementation group I [RCV002500356] |
Chr15:89303857 [GRCh38]
Chr15:89847088 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.564A>G (p.Ala188=) |
single nucleotide variant |
Fanconi anemia [RCV002199235] |
Chr15:89263921 [GRCh38]
Chr15:89807152 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) |
single nucleotide variant |
Fanconi anemia [RCV002122836]|Fanconi anemia complementation group I [RCV002494270] |
Chr15:89303908 [GRCh38]
Chr15:89847139 [GRCh37]
Chr15:15q26.1 |
benign|likely benign |
| NM_001113378.2(FANCI):c.445+19T>C |
single nucleotide variant |
Fanconi anemia [RCV002177133] |
Chr15:89261760 [GRCh38]
Chr15:89804991 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3686G>T (p.Gly1229Val) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003110835] |
Chr15:89316785 [GRCh38]
Chr15:89860016 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89379429)_(91565479_?)dup |
duplication |
D-2-hydroxyglutaric aciduria 2 [RCV003111027]|not provided [RCV003111026] |
Chr15:89379429..91565479 [GRCh37]
Chr15:15q26.1 |
uncertain significance|no classifications from unflagged records |
| NM_002693.3(POLG):c.3706C>T (p.Gln1236Ter) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003109637] |
Chr15:89316765 [GRCh38]
Chr15:89859996 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2840C>T (p.Ala947Val) |
single nucleotide variant |
Fanconi anemia [RCV003115970] |
Chr15:89300336 [GRCh38]
Chr15:89843567 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1900T>C (p.Phe634Leu) |
single nucleotide variant |
Fanconi anemia [RCV003117182] |
Chr15:89291622 [GRCh38]
Chr15:89834853 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89859982)_(89876985_?)dup |
duplication |
Progressive sclerosing poliodystrophy [RCV003122609] |
Chr15:89859982..89876985 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2233C>T (p.Leu745Phe) |
single nucleotide variant |
Fanconi anemia [RCV003121533] |
Chr15:89293005 [GRCh38]
Chr15:89836236 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3666G>C (p.Gln1222His) |
single nucleotide variant |
POLG-related disorder [RCV003985869]|not provided [RCV002251664] |
Chr15:89316805 [GRCh38]
Chr15:89860036 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1617G>A (p.Gly539=) |
single nucleotide variant |
Fanconi anemia [RCV002257255] |
Chr15:89283169 [GRCh38]
Chr15:89826400 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1134T>C (p.Val378=) |
single nucleotide variant |
Fanconi anemia [RCV002258574] |
Chr15:89276732 [GRCh38]
Chr15:89819963 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.976-6C>T |
single nucleotide variant |
Fanconi anemia [RCV002258578] |
Chr15:89274162 [GRCh38]
Chr15:89817393 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.625G>C (p.Glu209Gln) |
single nucleotide variant |
Fanconi anemia [RCV002255939]|Fanconi anemia complementation group I [RCV005008498] |
Chr15:89263982 [GRCh38]
Chr15:89807213 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3059-11C>T |
single nucleotide variant |
Fanconi anemia [RCV002257257] |
Chr15:89305104 [GRCh38]
Chr15:89848335 [GRCh37]
Chr15:15q26.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs) |
deletion |
Fanconi anemia [RCV003523124]|Fanconi anemia complementation group I [RCV003464429]|not provided [RCV002278886] |
Chr15:89314690..89314693 [GRCh38]
Chr15:89857921..89857924 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1321T>A (p.Leu441Met) |
single nucleotide variant |
Fanconi anemia [RCV002297621] |
Chr15:89278714 [GRCh38]
Chr15:89821945 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2752G>A (p.Ala918Thr) |
single nucleotide variant |
Fanconi anemia [RCV002771385] |
Chr15:89299915 [GRCh38]
Chr15:89843146 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.756-134T>G |
single nucleotide variant |
not provided [RCV002469886] |
Chr15:89268265 [GRCh38]
Chr15:89811496 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.756-248A>G |
single nucleotide variant |
not provided [RCV002469757] |
Chr15:89268151 [GRCh38]
Chr15:89811382 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.553C>T (p.Pro185Ser) |
single nucleotide variant |
Fanconi anemia [RCV002968136] |
Chr15:89263910 [GRCh38]
Chr15:89807141 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3007-18G>A |
single nucleotide variant |
Fanconi anemia [RCV002750332] |
Chr15:89303846 [GRCh38]
Chr15:89847077 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3036G>T (p.Lys1012Asn) |
single nucleotide variant |
Fanconi anemia [RCV002303779] |
Chr15:89303893 [GRCh38]
Chr15:89847124 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3147G>T (p.Leu1049Phe) |
single nucleotide variant |
Fanconi anemia [RCV002299275] |
Chr15:89305203 [GRCh38]
Chr15:89848434 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2299A>G (p.Arg767Gly) |
single nucleotide variant |
Fanconi anemia [RCV002295090] |
Chr15:89293840 [GRCh38]
Chr15:89837071 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2484C>G (p.Ser828Arg) |
single nucleotide variant |
Fanconi anemia [RCV002301426] |
Chr15:89294942 [GRCh38]
Chr15:89838173 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1064C>G (p.Pro355Arg) |
single nucleotide variant |
Fanconi anemia [RCV002302154] |
Chr15:89274256 [GRCh38]
Chr15:89817487 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3403A>T (p.Ile1135Phe) |
single nucleotide variant |
Fanconi anemia [RCV002296275] |
Chr15:89306060 [GRCh38]
Chr15:89849291 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.883-9C>G |
single nucleotide variant |
Fanconi anemia [RCV002904931] |
Chr15:89273368 [GRCh38]
Chr15:89816599 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3059-18T>C |
single nucleotide variant |
Fanconi anemia [RCV002968112] |
Chr15:89305097 [GRCh38]
Chr15:89848328 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.976-9A>T |
single nucleotide variant |
Fanconi anemia [RCV002616563] |
Chr15:89274159 [GRCh38]
Chr15:89817390 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.503+6T>G |
single nucleotide variant |
Fanconi anemia [RCV002616568] |
Chr15:89261884 [GRCh38]
Chr15:89805115 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2797G>A (p.Ala933Thr) |
single nucleotide variant |
Fanconi anemia [RCV002971131] |
Chr15:89299960 [GRCh38]
Chr15:89843191 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3276C>T (p.Ala1092=) |
single nucleotide variant |
Fanconi anemia [RCV002616835] |
Chr15:89305625 [GRCh38]
Chr15:89848856 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2874G>C (p.Gln958His) |
single nucleotide variant |
Fanconi anemia [RCV002685516] |
Chr15:89300370 [GRCh38]
Chr15:89843601 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1675A>C (p.Ser559Arg) |
single nucleotide variant |
Fanconi anemia [RCV002948232] |
Chr15:89283227 [GRCh38]
Chr15:89826458 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.70C>T (p.Leu24=) |
single nucleotide variant |
Fanconi anemia [RCV002843857] |
Chr15:89247717 [GRCh38]
Chr15:89790948 [GRCh37]
Chr15:15q26.1 |
likely benign |
| GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 |
copy number gain |
not provided [RCV002475797] |
Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.2111A>T (p.Asp704Val) |
single nucleotide variant |
Fanconi anemia [RCV003034450] |
Chr15:89292806 [GRCh38]
Chr15:89836037 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3696A>G (p.Lys1232=) |
single nucleotide variant |
Fanconi anemia [RCV002756115] |
Chr15:89312948 [GRCh38]
Chr15:89856179 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2352T>A (p.Ile784=) |
single nucleotide variant |
Fanconi anemia [RCV002776197] |
Chr15:89293893 [GRCh38]
Chr15:89837124 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3186+10T>C |
single nucleotide variant |
Fanconi anemia [RCV002974995] |
Chr15:89305252 [GRCh38]
Chr15:89848483 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2803+8T>C |
single nucleotide variant |
Fanconi anemia [RCV002617398] |
Chr15:89299974 [GRCh38]
Chr15:89843205 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3006+4C>G |
single nucleotide variant |
Fanconi anemia [RCV002904876] |
Chr15:89301446 [GRCh38]
Chr15:89844677 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1664C>A (p.Ser555Tyr) |
single nucleotide variant |
Fanconi anemia [RCV002751195] |
Chr15:89283216 [GRCh38]
Chr15:89826447 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.603G>A (p.Met201Ile) |
single nucleotide variant |
Fanconi anemia [RCV002780017] |
Chr15:89263960 [GRCh38]
Chr15:89807191 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.765T>A (p.Asp255Glu) |
single nucleotide variant |
Fanconi anemia [RCV002614475] |
Chr15:89268408 [GRCh38]
Chr15:89811639 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1294-20A>T |
single nucleotide variant |
Fanconi anemia [RCV003073803] |
Chr15:89278667 [GRCh38]
Chr15:89821898 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1584-13A>G |
single nucleotide variant |
Fanconi anemia [RCV002615117] |
Chr15:89283123 [GRCh38]
Chr15:89826354 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3560C>A (p.Ser1187Tyr) |
single nucleotide variant |
Fanconi anemia [RCV002971853] |
Chr15:89307498 [GRCh38]
Chr15:89850729 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1162A>G (p.Ile388Val) |
single nucleotide variant |
Fanconi anemia [RCV002616586] |
Chr15:89276760 [GRCh38]
Chr15:89819991 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3652-1G>T |
single nucleotide variant |
Fanconi anemia [RCV003095721] |
Chr15:89312903 [GRCh38]
Chr15:89856134 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.504-2A>G |
single nucleotide variant |
Fanconi anemia [RCV002882066] |
Chr15:89263417 [GRCh38]
Chr15:89806648 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2394C>A (p.Asn798Lys) |
single nucleotide variant |
Fanconi anemia [RCV002995978]|Fanconi anemia complementation group I [RCV005002922] |
Chr15:89293935 [GRCh38]
Chr15:89837166 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.158-15G>C |
single nucleotide variant |
Fanconi anemia [RCV003097466] |
Chr15:89260698 [GRCh38]
Chr15:89803929 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg) |
single nucleotide variant |
Fanconi anemia [RCV002775467] |
Chr15:89247700 [GRCh38]
Chr15:89790931 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1841G>A (p.Arg614Gln) |
single nucleotide variant |
Fanconi anemia [RCV002907856] |
Chr15:89290232 [GRCh38]
Chr15:89833463 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2306A>C (p.Glu769Ala) |
single nucleotide variant |
Fanconi anemia [RCV002882091] |
Chr15:89293847 [GRCh38]
Chr15:89837078 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3147G>A (p.Leu1049=) |
single nucleotide variant |
Fanconi anemia [RCV002842454] |
Chr15:89305203 [GRCh38]
Chr15:89848434 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1513-17C>T |
single nucleotide variant |
Fanconi anemia [RCV002685526] |
Chr15:89281748 [GRCh38]
Chr15:89824979 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2746T>C (p.Phe916Leu) |
single nucleotide variant |
Fanconi anemia [RCV002903641] |
Chr15:89299909 [GRCh38]
Chr15:89843140 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2636+12C>G |
single nucleotide variant |
Fanconi anemia [RCV003033479] |
Chr15:89295106 [GRCh38]
Chr15:89838337 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2592C>A (p.Gly864=) |
single nucleotide variant |
Fanconi anemia [RCV002948000] |
Chr15:89295050 [GRCh38]
Chr15:89838281 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3715C>A (p.Pro1239Thr) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002571607]|not provided [RCV002511343] |
Chr15:89316756 [GRCh38]
Chr15:89859987 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1293+8A>G |
single nucleotide variant |
Fanconi anemia [RCV002775460] |
Chr15:89276899 [GRCh38]
Chr15:89820130 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2169+15C>T |
single nucleotide variant |
Fanconi anemia [RCV003076436] |
Chr15:89292879 [GRCh38]
Chr15:89836110 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.756-7C>A |
single nucleotide variant |
Fanconi anemia [RCV002592071] |
Chr15:89268392 [GRCh38]
Chr15:89811623 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2307G>A (p.Glu769=) |
single nucleotide variant |
Fanconi anemia [RCV002953544] |
Chr15:89293848 [GRCh38]
Chr15:89837079 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1637A>G (p.Asn546Ser) |
single nucleotide variant |
Fanconi anemia [RCV002979904] |
Chr15:89283189 [GRCh38]
Chr15:89826420 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3237G>T (p.Thr1079=) |
single nucleotide variant |
Fanconi anemia [RCV002740312] |
Chr15:89305391 [GRCh38]
Chr15:89848622 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.317T>A (p.Val106Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002757347] |
Chr15:89261613 [GRCh38]
Chr15:89804844 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1909C>T (p.Pro637Ser) |
single nucleotide variant |
Fanconi anemia [RCV002623227] |
Chr15:89291631 [GRCh38]
Chr15:89834862 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter) |
single nucleotide variant |
Fanconi anemia [RCV002846971] |
Chr15:89276777 [GRCh38]
Chr15:89820008 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.158-5A>G |
single nucleotide variant |
Fanconi anemia [RCV003081170] |
Chr15:89260708 [GRCh38]
Chr15:89803939 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1512+12G>A |
single nucleotide variant |
Fanconi anemia [RCV002886291] |
Chr15:89281312 [GRCh38]
Chr15:89824543 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter) |
single nucleotide variant |
Fanconi anemia [RCV002953467]|Fanconi anemia complementation group I [RCV003465873] |
Chr15:89305240 [GRCh38]
Chr15:89848471 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.207C>T (p.Tyr69=) |
single nucleotide variant |
Fanconi anemia [RCV003081712] |
Chr15:89260762 [GRCh38]
Chr15:89803993 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1890+9C>T |
single nucleotide variant |
Fanconi anemia [RCV002800496] |
Chr15:89290290 [GRCh38]
Chr15:89833521 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.838A>G (p.Lys280Glu) |
single nucleotide variant |
Fanconi anemia [RCV002572183] |
Chr15:89268481 [GRCh38]
Chr15:89811712 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2473C>T (p.His825Tyr) |
single nucleotide variant |
Fanconi anemia [RCV002640583] |
Chr15:89294931 [GRCh38]
Chr15:89838162 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1471C>T (p.Leu491=) |
single nucleotide variant |
Fanconi anemia [RCV003001892] |
Chr15:89281259 [GRCh38]
Chr15:89824490 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1218C>T (p.Thr406=) |
single nucleotide variant |
Fanconi anemia [RCV002949736] |
Chr15:89276816 [GRCh38]
Chr15:89820047 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2803+19A>G |
single nucleotide variant |
Fanconi anemia [RCV002912981]|Fanconi anemia complementation group I [RCV005010768] |
Chr15:89299985 [GRCh38]
Chr15:89843216 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2520C>T (p.Arg840=) |
single nucleotide variant |
Fanconi anemia [RCV002620943] |
Chr15:89294978 [GRCh38]
Chr15:89838209 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3256-19A>G |
single nucleotide variant |
Fanconi anemia [RCV002620974] |
Chr15:89305586 [GRCh38]
Chr15:89848817 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2681A>G (p.Glu894Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002783480] |
Chr15:89299844 [GRCh38]
Chr15:89843075 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2019T>C (p.His673=) |
single nucleotide variant |
Fanconi anemia [RCV003078568] |
Chr15:89292714 [GRCh38]
Chr15:89835945 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3816+16T>C |
single nucleotide variant |
Fanconi anemia [RCV002570060] |
Chr15:89314723 [GRCh38]
Chr15:89857954 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1890+8A>G |
single nucleotide variant |
Fanconi anemia [RCV002620407] |
Chr15:89290289 [GRCh38]
Chr15:89833520 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter) |
single nucleotide variant |
FANCI-related disorder [RCV003403931]|Fanconi anemia [RCV002846205] |
Chr15:89274243 [GRCh38]
Chr15:89817474 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.2290A>C (p.Ser764Arg) |
single nucleotide variant |
Fanconi anemia [RCV002824075] |
Chr15:89293062 [GRCh38]
Chr15:89836293 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1721A>G (p.His574Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002925507] |
Chr15:89285118 [GRCh38]
Chr15:89828349 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3411A>T (p.Gln1137His) |
single nucleotide variant |
Fanconi anemia [RCV002636966] |
Chr15:89306068 [GRCh38]
Chr15:89849299 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.477G>T (p.Gln159His) |
single nucleotide variant |
Fanconi anemia [RCV002820887] |
Chr15:89261852 [GRCh38]
Chr15:89805083 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1583+19T>G |
single nucleotide variant |
Fanconi anemia [RCV002866505] |
Chr15:89281854 [GRCh38]
Chr15:89825085 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-19C>G |
single nucleotide variant |
Fanconi anemia [RCV002949373] |
Chr15:89258685 [GRCh38]
Chr15:89801916 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2637-5T>C |
single nucleotide variant |
Fanconi anemia [RCV002780965] |
Chr15:89299795 [GRCh38]
Chr15:89843026 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3650C>G (p.Ala1217Gly) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002736842] |
Chr15:89316821 [GRCh38]
Chr15:89860052 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3925-7del |
deletion |
Fanconi anemia [RCV002847366] |
Chr15:89316387 [GRCh38]
Chr15:89859618 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.106C>G (p.Gln36Glu) |
single nucleotide variant |
Fanconi anemia [RCV003019279] |
Chr15:89258725 [GRCh38]
Chr15:89801956 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3246C>T (p.Pro1082=) |
single nucleotide variant |
Fanconi anemia [RCV002638312] |
Chr15:89305400 [GRCh38]
Chr15:89848631 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-4C>T |
single nucleotide variant |
Fanconi anemia [RCV002998693] |
Chr15:89294911 [GRCh38]
Chr15:89838142 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3621C>A (p.Pro1207=) |
single nucleotide variant |
Fanconi anemia [RCV002781342] |
Chr15:89307642 [GRCh38]
Chr15:89850873 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3549G>C (p.Val1183=) |
single nucleotide variant |
Fanconi anemia [RCV002756873] |
Chr15:89307487 [GRCh38]
Chr15:89850718 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3924+1G>T |
single nucleotide variant |
Fanconi anemia [RCV003036427] |
Chr15:89315390 [GRCh38]
Chr15:89858621 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1147G>A (p.Val383Ile) |
single nucleotide variant |
Fanconi anemia [RCV002910024] |
Chr15:89276745 [GRCh38]
Chr15:89819976 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3667C>G (p.Leu1223Val) |
single nucleotide variant |
Fanconi anemia [RCV002620135] |
Chr15:89312919 [GRCh38]
Chr15:89856150 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1294-11G>A |
single nucleotide variant |
Fanconi anemia [RCV002913171] |
Chr15:89278676 [GRCh38]
Chr15:89821907 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3969G>A (p.Lys1323=) |
single nucleotide variant |
Fanconi anemia [RCV003077373] |
Chr15:89316441 [GRCh38]
Chr15:89859672 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1560C>T (p.Val520=) |
single nucleotide variant |
Fanconi anemia [RCV002592239] |
Chr15:89281812 [GRCh38]
Chr15:89825043 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2456+16A>G |
single nucleotide variant |
Fanconi anemia [RCV002785404] |
Chr15:89294013 [GRCh38]
Chr15:89837244 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2084A>C (p.Glu695Ala) |
single nucleotide variant |
Fanconi anemia [RCV002953326] |
Chr15:89292779 [GRCh38]
Chr15:89836010 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3925-11del |
deletion |
Fanconi anemia [RCV002619625] |
Chr15:89316384 [GRCh38]
Chr15:89859615 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2507A>T (p.Asn836Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002707264] |
Chr15:89294965 [GRCh38]
Chr15:89838196 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2972G>C (p.Ser991Thr) |
single nucleotide variant |
Fanconi anemia [RCV002952966] |
Chr15:89301408 [GRCh38]
Chr15:89844639 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.755+20A>T |
single nucleotide variant |
Fanconi anemia [RCV002885609] |
Chr15:89264627 [GRCh38]
Chr15:89807858 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2288T>A (p.Phe763Tyr) |
single nucleotide variant |
Fanconi anemia [RCV002926937] |
Chr15:89293060 [GRCh38]
Chr15:89836291 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3720+20C>G |
single nucleotide variant |
Fanconi anemia [RCV002620362] |
Chr15:89312992 [GRCh38]
Chr15:89856223 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2280A>G (p.Ile760Met) |
single nucleotide variant |
Fanconi anemia [RCV002824633] |
Chr15:89293052 [GRCh38]
Chr15:89836283 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.85-2A>G |
single nucleotide variant |
Fanconi anemia [RCV002889276] |
Chr15:89258702 [GRCh38]
Chr15:89801933 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.756-15T>C |
single nucleotide variant |
Fanconi anemia [RCV002848002] |
Chr15:89268384 [GRCh38]
Chr15:89811615 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs) |
deletion |
Fanconi anemia [RCV002927331] |
Chr15:89293952..89293953 [GRCh38]
Chr15:89837183..89837184 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2665C>T (p.Pro889Ser) |
single nucleotide variant |
Fanconi anemia [RCV002591586]|Fanconi anemia complementation group I [RCV005002956] |
Chr15:89299828 [GRCh38]
Chr15:89843059 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1541G>A (p.Arg514Lys) |
single nucleotide variant |
Fanconi anemia [RCV002592040] |
Chr15:89281793 [GRCh38]
Chr15:89825024 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3007-3T>A |
single nucleotide variant |
Fanconi anemia [RCV002705329] |
Chr15:89303861 [GRCh38]
Chr15:89847092 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3125C>G (p.Pro1042Arg) |
single nucleotide variant |
Fanconi anemia [RCV003080971] |
Chr15:89305181 [GRCh38]
Chr15:89848412 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2677G>A (p.Glu893Lys) |
single nucleotide variant |
Fanconi anemia [RCV002639425] |
Chr15:89299840 [GRCh38]
Chr15:89843071 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2822_2824del (p.Gly941del) |
deletion |
Fanconi anemia [RCV002913921]|Fanconi anemia complementation group I [RCV005010775] |
Chr15:89300316..89300318 [GRCh38]
Chr15:89843547..89843549 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.163C>T (p.Pro55Ser) |
single nucleotide variant |
Fanconi anemia [RCV002592125]|Inborn genetic diseases [RCV004978658] |
Chr15:89260718 [GRCh38]
Chr15:89803949 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.258G>T (p.Ala86=) |
single nucleotide variant |
Fanconi anemia [RCV002998956] |
Chr15:89260813 [GRCh38]
Chr15:89804044 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.473A>T (p.Lys158Ile) |
single nucleotide variant |
Fanconi anemia [RCV002999536] |
Chr15:89261848 [GRCh38]
Chr15:89805079 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2457-272dup |
duplication |
not provided [RCV002510090] |
Chr15:89294634..89294635 [GRCh38]
Chr15:89837865..89837866 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3721-16T>C |
single nucleotide variant |
Fanconi anemia [RCV002761207] |
Chr15:89314596 [GRCh38]
Chr15:89857827 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1767T>C (p.Asp589=) |
single nucleotide variant |
Fanconi anemia [RCV002706567] |
Chr15:89285164 [GRCh38]
Chr15:89828395 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.756-8T>C |
single nucleotide variant |
Fanconi anemia [RCV002952991] |
Chr15:89268391 [GRCh38]
Chr15:89811622 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.208A>G (p.Thr70Ala) |
single nucleotide variant |
Fanconi anemia [RCV002572382] |
