| NC_000014.9:g.(31394019_31414809)_(31654321_31655889)del |
deletion |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV000000018] |
Chr14:31414809..31654321 [GRCh38]
Chr14:31884015..32123527 [GRCh37]
Chr14:30953766..31193278 [NCBI36]
Chr14:14q12 |
pathogenic |
| NM_025152.2(NUBPL):c.513+40154C>T |
single nucleotide variant |
Lung cancer [RCV000098692] |
Chr14:31713728 [GRCh38]
Chr14:32182934 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.2(NUBPL):c.514-33812C>G |
single nucleotide variant |
Lung cancer [RCV000098693] |
Chr14:31753968 [GRCh38]
Chr14:32223174 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer) |
insertion |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV000043476] |
Chr14:31826682..31826683 [GRCh38]
Chr14:32295888..32295889 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV000624409]|Mitochondrial complex 1 deficiency, nuclear type 21 [RCV000043477] |
Chr14:31599310 [GRCh38]
Chr14:32068516 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_025152.3(NUBPL):c.693+1G>A |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV000043478]|not provided [RCV001852908] |
Chr14:31826715 [GRCh38]
Chr14:32295921 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV000043479] |
Chr14:31787845 [GRCh38]
Chr14:32257051 [GRCh37]
Chr14:14q12 |
pathogenic |
| GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 |
copy number loss |
See cases [RCV000051485] |
Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 |
copy number loss |
See cases [RCV000051490] |
Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1 |
pathogenic |
| GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3 |
copy number gain |
See cases [RCV000052292] |
Chr14:30670314..44990595 [GRCh38]
Chr14:31139520..45459798 [GRCh37]
Chr14:30209271..44529548 [NCBI36]
Chr14:14q12-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 |
copy number gain |
See cases [RCV000053803] |
Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] |
Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1 |
pathogenic |
| NM_025152.3(NUBPL):c.-1C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000335330]|not provided [RCV000676600]|not specified [RCV000127267] |
Chr14:31561439 [GRCh38]
Chr14:32030645 [GRCh37]
Chr14:14q12 |
benign|likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.898G>A (p.Ala300Thr) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001332599] |
Chr14:31859118 [GRCh38]
Chr14:32328324 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1 |
copy number loss |
See cases [RCV000135334] |
Chr14:30382554..37712341 [GRCh38]
Chr14:30851760..38181546 [GRCh37]
Chr14:29921511..37251297 [NCBI36]
Chr14:14q12-21.1 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q12(chr14:31402452-31648460)x1 |
copy number loss |
See cases [RCV000140699] |
Chr14:31402452..31648460 [GRCh38]
Chr14:31871658..32117666 [GRCh37]
Chr14:30941409..31187417 [NCBI36]
Chr14:14q12 |
uncertain significance |
| GRCh38/hg38 14q12(chr14:31404152-31654707)x1 |
copy number loss |
See cases [RCV000141982] |
Chr14:31404152..31654707 [GRCh38]
Chr14:31873358..32123913 [GRCh37]
Chr14:30943109..31193664 [NCBI36]
Chr14:14q12 |
uncertain significance |
| GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1 |
copy number loss |
See cases [RCV000142290] |
Chr14:28803988..33234266 [GRCh38]
Chr14:29273194..33703472 [GRCh37]
Chr14:28342945..32773223 [NCBI36]
Chr14:14q12-13.1 |
pathogenic |
| GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1 |
copy number loss |
See cases [RCV000143063] |
Chr14:30792271..44685131 [GRCh38]
Chr14:31261477..45154334 [GRCh37]
Chr14:30331228..44224084 [NCBI36]
Chr14:14q12-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 |
copy number gain |
See cases [RCV000143186] |
Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 |
copy number gain |
See cases [RCV000143748] |
Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3 |
pathogenic |
| NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV000210568]|Mitochondrial complex 1 deficiency, nuclear type 21 [RCV000786780]|Mitochondrial complex I deficiency [RCV000191115]|not provided [RCV000676602] |
Chr14:31599308 [GRCh38]
Chr14:32068514 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_025152.3(NUBPL):c.290C>T (p.Ser97Leu) |
single nucleotide variant |
not provided [RCV000200283] |
Chr14:31565047 [GRCh38]
Chr14:32034253 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000622708]|Mitochondrial complex 1 deficiency, nuclear type 21 [RCV001526454]|not provided [RCV000196589] |
Chr14:31562125 [GRCh38]
Chr14:32031331 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_025152.3(NUBPL):c.383-24AG[2] |
microsatellite |
not provided [RCV001668364]|not specified [RCV000200627] |
Chr14:31673331..31673332 [GRCh38]
Chr14:32142537..32142538 [GRCh37]
Chr14:14q12 |
benign|no classifications from unflagged records |
| NM_025152.3(NUBPL):c.256+14T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110847]|not provided [RCV002054335]|not specified [RCV000200815] |
Chr14:31562229 [GRCh38]
Chr14:32031435 [GRCh37]
Chr14:14q12 |
benign|uncertain significance |
| NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) |
single nucleotide variant |
Mitochondrial complex I deficiency [RCV000358282]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001094169]|NUBPL-related disorder [RCV003917800]|not provided [RCV000432198] |
Chr14:31787811 [GRCh38]
Chr14:32257017 [GRCh37]
Chr14:14q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_025152.3(NUBPL):c.162C>T (p.Ser54=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000395434]|not provided [RCV000893957]|not specified [RCV000197028] |
Chr14:31562121 [GRCh38]
Chr14:32031327 [GRCh37]
Chr14:14q12 |
benign|uncertain significance |
| NM_025152.3(NUBPL):c.376T>C (p.Ser126Pro) |
single nucleotide variant |
not provided [RCV000197592] |
Chr14:31599373 [GRCh38]
Chr14:32068579 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.423-1G>A |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV003388417] |
Chr14:31673483 [GRCh38]
Chr14:32142689 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic |
| NM_025152.3(NUBPL):c.140A>G (p.Gln47Arg) |
single nucleotide variant |
not provided [RCV000197999] |
Chr14:31562099 [GRCh38]
Chr14:32031305 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.815-27T>C |
single nucleotide variant |
Inborn genetic diseases [RCV000210589]|Mitochondrial complex 1 deficiency, nuclear type 21 [RCV001249675]|Mitochondrial complex I deficiency [RCV000660543]|not provided [RCV000198391] |
Chr14:31850092 [GRCh38]
Chr14:32319298 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV001267134]|Mitochondrial complex I deficiency [RCV000662087]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001114184]|NUBPL-related disorder [RCV003967521]|not provided [RCV000423853] |
Chr14:31787859 [GRCh38]
Chr14:32257065 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000322099]|not provided [RCV001853186] |
Chr14:31673549 [GRCh38]
Chr14:32142755 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.167G>A (p.Gly56Glu) |
single nucleotide variant |
not specified [RCV000198931] |
Chr14:31562126 [GRCh38]
Chr14:32031332 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.426G>A (p.Met142Ile) |
single nucleotide variant |
not provided [RCV000198994] |
Chr14:31673487 [GRCh38]
Chr14:32142693 [GRCh37]
Chr14:14q12 |
likely pathogenic|uncertain significance |
| NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000300305]|NUBPL-related disorder [RCV003939966]|not provided [RCV000676601]|not specified [RCV000375839] |
Chr14:31561516 [GRCh38]
Chr14:32030722 [GRCh37]
Chr14:14q12 |
benign|likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002517249]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001112837]|See cases [RCV002252052]|not provided [RCV001853185] |
Chr14:31673385 [GRCh38]
Chr14:32142591 [GRCh37]
Chr14:14q12 |
likely pathogenic|uncertain significance |
| NM_025152.3(NUBPL):c.145A>G (p.Arg49Gly) |
single nucleotide variant |
not provided [RCV000199861] |
Chr14:31562104 [GRCh38]
Chr14:32031310 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000318148]|not provided [RCV000963310] |
Chr14:31826706 [GRCh38]
Chr14:32295912 [GRCh37]
Chr14:14q12 |
benign|likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.201_202insG (p.Gln68fs) |
insertion |
not provided [RCV000200167] |
Chr14:31562160..31562161 [GRCh38]
Chr14:32031366..32031367 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_025152.3(NUBPL):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV003338688]|Mitochondrial complex I deficiency, nuclear type 1 [RCV003338689]|Mitochondrial oxidative phosphorylation disorder [RCV000610885] |
Chr14:31561441 [GRCh38]
Chr14:32030647 [GRCh37]
Chr14:14q12 |
likely pathogenic |
| NM_025152.3(NUBPL):c.677G>A (p.Arg226His) |
single nucleotide variant |
Inborn genetic diseases [RCV004649124]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000281828] |
Chr14:31826698 [GRCh38]
Chr14:32295904 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.603A>C (p.Ile201=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000323385] |
Chr14:31787869 [GRCh38]
Chr14:32257075 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.639C>T (p.Ile213=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000373408]|NUBPL-related disorder [RCV003950065]|not provided [RCV000908212] |
Chr14:31826660 [GRCh38]
Chr14:32295866 [GRCh37]
Chr14:14q12 |
benign|likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.*1609G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000269805] |
Chr14:31860789 [GRCh38]
Chr14:32329995 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1694G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000272821] |
Chr14:31860874 [GRCh38]
Chr14:32330080 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.*135T>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000351828] |
Chr14:31859315 [GRCh38]
Chr14:32328521 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*273C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000288716]|not provided [RCV001711929] |
Chr14:31859453 [GRCh38]
Chr14:32328659 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_025152.3(NUBPL):c.*1151G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000275426]|not provided [RCV004693165] |
Chr14:31860331 [GRCh38]
Chr14:32329537 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*122G>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000292306]|not provided [RCV001642971] |
Chr14:31859302 [GRCh38]
Chr14:32328508 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_025152.3(NUBPL):c.*1053G>A |
single nucleotide variant |
Mitochondrial complex I deficiency [RCV000296374] |
Chr14:31860233 [GRCh38]
Chr14:32329439 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*995T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000262171] |