Chr15:89260763 [GRCh38]
Chr15:89803994 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2291+20C>A |
single nucleotide variant |
Fanconi anemia [RCV002932039] |
Chr15:89293083 [GRCh38]
Chr15:89836314 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.568G>C (p.Glu190Gln) |
single nucleotide variant |
Fanconi anemia [RCV002596139] |
Chr15:89263925 [GRCh38]
Chr15:89807156 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2292-3C>T |
single nucleotide variant |
Fanconi anemia [RCV002917651] |
Chr15:89293830 [GRCh38]
Chr15:89837061 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3651+18A>C |
single nucleotide variant |
Fanconi anemia [RCV003043452] |
Chr15:89307690 [GRCh38]
Chr15:89850921 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.288+19del |
deletion |
Fanconi anemia [RCV003084761] |
Chr15:89260858 [GRCh38]
Chr15:89804089 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3054C>G (p.Ser1018Arg) |
single nucleotide variant |
Fanconi anemia [RCV002805833]|Fanconi anemia complementation group I [RCV005002888] |
Chr15:89303911 [GRCh38]
Chr15:89847142 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2170-9_2170-8del |
microsatellite |
Fanconi anemia [RCV002958931] |
Chr15:89292930..89292931 [GRCh38]
Chr15:89836161..89836162 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1053G>T (p.Gln351His) |
single nucleotide variant |
Fanconi anemia [RCV002790656] |
Chr15:89274245 [GRCh38]
Chr15:89817476 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2553G>A (p.Gln851=) |
single nucleotide variant |
Fanconi anemia [RCV002640723] |
Chr15:89295011 [GRCh38]
Chr15:89838242 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3495C>G (p.Asp1165Glu) |
single nucleotide variant |
Fanconi anemia [RCV003043329] |
Chr15:89306152 [GRCh38]
Chr15:89849383 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3058G>A (p.Glu1020Lys) |
single nucleotide variant |
Fanconi anemia [RCV003040450] |
Chr15:89303915 [GRCh38]
Chr15:89847146 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3533G>C (p.Arg1178Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002931036] |
Chr15:89306190 [GRCh38]
Chr15:89849421 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2518C>T (p.Arg840Cys) |
single nucleotide variant |
Fanconi anemia [RCV002741162] |
Chr15:89294976 [GRCh38]
Chr15:89838207 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter) |
single nucleotide variant |
Fanconi anemia [RCV003082977]|Fanconi anemia complementation group I [RCV003459747] |
Chr15:89294925 [GRCh38]
Chr15:89838156 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1352G>C (p.Arg451Thr) |
single nucleotide variant |
Fanconi anemia [RCV002710551] |
Chr15:89278745 [GRCh38]
Chr15:89821976 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2745_2747del (p.Phe916del) |
deletion |
Fanconi anemia [RCV002852672] |
Chr15:89299907..89299909 [GRCh38]
Chr15:89843138..89843140 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1118A>G (p.His373Arg) |
single nucleotide variant |
Fanconi anemia [RCV002710267] |
Chr15:89276716 [GRCh38]
Chr15:89819947 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.756-6T>C |
single nucleotide variant |
Fanconi anemia [RCV002931946] |
Chr15:89268393 [GRCh38]
Chr15:89811624 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2074G>A (p.Glu692Lys) |
single nucleotide variant |
Fanconi anemia [RCV002663343] |
Chr15:89292769 [GRCh38]
Chr15:89836000 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3538-6T>A |
single nucleotide variant |
Fanconi anemia [RCV002572349] |
Chr15:89307470 [GRCh38]
Chr15:89850701 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.755+13G>A |
single nucleotide variant |
Fanconi anemia [RCV002914640] |
Chr15:89264620 [GRCh38]
Chr15:89807851 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.565G>C (p.Glu189Gln) |
single nucleotide variant |
Fanconi anemia [RCV002928296] |
Chr15:89263922 [GRCh38]
Chr15:89807153 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3371C>G (p.Thr1124Ser) |
single nucleotide variant |
Fanconi anemia [RCV002623428] |
Chr15:89306028 [GRCh38]
Chr15:89849259 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3644-20C>T |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002983135] |
Chr15:89316847 [GRCh38]
Chr15:89860078 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-16T>G |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002917558] |
Chr15:89316843 [GRCh38]
Chr15:89860074 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3592-14C>T |
single nucleotide variant |
Fanconi anemia [RCV002830193] |
Chr15:89307599 [GRCh38]
Chr15:89850830 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3255+10G>A |
single nucleotide variant |
Fanconi anemia [RCV002928945] |
Chr15:89305419 [GRCh38]
Chr15:89848650 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3676A>T (p.Thr1226Ser) |
single nucleotide variant |
Fanconi anemia [RCV002932109] |
Chr15:89312928 [GRCh38]
Chr15:89856159 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.690G>A (p.Leu230=) |
single nucleotide variant |
Fanconi anemia [RCV002928737] |
Chr15:89264542 [GRCh38]
Chr15:89807773 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-4C>A |
single nucleotide variant |
Fanconi anemia [RCV002918243] |
Chr15:89294911 [GRCh38]
Chr15:89838142 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.546-4A>G |
single nucleotide variant |
Fanconi anemia [RCV002791177] |
Chr15:89263899 [GRCh38]
Chr15:89807130 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.509del (p.Asp170fs) |
deletion |
Fanconi anemia [RCV002790649] |
Chr15:89263424 [GRCh38]
Chr15:89806655 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2255T>G (p.Val752Gly) |
single nucleotide variant |
Fanconi anemia [RCV002801825] |
Chr15:89293027 [GRCh38]
Chr15:89836258 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2457-7T>C |
single nucleotide variant |
Fanconi anemia [RCV003083535] |
Chr15:89294908 [GRCh38]
Chr15:89838139 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-20C>T |
single nucleotide variant |
Fanconi anemia [RCV002928426] |
Chr15:89294895 [GRCh38]
Chr15:89838126 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1754T>G (p.Leu585Arg) |
single nucleotide variant |
Fanconi anemia [RCV002595614] |
Chr15:89285151 [GRCh38]
Chr15:89828382 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.158-20C>T |
single nucleotide variant |
Fanconi anemia [RCV003085490] |
Chr15:89260693 [GRCh38]
Chr15:89803924 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.555T>C (p.Pro185=) |
single nucleotide variant |
Fanconi anemia [RCV002663956] |
Chr15:89263912 [GRCh38]
Chr15:89807143 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2670T>C (p.Thr890=) |
single nucleotide variant |
Fanconi anemia [RCV002985557] |
Chr15:89299833 [GRCh38]
Chr15:89843064 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1761C>T (p.Ile587=) |
single nucleotide variant |
Fanconi anemia [RCV003025119] |
Chr15:89285158 [GRCh38]
Chr15:89828389 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2303T>A (p.Phe768Tyr) |
single nucleotide variant |
Fanconi anemia [RCV002573097]|Fanconi anemia complementation group I [RCV005008627] |
Chr15:89293844 [GRCh38]
Chr15:89837075 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.506G>T (p.Trp169Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002787326] |
Chr15:89263421 [GRCh38]
Chr15:89806652 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3531C>A (p.Val1177=) |
single nucleotide variant |
Fanconi anemia [RCV002893913] |
Chr15:89306188 [GRCh38]
Chr15:89849419 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1675A>G (p.Ser559Gly) |
single nucleotide variant |
Fanconi anemia [RCV002644365] |
Chr15:89283227 [GRCh38]
Chr15:89826458 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1314A>T (p.Gln438His) |
single nucleotide variant |
Fanconi anemia [RCV003085139] |
Chr15:89278707 [GRCh38]
Chr15:89821938 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1077T>C (p.Tyr359=) |
single nucleotide variant |
Fanconi anemia [RCV002915057] |
Chr15:89274269 [GRCh38]
Chr15:89817500 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.882+2T>C |
single nucleotide variant |
Fanconi anemia [RCV002666703] |
Chr15:89268527 [GRCh38]
Chr15:89811758 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3594G>C (p.Val1198=) |
single nucleotide variant |
Fanconi anemia [RCV002624388] |
Chr15:89307615 [GRCh38]
Chr15:89850846 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.754G>C (p.Glu252Gln) |
single nucleotide variant |
Fanconi anemia [RCV003082976] |
Chr15:89264606 [GRCh38]
Chr15:89807837 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3985_*2dup (p.Ter1329=) |
duplication |
Fanconi anemia [RCV003062806] |
Chr15:89316456..89316457 [GRCh38]
Chr15:89859687..89859688 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3193G>A (p.Glu1065Lys) |
single nucleotide variant |
Fanconi anemia [RCV002581922]|Inborn genetic diseases [RCV004978613] |
Chr15:89305347 [GRCh38]
Chr15:89848578 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.2083G>A (p.Glu695Lys) |
single nucleotide variant |
Fanconi anemia [RCV003092094] |
Chr15:89292778 [GRCh38]
Chr15:89836009 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2636+18C>T |
single nucleotide variant |
Fanconi anemia [RCV003065356] |
Chr15:89295112 [GRCh38]
Chr15:89838343 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.93T>C (p.Asn31=) |
single nucleotide variant |
Fanconi anemia [RCV003030106] |
Chr15:89258712 [GRCh38]
Chr15:89801943 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-12G>C |
single nucleotide variant |
Fanconi anemia [RCV002579133] |
Chr15:89294903 [GRCh38]
Chr15:89838134 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2789T>G (p.Phe930Cys) |
single nucleotide variant |
Fanconi anemia [RCV002651709] |
Chr15:89299952 [GRCh38]
Chr15:89843183 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2985A>G (p.Leu995=) |
single nucleotide variant |
Fanconi anemia [RCV002675651] |
Chr15:89301421 [GRCh38]
Chr15:89844652 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter) |
single nucleotide variant |
Fanconi anemia [RCV002633065]|Fanconi anemia complementation group I [RCV003465984] |
Chr15:89295093 [GRCh38]
Chr15:89838324 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.345T>C (p.Ala115=) |
single nucleotide variant |
Fanconi anemia [RCV002601226] |
Chr15:89261641 [GRCh38]
Chr15:89804872 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2261T>C (p.Ile754Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002812218] |
Chr15:89293033 [GRCh38]
Chr15:89836264 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3242C>T (p.Ala1081Val) |
single nucleotide variant |
Fanconi anemia [RCV002720810] |
Chr15:89305396 [GRCh38]
Chr15:89848627 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Fanconi anemia [RCV002810484] |
Chr15:89247649 [GRCh38]
Chr15:89790880 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser) |
single nucleotide variant |
Fanconi anemia [RCV003087577] |
Chr15:89247715 [GRCh38]
Chr15:89790946 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2327T>G (p.Met776Arg) |
single nucleotide variant |
Fanconi anemia [RCV002834297] |
Chr15:89293868 [GRCh38]
Chr15:89837099 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1863T>A (p.Asn621Lys) |
single nucleotide variant |
Fanconi anemia [RCV002962541] |
Chr15:89290254 [GRCh38]
Chr15:89833485 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2804-9C>T |
single nucleotide variant |
Fanconi anemia [RCV002717208] |
Chr15:89300291 [GRCh38]
Chr15:89843522 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003448484]|Inborn genetic diseases [RCV002809917] |
Chr15:89276838 [GRCh38]
Chr15:89820069 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1699-7del |
deletion |
Fanconi anemia [RCV002647656] |
Chr15:89285088 [GRCh38]
Chr15:89828319 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3669G>C (p.Leu1223=) |
single nucleotide variant |
Fanconi anemia [RCV003088470] |
Chr15:89312921 [GRCh38]
Chr15:89856152 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1112+16A>G |
single nucleotide variant |
Fanconi anemia [RCV002600585] |
Chr15:89274320 [GRCh38]
Chr15:89817551 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.234G>A (p.Ser78=) |
single nucleotide variant |
Fanconi anemia [RCV002579387] |
Chr15:89260789 [GRCh38]
Chr15:89804020 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1891-10C>T |
single nucleotide variant |
Fanconi anemia [RCV002937536] |
Chr15:89291603 [GRCh38]
Chr15:89834834 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2497A>G (p.Arg833Gly) |
single nucleotide variant |
Fanconi anemia [RCV002937257] |
Chr15:89294955 [GRCh38]
Chr15:89838186 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.205T>C (p.Tyr69His) |
single nucleotide variant |
Fanconi anemia [RCV003087765]|Fanconi anemia complementation group I [RCV005002949]|Inborn genetic diseases [RCV004617188] |
Chr15:89260760 [GRCh38]
Chr15:89803991 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2660C>T (p.Ser887Leu) |
single nucleotide variant |
Fanconi anemia [RCV002598642] |
Chr15:89299823 [GRCh38]
Chr15:89843054 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2564A>G (p.Glu855Gly) |
single nucleotide variant |
Fanconi anemia [RCV002629384]|Inborn genetic diseases [RCV003250818] |
Chr15:89295022 [GRCh38]
Chr15:89838253 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3460C>T (p.Pro1154Ser) |
single nucleotide variant |
Fanconi anemia [RCV002716226] |
Chr15:89306117 [GRCh38]
Chr15:89849348 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.587A>C (p.Glu196Ala) |
single nucleotide variant |
Fanconi anemia [RCV002630744] |
Chr15:89263944 [GRCh38]
Chr15:89807175 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.153C>G (p.Phe51Leu) |
single nucleotide variant |
Fanconi anemia [RCV002647868] |
Chr15:89258772 [GRCh38]
Chr15:89802003 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.882+6A>G |
single nucleotide variant |
Fanconi anemia [RCV002900095] |
Chr15:89268531 [GRCh38]
Chr15:89811762 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.280A>G (p.Met94Val) |
single nucleotide variant |
Fanconi anemia [RCV002627829]|Fanconi anemia complementation group I [RCV005011043] |
Chr15:89260835 [GRCh38]
Chr15:89804066 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs) |
duplication |
Fanconi anemia [RCV002715758] |
Chr15:89306176..89306177 [GRCh38]
Chr15:89849407..89849408 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.289-18T>C |
single nucleotide variant |
Fanconi anemia [RCV002899478] |
Chr15:89261567 [GRCh38]
Chr15:89804798 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3392A>G (p.Glu1131Gly) |
single nucleotide variant |
Fanconi anemia [RCV002628379] |
Chr15:89306049 [GRCh38]
Chr15:89849280 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.84+13A>C |
single nucleotide variant |
Fanconi anemia [RCV003011437] |
Chr15:89247744 [GRCh38]
Chr15:89790975 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3611A>T (p.His1204Leu) |
single nucleotide variant |
Fanconi anemia [RCV002602453] |
Chr15:89307632 [GRCh38]
Chr15:89850863 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3648A>C (p.Glu1216Asp) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003062884] |
Chr15:89316823 [GRCh38]
Chr15:89860054 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3396A>G (p.Lys1132=) |
single nucleotide variant |
Fanconi anemia [RCV003090770] |
Chr15:89306053 [GRCh38]
Chr15:89849284 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3756C>T (p.Asn1252=) |
single nucleotide variant |
Fanconi anemia [RCV002601684] |
Chr15:89314647 [GRCh38]
Chr15:89857878 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2697G>T (p.Glu899Asp) |
single nucleotide variant |
Fanconi anemia [RCV002791820] |
Chr15:89299860 [GRCh38]
Chr15:89843091 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2236G>A (p.Val746Met) |
single nucleotide variant |
Fanconi anemia [RCV003090906] |
Chr15:89293008 [GRCh38]
Chr15:89836239 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly) |
single nucleotide variant |
Fanconi anemia [RCV002650827] |
Chr15:89247679 [GRCh38]
Chr15:89790910 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3256-8_3256-4del |
microsatellite |
Fanconi anemia [RCV002672199] |
Chr15:89305592..89305596 [GRCh38]
Chr15:89848823..89848827 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3836T>C (p.Met1279Thr) |
single nucleotide variant |
Fanconi anemia [RCV003027122] |
Chr15:89315301 [GRCh38]
Chr15:89858532 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1761C>G (p.Ile587Met) |
single nucleotide variant |
Fanconi anemia [RCV002650949] |
Chr15:89285158 [GRCh38]
Chr15:89828389 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2357A>T (p.Asn786Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002989125] |
Chr15:89293898 [GRCh38]
Chr15:89837129 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3984dup (p.Ter1329IleextTer?) |
duplication |
Fanconi anemia [RCV002598779] |
Chr15:89316450..89316451 [GRCh38]
Chr15:89859681..89859682 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3939G>A (p.Glu1313=) |
single nucleotide variant |
Fanconi anemia [RCV002599468] |
Chr15:89316411 [GRCh38]
Chr15:89859642 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.8A>G (p.Gln3Arg) |
single nucleotide variant |
Fanconi anemia [RCV002717206] |
Chr15:89247655 [GRCh38]
Chr15:89790886 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2048T>C (p.Ile683Thr) |
single nucleotide variant |
Fanconi anemia [RCV002649506] |
Chr15:89292743 [GRCh38]
Chr15:89835974 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.548A>T (p.Asp183Val) |
single nucleotide variant |
Fanconi anemia [RCV003026842] |
Chr15:89263905 [GRCh38]
Chr15:89807136 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.946G>A (p.Val316Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003828]|Inborn genetic diseases [RCV004977678] |
Chr15:89273440 [GRCh38]
Chr15:89816671 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.805G>A (p.Gly269Ser) |
single nucleotide variant |
Fanconi anemia [RCV003068130]|Fanconi anemia complementation group I [RCV005002935] |
Chr15:89268448 [GRCh38]
Chr15:89811679 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.976-13A>C |
single nucleotide variant |
Fanconi anemia [RCV002942939] |
Chr15:89274155 [GRCh38]
Chr15:89817386 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.953G>T (p.Arg318Ile) |
single nucleotide variant |
Fanconi anemia [RCV003066170] |
Chr15:89273447 [GRCh38]
Chr15:89816678 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3717A>G (p.Pro1239=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV002605410] |
Chr15:89316754 [GRCh38]
Chr15:89859985 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3887T>C (p.Met1296Thr) |
single nucleotide variant |
Fanconi anemia [RCV002942344]|Fanconi anemia complementation group I [RCV005010798] |
Chr15:89315352 [GRCh38]
Chr15:89858583 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3006+13C>A |
single nucleotide variant |
Fanconi anemia [RCV002814482] |
Chr15:89301455 [GRCh38]
Chr15:89844686 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.202A>G (p.Ile68Val) |
single nucleotide variant |
Fanconi anemia [RCV002814888] |
Chr15:89260757 [GRCh38]
Chr15:89803988 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3355G>A (p.Ala1119Thr) |
single nucleotide variant |
Fanconi anemia [RCV003092545]|Fanconi anemia complementation group I [RCV005010990] |
Chr15:89306012 [GRCh38]
Chr15:89849243 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3370A>C (p.Thr1124Pro) |
single nucleotide variant |
Fanconi anemia [RCV002654919] |
Chr15:89306027 [GRCh38]
Chr15:89849258 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1512+12G>C |
single nucleotide variant |
Fanconi anemia [RCV003068682] |
Chr15:89281312 [GRCh38]
Chr15:89824543 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2711T>A (p.Ile904Asn) |
single nucleotide variant |
Fanconi anemia [RCV002725642] |
Chr15:89299874 [GRCh38]
Chr15:89843105 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.574G>C (p.Glu192Gln) |
single nucleotide variant |
Fanconi anemia [RCV002605894] |
Chr15:89263931 [GRCh38]
Chr15:89807162 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3578A>T (p.Asn1193Ile) |
single nucleotide variant |
Fanconi anemia [RCV003093329] |
Chr15:89307516 [GRCh38]
Chr15:89850747 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2292-20C>G |
single nucleotide variant |
Fanconi anemia [RCV002942624] |
Chr15:89293813 [GRCh38]
Chr15:89837044 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1987C>T (p.Pro663Ser) |
single nucleotide variant |
Fanconi anemia [RCV002584667] |
Chr15:89291709 [GRCh38]
Chr15:89834940 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2678A>C (p.Glu893Ala) |
single nucleotide variant |
Fanconi anemia [RCV003069352] |
Chr15:89299841 [GRCh38]
Chr15:89843072 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3220_3222del (p.Ile1074del) |
deletion |
Fanconi anemia [RCV003066841] |
Chr15:89305373..89305375 [GRCh38]
Chr15:89848604..89848606 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.632del (p.Pro211fs) |
deletion |
Fanconi anemia [RCV003068254] |
Chr15:89263988 [GRCh38]
Chr15:89807219 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1550T>G (p.Leu517Trp) |
single nucleotide variant |
Fanconi anemia [RCV003051598] |
Chr15:89281802 [GRCh38]
Chr15:89825033 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.288+19A>T |
single nucleotide variant |
Fanconi anemia [RCV003093135] |
Chr15:89260862 [GRCh38]
Chr15:89804093 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1992+3G>C |
single nucleotide variant |
Fanconi anemia [RCV002943034]|Fanconi anemia complementation group I [RCV005010812] |
Chr15:89291717 [GRCh38]
Chr15:89834948 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3776A>C (p.Gln1259Pro) |
single nucleotide variant |
Fanconi anemia [RCV003069243] |
Chr15:89314667 [GRCh38]
Chr15:89857898 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1345G>A (p.Val449Ile) |
single nucleotide variant |
Fanconi anemia [RCV002583200] |
Chr15:89278738 [GRCh38]
Chr15:89821969 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs) |
microsatellite |
Fanconi anemia [RCV002606720] |
Chr15:89300354..89300355 [GRCh38]
Chr15:89843585..89843586 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.791T>A (p.Leu264His) |
single nucleotide variant |
Fanconi anemia [RCV003070542] |
Chr15:89268434 [GRCh38]
Chr15:89811665 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2424A>G (p.Lys808=) |
single nucleotide variant |
Fanconi anemia [RCV003093362] |
Chr15:89293965 [GRCh38]
Chr15:89837196 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.92A>T (p.Asn31Ile) |
single nucleotide variant |
Fanconi anemia [RCV002610124] |
Chr15:89258711 [GRCh38]
Chr15:89801942 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3686G>C (p.Gly1229Ala) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003052638] |
Chr15:89316785 [GRCh38]
Chr15:89860016 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.106C>A (p.Gln36Lys) |
single nucleotide variant |
Fanconi anemia [RCV003073239] |
Chr15:89258725 [GRCh38]
Chr15:89801956 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.437A>G (p.Tyr146Cys) |
single nucleotide variant |
Fanconi anemia [RCV003072078]|Fanconi anemia complementation group I [RCV005002944] |
Chr15:89261733 [GRCh38]
Chr15:89804964 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3621C>G (p.Pro1207=) |
single nucleotide variant |
Fanconi anemia [RCV002585441] |
Chr15:89307642 [GRCh38]
Chr15:89850873 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.542_545+57del |
deletion |
Fanconi anemia [RCV002942756] |
Chr15:89263457..89263517 [GRCh38]
Chr15:89806688..89806748 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1708G>A (p.Asp570Asn) |
single nucleotide variant |
Fanconi anemia [RCV002607091] |
Chr15:89285105 [GRCh38]
Chr15:89828336 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.466T>C (p.Cys156Arg) |
single nucleotide variant |
Fanconi anemia [RCV002607160] |
Chr15:89261841 [GRCh38]
Chr15:89805072 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2637-12C>A |
single nucleotide variant |
Fanconi anemia [RCV002583563] |
Chr15:89299788 [GRCh38]
Chr15:89843019 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2343C>T (p.Leu781=) |
single nucleotide variant |
Fanconi anemia [RCV002633715] |
Chr15:89293884 [GRCh38]
Chr15:89837115 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.350G>C (p.Arg117Thr) |
single nucleotide variant |
Fanconi anemia [RCV002588698] |
Chr15:89261646 [GRCh38]
Chr15:89804877 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2782C>G (p.Gln928Glu) |
single nucleotide variant |
Fanconi anemia [RCV003071854] |
Chr15:89299945 [GRCh38]
Chr15:89843176 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.883-13T>C |
single nucleotide variant |
Fanconi anemia [RCV002611507] |
Chr15:89273364 [GRCh38]
Chr15:89816595 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3532A>G (p.Arg1178Gly) |
single nucleotide variant |
Fanconi anemia [RCV002944052]|Fanconi anemia complementation group I [RCV005010837] |
Chr15:89306189 [GRCh38]
Chr15:89849420 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2738A>C (p.Gln913Pro) |
single nucleotide variant |
Fanconi anemia [RCV003093012] |
Chr15:89299901 [GRCh38]
Chr15:89843132 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter) |
single nucleotide variant |
Fanconi anemia [RCV002944151]|Fanconi anemia complementation group I [RCV003465879] |
Chr15:89261645 [GRCh38]
Chr15:89804876 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1583+12C>T |
single nucleotide variant |
Fanconi anemia [RCV002943086] |
Chr15:89281847 [GRCh38]
Chr15:89825078 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3163G>A (p.Gly1055Arg) |
single nucleotide variant |
Fanconi anemia [RCV003070114] |
Chr15:89305219 [GRCh38]
Chr15:89848450 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2872C>G (p.Gln958Glu) |
single nucleotide variant |
Fanconi anemia [RCV003050495] |
Chr15:89300368 [GRCh38]
Chr15:89843599 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3872G>C (p.Gly1291Ala) |
single nucleotide variant |
Fanconi anemia [RCV002589904] |
Chr15:89315337 [GRCh38]
Chr15:89858568 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3233G>C (p.Arg1078Thr) |
single nucleotide variant |
Fanconi anemia [RCV002590098] |
Chr15:89305387 [GRCh38]
Chr15:89848618 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3886A>T (p.Met1296Leu) |
single nucleotide variant |
Fanconi anemia [RCV002590131] |
Chr15:89315351 [GRCh38]
Chr15:89858582 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3187-2A>G |
single nucleotide variant |
Fanconi anemia [RCV003155617] |
Chr15:89305339 [GRCh38]
Chr15:89848570 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3197T>C (p.Val1066Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003217506] |
Chr15:89305351 [GRCh38]
Chr15:89848582 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3701dup (p.Ser1235fs) |
duplication |
not provided [RCV003135091] |
Chr15:89316769..89316770 [GRCh38]
Chr15:89860000..89860001 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 |
copy number gain |
not provided [RCV003222840] |
Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3 |
pathogenic |
| GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 |
copy number gain |
not provided [RCV003222839] |
Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003147177] |
Chr15:89264025 [GRCh38]
Chr15:89807256 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003147178] |
Chr15:89274243 [GRCh38]
Chr15:89817474 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.204A>G (p.Ile68Met) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003147179] |
Chr15:89260759 [GRCh38]
Chr15:89803990 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3705C>G (p.Ser1235Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003209859] |
Chr15:89316766 [GRCh38]
Chr15:89859997 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 |
copy number gain |
See cases [RCV003329502] |
Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3 |
pathogenic |
| NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs) |
indel |
Fanconi anemia complementation group I [RCV003468163] |
Chr15:89305640..89305646 [GRCh38]
Chr15:89848871..89848877 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs) |
microsatellite |
Fanconi anemia complementation group I [RCV003468167] |
Chr15:89299817..89299818 [GRCh38]
Chr15:89843048..89843049 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003468173] |
Chr15:89291703 [GRCh38]
Chr15:89834934 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003468177] |
Chr15:89292792 [GRCh38]
Chr15:89836023 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1694dup (p.Ser565fs) |
duplication |
Fanconi anemia complementation group I [RCV003468184] |
Chr15:89283245..89283246 [GRCh38]
Chr15:89826476..89826477 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003333461] |
Chr15:89306087 [GRCh38]
Chr15:89849318 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461508] |
Chr15:89307482 [GRCh38]
Chr15:89850713 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3007-1G>C |
single nucleotide variant |
Fanconi anemia [RCV003636030]|Fanconi anemia complementation group I [RCV003461510] |
Chr15:89303863 [GRCh38]
Chr15:89847094 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1939T>A (p.Leu647Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461515] |
Chr15:89291661 [GRCh38]
Chr15:89834892 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461517] |
Chr15:89268425 [GRCh38]
Chr15:89811656 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.996_997del (p.Ser333fs) |
deletion |
Fanconi anemia complementation group I [RCV003461518] |
Chr15:89274188..89274189 [GRCh38]
Chr15:89817419..89817420 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs) |
microsatellite |
Fanconi anemia [RCV003636032]|Fanconi anemia complementation group I [RCV003461521] |
Chr15:89300322..89300325 [GRCh38]
Chr15:89843553..89843556 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1112+2T>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461523] |
Chr15:89274306 [GRCh38]
Chr15:89817537 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.238dup (p.Asp80fs) |
duplication |
Fanconi anemia [RCV003779031]|Fanconi anemia complementation group I [RCV003461525] |
Chr15:89260788..89260789 [GRCh38]
Chr15:89804019..89804020 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.2637-1G>T |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461532] |
Chr15:89299799 [GRCh38]
Chr15:89843030 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3007-1G>T |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461543] |
Chr15:89303863 [GRCh38]
Chr15:89847094 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3355G>T (p.Ala1119Ser) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003067]|Immunodeficiency 62 [RCV003447710] |
Chr15:89306012 [GRCh38]
Chr15:89849243 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2803+11C>G |
single nucleotide variant |
Fanconi anemia [RCV003873024] |
Chr15:89299977 [GRCh38]
Chr15:89843208 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1148dup (p.Glu384fs) |
duplication |
Fanconi anemia complementation group I [RCV003461519] |
Chr15:89276745..89276746 [GRCh38]
Chr15:89819976..89819977 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1967dup (p.Asp656fs) |
duplication |
Fanconi anemia complementation group I [RCV003461522] |
Chr15:89291688..89291689 [GRCh38]
Chr15:89834919..89834920 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1751del (p.Cys584fs) |
deletion |
Fanconi anemia complementation group I [RCV003461538] |
Chr15:89285148 [GRCh38]
Chr15:89828379 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs) |
deletion |
Fanconi anemia complementation group I [RCV003461541] |
Chr15:89299855..89299856 [GRCh38]
Chr15:89843086..89843087 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter) |
duplication |
Fanconi anemia complementation group I [RCV003461547] |
Chr15:89292835..89292836 [GRCh38]
Chr15:89836066..89836067 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003468175] |
Chr15:89301411 [GRCh38]
Chr15:89844642 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs) |
deletion |
Fanconi anemia [RCV003523189]|Fanconi anemia complementation group I [RCV003468180] |
Chr15:89305172 [GRCh38]
Chr15:89848403 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.2626del (p.Asp876fs) |
deletion |
Fanconi anemia complementation group I [RCV003461534] |
Chr15:89295084 [GRCh38]
Chr15:89838315 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2804-2A>T |
single nucleotide variant |
Fanconi anemia [RCV003523188]|Fanconi anemia complementation group I [RCV003461540] |
Chr15:89300298 [GRCh38]
Chr15:89843529 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461550] |
Chr15:89273383 [GRCh38]
Chr15:89816614 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3538-12T>C |
single nucleotide variant |
Fanconi anemia [RCV003524575] |
Chr15:89307464 [GRCh38]
Chr15:89850695 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1584-1G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003468164] |
Chr15:89283135 [GRCh38]
Chr15:89826366 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003468168] |
Chr15:89274216 [GRCh38]
Chr15:89817447 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter) |
single nucleotide variant |
Fanconi anemia [RCV003779032]|Fanconi anemia complementation group I [RCV003468176] |
Chr15:89299843 [GRCh38]
Chr15:89843074 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 15q26.1(chr15:89587464-90219354)x1 |
copy number loss |
not provided [RCV003483246] |
Chr15:89587464..90219354 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1593T>C (p.Asp531=) |
single nucleotide variant |
Fanconi anemia [RCV003874646]|not provided [RCV004767504] |
Chr15:89283145 [GRCh38]
Chr15:89826376 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.3059-14C>A |
single nucleotide variant |
Fanconi anemia [RCV003874786] |
Chr15:89305101 [GRCh38]
Chr15:89848332 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1782C>T (p.Cys594=) |
single nucleotide variant |
Fanconi anemia [RCV003874615] |
Chr15:89285179 [GRCh38]
Chr15:89828410 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2209A>G (p.Ile737Val) |
single nucleotide variant |
not provided [RCV003403110] |
Chr15:89292981 [GRCh38]
Chr15:89836212 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.490del (p.Leu164fs) |
deletion |
Fanconi anemia complementation group I [RCV003461511] |
Chr15:89261863 [GRCh38]
Chr15:89805094 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs) |
microsatellite |
Fanconi anemia complementation group I [RCV003461512] |
Chr15:89291653..89291654 [GRCh38]
Chr15:89834884..89834885 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter) |
single nucleotide variant |
Fanconi anemia [RCV003636031]|Fanconi anemia complementation group I [RCV003461520] |
Chr15:89291619 [GRCh38]
Chr15:89834850 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.2456+1G>A |
single nucleotide variant |
Fanconi anemia [RCV003636033]|Fanconi anemia complementation group I [RCV003461524] |
Chr15:89293998 [GRCh38]
Chr15:89837229 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2889+1G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461528] |
Chr15:89300386 [GRCh38]
Chr15:89843617 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs) |
duplication |
Fanconi anemia [RCV003636034]|Fanconi anemia complementation group I [RCV003461533] |
Chr15:89283192..89283193 [GRCh38]
Chr15:89826423..89826424 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1584-1G>C |
single nucleotide variant |
Fanconi anemia [RCV003523187]|Fanconi anemia complementation group I [RCV003461537] |
Chr15:89283135 [GRCh38]
Chr15:89826366 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1890+1G>T |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461549] |
Chr15:89290282 [GRCh38]
Chr15:89833513 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.249del (p.Glu84fs) |
deletion |
Fanconi anemia complementation group I [RCV003468171] |
Chr15:89260802 [GRCh38]
Chr15:89804033 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.669+1G>T |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003468172] |
Chr15:89264027 [GRCh38]
Chr15:89807258 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer) |
deletion |
Fanconi anemia complementation group I [RCV003468174] |
Chr15:89292856..89292857 [GRCh38]
Chr15:89836087..89836088 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs) |
deletion |
Fanconi anemia complementation group I [RCV003468179] |
Chr15:89292778..89292782 [GRCh38]
Chr15:89836009..89836013 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1293+1G>T |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003468183] |
Chr15:89276892 [GRCh38]
Chr15:89820123 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.727C>G (p.Gln243Glu) |
single nucleotide variant |
not provided [RCV003401018] |
Chr15:89264579 [GRCh38]
Chr15:89807810 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs) |
microsatellite |
Fanconi anemia complementation group I [RCV003461506] |
Chr15:89299857..89299858 [GRCh38]
Chr15:89843088..89843089 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.685_686del (p.Val229fs) |
microsatellite |
Fanconi anemia complementation group I [RCV003461507] |
Chr15:89264535..89264536 [GRCh38]
Chr15:89807766..89807767 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461542] |
Chr15:89305173 [GRCh38]
Chr15:89848404 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.358dup (p.Ser120fs) |
duplication |
Fanconi anemia complementation group I [RCV003461546] |
Chr15:89261653..89261654 [GRCh38]
Chr15:89804884..89804885 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.845A>G (p.Asp282Gly) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003468169] |
Chr15:89268488 [GRCh38]
Chr15:89811719 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3924+2T>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003468170] |
Chr15:89315391 [GRCh38]
Chr15:89858622 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.446del |
deletion |
Fanconi anemia complementation group I [RCV003461509] |
Chr15:89261820 [GRCh38]
Chr15:89805051 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.823_824del (p.Ile275fs) |
deletion |
Fanconi anemia complementation group I [RCV003461514] |
Chr15:89268466..89268467 [GRCh38]
Chr15:89811697..89811698 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2890-2A>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461526] |
Chr15:89301324 [GRCh38]
Chr15:89844555 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2804-2A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461527] |
Chr15:89300298 [GRCh38]
Chr15:89843529 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.475_481del (p.Gln159fs) |
deletion |
Fanconi anemia complementation group I [RCV003461529] |
Chr15:89261849..89261855 [GRCh38]
Chr15:89805080..89805086 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461535] |
Chr15:89276784 [GRCh38]
Chr15:89820015 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461539] |
Chr15:89292754 [GRCh38]
Chr15:89835985 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003461544] |
Chr15:89276844 [GRCh38]
Chr15:89820075 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.422del (p.Lys141fs) |
deletion |
Fanconi anemia complementation group I [RCV003461545] |
Chr15:89261714 [GRCh38]
Chr15:89804945 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1641T>C (p.Phe547=) |
single nucleotide variant |
not provided [RCV003401019] |
Chr15:89283193 [GRCh38]
Chr15:89826424 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV003468165] |
Chr15:89299889 [GRCh38]
Chr15:89843120 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1467del (p.Leu491fs) |
deletion |
Fanconi anemia complementation group I [RCV003468166] |
Chr15:89281254 [GRCh38]
Chr15:89824485 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs) |
deletion |
Fanconi anemia complementation group I [RCV003468178] |
Chr15:89301393..89301405 [GRCh38]
Chr15:89844624..89844636 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2578del (p.Ser860fs) |
deletion |
Fanconi anemia complementation group I [RCV003468181] |
Chr15:89295036 [GRCh38]
Chr15:89838267 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2216del (p.Asn739fs) |
deletion |
Fanconi anemia complementation group I [RCV003468182] |
Chr15:89292983 [GRCh38]
Chr15:89836214 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3376C>T (p.Pro1126Ser) |
single nucleotide variant |
FANCI-related disorder [RCV003416715]|Fanconi anemia complementation group I [RCV005012924] |
Chr15:89306033 [GRCh38]
Chr15:89849264 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1914A>G (p.Lys638=) |
single nucleotide variant |
not provided [RCV003411216] |
Chr15:89291636 [GRCh38]
Chr15:89834867 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3652-1186T>C |
single nucleotide variant |
not provided [RCV003403111] |
Chr15:89311718 [GRCh38]
Chr15:89854949 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1381+1G>T |
single nucleotide variant |
Fanconi anemia [RCV003828147] |
Chr15:89278775 [GRCh38]
Chr15:89822006 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1795G>A (p.Ala599Thr) |
single nucleotide variant |
Fanconi anemia [RCV003879140] |
Chr15:89285192 [GRCh38]
Chr15:89828423 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1795G>T (p.Ala599Ser) |
single nucleotide variant |
Fanconi anemia [RCV003524714] |
Chr15:89285192 [GRCh38]
Chr15:89828423 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3645T>G (p.Gly1215=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003848770] |
Chr15:89316826 [GRCh38]
Chr15:89860057 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3591+16C>G |
single nucleotide variant |
Fanconi anemia [RCV003524892] |
Chr15:89307545 [GRCh38]
Chr15:89850776 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2803+18A>T |
single nucleotide variant |
Fanconi anemia [RCV003524952] |
Chr15:89299984 [GRCh38]
Chr15:89843215 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs) |
deletion |
Fanconi anemia [RCV003525027] |
Chr15:89315311..89315315 [GRCh38]
Chr15:89858542..89858546 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2958C>T (p.Val986=) |
single nucleotide variant |
Fanconi anemia [RCV003525112] |
Chr15:89301394 [GRCh38]
Chr15:89844625 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3462A>G (p.Pro1154=) |
single nucleotide variant |
Fanconi anemia [RCV003525107] |
Chr15:89306119 [GRCh38]
Chr15:89849350 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-8_85-5del |
microsatellite |
Fanconi anemia [RCV003525108] |
Chr15:89258689..89258692 [GRCh38]
Chr15:89801920..89801923 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1993-17C>G |
single nucleotide variant |
Fanconi anemia [RCV003525134] |
Chr15:89292671 [GRCh38]
Chr15:89835902 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2116T>C (p.Leu706=) |
single nucleotide variant |
Fanconi anemia [RCV003525160] |
Chr15:89292811 [GRCh38]
Chr15:89836042 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3256-17G>C |
single nucleotide variant |
Fanconi anemia [RCV003828636] |
Chr15:89305588 [GRCh38]
Chr15:89848819 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.69C>T (p.Thr23=) |
single nucleotide variant |
Fanconi anemia [RCV003877391] |
Chr15:89247716 [GRCh38]
Chr15:89790947 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.654G>A (p.Leu218=) |
single nucleotide variant |
Fanconi anemia [RCV003852762] |
Chr15:89264011 [GRCh38]
Chr15:89807242 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter) |
single nucleotide variant |
Fanconi anemia [RCV003525252] |
Chr15:89292709 [GRCh38]
Chr15:89835940 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1013T>C (p.Phe338Ser) |
single nucleotide variant |
Fanconi anemia [RCV003524525] |
Chr15:89274205 [GRCh38]
Chr15:89817436 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.504-15A>G |
single nucleotide variant |
Fanconi anemia [RCV003827324] |
Chr15:89263404 [GRCh38]
Chr15:89806635 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3312C>T (p.Thr1104=) |
single nucleotide variant |
Fanconi anemia [RCV003525354] |
Chr15:89305661 [GRCh38]
Chr15:89848892 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-19C>A |
single nucleotide variant |
Fanconi anemia [RCV003878368] |
Chr15:89258685 [GRCh38]
Chr15:89801916 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2803+16T>A |
single nucleotide variant |
Fanconi anemia [RCV003524528] |
Chr15:89299982 [GRCh38]
Chr15:89843213 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1860T>C (p.Ala620=) |
single nucleotide variant |
Fanconi anemia [RCV003525356] |
Chr15:89290251 [GRCh38]
Chr15:89833482 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3699A>C (p.Lys1233Asn) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003514773] |
Chr15:89316772 [GRCh38]
Chr15:89860003 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2456+19G>A |
single nucleotide variant |
Fanconi anemia [RCV003524724] |
Chr15:89294016 [GRCh38]
Chr15:89837247 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-8T>C |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003515735] |
Chr15:89316835 [GRCh38]
Chr15:89860066 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.882+16T>G |
single nucleotide variant |
Fanconi anemia [RCV003878537] |
Chr15:89268541 [GRCh38]
Chr15:89811772 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3716C>T (p.Pro1239Leu) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003514077] |
Chr15:89316755 [GRCh38]
Chr15:89859986 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2804-19G>A |
single nucleotide variant |
Fanconi anemia [RCV003524808] |
Chr15:89300281 [GRCh38]
Chr15:89843512 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1152dup (p.Leu385fs) |
duplication |
Fanconi anemia [RCV003524815] |
Chr15:89276748..89276749 [GRCh38]
Chr15:89819979..89819980 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2804-4C>A |
single nucleotide variant |
Fanconi anemia [RCV003524821] |
Chr15:89300296 [GRCh38]
Chr15:89843527 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2636+8A>G |
single nucleotide variant |
Fanconi anemia [RCV003524824] |
Chr15:89295102 [GRCh38]
Chr15:89838333 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1293+9C>T |
single nucleotide variant |
Fanconi anemia [RCV003829642] |
Chr15:89276900 [GRCh38]
Chr15:89820131 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-11C>A |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003627599] |
Chr15:89316838 [GRCh38]
Chr15:89860069 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.489C>G (p.Thr163=) |
single nucleotide variant |
Fanconi anemia [RCV003524960] |
Chr15:89261864 [GRCh38]
Chr15:89805095 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1382-19T>C |
single nucleotide variant |
Fanconi anemia [RCV003882312] |
Chr15:89281151 [GRCh38]
Chr15:89824382 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1074T>C (p.Ser358=) |
single nucleotide variant |
Fanconi anemia [RCV003875840] |
Chr15:89274266 [GRCh38]
Chr15:89817497 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3705C>T (p.Ser1235=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003627659] |
Chr15:89316766 [GRCh38]
Chr15:89859997 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-36_3644-5dup |
duplication |
Progressive sclerosing poliodystrophy [RCV003627710] |
Chr15:89316831..89316832 [GRCh38]
Chr15:89860062..89860063 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3924+12C>A |
single nucleotide variant |
Fanconi anemia [RCV003525067] |
Chr15:89315401 [GRCh38]
Chr15:89858632 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3538-11T>G |
single nucleotide variant |
Fanconi anemia [RCV003525069] |
Chr15:89307465 [GRCh38]
Chr15:89850696 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.531C>G (p.Leu177=) |
single nucleotide variant |
Fanconi anemia [RCV003524875] |
Chr15:89263446 [GRCh38]
Chr15:89806677 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-14C>T |
single nucleotide variant |
Fanconi anemia [RCV003830804] |