Chr14:31860175 [GRCh38]
Chr14:32329381 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.-7C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000279303]|NUBPL-related disorder [RCV003969877]|not specified [RCV000444428] |
Chr14:31561433 [GRCh38]
Chr14:32030639 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.-25A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000342502] |
Chr14:31561415 [GRCh38]
Chr14:32030621 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*2036A>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000280137] |
Chr14:31861216 [GRCh38]
Chr14:32330422 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1874A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000343121] |
Chr14:31861054 [GRCh38]
Chr14:32330260 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000366282]|not provided [RCV001850654] |
Chr14:31673355 [GRCh38]
Chr14:32142561 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*312G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000343669] |
Chr14:31859492 [GRCh38]
Chr14:32328698 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000270914] |
Chr14:31565043 [GRCh38]
Chr14:32034249 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*527G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000394816] |
Chr14:31859707 [GRCh38]
Chr14:32328913 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.384C>T (p.Ser128=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000271714] |
Chr14:31673356 [GRCh38]
Chr14:32142562 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1147dup |
duplication |
Mitochondrial complex I deficiency [RCV000282877] |
Chr14:31860302..31860303 [GRCh38]
Chr14:32329508..32329509 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.285C>T (p.Asn95=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000370184]|not provided [RCV000910512] |
Chr14:31565042 [GRCh38]
Chr14:32034248 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.*638C>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000260827] |
Chr14:31859818 [GRCh38]
Chr14:32329024 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.2(NUBPL):c.-39G>A |
single nucleotide variant |
Mitochondrial complex I deficiency [RCV000282811] |
Chr14:31561401 [GRCh38]
Chr14:32030607 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1451C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000371407] |
Chr14:31860631 [GRCh38]
Chr14:32329837 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.*1888G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000372210] |
Chr14:31861068 [GRCh38]
Chr14:32330274 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_025152.3(NUBPL):c.369G>A (p.Pro123=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000306925]|not provided [RCV002522302] |
Chr14:31599366 [GRCh38]
Chr14:32068572 [GRCh37]
Chr14:14q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_025152.3(NUBPL):c.*357C>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000309061] |
Chr14:31859537 [GRCh38]
Chr14:32328743 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1015C>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000331454] |
Chr14:31860195 [GRCh38]
Chr14:32329401 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.-13A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000378355]|not provided [RCV001705469] |
Chr14:31561427 [GRCh38]
Chr14:32030633 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.*188T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000403347] |
Chr14:31859368 [GRCh38]
Chr14:32328574 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*905A>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000357065] |
Chr14:31860085 [GRCh38]
Chr14:32329291 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1260T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000314112] |
Chr14:31860440 [GRCh38]
Chr14:32329646 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*444C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000359195] |
Chr14:31859624 [GRCh38]
Chr14:32328830 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_025152.3(NUBPL):c.*561G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000360332] |
Chr14:31859741 [GRCh38]
Chr14:32328947 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1685A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000384047] |
Chr14:31860865 [GRCh38]
Chr14:32330071 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000315529] |
Chr14:31562158 [GRCh38]
Chr14:32031364 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*836C>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000316109] |
Chr14:31860016 [GRCh38]
Chr14:32329222 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000386623] |
Chr14:31850198 [GRCh38]
Chr14:32319404 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.573G>A (p.Val191=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000268262] |
Chr14:31787839 [GRCh38]
Chr14:32257045 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.217G>T (p.Ala73Ser) |
single nucleotide variant |
not provided [RCV001547588] |
Chr14:31562176 [GRCh38]
Chr14:32031382 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.*1122dup |
duplication |
Mitochondrial complex I deficiency [RCV000346145] |
Chr14:31860301..31860302 [GRCh38]
Chr14:32329507..32329508 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1121dup |
duplication |