Chr15:89316383 [GRCh38]
Chr15:89859614 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.384G>A (p.Glu128=) |
single nucleotide variant |
Fanconi anemia [RCV003525022] |
Chr15:89261680 [GRCh38]
Chr15:89804911 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3671T>A (p.Ile1224Asn) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003628315] |
Chr15:89316800 [GRCh38]
Chr15:89860031 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1381+8A>C |
single nucleotide variant |
Fanconi anemia [RCV003525075] |
Chr15:89278782 [GRCh38]
Chr15:89822013 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.158-18C>G |
single nucleotide variant |
Fanconi anemia [RCV003525113] |
Chr15:89260695 [GRCh38]
Chr15:89803926 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3666G>A (p.Gln1222=) |
single nucleotide variant |
POLG-related disorder [RCV003985902]|Progressive sclerosing poliodystrophy [RCV003514931] |
Chr15:89316805 [GRCh38]
Chr15:89860036 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3006+12G>A |
single nucleotide variant |
Fanconi anemia [RCV003525174] |
Chr15:89301454 [GRCh38]
Chr15:89844685 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2544G>A (p.Gln848=) |
single nucleotide variant |
Fanconi anemia [RCV003525230] |
Chr15:89295002 [GRCh38]
Chr15:89838233 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.660C>G (p.Leu220=) |
single nucleotide variant |
FANCI-related disorder [RCV003939111]|Fanconi anemia [RCV003525258] |
Chr15:89264017 [GRCh38]
Chr15:89807248 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1980A>G (p.Leu660=) |
single nucleotide variant |
Fanconi anemia [RCV003525352] |
Chr15:89291702 [GRCh38]
Chr15:89834933 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-18A>G |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003516432] |
Chr15:89316845 [GRCh38]
Chr15:89860076 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2586T>C (p.Pro862=) |
single nucleotide variant |
Fanconi anemia [RCV003877498] |
Chr15:89295044 [GRCh38]
Chr15:89838275 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-13C>T |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003516426] |
Chr15:89316840 [GRCh38]
Chr15:89860071 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.309A>G (p.Pro103=) |
single nucleotide variant |
Fanconi anemia [RCV003829600] |
Chr15:89261605 [GRCh38]
Chr15:89804836 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.198T>C (p.Arg66=) |
single nucleotide variant |
Fanconi anemia [RCV003876952] |
Chr15:89260753 [GRCh38]
Chr15:89803984 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1797T>G (p.Ala599=) |
single nucleotide variant |
Fanconi anemia [RCV003524552] |
Chr15:89285194 [GRCh38]
Chr15:89828425 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3195G>A (p.Glu1065=) |
single nucleotide variant |
Fanconi anemia [RCV003524594] |
Chr15:89305349 [GRCh38]
Chr15:89848580 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1968T>C (p.Asp656=) |
single nucleotide variant |
Fanconi anemia [RCV003524672] |
Chr15:89291690 [GRCh38]
Chr15:89834921 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.504-5A>G |
single nucleotide variant |
Fanconi anemia [RCV003879784] |
Chr15:89263414 [GRCh38]
Chr15:89806645 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-18A>C |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003628193] |
Chr15:89316845 [GRCh38]
Chr15:89860076 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2640C>A (p.Val880=) |
single nucleotide variant |
Fanconi anemia [RCV003878369] |
Chr15:89299803 [GRCh38]
Chr15:89843034 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3592-7_3592-5del |
microsatellite |
Fanconi anemia [RCV003525012] |
Chr15:89307602..89307604 [GRCh38]
Chr15:89850833..89850835 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.446-2A>G |
single nucleotide variant |
Fanconi anemia [RCV003525079] |
Chr15:89261819 [GRCh38]
Chr15:89805050 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3817-18C>T |
single nucleotide variant |
Fanconi anemia [RCV003525126] |
Chr15:89315264 [GRCh38]
Chr15:89858495 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.883-11C>T |
single nucleotide variant |
Fanconi anemia [RCV003525127] |
Chr15:89273366 [GRCh38]
Chr15:89816597 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.503+19T>G |
single nucleotide variant |
Fanconi anemia [RCV003827632] |
Chr15:89261897 [GRCh38]
Chr15:89805128 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2319C>T (p.Ser773=) |
single nucleotide variant |
Fanconi anemia [RCV003524531] |
Chr15:89293860 [GRCh38]
Chr15:89837091 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1294-16A>T |
single nucleotide variant |
Fanconi anemia [RCV003524711] |
Chr15:89278671 [GRCh38]
Chr15:89821902 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1821+15T>C |
single nucleotide variant |
Fanconi anemia [RCV003524540] |
Chr15:89285233 [GRCh38]
Chr15:89828464 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.257C>G (p.Ala86Gly) |
single nucleotide variant |
Fanconi anemia [RCV003524717] |
Chr15:89260812 [GRCh38]
Chr15:89804043 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3007-9C>G |
single nucleotide variant |
Fanconi anemia [RCV003525211] |
Chr15:89303855 [GRCh38]
Chr15:89847086 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3129C>T (p.Val1043=) |
single nucleotide variant |
Fanconi anemia [RCV003525213] |
Chr15:89305185 [GRCh38]
Chr15:89848416 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3168T>A (p.His1056Gln) |
single nucleotide variant |
Fanconi anemia [RCV003524619] |
Chr15:89305224 [GRCh38]
Chr15:89848455 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.289-13T>C |
single nucleotide variant |
Fanconi anemia [RCV003524769] |
Chr15:89261572 [GRCh38]
Chr15:89804803 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3819G>C (p.Val1273=) |
single nucleotide variant |
Fanconi anemia [RCV003525228] |
Chr15:89315284 [GRCh38]
Chr15:89858515 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2933del (p.Asn978fs) |
deletion |
Fanconi anemia [RCV003524638] |
Chr15:89301368 [GRCh38]
Chr15:89844599 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.157+2TAA[2] |
microsatellite |
Fanconi anemia [RCV003877144] |
Chr15:89258778..89258780 [GRCh38]
Chr15:89802009..89802011 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1821+7C>G |
single nucleotide variant |
Fanconi anemia [RCV003524807] |
Chr15:89285225 [GRCh38]
Chr15:89828456 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3309C>T (p.Ile1103=) |
single nucleotide variant |
Fanconi anemia [RCV003524813] |
Chr15:89305658 [GRCh38]
Chr15:89848889 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1202del (p.Gly401fs) |
deletion |
Fanconi anemia [RCV003524679] |
Chr15:89276799 [GRCh38]
Chr15:89820030 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_002693.3(POLG):c.3711T>C (p.Pro1237=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003628344] |
Chr15:89316760 [GRCh38]
Chr15:89859991 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2733T>C (p.Gly911=) |
single nucleotide variant |
Fanconi anemia [RCV003826989] |
Chr15:89299896 [GRCh38]
Chr15:89843127 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3831G>A (p.Gln1277=) |
single nucleotide variant |
Fanconi anemia [RCV003524869] |
Chr15:89315296 [GRCh38]
Chr15:89858527 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1689T>C (p.Ser563=) |
single nucleotide variant |
Fanconi anemia [RCV003827365] |
Chr15:89283241 [GRCh38]
Chr15:89826472 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3695A>G (p.Glu1232Gly) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003627383] |
Chr15:89316776 [GRCh38]
Chr15:89860007 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3654G>C (p.Leu1218=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003628538] |
Chr15:89316817 [GRCh38]
Chr15:89860048 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1978C>T (p.Leu660=) |
single nucleotide variant |
Fanconi anemia [RCV003524958] |
Chr15:89291700 [GRCh38]
Chr15:89834931 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1891-11A>G |
single nucleotide variant |
Fanconi anemia [RCV003524959] |
Chr15:89291602 [GRCh38]
Chr15:89834833 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1584-20C>T |
single nucleotide variant |
Fanconi anemia [RCV003827518] |
Chr15:89283116 [GRCh38]
Chr15:89826347 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3358T>A (p.Ser1120Thr) |
single nucleotide variant |
Fanconi anemia [RCV003876225] |
Chr15:89306015 [GRCh38]
Chr15:89849246 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3646G>A (p.Glu1216Lys) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003626303] |
Chr15:89316825 [GRCh38]
Chr15:89860056 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3316C>A (p.Leu1106Ile) |
single nucleotide variant |
Fanconi anemia [RCV003811098] |
Chr15:89305665 [GRCh38]
Chr15:89848896 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter) |
single nucleotide variant |
Fanconi anemia [RCV003524162] |
Chr15:89292792 [GRCh38]
Chr15:89836023 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3471_3477del (p.Ser1157fs) |
deletion |
Fanconi anemia [RCV003522911] |
Chr15:89306127..89306133 [GRCh38]
Chr15:89849358..89849364 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3591+16C>T |
single nucleotide variant |
Fanconi anemia [RCV003524172] |
Chr15:89307545 [GRCh38]
Chr15:89850776 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.879_882+14del |
deletion |
Fanconi anemia [RCV003524237] |
Chr15:89268518..89268535 [GRCh38]
Chr15:89811749..89811766 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.339dup (p.Ser114Ter) |
duplication |
Fanconi anemia [RCV003524238] |
Chr15:89261633..89261634 [GRCh38]
Chr15:89804864..89804865 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1699-17G>A |
single nucleotide variant |
Fanconi anemia [RCV003523257] |
Chr15:89285079 [GRCh38]
Chr15:89828310 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3714A>T (p.Thr1238=) |
single nucleotide variant |
Fanconi anemia [RCV003811226] |
Chr15:89312966 [GRCh38]
Chr15:89856197 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.651T>G (p.Leu217=) |
single nucleotide variant |
Fanconi anemia [RCV003524283] |
Chr15:89264008 [GRCh38]
Chr15:89807239 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3538-12T>G |
single nucleotide variant |
Fanconi anemia [RCV003523324] |
Chr15:89307464 [GRCh38]
Chr15:89850695 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2291+1G>A |
single nucleotide variant |
Fanconi anemia [RCV003523242] |
Chr15:89293064 [GRCh38]
Chr15:89836295 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1888C>G (p.Gln630Glu) |
single nucleotide variant |
Fanconi anemia [RCV003524321]|Fanconi anemia complementation group I [RCV005003658] |
Chr15:89290279 [GRCh38]
Chr15:89833510 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3066C>T (p.Ala1022=) |
single nucleotide variant |
Fanconi anemia [RCV003524347] |
Chr15:89305122 [GRCh38]
Chr15:89848353 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs) |
insertion |
Fanconi anemia [RCV003524351] |
Chr15:89306187..89306188 [GRCh38]
Chr15:89849418..89849419 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3150C>T (p.Ser1050=) |
single nucleotide variant |
Fanconi anemia [RCV003524345] |
Chr15:89305206 [GRCh38]
Chr15:89848437 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2170-3dup |
duplication |
Fanconi anemia [RCV003524358] |
Chr15:89292935..89292936 [GRCh38]
Chr15:89836166..89836167 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3816+18A>T |
single nucleotide variant |
Fanconi anemia [RCV003523421] |
Chr15:89314725 [GRCh38]
Chr15:89857956 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.774T>G (p.Thr258=) |
single nucleotide variant |
Fanconi anemia [RCV003524399] |
Chr15:89268417 [GRCh38]
Chr15:89811648 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-10T>C |
single nucleotide variant |
Fanconi anemia [RCV003523390] |
Chr15:89258694 [GRCh38]
Chr15:89801925 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2456+17G>C |
single nucleotide variant |
Fanconi anemia [RCV003524400] |
Chr15:89294014 [GRCh38]
Chr15:89837245 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2793C>T (p.Leu931=) |
single nucleotide variant |
Fanconi anemia [RCV003523405] |
Chr15:89299956 [GRCh38]
Chr15:89843187 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.393T>G (p.Pro131=) |
single nucleotide variant |
Fanconi anemia [RCV003523229] |
Chr15:89261689 [GRCh38]
Chr15:89804920 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3816+12_3816+13del |
microsatellite |
Fanconi anemia [RCV003522149] |
Chr15:89314716..89314717 [GRCh38]
Chr15:89857947..89857948 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3817-13A>G |
single nucleotide variant |
Fanconi anemia [RCV003523442] |
Chr15:89315269 [GRCh38]
Chr15:89858500 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.849T>C (p.Tyr283=) |
single nucleotide variant |
Fanconi anemia [RCV003524497] |
Chr15:89268492 [GRCh38]
Chr15:89811723 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.975+23dup |
duplication |
Fanconi anemia [RCV003522115] |
Chr15:89273488..89273489 [GRCh38]
Chr15:89816719..89816720 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3984A>G (p.Lys1328=) |
single nucleotide variant |
Fanconi anemia [RCV003522121] |
Chr15:89316456 [GRCh38]
Chr15:89859687 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3880C>T (p.Leu1294=) |
single nucleotide variant |
Fanconi anemia [RCV003522128] |
Chr15:89315345 [GRCh38]
Chr15:89858576 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.670-13G>A |
single nucleotide variant |
Fanconi anemia [RCV003522233] |
Chr15:89264509 [GRCh38]
Chr15:89807740 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.288+10C>G |
single nucleotide variant |
Fanconi anemia [RCV003523541] |
Chr15:89260853 [GRCh38]
Chr15:89804084 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-1G>T |
single nucleotide variant |
Fanconi anemia [RCV003851607]|Fanconi anemia complementation group I [RCV004573366] |
Chr15:89258703 [GRCh38]
Chr15:89801934 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.996T>G (p.Thr332=) |
single nucleotide variant |
Fanconi anemia [RCV003523539] |
Chr15:89274188 [GRCh38]
Chr15:89817419 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3817-10C>T |
single nucleotide variant |
Fanconi anemia [RCV003522288] |
Chr15:89315272 [GRCh38]
Chr15:89858503 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-11TC[3] |
microsatellite |
Fanconi anemia [RCV003523616] |
Chr15:89294904..89294905 [GRCh38]
Chr15:89838135..89838136 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2937C>T (p.Ser979=) |
single nucleotide variant |
Fanconi anemia [RCV003811522]|not provided [RCV004721231] |
Chr15:89301373 [GRCh38]
Chr15:89844604 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1983A>G (p.Gln661=) |
single nucleotide variant |
Fanconi anemia [RCV003523590] |
Chr15:89291705 [GRCh38]
Chr15:89834936 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1272T>C (p.Asn424=) |
single nucleotide variant |
Fanconi anemia [RCV003523624] |
Chr15:89276870 [GRCh38]
Chr15:89820101 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3924+17G>A |
single nucleotide variant |
Fanconi anemia [RCV003522417] |
Chr15:89315406 [GRCh38]
Chr15:89858637 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1699-15del |
deletion |
Fanconi anemia [RCV003522325] |
Chr15:89285080 [GRCh38]
Chr15:89828311 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2591G>T (p.Gly864Val) |
single nucleotide variant |
Fanconi anemia [RCV003522306] |
Chr15:89295049 [GRCh38]
Chr15:89838280 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.624A>G (p.Gln208=) |
single nucleotide variant |
Fanconi anemia [RCV003522329] |
Chr15:89263981 [GRCh38]
Chr15:89807212 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3921A>G (p.Glu1307=) |
single nucleotide variant |
Fanconi anemia [RCV003522357] |
Chr15:89315386 [GRCh38]
Chr15:89858617 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3282G>A (p.Lys1094=) |
single nucleotide variant |
Fanconi anemia [RCV003523520] |
Chr15:89305631 [GRCh38]
Chr15:89848862 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.24A>G (p.Leu8=) |
single nucleotide variant |
Fanconi anemia [RCV003522438] |
Chr15:89247671 [GRCh38]
Chr15:89790902 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3689A>T (p.Lys1230Met) |
single nucleotide variant |
Fanconi anemia [RCV003850833] |
Chr15:89312941 [GRCh38]
Chr15:89856172 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3684dup (p.Lys1229fs) |
duplication |
Fanconi anemia [RCV003850830] |
Chr15:89312935..89312936 [GRCh38]
Chr15:89856166..89856167 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3219A>G (p.Ala1073=) |
single nucleotide variant |
Fanconi anemia [RCV003523758] |
Chr15:89305373 [GRCh38]
Chr15:89848604 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1828T>A (p.Tyr610Asn) |
single nucleotide variant |
Fanconi anemia [RCV003523772] |
Chr15:89290219 [GRCh38]
Chr15:89833450 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.594A>G (p.Ala198=) |
single nucleotide variant |
Fanconi anemia [RCV003522559] |
Chr15:89263951 [GRCh38]
Chr15:89807182 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1222C>T (p.Pro408Ser) |
single nucleotide variant |
Fanconi anemia [RCV003522570] |
Chr15:89276820 [GRCh38]
Chr15:89820051 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1880_1886del (p.Leu627fs) |
deletion |
Fanconi anemia [RCV003523847]|Fanconi anemia complementation group I [RCV005003674] |
Chr15:89290268..89290274 [GRCh38]
Chr15:89833499..89833505 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1989A>C (p.Pro663=) |
single nucleotide variant |
Fanconi anemia [RCV003523812] |
Chr15:89291711 [GRCh38]
Chr15:89834942 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2307G>C (p.Glu769Asp) |
single nucleotide variant |
Fanconi anemia [RCV003523878] |
Chr15:89293848 [GRCh38]
Chr15:89837079 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3759C>G (p.Leu1253=) |
single nucleotide variant |
Fanconi anemia [RCV003522670] |
Chr15:89314650 [GRCh38]
Chr15:89857881 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2292-12dup |
duplication |
Fanconi anemia [RCV003522608] |
Chr15:89293815..89293816 [GRCh38]
Chr15:89837046..89837047 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.1583+20A>G |
single nucleotide variant |
Fanconi anemia [RCV003522705] |
Chr15:89281855 [GRCh38]
Chr15:89825086 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.545+16del |
deletion |
Fanconi anemia [RCV003523950] |
Chr15:89263473 [GRCh38]
Chr15:89806704 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.882+12C>T |
single nucleotide variant |
Fanconi anemia [RCV003522834] |
Chr15:89268537 [GRCh38]
Chr15:89811768 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter) |
single nucleotide variant |
Fanconi anemia [RCV003524085] |
Chr15:89261850 [GRCh38]
Chr15:89805081 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1329G>A (p.Gln443=) |
single nucleotide variant |
Fanconi anemia [RCV003524065] |
Chr15:89278722 [GRCh38]
Chr15:89821953 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2727G>A (p.Leu909=) |
single nucleotide variant |
Fanconi anemia [RCV003635782] |
Chr15:89299890 [GRCh38]
Chr15:89843121 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.755+16T>C |
single nucleotide variant |
Fanconi anemia [RCV003522467] |
Chr15:89264623 [GRCh38]
Chr15:89807854 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-8C>G |
single nucleotide variant |
Fanconi anemia [RCV003522470] |
Chr15:89258696 [GRCh38]
Chr15:89801927 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.545+17C>T |
single nucleotide variant |
Fanconi anemia [RCV003524261] |
Chr15:89263477 [GRCh38]
Chr15:89806708 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter) |
single nucleotide variant |
Fanconi anemia [RCV003636345] |
Chr15:89295051 [GRCh38]
Chr15:89838282 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1350C>G (p.Thr450=) |
single nucleotide variant |
Fanconi anemia [RCV003635854] |
Chr15:89278743 [GRCh38]
Chr15:89821974 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.126T>C (p.Val42=) |
single nucleotide variant |
Fanconi anemia [RCV003635874] |
Chr15:89258745 [GRCh38]
Chr15:89801976 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3423G>C (p.Leu1141=) |
single nucleotide variant |
Fanconi anemia [RCV003635886] |
Chr15:89306080 [GRCh38]
Chr15:89849311 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.670-17T>C |
single nucleotide variant |
Fanconi anemia [RCV003637042] |
Chr15:89264505 [GRCh38]
Chr15:89807736 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3058+1G>C |
single nucleotide variant |
Fanconi anemia [RCV003635811] |
Chr15:89303916 [GRCh38]
Chr15:89847147 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1113-13T>C |
single nucleotide variant |
Fanconi anemia [RCV003635818] |
Chr15:89276698 [GRCh38]
Chr15:89819929 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3673_3679dup (p.Gly1227fs) |
duplication |
Fanconi anemia [RCV003636358] |
Chr15:89312924..89312925 [GRCh38]
Chr15:89856155..89856156 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1713T>C (p.Val571=) |
single nucleotide variant |
Fanconi anemia [RCV003636370] |
Chr15:89285110 [GRCh38]
Chr15:89828341 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2838del (p.Asp946fs) |
deletion |
Fanconi anemia [RCV003637056] |
Chr15:89300334 [GRCh38]
Chr15:89843565 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2619C>T (p.Asn873=) |
single nucleotide variant |
Fanconi anemia [RCV003637066] |
Chr15:89295077 [GRCh38]
Chr15:89838308 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1194T>C (p.Val398=) |
single nucleotide variant |
Fanconi anemia [RCV003637404] |
Chr15:89276792 [GRCh38]
Chr15:89820023 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-18C>T |
single nucleotide variant |
Fanconi anemia [RCV003637259] |
Chr15:89294897 [GRCh38]
Chr15:89838128 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3570T>A (p.Ile1190=) |
single nucleotide variant |
Fanconi anemia [RCV003637412] |
Chr15:89307508 [GRCh38]
Chr15:89850739 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1074T>G (p.Ser358=) |
single nucleotide variant |
Fanconi anemia [RCV003523821] |
Chr15:89274266 [GRCh38]
Chr15:89817497 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.445+15A>T |
single nucleotide variant |
Fanconi anemia [RCV003523822] |
Chr15:89261756 [GRCh38]
Chr15:89804987 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2877C>A (p.Ile959=) |
single nucleotide variant |
Fanconi anemia [RCV003523831] |
Chr15:89300373 [GRCh38]
Chr15:89843604 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2803+13G>A |
single nucleotide variant |
Fanconi anemia [RCV003523846] |
Chr15:89299979 [GRCh38]
Chr15:89843210 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.158-18C>T |
single nucleotide variant |
Fanconi anemia [RCV003524357] |
Chr15:89260695 [GRCh38]
Chr15:89803926 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2636+18C>A |
single nucleotide variant |
Fanconi anemia [RCV003636424] |
Chr15:89295112 [GRCh38]
Chr15:89838343 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1428T>C (p.Ser476=) |
single nucleotide variant |
Fanconi anemia [RCV003636429] |
Chr15:89281216 [GRCh38]
Chr15:89824447 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.283C>T (p.Leu95=) |
single nucleotide variant |
Fanconi anemia [RCV003636183] |
Chr15:89260838 [GRCh38]
Chr15:89804069 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.615G>C (p.Met205Ile) |
single nucleotide variant |
Fanconi anemia [RCV003637097] |
Chr15:89263972 [GRCh38]
Chr15:89807203 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3105G>C (p.Leu1035=) |
single nucleotide variant |
Fanconi anemia [RCV003637405] |
Chr15:89305161 [GRCh38]
Chr15:89848392 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1903del (p.Tyr635fs) |
deletion |
Fanconi anemia [RCV003523353] |
Chr15:89291625 [GRCh38]
Chr15:89834856 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3286C>T (p.Leu1096=) |
single nucleotide variant |
Fanconi anemia [RCV003524388] |
Chr15:89305635 [GRCh38]
Chr15:89848866 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2609T>A (p.Ile870Asn) |
single nucleotide variant |
Fanconi anemia [RCV003524405] |
Chr15:89295067 [GRCh38]
Chr15:89838298 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2298T>C (p.Asn766=) |
single nucleotide variant |
Fanconi anemia [RCV003636293] |
Chr15:89293839 [GRCh38]
Chr15:89837070 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.912_916del (p.Asn304fs) |
deletion |
Fanconi anemia [RCV003522667]|Fanconi anemia complementation group I [RCV005013060] |
Chr15:89273403..89273407 [GRCh38]
Chr15:89816634..89816638 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.976-1G>T |
single nucleotide variant |
Fanconi anemia [RCV003524444] |
Chr15:89274167 [GRCh38]
Chr15:89817398 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3136C>T (p.Leu1046=) |
single nucleotide variant |
Fanconi anemia [RCV003524456] |
Chr15:89305192 [GRCh38]
Chr15:89848423 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.827T>C (p.Val276Ala) |
single nucleotide variant |
Fanconi anemia [RCV003834434] |
Chr15:89268470 [GRCh38]
Chr15:89811701 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3817-14C>A |
single nucleotide variant |
Fanconi anemia [RCV003636465] |
Chr15:89315268 [GRCh38]
Chr15:89858499 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3817-9T>C |
single nucleotide variant |
Fanconi anemia [RCV003636468] |
Chr15:89315273 [GRCh38]
Chr15:89858504 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2004G>A (p.Leu668=) |
single nucleotide variant |
Fanconi anemia [RCV003636764] |
Chr15:89292699 [GRCh38]
Chr15:89835930 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2866G>A (p.Ala956Thr) |
single nucleotide variant |
Fanconi anemia [RCV003637282] |
Chr15:89300362 [GRCh38]
Chr15:89843593 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3636C>T (p.Phe1212=) |
single nucleotide variant |
Fanconi anemia [RCV003814492] |
Chr15:89307657 [GRCh38]
Chr15:89850888 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.366G>A (p.Val122=) |
single nucleotide variant |
Fanconi anemia [RCV003522118] |
Chr15:89261662 [GRCh38]
Chr15:89804893 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3537+18G>A |
single nucleotide variant |
Fanconi anemia [RCV003522124] |
Chr15:89306212 [GRCh38]
Chr15:89849443 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter) |
single nucleotide variant |
Fanconi anemia [RCV003522708] |
Chr15:89305202 [GRCh38]
Chr15:89848433 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3187-7del |
deletion |
Fanconi anemia [RCV003523959] |
Chr15:89305331 [GRCh38]
Chr15:89848562 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.3561C>A (p.Ser1187=) |
single nucleotide variant |
Fanconi anemia [RCV003523965] |
Chr15:89307499 [GRCh38]
Chr15:89850730 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.157+1G>A |
single nucleotide variant |
Fanconi anemia [RCV003524507] |
Chr15:89258777 [GRCh38]
Chr15:89802008 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1698+10A>G |
single nucleotide variant |
Fanconi anemia [RCV003636514] |
Chr15:89283260 [GRCh38]
Chr15:89826491 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3720+14A>T |
single nucleotide variant |
Fanconi anemia [RCV003636790] |
Chr15:89312986 [GRCh38]
Chr15:89856217 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1205A>G (p.Lys402Arg) |
single nucleotide variant |
Fanconi anemia [RCV003637290] |
Chr15:89276803 [GRCh38]
Chr15:89820034 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1107G>A (p.Lys369=) |
single nucleotide variant |
Fanconi anemia [RCV003637294] |
Chr15:89274299 [GRCh38]
Chr15:89817530 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1513-9C>G |
single nucleotide variant |
Fanconi anemia [RCV003522145] |
Chr15:89281756 [GRCh38]
Chr15:89824987 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2340dup (p.Leu781fs) |
duplication |
Fanconi anemia [RCV003524512] |
Chr15:89293875..89293876 [GRCh38]
Chr15:89837106..89837107 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3924+20T>C |
single nucleotide variant |
Fanconi anemia [RCV003636526] |
Chr15:89315409 [GRCh38]
Chr15:89858640 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.855A>T (p.Leu285=) |
single nucleotide variant |
Fanconi anemia [RCV003636553] |
Chr15:89268498 [GRCh38]
Chr15:89811729 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1425A>G (p.Gln475=) |
single nucleotide variant |
Fanconi anemia [RCV003637146] |
Chr15:89281213 [GRCh38]
Chr15:89824444 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1626G>C (p.Leu542=) |
single nucleotide variant |
Fanconi anemia [RCV003522158] |
Chr15:89283178 [GRCh38]
Chr15:89826409 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1890+12T>C |
single nucleotide variant |
Fanconi anemia [RCV003522752] |
Chr15:89290293 [GRCh38]
Chr15:89833524 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3498G>C (p.Leu1166Phe) |
single nucleotide variant |
Fanconi anemia [RCV003636560] |
Chr15:89306155 [GRCh38]
Chr15:89849386 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3664_3665insCT (p.Ser1222fs) |
insertion |
Fanconi anemia [RCV003636578] |
Chr15:89312916..89312917 [GRCh38]
Chr15:89856147..89856148 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1752C>T (p.Cys584=) |
single nucleotide variant |
Fanconi anemia [RCV003636583] |
Chr15:89285149 [GRCh38]
Chr15:89828380 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3924+12C>T |
single nucleotide variant |
Fanconi anemia [RCV003636843] |
Chr15:89315401 [GRCh38]
Chr15:89858632 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3592-19C>T |
single nucleotide variant |
Fanconi anemia [RCV003636858] |
Chr15:89307594 [GRCh38]
Chr15:89850825 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1998T>C (p.Tyr666=) |
single nucleotide variant |
Fanconi anemia [RCV003636597] |
Chr15:89292693 [GRCh38]
Chr15:89835924 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2842G>C (p.Asp948His) |
single nucleotide variant |
Fanconi anemia [RCV003636865] |
Chr15:89300338 [GRCh38]
Chr15:89843569 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1515C>A (p.Pro505=) |
single nucleotide variant |
Fanconi anemia [RCV003637327] |
Chr15:89281767 [GRCh38]
Chr15:89824998 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3265C>T (p.Leu1089=) |
single nucleotide variant |
Fanconi anemia [RCV003523568] |
Chr15:89305614 [GRCh38]
Chr15:89848845 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.865C>T (p.Leu289Phe) |
single nucleotide variant |
Fanconi anemia [RCV003524043] |
Chr15:89268508 [GRCh38]
Chr15:89811739 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.388C>T (p.Leu130=) |
single nucleotide variant |
Fanconi anemia [RCV003636609] |
Chr15:89261684 [GRCh38]
Chr15:89804915 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3538-6del |
deletion |
Fanconi anemia [RCV003636631] |
Chr15:89307464 [GRCh38]
Chr15:89850695 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.2457-16C>T |
single nucleotide variant |
Fanconi anemia [RCV003636897] |
Chr15:89294899 [GRCh38]
Chr15:89838130 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2292-8_2292-7insAT |
insertion |
Fanconi anemia [RCV003637330] |
Chr15:89293824..89293825 [GRCh38]
Chr15:89837055..89837056 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1989A>G (p.Pro663=) |
single nucleotide variant |
Fanconi anemia [RCV003522274] |
Chr15:89291711 [GRCh38]
Chr15:89834942 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.237G>A (p.Gly79=) |
single nucleotide variant |
Fanconi anemia [RCV003522287] |
Chr15:89260792 [GRCh38]
Chr15:89804023 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter) |
single nucleotide variant |
Fanconi anemia [RCV003635858] |
Chr15:89281195 [GRCh38]
Chr15:89824426 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3349+17del |
deletion |
Fanconi anemia [RCV003636119] |
Chr15:89305715 [GRCh38]
Chr15:89848946 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.573G>A (p.Val191=) |
single nucleotide variant |
Fanconi anemia [RCV003636095] |
Chr15:89263930 [GRCh38]
Chr15:89807161 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1382-18A>G |
single nucleotide variant |
Fanconi anemia [RCV003636140] |
Chr15:89281152 [GRCh38]
Chr15:89824383 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1294-17T>C |
single nucleotide variant |
Fanconi anemia [RCV003636927] |
Chr15:89278670 [GRCh38]
Chr15:89821901 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1198G>C (p.Asp400His) |
single nucleotide variant |
Fanconi anemia [RCV003637188] |
Chr15:89276796 [GRCh38]
Chr15:89820027 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.390A>G (p.Leu130=) |
single nucleotide variant |
Fanconi anemia [RCV003637344] |
Chr15:89261686 [GRCh38]
Chr15:89804917 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2854A>G (p.Thr952Ala) |
single nucleotide variant |
Fanconi anemia [RCV003522307] |
Chr15:89300350 [GRCh38]
Chr15:89843581 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.327C>T (p.Ala109=) |
single nucleotide variant |
Fanconi anemia [RCV003635887] |
Chr15:89261623 [GRCh38]
Chr15:89804854 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1294-8del |
deletion |
Fanconi anemia [RCV003636186] |
Chr15:89278679 [GRCh38]
Chr15:89821910 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.157+14A>G |
single nucleotide variant |
Fanconi anemia [RCV003636676] |
Chr15:89258790 [GRCh38]
Chr15:89802021 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3186+14C>T |
single nucleotide variant |
Fanconi anemia [RCV003636939] |
Chr15:89305256 [GRCh38]
Chr15:89848487 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3537+19C>T |
single nucleotide variant |
Fanconi anemia [RCV003637352] |
Chr15:89306213 [GRCh38]
Chr15:89849444 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.576A>G (p.Glu192=) |
single nucleotide variant |
Fanconi anemia [RCV003524154] |
Chr15:89263933 [GRCh38]
Chr15:89807164 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2076G>A (p.Glu692=) |
single nucleotide variant |
Fanconi anemia [RCV003636701] |
Chr15:89292771 [GRCh38]
Chr15:89836002 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2803+6C>T |
single nucleotide variant |
Fanconi anemia [RCV003636969] |
Chr15:89299972 [GRCh38]
Chr15:89843203 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1890+20A>C |
single nucleotide variant |
Fanconi anemia [RCV003637203] |
Chr15:89290301 [GRCh38]
Chr15:89833532 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1382-11C>G |
single nucleotide variant |
Fanconi anemia [RCV003637204] |
Chr15:89281159 [GRCh38]
Chr15:89824390 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2616G>A (p.Gln872=) |
single nucleotide variant |
Fanconi anemia [RCV003637207] |
Chr15:89295074 [GRCh38]
Chr15:89838305 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2790T>A (p.Phe930Leu) |
single nucleotide variant |
Fanconi anemia [RCV003635625] |
Chr15:89299953 [GRCh38]
Chr15:89843184 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3924+15_3924+16del |
deletion |
Fanconi anemia [RCV003850804] |
Chr15:89315403..89315404 [GRCh38]
Chr15:89858634..89858635 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3720+16T>A |
single nucleotide variant |
Fanconi anemia [RCV003636054] |
Chr15:89312988 [GRCh38]
Chr15:89856219 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3654T>C (p.Asn1218=) |
single nucleotide variant |
Fanconi anemia [RCV003636725] |
Chr15:89312906 [GRCh38]
Chr15:89856137 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.882+18A>G |
single nucleotide variant |
Fanconi anemia [RCV003636736] |
Chr15:89268543 [GRCh38]
Chr15:89811774 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1506A>C (p.Ala502=) |
single nucleotide variant |
Fanconi anemia [RCV003636741] |
Chr15:89281294 [GRCh38]
Chr15:89824525 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1931C>T (p.Pro644Leu) |
single nucleotide variant |
Fanconi anemia [RCV003637215] |
Chr15:89291653 [GRCh38]
Chr15:89834884 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1699-13G>A |
single nucleotide variant |
Fanconi anemia [RCV003522378] |
Chr15:89285083 [GRCh38]
Chr15:89828314 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1822-15T>C |
single nucleotide variant |
Fanconi anemia [RCV003522377] |
Chr15:89290198 [GRCh38]
Chr15:89833429 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.474dup (p.Gln159fs) |
duplication |
Fanconi anemia [RCV003636257] |
Chr15:89261846..89261847 [GRCh38]
Chr15:89805077..89805078 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1217C>G (p.Thr406Ser) |
single nucleotide variant |
Fanconi anemia [RCV003636266]|Fanconi anemia complementation group I [RCV005013078] |
Chr15:89276815 [GRCh38]
Chr15:89820046 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1381+12T>G |
single nucleotide variant |
Fanconi anemia [RCV003636748] |
Chr15:89278786 [GRCh38]
Chr15:89822017 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.504-10C>T |
single nucleotide variant |
Fanconi anemia [RCV003637017] |
Chr15:89263409 [GRCh38]
Chr15:89806640 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.289-15C>G |
single nucleotide variant |
Fanconi anemia [RCV003637377] |
Chr15:89261570 [GRCh38]
Chr15:89804801 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter) |
single nucleotide variant |
Fanconi anemia [RCV003635778] |
Chr15:89292963 [GRCh38]
Chr15:89836194 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.755+14T>C |
single nucleotide variant |
Fanconi anemia [RCV003635797] |
Chr15:89264621 [GRCh38]
Chr15:89807852 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1993-10del |
deletion |
Fanconi anemia [RCV003636857] |
Chr15:89292675 [GRCh38]
Chr15:89835906 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.960A>G (p.Gln320=) |
single nucleotide variant |
Fanconi anemia [RCV003636966] |
Chr15:89273454 [GRCh38]
Chr15:89816685 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.883-7C>T |
single nucleotide variant |
Fanconi anemia [RCV003637064] |
Chr15:89273370 [GRCh38]
Chr15:89816601 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-14C>A |
single nucleotide variant |
Fanconi anemia [RCV003837509] |
Chr15:89316383 [GRCh38]
Chr15:89859614 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.222G>A (p.Gln74=) |
single nucleotide variant |
Fanconi anemia [RCV003523399] |
Chr15:89260777 [GRCh38]
Chr15:89804008 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3391G>C (p.Glu1131Gln) |
single nucleotide variant |
Fanconi anemia [RCV003523430] |
Chr15:89306048 [GRCh38]
Chr15:89849279 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.342T>C (p.Ser114=) |
single nucleotide variant |
Fanconi anemia [RCV003852624] |
Chr15:89261638 [GRCh38]
Chr15:89804869 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2314C>T (p.Leu772=) |
single nucleotide variant |
Fanconi anemia [RCV003636603] |
Chr15:89293855 [GRCh38]
Chr15:89837086 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1110T>C (p.Asn370=) |
single nucleotide variant |
Fanconi anemia [RCV003636610] |
Chr15:89274302 [GRCh38]
Chr15:89817533 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2889+13G>T |
single nucleotide variant |
Fanconi anemia [RCV003636968] |
Chr15:89300398 [GRCh38]
Chr15:89843629 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3187-18C>G |
single nucleotide variant |
Fanconi anemia [RCV003636974] |
Chr15:89305323 [GRCh38]
Chr15:89848554 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2052C>G (p.Pro684=) |
single nucleotide variant |
Fanconi anemia [RCV003635872] |
Chr15:89292747 [GRCh38]
Chr15:89835978 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3591+8G>A |
single nucleotide variant |
Fanconi anemia [RCV003635880] |
Chr15:89307537 [GRCh38]
Chr15:89850768 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3231G>A (p.Leu1077=) |
single nucleotide variant |
Fanconi anemia [RCV003635881] |
Chr15:89305385 [GRCh38]
Chr15:89848616 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1699-8C>T |
single nucleotide variant |
Fanconi anemia [RCV003635890] |
Chr15:89285088 [GRCh38]
Chr15:89828319 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.445+12C>T |
single nucleotide variant |
Fanconi anemia [RCV003523474] |
Chr15:89261753 [GRCh38]
Chr15:89804984 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2646A>C (p.Leu882=) |
single nucleotide variant |
Fanconi anemia [RCV003636613] |
Chr15:89299809 [GRCh38]
Chr15:89843040 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1891-13T>C |
single nucleotide variant |
Fanconi anemia [RCV003636883] |
Chr15:89291600 [GRCh38]
Chr15:89834831 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.882+12C>G |
single nucleotide variant |
Fanconi anemia [RCV003636884] |
Chr15:89268537 [GRCh38]
Chr15:89811768 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.938T>C (p.Leu313Pro) |
single nucleotide variant |
Fanconi anemia [RCV003637092] |
Chr15:89273432 [GRCh38]
Chr15:89816663 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.211TGT[1] (p.Cys72del) |
microsatellite |
Fanconi anemia [RCV003635437] |
Chr15:89260765..89260767 [GRCh38]
Chr15:89803996..89803998 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3777G>A (p.Gln1259=) |
single nucleotide variant |
Fanconi anemia [RCV003522226] |
Chr15:89314668 [GRCh38]
Chr15:89857899 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2644C>T (p.Leu882=) |
single nucleotide variant |
Fanconi anemia [RCV003523543] |
Chr15:89299807 [GRCh38]
Chr15:89843038 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.445+13C>A |
single nucleotide variant |
Fanconi anemia [RCV003636893] |
Chr15:89261754 [GRCh38]
Chr15:89804985 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.630dup (p.Pro211fs) |
duplication |
Fanconi anemia [RCV003636898] |
Chr15:89263986..89263987 [GRCh38]
Chr15:89807217..89807218 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3558C>T (p.Ser1186=) |
single nucleotide variant |
Fanconi anemia [RCV003637007] |
Chr15:89307496 [GRCh38]
Chr15:89850727 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.976-2_977dup |
duplication |
Fanconi anemia [RCV003637112] |
Chr15:89274165..89274166 [GRCh38]
Chr15:89817396..89817397 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3816+10C>T |
single nucleotide variant |
Fanconi anemia [RCV003637118] |
Chr15:89314717 [GRCh38]
Chr15:89857948 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2637-18C>T |
single nucleotide variant |
Fanconi anemia [RCV003523601] |
Chr15:89299782 [GRCh38]
Chr15:89843013 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.516A>G (p.Gln172=) |
single nucleotide variant |
Fanconi anemia [RCV003636650] |
Chr15:89263431 [GRCh38]
Chr15:89806662 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3032C>T (p.Ser1011Leu) |
single nucleotide variant |
Fanconi anemia [RCV003636651] |
Chr15:89303889 [GRCh38]
Chr15:89847120 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3882A>G (p.Leu1294=) |
single nucleotide variant |
Fanconi anemia [RCV003636659] |
Chr15:89315347 [GRCh38]
Chr15:89858578 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.882+15G>A |
single nucleotide variant |
Fanconi anemia [RCV003637020] |
Chr15:89268540 [GRCh38]
Chr15:89811771 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2850T>C (p.Ser950=) |
single nucleotide variant |
Fanconi anemia [RCV003636071] |
Chr15:89300346 [GRCh38]
Chr15:89843577 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2198C>G (p.Thr733Ser) |
single nucleotide variant |
Fanconi anemia [RCV003522435] |
Chr15:89292970 [GRCh38]
Chr15:89836201 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1141G>A (p.Gly381Ser) |
single nucleotide variant |
Fanconi anemia [RCV003636677] |
Chr15:89276739 [GRCh38]
Chr15:89819970 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2961G>T (p.Thr987=) |
single nucleotide variant |
Fanconi anemia [RCV003635816] |
Chr15:89301397 [GRCh38]
Chr15:89844628 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2889+2T>C |
single nucleotide variant |
Fanconi anemia [RCV003635819] |
Chr15:89300387 [GRCh38]
Chr15:89843618 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.264G>A (p.Glu88=) |
single nucleotide variant |
Fanconi anemia [RCV003635847] |
Chr15:89260819 [GRCh38]
Chr15:89804050 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3822C>T (p.Asn1274=) |
single nucleotide variant |
Fanconi anemia [RCV003635498] |
Chr15:89315287 [GRCh38]
Chr15:89858518 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2532T>C (p.Asn844=) |
single nucleotide variant |
Fanconi anemia [RCV003635502] |
Chr15:89294990 [GRCh38]
Chr15:89838221 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1494G>A (p.Arg498=) |
single nucleotide variant |
Fanconi anemia [RCV003522457] |
Chr15:89281282 [GRCh38]
Chr15:89824513 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3105G>A (p.Leu1035=) |
single nucleotide variant |
Fanconi anemia [RCV003522464] |
Chr15:89305161 [GRCh38]
Chr15:89848392 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter) |
single nucleotide variant |
Fanconi anemia [RCV003522504] |
Chr15:89292829 [GRCh38]
Chr15:89836060 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter) |
single nucleotide variant |
Fanconi anemia [RCV003523729] |
Chr15:89314699 [GRCh38]
Chr15:89857930 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.560C>G (p.Thr187Ser) |
single nucleotide variant |
Fanconi anemia [RCV003635863] |
Chr15:89263917 [GRCh38]
Chr15:89807148 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2459A>G (p.Asp820Gly) |
single nucleotide variant |
Fanconi anemia [RCV003636687] |
Chr15:89294917 [GRCh38]
Chr15:89838148 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2196C>T (p.Ser732=) |
single nucleotide variant |
FANCI-related disorder [RCV004755014]|Fanconi anemia [RCV003636690] |
Chr15:89292968 [GRCh38]
Chr15:89836199 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3528T>C (p.Leu1176=) |
single nucleotide variant |
Fanconi anemia [RCV003813981] |
Chr15:89306185 [GRCh38]
Chr15:89849416 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3630T>C (p.Tyr1210=) |
single nucleotide variant |
Fanconi anemia [RCV003635529] |
Chr15:89307651 [GRCh38]
Chr15:89850882 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3538-19A>G |
single nucleotide variant |
Fanconi anemia [RCV003636188] |
Chr15:89307457 [GRCh38]
Chr15:89850688 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3161A>G (p.His1054Arg) |
single nucleotide variant |
Fanconi anemia [RCV003522520] |
Chr15:89305217 [GRCh38]
Chr15:89848448 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2636+10T>A |
single nucleotide variant |
Fanconi anemia [RCV003523782] |
Chr15:89295104 [GRCh38]
Chr15:89838335 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2274C>T (p.Phe758=) |
single nucleotide variant |
Fanconi anemia [RCV003635892] |
Chr15:89293046 [GRCh38]
Chr15:89836277 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-15_3925-11dup |
duplication |
Fanconi anemia [RCV003636695] |
Chr15:89316380..89316381 [GRCh38]
Chr15:89859611..89859612 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2889+16A>G |
single nucleotide variant |
Fanconi anemia [RCV003636706] |
Chr15:89300401 [GRCh38]
Chr15:89843632 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1908G>A (p.Glu636=) |
single nucleotide variant |
Fanconi anemia [RCV003636100] |
Chr15:89291630 [GRCh38]
Chr15:89834861 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2636+7C>T |
single nucleotide variant |
Fanconi anemia [RCV003635540] |
Chr15:89295101 [GRCh38]
Chr15:89838332 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter) |
single nucleotide variant |
Fanconi anemia [RCV003635546] |
Chr15:89305353 [GRCh38]
Chr15:89848584 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3399T>C (p.Ala1133=) |
single nucleotide variant |
Fanconi anemia [RCV003635558] |
Chr15:89306056 [GRCh38]
Chr15:89849287 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1512+16C>G |
single nucleotide variant |
Fanconi anemia [RCV003635563] |
Chr15:89281316 [GRCh38]
Chr15:89824547 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3187-11C>G |