Mitochondrial complex I deficiency [RCV000382669] |
Chr14:31860300..31860301 [GRCh38]
Chr14:32329506..32329507 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1145_*1148del |
deletion |
Mitochondrial complex I deficiency [RCV000305088] |
Chr14:31860325..31860328 [GRCh38]
Chr14:32329531..32329534 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1119_*1120insA |
insertion |
Mitochondrial complex I deficiency [RCV000332688] |
Chr14:31860299..31860300 [GRCh38]
Chr14:32329505..32329506 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*537dup |
duplication |
Mitochondrial complex I deficiency [RCV000305637] |
Chr14:31859716..31859717 [GRCh38]
Chr14:32328922..32328923 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.*1146_*1148del |
deletion |
Mitochondrial complex I deficiency [RCV000334404] |
Chr14:31860326..31860328 [GRCh38]
Chr14:32329532..32329534 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1048G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000385936] |
Chr14:31860228 [GRCh38]
Chr14:32329434 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.109-11A>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000350566] |
Chr14:31562057 [GRCh38]
Chr14:32031263 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1155dup |
duplication |
Mitochondrial complex I deficiency [RCV000367833] |
Chr14:31860330..31860331 [GRCh38]
Chr14:32329536..32329537 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1773A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000320854] |
Chr14:31860953 [GRCh38]
Chr14:32330159 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1840A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000285846] |
Chr14:31861020 [GRCh38]
Chr14:32330226 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1122_*1124del |
deletion |
Mitochondrial complex I deficiency [RCV000390772] |
Chr14:31860302..31860304 [GRCh38]
Chr14:32329508..32329510 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1144_*1147del |
deletion |
Mitochondrial complex I deficiency [RCV000340259] |
Chr14:31860303..31860306 [GRCh38]
Chr14:32329509..32329512 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1121_*1123del |
deletion |
Mitochondrial complex I deficiency [RCV000288885] |
Chr14:31860301..31860303 [GRCh38]
Chr14:32329507..32329509 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*355T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000394819] |
Chr14:31859535 [GRCh38]
Chr14:32328741 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1619C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000327098] |
Chr14:31860799 [GRCh38]
Chr14:32330005 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000395507] |
Chr14:31561485 [GRCh38]
Chr14:32030691 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1776G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000377899] |
Chr14:31860956 [GRCh38]
Chr14:32330162 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1149_*1150insA |
insertion |
Mitochondrial complex I deficiency [RCV000301424] |
Chr14:31860329..31860330 [GRCh38]
Chr14:32329535..32329536 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1148del |
deletion |
Mitochondrial complex I deficiency [RCV000397798] |
Chr14:31860328 [GRCh38]
Chr14:32329534 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.459A>C (p.Pro153=) |
single nucleotide variant |
not specified [RCV000600565] |
Chr14:31673520 [GRCh38]
Chr14:32142726 [GRCh37]
Chr14:14q12 |
likely benign |
| GRCh37/hg19 14q12(chr14:32097208-32603615)x3 |
copy number gain |
See cases [RCV000449248] |
Chr14:32097208..32603615 [GRCh37]
Chr14:14q12 |
likely benign |
| GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 |
copy number gain |
See cases [RCV000447658] |
Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2 |
pathogenic |
| GRCh37/hg19 14q12(chr14:31916124-32101969)x1 |
copy number loss |
See cases [RCV000446865] |
Chr14:31916124..32101969 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q12(chr14:31822348-32154043)x3 |
copy number gain |
See cases [RCV000447234] |
Chr14:31822348..32154043 [GRCh37]
Chr14:14q12 |
likely benign |
| GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_025152.3(NUBPL):c.693+19A>G |
single nucleotide variant |
not provided [RCV000431211] |
Chr14:31826733 [GRCh38]
Chr14:32295939 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_025152.3(NUBPL):c.608-16G>A |
single nucleotide variant |
not provided [RCV000513694]|not specified [RCV000421149] |
Chr14:31826613 [GRCh38]
Chr14:32295819 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_025152.3(NUBPL):c.422+8T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001112838]|not provided [RCV001428445]|not specified [RCV000422901] |
Chr14:31673402 [GRCh38]
Chr14:32142608 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.422+13A>G |
single nucleotide variant |
not provided [RCV002063598]|not specified [RCV000430099] |
Chr14:31673407 [GRCh38]
Chr14:32142613 [GRCh37]
Chr14:14q12 |
likely benign |
| GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 |
copy number gain |
See cases [RCV000448273] |
Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_025152.3(NUBPL):c.526C>T (p.Gln176Ter) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV003989540]|not provided [RCV000497660] |
Chr14:31787792 [GRCh38]
Chr14:32256998 [GRCh37]
Chr14:14q12 |
likely pathogenic |
| NM_025152.3(NUBPL):c.109-22TTA[3] |
microsatellite |
not provided [RCV002529369]|not specified [RCV000615165] |
Chr14:31562046..31562048 [GRCh38]
Chr14:32031252..32031254 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.135A>G (p.Leu45=) |
single nucleotide variant |
not specified [RCV000608467] |
Chr14:31562094 [GRCh38]
Chr14:32031300 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.35G>A (p.Gly12Glu) |
single nucleotide variant |
not provided [RCV000658250] |
Chr14:31561474 [GRCh38]
Chr14:32030680 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.349A>G (p.Met117Val) |
single nucleotide variant |
Mitochondrial complex I deficiency [RCV000681643] |
Chr14:31599346 [GRCh38]
Chr14:32068552 [GRCh37]
Chr14:14q12 |
uncertain significance |
| Single allele |
deletion |
Mitochondrial complex I deficiency [RCV000678000] |
Chr14:31012250..32193706 [GRCh38]
Chr14:31481456..32662912 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q12(chr14:32079222-32447963)x1 |
copy number loss |
not provided [RCV000683603] |
Chr14:32079222..32447963 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_025152.3(NUBPL):c.627G>A (p.Thr209=) |
single nucleotide variant |
NUBPL-related disorder [RCV003978013]|not provided [RCV000917213] |
Chr14:31826648 [GRCh38]
Chr14:32295854 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.514-103G>A |
single nucleotide variant |
not provided [RCV001586260] |
Chr14:31787677 [GRCh38]
Chr14:32256883 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.*26C>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001114186]|not provided [RCV001585986] |
Chr14:31859206 [GRCh38]
Chr14:32328412 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.198T>A (p.Val66=) |
single nucleotide variant |
not provided [RCV000909558] |
Chr14:31562157 [GRCh38]
Chr14:32031363 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.897+81C>T |
single nucleotide variant |
not provided [RCV000835563] |
Chr14:31850282 [GRCh38]
Chr14:32319488 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV000791174] |
Chr14:31565022 [GRCh38]
Chr14:32034228 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.504G>A (p.Leu168=) |
single nucleotide variant |
not provided [RCV000914149] |
Chr14:31673565 [GRCh38]
Chr14:32142771 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.291+13196C>A |
single nucleotide variant |
not provided [RCV000843365] |
Chr14:31578244 [GRCh38]
Chr14:32047450 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.815-84T>G |
single nucleotide variant |
not provided [RCV000830872] |
Chr14:31850035 [GRCh38]
Chr14:32319241 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.292-253A>C |
single nucleotide variant |
not provided [RCV000830681] |
Chr14:31599036 [GRCh38]
Chr14:32068242 [GRCh37]
Chr14:14q12 |
benign |
| GRCh37/hg19 14q12(chr14:32110535-32603600)x3 |
copy number gain |
not provided [RCV000848973] |
Chr14:32110535..32603600 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.815-92G>A |
single nucleotide variant |
not provided [RCV000830871] |
Chr14:31850027 [GRCh38]
Chr14:32319233 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV000791175] |
Chr14:31826646 [GRCh38]
Chr14:32295852 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.815-180A>G |
single nucleotide variant |
not provided [RCV000832585] |
Chr14:31849939 [GRCh38]
Chr14:32319145 [GRCh37]
Chr14:14q12 |
benign |
| GRCh37/hg19 14q12(chr14:32110535-32600382)x3 |
copy number gain |
not provided [RCV000847526] |
Chr14:32110535..32600382 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1047C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001114271] |
Chr14:31860227 [GRCh38]
Chr14:32329433 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1370C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001114272] |
Chr14:31860550 [GRCh38]
Chr14:32329756 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q12(chr14:32110535-32603615)x3 |
copy number gain |
not provided [RCV001006611] |
Chr14:32110535..32603615 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.726C>G (p.Phe242Leu) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV000786781] |
Chr14:31846503 [GRCh38]
Chr14:32315709 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_025152.3(NUBPL):c.514-32A>G |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV001788365]|not provided [RCV000830870] |
Chr14:31787748 [GRCh38]
Chr14:32256954 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.897+155A>G |
single nucleotide variant |
not provided [RCV000829055] |
Chr14:31850356 [GRCh38]
Chr14:32319562 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.814+192T>C |
single nucleotide variant |
not provided [RCV000828600] |
Chr14:31846783 [GRCh38]
Chr14:32315989 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.898-160G>T |
single nucleotide variant |
not provided [RCV000828601] |
Chr14:31858958 [GRCh38]
Chr14:32328164 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.292-280A>G |
single nucleotide variant |
not provided [RCV000843387] |
Chr14:31599009 [GRCh38]
Chr14:32068215 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.513+150A>G |
single nucleotide variant |
not provided [RCV000843388] |
Chr14:31673724 [GRCh38]
Chr14:32142930 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.514-271G>A |
single nucleotide variant |
not provided [RCV000843390] |
Chr14:31787509 [GRCh38]
Chr14:32256715 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.693+236G>A |
single nucleotide variant |