single nucleotide variant |
Fanconi anemia [RCV003523855] |
Chr15:89305330 [GRCh38]
Chr15:89848561 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3357C>G (p.Ala1119=) |
single nucleotide variant |
Fanconi anemia [RCV003523856] |
Chr15:89306014 [GRCh38]
Chr15:89849245 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1349C>G (p.Thr450Ser) |
single nucleotide variant |
Fanconi anemia [RCV003834379] |
Chr15:89278742 [GRCh38]
Chr15:89821973 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1254A>C (p.Ala418=) |
single nucleotide variant |
Fanconi anemia [RCV003636102] |
Chr15:89276852 [GRCh38]
Chr15:89820083 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.379T>G (p.Leu127Val) |
single nucleotide variant |
Fanconi anemia [RCV003636124] |
Chr15:89261675 [GRCh38]
Chr15:89804906 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.669+7A>G |
single nucleotide variant |
Fanconi anemia [RCV003636125] |
Chr15:89264033 [GRCh38]
Chr15:89807264 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1822-16C>A |
single nucleotide variant |
Fanconi anemia [RCV003636715] |
Chr15:89290197 [GRCh38]
Chr15:89833428 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1266A>G (p.Gly422=) |
single nucleotide variant |
Fanconi anemia [RCV003636191] |
Chr15:89276864 [GRCh38]
Chr15:89820095 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-13_3925-10dup |
duplication |
Fanconi anemia [RCV003635588] |
Chr15:89316380..89316381 [GRCh38]
Chr15:89859611..89859612 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2847C>T (p.Val949=) |
single nucleotide variant |
Fanconi anemia [RCV003636233] |
Chr15:89300343 [GRCh38]
Chr15:89843574 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-17A>C |
single nucleotide variant |
Fanconi anemia [RCV003636194] |
Chr15:89316380 [GRCh38]
Chr15:89859611 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3925-5T>C |
single nucleotide variant |
Fanconi anemia [RCV003636730] |
Chr15:89316392 [GRCh38]
Chr15:89859623 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1185A>G (p.Pro395=) |
single nucleotide variant |
Fanconi anemia [RCV003636733] |
Chr15:89276783 [GRCh38]
Chr15:89820014 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.504-10C>A |
single nucleotide variant |
Fanconi anemia [RCV003636238] |
Chr15:89263409 [GRCh38]
Chr15:89806640 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1112+7del |
deletion |
Fanconi anemia [RCV003635629] |
Chr15:89274310 [GRCh38]
Chr15:89817541 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3924+19C>T |
single nucleotide variant |
Fanconi anemia [RCV003636269] |
Chr15:89315408 [GRCh38]
Chr15:89858639 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3187-13T>G |
single nucleotide variant |
Fanconi anemia [RCV003636296] |
Chr15:89305328 [GRCh38]
Chr15:89848559 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-1G>A |
single nucleotide variant |
Fanconi anemia [RCV003522593] |
Chr15:89258703 [GRCh38]
Chr15:89801934 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3306A>T (p.Leu1102=) |
single nucleotide variant |
Fanconi anemia [RCV003636208] |
Chr15:89305655 [GRCh38]
Chr15:89848886 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.93T>G (p.Asn31Lys) |
single nucleotide variant |
Fanconi anemia [RCV003636282] |
Chr15:89258712 [GRCh38]
Chr15:89801943 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3030A>G (p.Thr1010=) |
single nucleotide variant |
Fanconi anemia [RCV003524064] |
Chr15:89303887 [GRCh38]
Chr15:89847118 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2890-15G>A |
single nucleotide variant |
Fanconi anemia [RCV003636762] |
Chr15:89301311 [GRCh38]
Chr15:89844542 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1293+7C>T |
single nucleotide variant |
Fanconi anemia [RCV003636766] |
Chr15:89276898 [GRCh38]
Chr15:89820129 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2169+1G>A |
single nucleotide variant |
Fanconi anemia [RCV003636767] |
Chr15:89292865 [GRCh38]
Chr15:89836096 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.123A>G (p.Lys41=) |
single nucleotide variant |
Fanconi anemia [RCV003636443] |
Chr15:89258742 [GRCh38]
Chr15:89801973 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.312A>G (p.Leu104=) |
single nucleotide variant |
Fanconi anemia [RCV003636457] |
Chr15:89261608 [GRCh38]
Chr15:89804839 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.777G>T (p.Val259=) |
single nucleotide variant |
Fanconi anemia [RCV003636463]|Fanconi anemia complementation group I [RCV005003704] |
Chr15:89268420 [GRCh38]
Chr15:89811651 [GRCh37]
Chr15:15q26.1 |
likely benign|uncertain significance |
| NM_001113378.2(FANCI):c.501C>G (p.Gly167=) |
single nucleotide variant |
Fanconi anemia [RCV003636486] |
Chr15:89261876 [GRCh38]
Chr15:89805107 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs) |
deletion |
Fanconi anemia [RCV003636417]|Fanconi anemia complementation group I [RCV005013133] |
Chr15:89301381..89301382 [GRCh38]
Chr15:89844612..89844613 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.545+18C>T |
single nucleotide variant |
Fanconi anemia [RCV003636351] |
Chr15:89263478 [GRCh38]
Chr15:89806709 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2222T>C (p.Ile741Thr) |
single nucleotide variant |
Fanconi anemia [RCV003636354] |
Chr15:89292994 [GRCh38]
Chr15:89836225 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.446-7T>C |
single nucleotide variant |
Fanconi anemia [RCV003522895] |
Chr15:89261814 [GRCh38]
Chr15:89805045 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2292-12T>C |
single nucleotide variant |
Fanconi anemia [RCV003522900] |
Chr15:89293821 [GRCh38]
Chr15:89837052 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3354G>C (p.Glu1118Asp) |
single nucleotide variant |
Fanconi anemia [RCV003636428] |
Chr15:89306011 [GRCh38]
Chr15:89849242 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3790C>T (p.Leu1264Phe) |
single nucleotide variant |
Fanconi anemia [RCV003636789] |
Chr15:89314681 [GRCh38]
Chr15:89857912 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.757C>A (p.Leu253Ile) |
single nucleotide variant |
Fanconi anemia [RCV003636515] |
Chr15:89268400 [GRCh38]
Chr15:89811631 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2747T>G (p.Phe916Cys) |
single nucleotide variant |
Fanconi anemia [RCV003636529] |
Chr15:89299910 [GRCh38]
Chr15:89843141 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3311C>G (p.Thr1104Ser) |
single nucleotide variant |
Fanconi anemia [RCV003636519] |
Chr15:89305660 [GRCh38]
Chr15:89848891 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3615G>C (p.Leu1205=) |
single nucleotide variant |
Fanconi anemia [RCV003635706] |
Chr15:89307636 [GRCh38]
Chr15:89850867 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1410A>T (p.Ala470=) |
single nucleotide variant |
Fanconi anemia [RCV003636585] |
Chr15:89281198 [GRCh38]
Chr15:89824429 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2330G>A (p.Cys777Tyr) |
single nucleotide variant |
Fanconi anemia [RCV003636916] |
Chr15:89293871 [GRCh38]
Chr15:89837102 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1978_1979del (p.Leu660fs) |
microsatellite |
Fanconi anemia [RCV003636534] |
Chr15:89291695..89291696 [GRCh38]
Chr15:89834926..89834927 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3720+11G>A |
single nucleotide variant |
Fanconi anemia [RCV003636461] |
Chr15:89312983 [GRCh38]
Chr15:89856214 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2340del (p.Lys780fs) |
deletion |
Fanconi anemia [RCV003636518]|Fanconi anemia complementation group I [RCV004573262] |
Chr15:89293876 [GRCh38]
Chr15:89837107 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1962A>C (p.Gln654His) |
single nucleotide variant |
Fanconi anemia [RCV003637043] |
Chr15:89291684 [GRCh38]
Chr15:89834915 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3264T>A (p.Val1088=) |
single nucleotide variant |
Fanconi anemia [RCV003635585] |
Chr15:89305613 [GRCh38]
Chr15:89848844 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2520C>A (p.Arg840=) |
single nucleotide variant |
Fanconi anemia [RCV003524139] |
Chr15:89294978 [GRCh38]
Chr15:89838209 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1452T>C (p.Ala484=) |
single nucleotide variant |
Fanconi anemia [RCV003524148] |
Chr15:89281240 [GRCh38]
Chr15:89824471 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1123T>C (p.Trp375Arg) |
single nucleotide variant |
Fanconi anemia [RCV003849696] |
Chr15:89276721 [GRCh38]
Chr15:89819952 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3652-16G>A |
single nucleotide variant |
Fanconi anemia [RCV003635538] |
Chr15:89312888 [GRCh38]
Chr15:89856119 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1011C>T (p.Ser337=) |
single nucleotide variant |
Fanconi anemia [RCV003635554] |
Chr15:89274203 [GRCh38]
Chr15:89817434 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3924+16T>C |
single nucleotide variant |
Fanconi anemia [RCV003635733] |
Chr15:89315405 [GRCh38]
Chr15:89858636 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.504-7C>T |
single nucleotide variant |
Fanconi anemia [RCV003635743] |
Chr15:89263412 [GRCh38]
Chr15:89806643 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1699-16C>T |
single nucleotide variant |
Fanconi anemia [RCV003522449] |
Chr15:89285080 [GRCh38]
Chr15:89828311 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1993-15T>C |
single nucleotide variant |
Fanconi anemia [RCV003635693] |
Chr15:89292673 [GRCh38]
Chr15:89835904 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1891-10C>A |
single nucleotide variant |
Fanconi anemia [RCV003635696] |
Chr15:89291603 [GRCh38]
Chr15:89834834 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3333C>T (p.Ser1111=) |
single nucleotide variant |
Fanconi anemia [RCV003524335] |
Chr15:89305682 [GRCh38]
Chr15:89848913 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3592-6G>T |
single nucleotide variant |
Fanconi anemia [RCV003523801] |
Chr15:89307607 [GRCh38]
Chr15:89850838 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.103A>G (p.Asn35Asp) |
single nucleotide variant |
Fanconi anemia [RCV003523804] |
Chr15:89258722 [GRCh38]
Chr15:89801953 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_002693.3(POLG):c.3713G>C (p.Gly1238Ala) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003837821] |
Chr15:89316758 [GRCh38]
Chr15:89859989 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.670-11A>G |
single nucleotide variant |
Fanconi anemia [RCV003523272] |
Chr15:89264511 [GRCh38]
Chr15:89807742 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1112+13_1112+14insAGATATGAA |
insertion |
Fanconi anemia [RCV003523249] |
Chr15:89274313..89274314 [GRCh38]
Chr15:89817544..89817545 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1822-6T>C |
single nucleotide variant |
Fanconi anemia [RCV003523248] |
Chr15:89290207 [GRCh38]
Chr15:89833438 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1381+8A>G |
single nucleotide variant |
Fanconi anemia [RCV003522628] |
Chr15:89278782 [GRCh38]
Chr15:89822013 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3600G>A (p.Leu1200=) |
single nucleotide variant |
Fanconi anemia [RCV003523925] |
Chr15:89307621 [GRCh38]
Chr15:89850852 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1891-14C>G |
single nucleotide variant |
Fanconi anemia [RCV003524442] |
Chr15:89291599 [GRCh38]
Chr15:89834830 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2292-1G>T |
single nucleotide variant |
Fanconi anemia [RCV003522681] |
Chr15:89293832 [GRCh38]
Chr15:89837063 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2583C>A (p.Gly861=) |
single nucleotide variant |
Fanconi anemia [RCV003522710] |
Chr15:89295041 [GRCh38]
Chr15:89838272 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3516A>G (p.Thr1172=) |
single nucleotide variant |
Fanconi anemia [RCV003522604] |
Chr15:89306173 [GRCh38]
Chr15:89849404 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3817-13A>C |
single nucleotide variant |
Fanconi anemia [RCV003522127] |
Chr15:89315269 [GRCh38]
Chr15:89858500 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2637-19C>T |
single nucleotide variant |
Fanconi anemia [RCV003850595] |
Chr15:89299781 [GRCh38]
Chr15:89843012 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter) |
single nucleotide variant |
Fanconi anemia [RCV003635583] |
Chr15:89268521 [GRCh38]
Chr15:89811752 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter) |
single nucleotide variant |
Fanconi anemia [RCV003635587] |
Chr15:89290243 [GRCh38]
Chr15:89833474 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1149A>G (p.Val383=) |
single nucleotide variant |
Fanconi anemia [RCV003522166] |
Chr15:89276747 [GRCh38]
Chr15:89819978 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1891-4A>G |
single nucleotide variant |
Fanconi anemia [RCV003523489] |
Chr15:89291609 [GRCh38]
Chr15:89834840 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1698+1G>A |
single nucleotide variant |
Fanconi anemia [RCV003522813]|Fanconi anemia complementation group I [RCV004574134] |
Chr15:89283251 [GRCh38]
Chr15:89826482 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1908_1909delinsAG (p.Pro637Ala) |
indel |
Fanconi anemia [RCV003635589] |
Chr15:89291630..89291631 [GRCh38]
Chr15:89834861..89834862 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3817-8T>G |
single nucleotide variant |
Fanconi anemia [RCV003635591] |
Chr15:89315274 [GRCh38]
Chr15:89858505 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3007-1G>A |
single nucleotide variant |
Fanconi anemia [RCV003522279] |
Chr15:89303863 [GRCh38]
Chr15:89847094 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2804-5C>G |
single nucleotide variant |
Fanconi anemia [RCV003522412] |
Chr15:89300295 [GRCh38]
Chr15:89843526 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3543C>G (p.Leu1181=) |
single nucleotide variant |
Fanconi anemia [RCV003522414] |
Chr15:89307481 [GRCh38]
Chr15:89850712 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1890+19G>T |
single nucleotide variant |
Fanconi anemia [RCV003522427] |
Chr15:89290300 [GRCh38]
Chr15:89833531 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-13T>C |
single nucleotide variant |
Fanconi anemia [RCV003524216] |
Chr15:89258691 [GRCh38]
Chr15:89801922 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2004G>T (p.Leu668=) |
single nucleotide variant |
Fanconi anemia [RCV003815957] |
Chr15:89292699 [GRCh38]
Chr15:89835930 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3058+8T>C |
single nucleotide variant |
Fanconi anemia [RCV003635780] |
Chr15:89303923 [GRCh38]
Chr15:89847154 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter) |
single nucleotide variant |
Fanconi anemia [RCV003522381] |
Chr15:89260799 [GRCh38]
Chr15:89804030 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3652-12C>A |
single nucleotide variant |
Fanconi anemia [RCV003522442] |
Chr15:89312892 [GRCh38]
Chr15:89856123 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3006+7G>A |
single nucleotide variant |
Fanconi anemia [RCV003524249] |
Chr15:89301449 [GRCh38]
Chr15:89844680 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1059A>C (p.Leu353=) |
single nucleotide variant |
Fanconi anemia [RCV003523796] |
Chr15:89274251 [GRCh38]
Chr15:89817482 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1512+20A>C |
single nucleotide variant |
Fanconi anemia [RCV003523243] |
Chr15:89281320 [GRCh38]
Chr15:89824551 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.158-9A>T |
single nucleotide variant |
Fanconi anemia [RCV003524356] |
Chr15:89260704 [GRCh38]
Chr15:89803935 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3538-6dup |
duplication |
Fanconi anemia [RCV003835963] |
Chr15:89307463..89307464 [GRCh38]
Chr15:89850694..89850695 [GRCh37]
Chr15:15q26.1 |
benign |
| NM_001113378.2(FANCI):c.894A>G (p.Gln298=) |
single nucleotide variant |
Fanconi anemia [RCV003854947] |
Chr15:89273388 [GRCh38]
Chr15:89816619 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1354G>A (p.Ala452Thr) |
single nucleotide variant |
Fanconi anemia [RCV003635439] |
Chr15:89278747 [GRCh38]
Chr15:89821978 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1656C>A (p.Ser552Arg) |
single nucleotide variant |
Fanconi anemia [RCV003810835] |
Chr15:89283208 [GRCh38]
Chr15:89826439 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter) |
single nucleotide variant |
Fanconi anemia [RCV003524435] |
Chr15:89274297 [GRCh38]
Chr15:89817528 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.669+15T>C |
single nucleotide variant |
Fanconi anemia [RCV003522675] |
Chr15:89264041 [GRCh38]
Chr15:89807272 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2291+10T>C |
single nucleotide variant |
Fanconi anemia [RCV003524515] |
Chr15:89293073 [GRCh38]
Chr15:89836304 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.975+19A>G |
single nucleotide variant |
Fanconi anemia [RCV003635414] |
Chr15:89273488 [GRCh38]
Chr15:89816719 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-12G>A |
single nucleotide variant |
Fanconi anemia [RCV003635678] |
Chr15:89294903 [GRCh38]
Chr15:89838134 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.446-20A>G |
single nucleotide variant |
Fanconi anemia [RCV003635682] |
Chr15:89261801 [GRCh38]
Chr15:89805032 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3187-14C>A |
single nucleotide variant |
Fanconi anemia [RCV003523896] |
Chr15:89305327 [GRCh38]
Chr15:89848558 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3817-11T>C |
single nucleotide variant |
Fanconi anemia [RCV003523979] |
Chr15:89315271 [GRCh38]
Chr15:89858502 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3075C>T (p.Cys1025=) |
single nucleotide variant |
Fanconi anemia [RCV003523516] |
Chr15:89305131 [GRCh38]
Chr15:89848362 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3288A>T (p.Leu1096=) |
single nucleotide variant |
Fanconi anemia [RCV003523530] |
Chr15:89305637 [GRCh38]
Chr15:89848868 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.446-10G>A |
single nucleotide variant |
Fanconi anemia [RCV003635485] |
Chr15:89261811 [GRCh38]
Chr15:89805042 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.508del (p.Asp170fs) |
deletion |
Fanconi anemia [RCV003635644] |
Chr15:89263421 [GRCh38]
Chr15:89806652 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2961G>A (p.Thr987=) |
single nucleotide variant |
Fanconi anemia [RCV003635677] |
Chr15:89301397 [GRCh38]
Chr15:89844628 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.483dup (p.Asn162Ter) |
duplication |
Fanconi anemia [RCV003524020] |
Chr15:89261856..89261857 [GRCh38]
Chr15:89805087..89805088 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.183A>G (p.Gly61=) |
single nucleotide variant |
Fanconi anemia [RCV003523608] |
Chr15:89260738 [GRCh38]
Chr15:89803969 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.84+17A>G |
single nucleotide variant |
Fanconi anemia [RCV003635495] |
Chr15:89247748 [GRCh38]
Chr15:89790979 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.51G>T (p.Leu17=) |
single nucleotide variant |
Fanconi anemia [RCV003635712] |
Chr15:89247698 [GRCh38]
Chr15:89790929 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2961G>C (p.Thr987=) |
single nucleotide variant |
Fanconi anemia [RCV003861453] |
Chr15:89301397 [GRCh38]
Chr15:89844628 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.882+15G>C |
single nucleotide variant |
Fanconi anemia [RCV003637507] |
Chr15:89268540 [GRCh38]
Chr15:89811771 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.445+11T>G |
single nucleotide variant |
Fanconi anemia [RCV003637559] |
Chr15:89261752 [GRCh38]
Chr15:89804983 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1293+2T>G |
single nucleotide variant |
Fanconi anemia [RCV003637877] |
Chr15:89276893 [GRCh38]
Chr15:89820124 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1584-15C>T |
single nucleotide variant |
Fanconi anemia [RCV003859120] |
Chr15:89283121 [GRCh38]
Chr15:89826352 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3058+15A>G |
single nucleotide variant |
Fanconi anemia [RCV003637605] |
Chr15:89303930 [GRCh38]
Chr15:89847161 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.670-18A>G |
single nucleotide variant |
Fanconi anemia [RCV003637617] |
Chr15:89264504 [GRCh38]
Chr15:89807735 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2400A>G (p.Thr800=) |
single nucleotide variant |
Fanconi anemia [RCV003637730] |
Chr15:89293941 [GRCh38]
Chr15:89837172 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.441A>G (p.Gly147=) |
single nucleotide variant |
Fanconi anemia [RCV003637739] |
Chr15:89261737 [GRCh38]
Chr15:89804968 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1113-20T>C |
single nucleotide variant |
Fanconi anemia [RCV003637834] |
Chr15:89276691 [GRCh38]
Chr15:89819922 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-8_85-7del |
deletion |
Fanconi anemia [RCV003637725] |
Chr15:89258695..89258696 [GRCh38]
Chr15:89801926..89801927 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1112+14C>G |
single nucleotide variant |
Fanconi anemia [RCV003862221] |
Chr15:89274318 [GRCh38]
Chr15:89817549 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3486G>A (p.Leu1162=) |
single nucleotide variant |
Fanconi anemia [RCV003865032] |
Chr15:89306143 [GRCh38]
Chr15:89849374 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3591+13del |
deletion |
Fanconi anemia [RCV003637843] |
Chr15:89307542 [GRCh38]
Chr15:89850773 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2636+9C>T |
single nucleotide variant |
Fanconi anemia [RCV003858737] |
Chr15:89295103 [GRCh38]
Chr15:89838334 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3006+1G>A |
single nucleotide variant |
Fanconi anemia [RCV003637912] |
Chr15:89301443 [GRCh38]
Chr15:89844674 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1203A>T (p.Gly401=) |
single nucleotide variant |
Fanconi anemia [RCV003637924] |
Chr15:89276801 [GRCh38]
Chr15:89820032 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.609C>A (p.Ser203=) |
single nucleotide variant |
Fanconi anemia [RCV003637929] |
Chr15:89263966 [GRCh38]
Chr15:89807197 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.157+19A>T |
single nucleotide variant |
Fanconi anemia [RCV003858525] |
Chr15:89258795 [GRCh38]
Chr15:89802026 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2724C>T (p.Cys908=) |
single nucleotide variant |
Fanconi anemia [RCV003637519] |
Chr15:89299887 [GRCh38]
Chr15:89843118 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2496C>T (p.Leu832=) |
single nucleotide variant |
Fanconi anemia [RCV003637536] |
Chr15:89294954 [GRCh38]
Chr15:89838185 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.937C>G (p.Leu313Val) |
single nucleotide variant |
Fanconi anemia [RCV003637982] |
Chr15:89273431 [GRCh38]
Chr15:89816662 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1275C>T (p.Ile425=) |
single nucleotide variant |
Fanconi anemia [RCV003638024] |
Chr15:89276873 [GRCh38]
Chr15:89820104 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.241T>C (p.Leu81=) |
single nucleotide variant |
Fanconi anemia [RCV003638037] |
Chr15:89260796 [GRCh38]
Chr15:89804027 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2169+2T>C |
single nucleotide variant |
Fanconi anemia [RCV003637615] |
Chr15:89292866 [GRCh38]
Chr15:89836097 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1293+11A>G |
single nucleotide variant |
Fanconi anemia [RCV003843908] |
Chr15:89276902 [GRCh38]
Chr15:89820133 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2636+9C>A |
single nucleotide variant |
Fanconi anemia [RCV003637724] |
Chr15:89295103 [GRCh38]
Chr15:89838334 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2637-12C>G |
single nucleotide variant |
Fanconi anemia [RCV003637881] |
Chr15:89299788 [GRCh38]
Chr15:89843019 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3024C>T (p.Ser1008=) |
single nucleotide variant |
Fanconi anemia [RCV003637906] |
Chr15:89303881 [GRCh38]
Chr15:89847112 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1381+21_1381+24del |
microsatellite |
Fanconi anemia [RCV003822829] |
Chr15:89278791..89278794 [GRCh38]
Chr15:89822022..89822025 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.176A>T (p.Glu59Val) |
single nucleotide variant |
Fanconi anemia [RCV003861754] |
Chr15:89260731 [GRCh38]
Chr15:89803962 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2457-16C>G |
single nucleotide variant |
Fanconi anemia [RCV003637999] |
Chr15:89294899 [GRCh38]
Chr15:89838130 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3795C>A (p.Ile1265=) |
single nucleotide variant |
Fanconi anemia [RCV003638032] |
Chr15:89314686 [GRCh38]
Chr15:89857917 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3438C>T (p.His1146=) |
single nucleotide variant |
Fanconi anemia [RCV003638073] |
Chr15:89306095 [GRCh38]
Chr15:89849326 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2169+18A>G |
single nucleotide variant |
Fanconi anemia [RCV003862013] |
Chr15:89292882 [GRCh38]
Chr15:89836113 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter) |
single nucleotide variant |
Fanconi anemia [RCV003637738] |
Chr15:89264591 [GRCh38]
Chr15:89807822 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3187-16C>T |
single nucleotide variant |
Fanconi anemia [RCV003637930] |
Chr15:89305325 [GRCh38]
Chr15:89848556 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1101A>G (p.Val367=) |
single nucleotide variant |
Fanconi anemia [RCV003637750] |
Chr15:89274293 [GRCh38]
Chr15:89817524 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2457-20C>G |
single nucleotide variant |
Fanconi anemia [RCV003637711] |
Chr15:89294895 [GRCh38]
Chr15:89838126 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter) |
single nucleotide variant |
Fanconi anemia [RCV003847322] |
Chr15:89292757 [GRCh38]
Chr15:89835988 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1993-7C>T |
single nucleotide variant |
Fanconi anemia [RCV003637496] |
Chr15:89292681 [GRCh38]
Chr15:89835912 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3753T>G (p.Pro1251=) |
single nucleotide variant |
Fanconi anemia [RCV003870712] |
Chr15:89314644 [GRCh38]
Chr15:89857875 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2658T>C (p.Thr886=) |
single nucleotide variant |
Fanconi anemia [RCV003637426] |
Chr15:89299821 [GRCh38]
Chr15:89843052 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2833_2834del (p.Glu945fs) |
microsatellite |
Fanconi anemia [RCV003637427] |
Chr15:89300322..89300323 [GRCh38]
Chr15:89843553..89843554 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1513-9C>A |
single nucleotide variant |
Fanconi anemia [RCV003843223] |
Chr15:89281756 [GRCh38]
Chr15:89824987 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1854G>T (p.Gln618His) |
single nucleotide variant |
Fanconi anemia [RCV003637524] |
Chr15:89290245 [GRCh38]
Chr15:89833476 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3651+14A>G |
single nucleotide variant |
Fanconi anemia [RCV003843397] |
Chr15:89307686 [GRCh38]
Chr15:89850917 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2960C>G (p.Thr987Arg) |
single nucleotide variant |
Fanconi anemia [RCV003871226] |
Chr15:89301396 [GRCh38]
Chr15:89844627 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1891-8A>G |
single nucleotide variant |
Fanconi anemia [RCV003868009] |
Chr15:89291605 [GRCh38]
Chr15:89834836 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.85-22_85-15del |
deletion |
Fanconi anemia [RCV003637844] |
Chr15:89258680..89258687 [GRCh38]
Chr15:89801911..89801918 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1583+9C>T |
single nucleotide variant |
Fanconi anemia [RCV003638102] |
Chr15:89281844 [GRCh38]
Chr15:89825075 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.620T>A (p.Leu207His) |
single nucleotide variant |
Fanconi anemia [RCV003871792] |
Chr15:89263977 [GRCh38]
Chr15:89807208 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.867C>T (p.Leu289=) |
single nucleotide variant |
Fanconi anemia [RCV003823540] |
Chr15:89268510 [GRCh38]
Chr15:89811741 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1583+10A>G |
single nucleotide variant |
Fanconi anemia [RCV003823554] |
Chr15:89281845 [GRCh38]
Chr15:89825076 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3840G>A (p.Lys1280=) |
single nucleotide variant |
Fanconi anemia [RCV003871842] |
Chr15:89315305 [GRCh38]
Chr15:89858536 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.739del (p.Glu247fs) |
deletion |
Fanconi anemia [RCV003819002]|Fanconi anemia complementation group I [RCV004573342] |
Chr15:89264590 [GRCh38]
Chr15:89807821 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.2568A>G (p.Thr856=) |
single nucleotide variant |
Fanconi anemia [RCV003859237] |
Chr15:89295026 [GRCh38]
Chr15:89838257 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3720+20C>A |
single nucleotide variant |
Fanconi anemia [RCV003872122] |
Chr15:89312992 [GRCh38]
Chr15:89856223 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2637-16C>T |
single nucleotide variant |
Fanconi anemia [RCV003872275] |
Chr15:89299784 [GRCh38]
Chr15:89843015 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2953C>G (p.Leu985Val) |
single nucleotide variant |
Fanconi anemia [RCV003870282] |
Chr15:89301389 [GRCh38]
Chr15:89844620 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.669+18T>C |
single nucleotide variant |
Fanconi anemia [RCV003869155] |
Chr15:89264044 [GRCh38]
Chr15:89807275 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.84+2_84+3del |
microsatellite |
Fanconi anemia [RCV003842974] |
Chr15:89247731..89247732 [GRCh38]
Chr15:89790962..89790963 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.483T>A (p.Ile161=) |
single nucleotide variant |
Fanconi anemia [RCV003859343] |
Chr15:89261858 [GRCh38]
Chr15:89805089 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1381+12T>C |
single nucleotide variant |
Fanconi anemia [RCV003844507] |
Chr15:89278786 [GRCh38]
Chr15:89822017 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3592-20C>T |
single nucleotide variant |
Fanconi anemia [RCV003868464] |
Chr15:89307593 [GRCh38]
Chr15:89850824 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3721-20C>T |
single nucleotide variant |
Fanconi anemia [RCV003637449] |
Chr15:89314592 [GRCh38]
Chr15:89857823 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3563G>C (p.Gly1188Ala) |
single nucleotide variant |
Fanconi anemia [RCV003637485] |
Chr15:89307501 [GRCh38]
Chr15:89850732 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2457-10C>G |
single nucleotide variant |
Fanconi anemia [RCV003856945] |
Chr15:89294905 [GRCh38]
Chr15:89838136 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3849C>T (p.Thr1283=) |
single nucleotide variant |
Fanconi anemia [RCV003637492] |
Chr15:89315314 [GRCh38]
Chr15:89858545 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter) |
single nucleotide variant |
Fanconi anemia [RCV003637504] |
Chr15:89294934 [GRCh38]
Chr15:89838165 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.294C>T (p.His98=) |
single nucleotide variant |
Fanconi anemia [RCV003637523] |
Chr15:89261590 [GRCh38]
Chr15:89804821 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2703A>G (p.Gly901=) |
single nucleotide variant |
Fanconi anemia [RCV003865405] |
Chr15:89299866 [GRCh38]
Chr15:89843097 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1992+12A>G |
single nucleotide variant |
Fanconi anemia [RCV003637600] |
Chr15:89291726 [GRCh38]
Chr15:89834957 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.777G>A (p.Val259=) |
single nucleotide variant |
Fanconi anemia [RCV003858185] |
Chr15:89268420 [GRCh38]
Chr15:89811651 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.870G>C (p.Val290=) |
single nucleotide variant |
Fanconi anemia [RCV003869502] |
Chr15:89268513 [GRCh38]
Chr15:89811744 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2302T>G (p.Phe768Val) |
single nucleotide variant |
Fanconi anemia [RCV003637788] |
Chr15:89293843 [GRCh38]
Chr15:89837074 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3591+15C>G |
single nucleotide variant |
Fanconi anemia [RCV003858350] |
Chr15:89307544 [GRCh38]
Chr15:89850775 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2324_2327del (p.Phe775fs) |
microsatellite |
Fanconi anemia [RCV003637846] |
Chr15:89293861..89293864 [GRCh38]
Chr15:89837092..89837095 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3651+12A>G |
single nucleotide variant |
Fanconi anemia [RCV003637862] |
Chr15:89307684 [GRCh38]
Chr15:89850915 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2364A>G (p.Lys788=) |
single nucleotide variant |
Fanconi anemia [RCV003638047] |
Chr15:89293905 [GRCh38]
Chr15:89837136 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.157+16G>C |
single nucleotide variant |
Fanconi anemia [RCV003867730] |
Chr15:89258792 [GRCh38]
Chr15:89802023 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1822-8C>G |
single nucleotide variant |
Fanconi anemia [RCV003638061] |
Chr15:89290205 [GRCh38]
Chr15:89833436 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3693G>A (p.Leu1231=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV003821506] |
Chr15:89316778 [GRCh38]
Chr15:89860009 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3670A>G (p.Asn1224Asp) |
single nucleotide variant |
Fanconi anemia [RCV003870285] |
Chr15:89312922 [GRCh38]
Chr15:89856153 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter) |
single nucleotide variant |
Fanconi anemia [RCV003864651] |
Chr15:89295072 [GRCh38]
Chr15:89838303 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.504-12T>C |
single nucleotide variant |
Fanconi anemia [RCV003848312] |
Chr15:89263407 [GRCh38]
Chr15:89806638 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3187-12T>C |
single nucleotide variant |
Fanconi anemia [RCV003857878] |
Chr15:89305329 [GRCh38]
Chr15:89848560 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.3644-9_3644-8del |
deletion |
Progressive sclerosing poliodystrophy [RCV003857882] |
Chr15:89316835..89316836 [GRCh38]
Chr15:89860066..89860067 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3652-11T>C |
single nucleotide variant |
Fanconi anemia [RCV003637464] |
Chr15:89312893 [GRCh38]
Chr15:89856124 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1488A>G (p.Val496=) |
single nucleotide variant |
Fanconi anemia [RCV003637487] |
Chr15:89281276 [GRCh38]
Chr15:89824507 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.336T>C (p.Phe112=) |
single nucleotide variant |
Fanconi anemia [RCV003637489] |
Chr15:89261632 [GRCh38]
Chr15:89804863 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1008G>A (p.Lys336=) |
single nucleotide variant |
Fanconi anemia [RCV003637539] |
Chr15:89274200 [GRCh38]
Chr15:89817431 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.9G>C (p.Gln3His) |
single nucleotide variant |
Fanconi anemia [RCV003637544] |
Chr15:89247656 [GRCh38]
Chr15:89790887 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2175A>G (p.Lys725=) |
single nucleotide variant |
Fanconi anemia [RCV003637512] |
Chr15:89292947 [GRCh38]
Chr15:89836178 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3324A>G (p.Gly1108=) |
single nucleotide variant |
Fanconi anemia [RCV003818288] |
Chr15:89305673 [GRCh38]
Chr15:89848904 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.289-15C>T |
single nucleotide variant |
Fanconi anemia [RCV003637501] |
Chr15:89261570 [GRCh38]
Chr15:89804801 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2611T>C (p.Phe871Leu) |
single nucleotide variant |
Fanconi anemia [RCV003637602] |
Chr15:89295069 [GRCh38]
Chr15:89838300 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1816del (p.Tyr606fs) |
deletion |
Fanconi anemia [RCV003637634] |
Chr15:89285211 [GRCh38]
Chr15:89828442 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1254A>G (p.Ala418=) |
single nucleotide variant |
Fanconi anemia [RCV003637596] |
Chr15:89276852 [GRCh38]
Chr15:89820083 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2169+9T>G |
single nucleotide variant |
Fanconi anemia [RCV003637629] |
Chr15:89292873 [GRCh38]
Chr15:89836104 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1312_1313del (p.Gln438fs) |
deletion |
Fanconi anemia [RCV003818239]|Fanconi anemia complementation group I [RCV005013202] |
Chr15:89278704..89278705 [GRCh38]
Chr15:89821935..89821936 [GRCh37]
Chr15:15q26.1 |
pathogenic|likely pathogenic |
| NM_001113378.2(FANCI):c.1278G>C (p.Leu426=) |
single nucleotide variant |
Fanconi anemia [RCV003840831] |
Chr15:89276876 [GRCh38]
Chr15:89820107 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.545+9C>T |
single nucleotide variant |
Fanconi anemia [RCV003845009] |
Chr15:89263469 [GRCh38]
Chr15:89806700 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1583+15T>C |
single nucleotide variant |
Fanconi anemia [RCV003637685] |
Chr15:89281850 [GRCh38]
Chr15:89825081 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.975+20T>C |
single nucleotide variant |
Fanconi anemia [RCV003637756] |
Chr15:89273489 [GRCh38]
Chr15:89816720 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1822-16C>T |
single nucleotide variant |
Fanconi anemia [RCV003637779] |
Chr15:89290197 [GRCh38]
Chr15:89833428 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1944A>G (p.Glu648=) |
single nucleotide variant |
Fanconi anemia [RCV003857187] |
Chr15:89291666 [GRCh38]
Chr15:89834897 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3183C>T (p.Asp1061=) |
single nucleotide variant |
Fanconi anemia [RCV003846610] |
Chr15:89305239 [GRCh38]
Chr15:89848470 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1669C>A (p.Gln557Lys) |
single nucleotide variant |
Fanconi anemia [RCV003637817] |
Chr15:89283221 [GRCh38]
Chr15:89826452 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2456+12C>G |
single nucleotide variant |
Fanconi anemia [RCV003637951] |
Chr15:89294009 [GRCh38]
Chr15:89837240 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1182G>A (p.Gly394=) |
single nucleotide variant |
Fanconi anemia [RCV003637961] |
Chr15:89276780 [GRCh38]
Chr15:89820011 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.840A>G (p.Lys280=) |
single nucleotide variant |
Fanconi anemia [RCV003637979] |
Chr15:89268483 [GRCh38]
Chr15:89811714 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.438T>C (p.Tyr146=) |
single nucleotide variant |
Fanconi anemia [RCV003637989] |
Chr15:89261734 [GRCh38]
Chr15:89804965 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.490C>T (p.Leu164=) |
single nucleotide variant |
Fanconi anemia [RCV003637941] |
Chr15:89261865 [GRCh38]
Chr15:89805096 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1777A>C (p.Arg593=) |
single nucleotide variant |
Fanconi anemia [RCV003638046] |
Chr15:89285174 [GRCh38]
Chr15:89828405 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1119T>C (p.His373=) |
single nucleotide variant |
Fanconi anemia [RCV003858768]|not provided [RCV003885388] |
Chr15:89276717 [GRCh38]
Chr15:89819948 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2637-1G>C |
single nucleotide variant |
Fanconi anemia [RCV003853996] |
Chr15:89299799 [GRCh38]
Chr15:89843030 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr) |
single nucleotide variant |
Fanconi anemia [RCV003637831] |
Chr15:89316449 [GRCh38]
Chr15:89859680 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2900del (p.Leu966_Leu967insTer) |
deletion |
Fanconi anemia [RCV003638071] |
Chr15:89301335 [GRCh38]
Chr15:89844566 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.1986dup (p.Pro663fs) |
duplication |
Fanconi anemia [RCV003842250] |
Chr15:89291706..89291707 [GRCh38]
Chr15:89834937..89834938 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2078A>G (p.Glu693Gly) |
single nucleotide variant |
Fanconi anemia [RCV003638117] |
Chr15:89292773 [GRCh38]
Chr15:89836004 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.158-19C>T |
single nucleotide variant |
Fanconi anemia [RCV003844902] |
Chr15:89260694 [GRCh38]
Chr15:89803925 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1583+16T>G |
single nucleotide variant |
Fanconi anemia [RCV003866519] |
Chr15:89281851 [GRCh38]
Chr15:89825082 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3817-8T>C |
single nucleotide variant |
Fanconi anemia [RCV003845050] |
Chr15:89315274 [GRCh38]
Chr15:89858505 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.2658T>G (p.Thr886=) |
single nucleotide variant |
Fanconi anemia [RCV003818995] |
Chr15:89299821 [GRCh38]
Chr15:89843052 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_002693.3(POLG):c.*42C>T |
single nucleotide variant |
POLG-related disorder [RCV003985940] |
Chr15:89316709 [GRCh38]
Chr15:89859940 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1583+4T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003988813] |
Chr15:89281839 [GRCh38]
Chr15:89825070 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1059A>T (p.Leu353=) |
single nucleotide variant |
FANCI-related disorder [RCV003941995] |
Chr15:89274251 [GRCh38]
Chr15:89817482 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3006+6A>C |
single nucleotide variant |
FANCI-related disorder [RCV003962140] |
Chr15:89301448 [GRCh38]
Chr15:89844679 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.-2C>A |
single nucleotide variant |
FANCI-related disorder [RCV003966881] |
Chr15:89247646 [GRCh38]
Chr15:89790877 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.1381+9C>T |
single nucleotide variant |
FANCI-related disorder [RCV003977122] |
Chr15:89278783 [GRCh38]
Chr15:89822014 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.3645C>G (p.Tyr1215Ter) |
single nucleotide variant |
FANCI-related disorder [RCV003899683]|Fanconi anemia complementation group I [RCV004573418] |
Chr15:89307666 [GRCh38]
Chr15:89850897 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1555C>G (p.Leu519Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004383733] |
Chr15:89281807 [GRCh38]
Chr15:89825038 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1630C>G (p.Leu544Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003754]|Inborn genetic diseases [RCV004383734] |
Chr15:89283182 [GRCh38]
Chr15:89826413 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.284T>C (p.Leu95Pro) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005006368]|Inborn genetic diseases [RCV004383738] |
Chr15:89260839 [GRCh38]
Chr15:89804070 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3777G>C (p.Gln1259His) |
single nucleotide variant |
Inborn genetic diseases [RCV004383742] |
Chr15:89314668 [GRCh38]
Chr15:89857899 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3578dup (p.Asn1193fs) |
duplication |
Fanconi anemia complementation group I [RCV004576582] |
Chr15:89307510..89307511 [GRCh38]
Chr15:89850741..89850742 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3492_3493delinsT (p.Lys1164fs) |
indel |
Fanconi anemia complementation group I [RCV004576586] |
Chr15:89306149..89306150 [GRCh38]
Chr15:89849380..89849381 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.3805A>T (p.Lys1269Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV004576589] |
Chr15:89314696 [GRCh38]
Chr15:89857927 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2907_2908del (p.Leu969fs) |
deletion |
Fanconi anemia complementation group I [RCV004576590] |
Chr15:89301343..89301344 [GRCh38]
Chr15:89844574..89844575 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3829C>T (p.Gln1277Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV004576591] |
Chr15:89315294 [GRCh38]
Chr15:89858525 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.289-2A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV004576592] |
Chr15:89261583 [GRCh38]
Chr15:89804814 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_002693.3(POLG):c.3658A>G (p.Ile1220Val) |
single nucleotide variant |
not provided [RCV004590672] |
Chr15:89316813 [GRCh38]
Chr15:89860044 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1055del (p.Asn352fs) |
deletion |
Fanconi anemia complementation group I [RCV004576581] |
Chr15:89274246 [GRCh38]
Chr15:89817477 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.25G>T (p.Ala9Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004383737] |
Chr15:89247672 [GRCh38]
Chr15:89790903 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3652A>T (p.Asn1218Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004383741] |
Chr15:89312904 [GRCh38]
Chr15:89856135 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3688_3689del (p.Lys1230fs) |
deletion |
Fanconi anemia complementation group I [RCV004576580] |
Chr15:89312937..89312938 [GRCh38]
Chr15:89856168..89856169 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.701_702del (p.Ile234fs) |
deletion |
Fanconi anemia complementation group I [RCV004576584] |
Chr15:89264552..89264553 [GRCh38]
Chr15:89807783..89807784 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.165del (p.Cys56fs) |
deletion |
Fanconi anemia complementation group I [RCV004576585] |
Chr15:89260716 [GRCh38]
Chr15:89803947 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.76_77del (p.Glu26fs) |
microsatellite |
Fanconi anemia complementation group I [RCV004576587] |
Chr15:89247719..89247720 [GRCh38]
Chr15:89790950..89790951 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.578_589del (p.Phe193_Lys197delinsTer) |
deletion |
Fanconi anemia complementation group I [RCV004576593] |
Chr15:89263935..89263946 [GRCh38]
Chr15:89807166..89807177 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3200_3201insCCAC (p.Glu1067fs) |
insertion |
Fanconi anemia complementation group I [RCV004576583] |
Chr15:89305354..89305355 [GRCh38]
Chr15:89848585..89848586 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1505C>T (p.Ala502Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004383732] |
Chr15:89281293 [GRCh38]
Chr15:89824524 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2147G>A (p.Ser716Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004383735] |
Chr15:89292842 [GRCh38]
Chr15:89836073 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2897T>C (p.Leu966Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004383740] |
Chr15:89301333 [GRCh38]
Chr15:89844564 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NC_000015.9:g.(?_89379429)_(91312836_?)del |
deletion |
Bloom syndrome [RCV004582913]|D-2-hydroxyglutaric aciduria 2 [RCV004582914] |
Chr15:89379429..91312836 [GRCh37]
Chr15:15q26.1 |
pathogenic|uncertain significance |
| NC_000015.9:g.(?_89824391)_(89828459_?)del |
deletion |
Fanconi anemia [RCV004582928] |
Chr15:89824391..89828459 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NC_000015.9:g.(?_89828307)_(89876985_?)del |
deletion |
Fanconi anemia [RCV004582930]|Progressive sclerosing poliodystrophy [RCV004582929] |
Chr15:89828307..89876985 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NC_000015.9:g.(?_89790879)_(89811776_?)del |
deletion |
Fanconi anemia [RCV004582931] |
Chr15:89790879..89811776 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NC_000015.9:g.(?_89790879)_(89805129_?)del |
deletion |
Fanconi anemia [RCV004582932] |
Chr15:89790879..89805129 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NC_000015.9:g.(?_89790879)_(89807858_?)del |
deletion |
Fanconi anemia [RCV004582933] |
Chr15:89790879..89807858 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NC_000015.9:g.(?_89840554)_(89848657_?)del |
deletion |
Fanconi anemia [RCV004582935] |
Chr15:89840554..89848657 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NC_000015.9:g.(?_89801915)_(89805129_?)del |
deletion |
Fanconi anemia [RCV004582936] |
Chr15:89801915..89805129 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NC_000015.9:g.(?_89804796)_(89807858_?)del |
deletion |
Fanconi anemia [RCV004582937] |
Chr15:89804796..89807858 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NC_000015.9:g.(?_89804796)_(89805129_?)dup |
duplication |
Fanconi anemia [RCV004582938] |
Chr15:89804796..89805129 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NC_000015.9:g.(?_89847877)_(89848838_?)del |
deletion |
Fanconi anemia [RCV004582939] |
Chr15:89847877..89848838 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NC_000015.9:g.(?_89804886)_(89806896_?)del |