not provided [RCV000843391] |
Chr14:31826950 [GRCh38]
Chr14:32296156 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.897+164A>G |
single nucleotide variant |
not provided [RCV000843392] |
Chr14:31850365 [GRCh38]
Chr14:32319571 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.186G>T (p.Pro62=) |
single nucleotide variant |
not provided [RCV000840973] |
Chr14:31562145 [GRCh38]
Chr14:32031351 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.514-275A>G |
single nucleotide variant |
not provided [RCV000829051] |
Chr14:31787505 [GRCh38]
Chr14:32256711 [GRCh37]
Chr14:14q12 |
benign |
| GRCh37/hg19 14q12(chr14:32117154-32214183)x1 |
copy number loss |
not provided [RCV000845866] |
Chr14:32117154..32214183 [GRCh37]
Chr14:14q12 |
pathogenic |
| GRCh37/hg19 14q12-13.1(chr14:30448939-35017859)x1 |
copy number loss |
not provided [RCV000849105] |
Chr14:30448939..35017859 [GRCh37]
Chr14:14q12-13.1 |
pathogenic |
| GRCh37/hg19 14q12(chr14:31873358-32123957)x1 |
copy number loss |
not provided [RCV000849736] |
Chr14:31873358..32123957 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q12(chr14:32143670-32244294)x3 |
copy number gain |
not provided [RCV000849737] |
Chr14:32143670..32244294 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.774dup (p.Ala259fs) |
duplication |
not provided [RCV001009159] |
Chr14:31846550..31846551 [GRCh38]
Chr14:32315756..32315757 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_025152.3(NUBPL):c.*1963C>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001112997] |
Chr14:31861143 [GRCh38]
Chr14:32330349 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*742C>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001112910] |
Chr14:31859922 [GRCh38]
Chr14:32329128 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*817T>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001112912] |
Chr14:31859997 [GRCh38]
Chr14:32329203 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*864C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001112914] |
Chr14:31860044 [GRCh38]
Chr14:32329250 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.956A>G (p.Glu319Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004030189]|not provided [RCV000995166] |
Chr14:31859176 [GRCh38]
Chr14:32328382 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.591_595del (p.Gln197fs) |
deletion |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV001198813] |
Chr14:31787856..31787860 [GRCh38]
Chr14:32257062..32257066 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q12(chr14:31881150-32123495)x3 |
copy number gain |
not provided [RCV000846399] |
Chr14:31881150..32123495 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.287A>T (p.Asp96Val) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110848] |
Chr14:31565044 [GRCh38]
Chr14:32034250 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*323G>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110916] |
Chr14:31859503 [GRCh38]
Chr14:32328709 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*344T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110917] |
Chr14:31859524 [GRCh38]
Chr14:32328730 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1940A>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001111001] |
Chr14:31861120 [GRCh38]
Chr14:32330326 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*301G>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110157] |
Chr14:31859481 [GRCh38]
Chr14:32328687 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1554A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110248] |
Chr14:31860734 [GRCh38]
Chr14:32329940 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1594T>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110249] |
Chr14:31860774 [GRCh38]
Chr14:32329980 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1621C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110250] |
Chr14:31860801 [GRCh38]
Chr14:32330007 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.693+10_693+17del |
deletion |
not provided [RCV003106458] |
Chr14:31826722..31826729 [GRCh38]
Chr14:32295928..32295935 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.383-5T>C |
single nucleotide variant |
not provided [RCV003106384] |
Chr14:31673350 [GRCh38]
Chr14:32142556 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.513+41190A>T |
single nucleotide variant |
not provided [RCV001679657] |
Chr14:31714764 [GRCh38]
Chr14:32183970 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.383-67del |
deletion |
not provided [RCV001716143] |
Chr14:31673280 [GRCh38]
Chr14:32142486 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.814+104A>G |
single nucleotide variant |
not provided [RCV001716242] |
Chr14:31846695 [GRCh38]
Chr14:32315901 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.383-132G>A |
single nucleotide variant |
not provided [RCV001613820] |
Chr14:31673223 [GRCh38]
Chr14:32142429 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.257-73A>T |
single nucleotide variant |
not provided [RCV001715397] |
Chr14:31564941 [GRCh38]
Chr14:32034147 [GRCh37]
Chr14:14q12 |
benign |
| NC_000014.9:g.31561084del |
deletion |
not provided [RCV001696664] |
Chr14:31561084 [GRCh38]
Chr14:32030290 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.513+41068C>T |
single nucleotide variant |
not provided [RCV001718564] |
Chr14:31714642 [GRCh38]
Chr14:32183848 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.109-103G>A |
single nucleotide variant |
not provided [RCV001562926] |
Chr14:31561965 [GRCh38]
Chr14:32031171 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.291+12585C>T |
single nucleotide variant |
not provided [RCV001570559] |
Chr14:31577633 [GRCh38]
Chr14:32046839 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.108+217G>C |
single nucleotide variant |
not provided [RCV001563445] |
Chr14:31561764 [GRCh38]
Chr14:32030970 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.608-192A>C |
single nucleotide variant |
not provided [RCV001558782] |
Chr14:31826437 [GRCh38]
Chr14:32295643 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.513+40918T>C |
single nucleotide variant |
not provided [RCV001640994] |
Chr14:31714492 [GRCh38]
Chr14:32183698 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.608-63T>A |
single nucleotide variant |
not provided [RCV001636595] |
Chr14:31826566 [GRCh38]
Chr14:32295772 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.694-218_694-217del |
microsatellite |
not provided [RCV001652955] |
Chr14:31846250..31846251 [GRCh38]
Chr14:32315456..32315457 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.693+98A>G |
single nucleotide variant |
not provided [RCV001718563] |
Chr14:31826812 [GRCh38]
Chr14:32296018 [GRCh37]
Chr14:14q12 |
benign |
| NC_000014.9:g.31561189T>G |
single nucleotide variant |
not provided [RCV001620345] |
Chr14:31561189 [GRCh38]
Chr14:32030395 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.109-29C>T |
single nucleotide variant |
not provided [RCV001621246] |
Chr14:31562039 [GRCh38]
Chr14:32031245 [GRCh37]
Chr14:14q12 |
benign |
| GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 |
copy number gain |
not provided [RCV001006605] |
Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2 |
pathogenic |
| NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110083]|not provided [RCV002556155] |
Chr14:31561443 [GRCh38]
Chr14:32030649 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110084] |
Chr14:31561464 [GRCh38]
Chr14:32030670 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110085]|not provided [RCV001823182] |
Chr14:31561510 [GRCh38]
Chr14:32030716 [GRCh37]
Chr14:14q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_025152.3(NUBPL):c.*72T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110155] |
Chr14:31859252 [GRCh38]
Chr14:32328458 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*237G>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110156] |
Chr14:31859417 [GRCh38]
Chr14:32328623 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*806A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001112911]|not provided [RCV004693685] |
Chr14:31859986 [GRCh38]
Chr14:32329192 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*850C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001112913] |
Chr14:31860030 [GRCh38]
Chr14:32329236 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1655A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110251] |
Chr14:31860835 [GRCh38]
Chr14:32330041 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.351G>A (p.Met117Ile) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV001171379] |
Chr14:31599348 [GRCh38]
Chr14:32068554 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic |
| NM_025152.3(NUBPL):c.90G>A (p.Ala30=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001110846] |
Chr14:31561529 [GRCh38]
Chr14:32030735 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*1768G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001111000] |
Chr14:31860948 [GRCh38]
Chr14:32330154 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.513+121C>T |
single nucleotide variant |
not provided [RCV001686003] |
Chr14:31673695 [GRCh38]
Chr14:32142901 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.693+142_693+144del |
deletion |
not provided [RCV001646035] |
Chr14:31826856..31826858 [GRCh38]
Chr14:32296062..32296064 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.694-206del |
deletion |
not provided [RCV001648436] |
Chr14:31846263 [GRCh38]
Chr14:32315469 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.607+274del |
deletion |
not provided [RCV001572377] |
Chr14:31788143 [GRCh38]
Chr14:32257349 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.777A>G (p.Ala259=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001114185] |
Chr14:31846554 [GRCh38]
Chr14:32315760 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.*736C>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001112909]|not provided [RCV002264189] |
Chr14:31859916 [GRCh38]
Chr14:32329122 [GRCh37]
Chr14:14q12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 |
copy number gain |
not provided [RCV001249358] |
Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1 |
not provided |
| NUBPL, 240-KB DEL AND 130-KB DUP |
complex |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV000000018]|Parkinson disease, late-onset [RCV001256005] |
Chr14:31867179..32280475 [GRCh37]
Chr14:14q12 |
pathogenic |
| GRCh37/hg19 14q12(chr14:31822348-32145517)x3 |
copy number gain |
not provided [RCV001259655] |
Chr14:31822348..32145517 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q12(chr14:31960362-32248251)x1 |
copy number loss |
not provided [RCV001259656] |
Chr14:31960362..32248251 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.257-2A>G |