deletion |
Fanconi anemia [RCV004582940] |
Chr15:89804886..89806896 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NC_000015.9:g.(?_89856115)_(89862000_?)del |
deletion |
Progressive sclerosing poliodystrophy [RCV004582991] |
Chr15:89856115..89862000 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[3] (p.Glu696_Ala697insGluGluGluGlu) |
microsatellite |
not provided [RCV004598816] |
Chr15:89292759..89292760 [GRCh38]
Chr15:89835990..89835991 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3412C>T (p.Leu1138=) |
single nucleotide variant |
not provided [RCV004575255] |
Chr15:89306069 [GRCh38]
Chr15:89849300 [GRCh37]
Chr15:15q26.1 |
likely benign |
| NM_001113378.2(FANCI):c.119G>A (p.Gly40Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004620782] |
Chr15:89258738 [GRCh38]
Chr15:89801969 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.295C>G (p.His99Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004620784] |
Chr15:89261591 [GRCh38]
Chr15:89804822 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.685G>T (p.Val229Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004620783] |
Chr15:89264537 [GRCh38]
Chr15:89807768 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2759A>G (p.Gln920Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004620785] |
Chr15:89299922 [GRCh38]
Chr15:89843153 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3159C>G (p.Ile1053Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004620786] |
Chr15:89305215 [GRCh38]
Chr15:89848446 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3720+1G>A |
single nucleotide variant |
not provided [RCV004697597] |
Chr15:89312973 [GRCh38]
Chr15:89856204 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_001113378.2(FANCI):c.85-1656_157+358del |
deletion |
not provided [RCV004697688] |
Chr15:89257048..89259134 [GRCh38]
Chr15:89800279..89802365 [GRCh37]
Chr15:15q26.1 |
pathogenic |
| NM_002693.3(POLG):c.3660T>G (p.Ile1220Met) |
single nucleotide variant |
not provided [RCV004725998] |
Chr15:89316811 [GRCh38]
Chr15:89860042 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1255T>C (p.Cys419Arg) |
single nucleotide variant |
not provided [RCV004810201] |
Chr15:89276853 [GRCh38]
Chr15:89820084 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3250G>A (p.Val1084Ile) |
single nucleotide variant |
not provided [RCV004773439] |
Chr15:89305404 [GRCh38]
Chr15:89848635 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.545+1G>T |
single nucleotide variant |
Fanconi anemia complementation group I [RCV004785885] |
Chr15:89263461 [GRCh38]
Chr15:89806692 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2284A>G (p.Ser762Gly) |
single nucleotide variant |
not provided [RCV004761191] |
|
uncertain significance |
| NM_001113378.2(FANCI):c.745_746del (p.Ser249fs) |
microsatellite |
Fanconi anemia complementation group I [RCV005012063] |
Chr15:89264595..89264596 [GRCh38]
Chr15:89807826..89807827 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.975+4T>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012066] |
Chr15:89273473 [GRCh38]
Chr15:89816704 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1309A>G (p.Arg437Gly) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012070] |
Chr15:89278702 [GRCh38]
Chr15:89821933 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1425A>T (p.Gln475His) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012071] |
Chr15:89281213 [GRCh38]
Chr15:89824444 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2107G>A (p.Asp703Asn) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012082] |
Chr15:89292802 [GRCh38]
Chr15:89836033 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2243_2244delinsAG (p.Gly748Glu) |
indel |
Fanconi anemia complementation group I [RCV005012087] |
Chr15:89293015..89293016 [GRCh38]
Chr15:89836246..89836247 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2309A>G (p.Asp770Gly) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012088] |
Chr15:89293850 [GRCh38]
Chr15:89837081 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2331T>A (p.Cys777Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012089] |
Chr15:89293872 [GRCh38]
Chr15:89837103 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2364del (p.Ala789fs) |
deletion |
Fanconi anemia complementation group I [RCV005012090] |
Chr15:89293901 [GRCh38]
Chr15:89837132 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2399C>A (p.Thr800Lys) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012091] |
Chr15:89293940 [GRCh38]
Chr15:89837171 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2419A>C (p.Met807Leu) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012092] |
Chr15:89293960 [GRCh38]
Chr15:89837191 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2587G>A (p.Asp863Asn) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012093] |
Chr15:89295045 [GRCh38]
Chr15:89838276 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2629A>G (p.Ile877Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012094] |
Chr15:89295087 [GRCh38]
Chr15:89838318 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2237T>G (p.Val746Gly) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012086] |
Chr15:89293009 [GRCh38]
Chr15:89836240 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.84+5G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012056] |
Chr15:89247736 [GRCh38]
Chr15:89790967 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.406G>T (p.Ala136Ser) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012058] |
Chr15:89261702 [GRCh38]
Chr15:89804933 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.455G>A (p.Ser152Asn) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012059] |
Chr15:89261830 [GRCh38]
Chr15:89805061 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.528del (p.Gln176fs) |
deletion |
Fanconi anemia complementation group I [RCV005012060] |
Chr15:89263442 [GRCh38]
Chr15:89806673 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.613A>G (p.Met205Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012061] |
Chr15:89263970 [GRCh38]
Chr15:89807201 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.756-9A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012064] |
Chr15:89268390 [GRCh38]
Chr15:89811621 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.934C>A (p.Leu312Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012065] |
Chr15:89273428 [GRCh38]
Chr15:89816659 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1021C>A (p.Leu341Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012067] |
Chr15:89274213 [GRCh38]
Chr15:89817444 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1113-10G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012068] |
Chr15:89276701 [GRCh38]
Chr15:89819932 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1294-3T>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012069] |
Chr15:89278684 [GRCh38]
Chr15:89821915 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2713T>C (p.Ser905Pro) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012095] |
Chr15:89299876 [GRCh38]
Chr15:89843107 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2812G>T (p.Asp938Tyr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012096] |
Chr15:89300308 [GRCh38]
Chr15:89843539 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2862A>C (p.Arg954Ser) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012097] |
Chr15:89300358 [GRCh38]
Chr15:89843589 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2950C>G (p.Leu984Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012098] |
Chr15:89301386 [GRCh38]
Chr15:89844617 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2962G>T (p.Val988Phe) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012099] |
Chr15:89301398 [GRCh38]
Chr15:89844629 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3025T>A (p.Trp1009Arg) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012100] |
Chr15:89303882 [GRCh38]
Chr15:89847113 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3186+4C>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012101] |
Chr15:89305246 [GRCh38]
Chr15:89848477 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3255+2dup |
duplication |
Fanconi anemia complementation group I [RCV005012102] |
Chr15:89305410..89305411 [GRCh38]
Chr15:89848641..89848642 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3286C>A (p.Leu1096Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012103] |
Chr15:89305635 [GRCh38]
Chr15:89848866 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3349G>A (p.Glu1117Lys) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012104] |
Chr15:89305698 [GRCh38]
Chr15:89848929 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3349+6A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012105] |
Chr15:89305704 [GRCh38]
Chr15:89848935 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3407T>C (p.Met1136Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012106] |
Chr15:89306064 [GRCh38]
Chr15:89849295 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3482C>T (p.Thr1161Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012107] |
Chr15:89306139 [GRCh38]
Chr15:89849370 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3580A>G (p.Met1194Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012108] |
Chr15:89307518 [GRCh38]
Chr15:89850749 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3641C>T (p.Ser1214Phe) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012109] |
Chr15:89307662 [GRCh38]
Chr15:89850893 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3660_3663del (p.Ser1220fs) |
deletion |
Fanconi anemia complementation group I [RCV005012110] |
Chr15:89312910..89312913 [GRCh38]
Chr15:89856141..89856144 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3663G>C (p.Lys1221Asn) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012111] |
Chr15:89312915 [GRCh38]
Chr15:89856146 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3710C>G (p.Ala1237Gly) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012112] |
Chr15:89312962 [GRCh38]
Chr15:89856193 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3910G>A (p.Asp1304Asn) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012113] |
Chr15:89315375 [GRCh38]
Chr15:89858606 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1482_1483delinsTT (p.Gln494_Thr495delinsHisSer) |
indel |
Fanconi anemia complementation group I [RCV005012072] |
Chr15:89281270..89281271 [GRCh38]
Chr15:89824501..89824502 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1561C>T (p.Leu521Phe) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012073] |
Chr15:89281813 [GRCh38]
Chr15:89825044 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1584-4C>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012074] |
Chr15:89283132 [GRCh38]
Chr15:89826363 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1694G>C (p.Ser565Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012075] |
Chr15:89283246 [GRCh38]
Chr15:89826477 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1751G>A (p.Cys584Tyr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012076] |
Chr15:89285148 [GRCh38]
Chr15:89828379 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1789C>T (p.Gln597Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012077] |
Chr15:89285186 [GRCh38]
Chr15:89828417 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1811T>C (p.Met604Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012078] |
Chr15:89285208 [GRCh38]
Chr15:89828439 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1821+4A>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012079] |
Chr15:89285222 [GRCh38]
Chr15:89828453 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1901T>A (p.Phe634Tyr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012080] |
Chr15:89291623 [GRCh38]
Chr15:89834854 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2046C>T (p.Val682=) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012081] |
Chr15:89292741 [GRCh38]
Chr15:89835972 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2152C>G (p.Leu718Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005012083] |
Chr15:89292847 [GRCh38]
Chr15:89836078 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2194_2195del (p.Ser732fs) |
microsatellite |
Fanconi anemia complementation group I [RCV005012084] |
Chr15:89292964..89292965 [GRCh38]
Chr15:89836195..89836196 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2216dup (p.Asn739fs) |
duplication |
Fanconi anemia complementation group I [RCV005012085] |
Chr15:89292982..89292983 [GRCh38]
Chr15:89836213..89836214 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.29C>T (p.Ala10Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003235] |
Chr15:89247676 [GRCh38]
Chr15:89790907 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.158-19C>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003237] |
Chr15:89260694 [GRCh38]
Chr15:89803925 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.268A>T (p.Ile90Leu) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003239] |
Chr15:89260823 [GRCh38]
Chr15:89804054 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.358A>G (p.Ser120Gly) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003240] |
Chr15:89261654 [GRCh38]
Chr15:89804885 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.532A>G (p.Thr178Ala) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003242] |
Chr15:89263447 [GRCh38]
Chr15:89806678 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.806G>A (p.Gly269Asp) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003244] |
Chr15:89268449 [GRCh38]
Chr15:89811680 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.811A>T (p.Ile271Phe) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003245] |
Chr15:89268454 [GRCh38]
Chr15:89811685 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.969G>C (p.Gln323His) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003246] |
Chr15:89273463 [GRCh38]
Chr15:89816694 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.993G>C (p.Lys331Asn) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003247] |
Chr15:89274185 [GRCh38]
Chr15:89817416 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3079_3088delinsTTCTT (p.Ser1027fs) |
indel |
Fanconi anemia complementation group I [RCV005003281] |
Chr15:89305135..89305144 [GRCh38]
Chr15:89848366..89848375 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3622C>G (p.Leu1208Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003286] |
Chr15:89307643 [GRCh38]
Chr15:89850874 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3816+2T>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003294] |
Chr15:89314709 [GRCh38]
Chr15:89857940 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2836G>C (p.Asp946His) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003276] |
Chr15:89300332 [GRCh38]
Chr15:89843563 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1753C>A (p.Leu585Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003262] |
Chr15:89285150 [GRCh38]
Chr15:89828381 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1687del (p.Ser563fs) |
deletion |
Fanconi anemia complementation group I [RCV005003259] |
Chr15:89283239 [GRCh38]
Chr15:89826470 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1648T>G (p.Leu550Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003258] |
Chr15:89283200 [GRCh38]
Chr15:89826431 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2923G>C (p.Glu975Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004977674] |
Chr15:89301359 [GRCh38]
Chr15:89844590 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.820C>G (p.His274Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004977676] |
Chr15:89268463 [GRCh38]
Chr15:89811694 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3541C>T (p.Leu1181Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004977675] |
Chr15:89307479 [GRCh38]
Chr15:89850710 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.18A>T (p.Leu6Phe) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003234] |
Chr15:89247665 [GRCh38]
Chr15:89790896 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2890-3C>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003279] |
Chr15:89301323 [GRCh38]
Chr15:89844554 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2813A>T (p.Asp938Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003275] |
Chr15:89300309 [GRCh38]
Chr15:89843540 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2630_2631del (p.Ile877fs) |
deletion |
Fanconi anemia complementation group I [RCV005003270] |
Chr15:89295087..89295088 [GRCh38]
Chr15:89838318..89838319 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2595A>G (p.Gln865=) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003269] |
Chr15:89295053 [GRCh38]
Chr15:89838284 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.562G>A (p.Ala188Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003243] |
Chr15:89263919 [GRCh38]
Chr15:89807150 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3053_3056delinsACCA (p.Ser1018_Arg1019delinsAsnGln) |
indel |
Fanconi anemia complementation group I [RCV005003280] |
Chr15:89303910..89303913 [GRCh38]
Chr15:89847141..89847144 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3721-12_3721-11insAACA |
insertion |
Fanconi anemia complementation group I [RCV005003291] |
Chr15:89314600..89314601 [GRCh38]
Chr15:89857831..89857832 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2654A>G (p.Tyr885Cys) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003271] |
Chr15:89299817 [GRCh38]
Chr15:89843048 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2297A>G (p.Asn766Ser) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003267] |
Chr15:89293838 [GRCh38]
Chr15:89837069 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1890+3A>C |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003264] |
Chr15:89290284 [GRCh38]
Chr15:89833515 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1693A>G (p.Ser565Gly) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003260] |
Chr15:89283245 [GRCh38]
Chr15:89826476 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.121A>G (p.Lys41Glu) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003236] |
Chr15:89258740 [GRCh38]
Chr15:89801971 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1044dup (p.Phe349fs) |
duplication |
Fanconi anemia complementation group I [RCV005003248] |
Chr15:89274232..89274233 [GRCh38]
Chr15:89817463..89817464 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1112G>A (p.Ser371Asn) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003249] |
Chr15:89274304 [GRCh38]
Chr15:89817535 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1112+3_1112+6del |
deletion |
Fanconi anemia complementation group I [RCV005003250] |
Chr15:89274305..89274308 [GRCh38]
Chr15:89817536..89817539 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3085A>G (p.Met1029Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003282] |
Chr15:89305141 [GRCh38]
Chr15:89848372 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3153G>T (p.Gln1051His) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003283] |
Chr15:89305209 [GRCh38]
Chr15:89848440 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3352G>T (p.Glu1118Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003285] |
Chr15:89306009 [GRCh38]
Chr15:89849240 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3721-19T>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003289] |
Chr15:89314593 [GRCh38]
Chr15:89857824 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3808_3809delinsTC (p.Lys1270Ser) |
indel |
Fanconi anemia complementation group I [RCV005003293] |
Chr15:89314699..89314700 [GRCh38]
Chr15:89857930..89857931 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3909_3912delinsTGAA (p.Glu1303_Asp1304delinsAspGlu) |
indel |
Fanconi anemia complementation group I [RCV005003296] |
Chr15:89315374..89315377 [GRCh38]
Chr15:89858605..89858608 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2876T>C (p.Ile959Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003277] |
Chr15:89300372 [GRCh38]
Chr15:89843603 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2890-11T>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003278] |
Chr15:89301315 [GRCh38]
Chr15:89844546 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3713C>T (p.Thr1238Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003288] |
Chr15:89312965 [GRCh38]
Chr15:89856196 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2804-3T>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003274] |
Chr15:89300297 [GRCh38]
Chr15:89843528 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1888C>T (p.Gln630Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003263] |
Chr15:89290279 [GRCh38]
Chr15:89833510 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.2788T>C (p.Phe930Leu) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003273] |
Chr15:89299951 [GRCh38]
Chr15:89843182 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2705A>G (p.Lys902Arg) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003272] |
Chr15:89299868 [GRCh38]
Chr15:89843099 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2105T>C (p.Leu702Pro) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003265] |
Chr15:89292800 [GRCh38]
Chr15:89836031 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1532T>C (p.Met511Thr) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003257] |
Chr15:89281784 [GRCh38]
Chr15:89825015 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1414T>G (p.Leu472Val) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003256] |
Chr15:89281202 [GRCh38]
Chr15:89824433 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1381+1G>A |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003254] |
Chr15:89278775 [GRCh38]
Chr15:89822006 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.1315_1317del (p.Glu439del) |
deletion |
Fanconi anemia complementation group I [RCV005003253] |
Chr15:89278706..89278708 [GRCh38]
Chr15:89821937..89821939 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3848C>A (p.Thr1283Asn) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003295] |
Chr15:89315313 [GRCh38]
Chr15:89858544 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.220C>T (p.Gln74Ter) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003238] |
Chr15:89260775 [GRCh38]
Chr15:89804006 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.511C>G (p.Gln171Glu) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003241] |
Chr15:89263426 [GRCh38]
Chr15:89806657 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.1181G>A (p.Gly394Glu) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003252] |
Chr15:89276779 [GRCh38]
Chr15:89820010 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3242_3248dup (p.Val1084fs) |
duplication |
Fanconi anemia complementation group I [RCV005003284] |
Chr15:89305395..89305396 [GRCh38]
Chr15:89848626..89848627 [GRCh37]
Chr15:15q26.1 |
likely pathogenic |
| NM_001113378.2(FANCI):c.3677C>A (p.Thr1226Lys) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003287] |
Chr15:89312929 [GRCh38]
Chr15:89856160 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.3721-4T>G |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003292] |
Chr15:89314608 [GRCh38]
Chr15:89857839 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2449C>A (p.Leu817Ile) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003268] |
Chr15:89293990 [GRCh38]
Chr15:89837221 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2155G>A (p.Glu719Lys) |
single nucleotide variant |
Fanconi anemia complementation group I [RCV005003266] |
Chr15:89292850 [GRCh38]
Chr15:89836081 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
| NM_001113378.2(FANCI):c.2089G>A (p.Ala697Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004977677] |
Chr15:89292784 [GRCh38]
Chr15:89836015 [GRCh37]
Chr15:15q26.1 |
uncertain significance |