single nucleotide variant |
Inborn genetic diseases [RCV001266690] |
Chr14:31565012 [GRCh38]
Chr14:32034218 [GRCh37]
Chr14:14q12 |
likely pathogenic |
| NM_025152.3(NUBPL):c.383-5dup |
duplication |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV001788558]|not provided [RCV001515759] |
Chr14:31673338..31673339 [GRCh38]
Chr14:32142544..32142545 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.108+14C>T |
single nucleotide variant |
not provided [RCV001457663] |
Chr14:31561561 [GRCh38]
Chr14:32030767 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.257-293del |
deletion |
not provided [RCV001650466] |
Chr14:31564719 [GRCh38]
Chr14:32033925 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.898-92C>T |
single nucleotide variant |
not provided [RCV001725568] |
Chr14:31859026 [GRCh38]
Chr14:32328232 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.513+41069A>G |
single nucleotide variant |
not provided [RCV001669304] |
Chr14:31714643 [GRCh38]
Chr14:32183849 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.693+147A>C |
single nucleotide variant |
not provided [RCV001643723] |
Chr14:31826861 [GRCh38]
Chr14:32296067 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.383-5del |
deletion |
not provided [RCV001512245] |
Chr14:31673339 [GRCh38]
Chr14:32142545 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.898-212C>T |
single nucleotide variant |
not provided [RCV001710857] |
Chr14:31858906 [GRCh38]
Chr14:32328112 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.291+12963T>C |
single nucleotide variant |
not provided [RCV001609886] |
Chr14:31578011 [GRCh38]
Chr14:32047217 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.693+145A>G |
single nucleotide variant |
not provided [RCV001716240] |
Chr14:31826859 [GRCh38]
Chr14:32296065 [GRCh37]
Chr14:14q12 |
benign |
| GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) |
copy number gain |
Seizure [RCV002280625] |
Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3 |
pathogenic |
| NM_025152.3(NUBPL):c.513+41027C>T |
single nucleotide variant |
not provided [RCV001800081] |
Chr14:31714601 [GRCh38]
Chr14:32183807 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.316G>A (p.Val106Met) |
single nucleotide variant |
not provided [RCV001762923] |
Chr14:31599313 [GRCh38]
Chr14:32068519 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.607+3A>G |
single nucleotide variant |
not provided [RCV001970657] |
Chr14:31787876 [GRCh38]
Chr14:32257082 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.682G>A (p.Val228Ile) |
single nucleotide variant |
not provided [RCV001949998] |
Chr14:31826703 [GRCh38]
Chr14:32295909 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.256+6A>G |
single nucleotide variant |
NUBPL-related disorder [RCV003958431]|not provided [RCV001948982] |
Chr14:31562221 [GRCh38]
Chr14:32031427 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.298G>A (p.Ala100Thr) |
single nucleotide variant |
NUBPL-related disorder [RCV003408065]|not provided [RCV002010477] |
Chr14:31599295 [GRCh38]
Chr14:32068501 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.382+3A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002548015]|not provided [RCV001907327] |
Chr14:31599382 [GRCh38]
Chr14:32068588 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.460G>A (p.Val154Ile) |
single nucleotide variant |
not provided [RCV001900043] |
Chr14:31673521 [GRCh38]
Chr14:32142727 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.86G>A (p.Arg29Gln) |
single nucleotide variant |
not provided [RCV001951614] |
Chr14:31561525 [GRCh38]
Chr14:32030731 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.423T>A (p.Cys141Ter) |
single nucleotide variant |
not provided [RCV001877896] |
Chr14:31673484 [GRCh38]
Chr14:32142690 [GRCh37]
Chr14:14q12 |
pathogenic|uncertain significance |
| NM_025152.3(NUBPL):c.383-6_383-5dup |
duplication |
not provided [RCV002110441] |
Chr14:31673338..31673339 [GRCh38]
Chr14:32142544..32142545 [GRCh37]
Chr14:14q12 |
benign |
| NM_025152.3(NUBPL):c.324G>A (p.Val108=) |
single nucleotide variant |
not provided [RCV002127959] |
Chr14:31599321 [GRCh38]
Chr14:32068527 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.693+7G>A |
single nucleotide variant |
not provided [RCV002147786] |
Chr14:31826721 [GRCh38]
Chr14:32295927 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.383-16_383-15insC |
insertion |
not provided [RCV002092127] |
Chr14:31673339..31673340 [GRCh38]
Chr14:32142545..32142546 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.237C>G (p.Val79=) |
single nucleotide variant |
not provided [RCV002203436] |
Chr14:31562196 [GRCh38]
Chr14:32031402 [GRCh37]
Chr14:14q12 |
likely benign |
| NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del |
deletion |
Brain-lung-thyroid syndrome [RCV002221171] |
Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3 |
pathogenic |
| NM_025152.3(NUBPL):c.815-15G>A |
single nucleotide variant |
not provided [RCV002176097] |
Chr14:31850104 [GRCh38]
Chr14:32319310 [GRCh37]
Chr14:14q12 |
likely benign |
| NC_000014.8:g.(?_32319298)_(32319427_?)del |
deletion |
not provided [RCV003122759] |
Chr14:32319298..32319427 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NC_000014.8:g.(?_32068475)_(32068605_?)del |
deletion |
not provided [RCV003122760] |
Chr14:32068475..32068605 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NC_000014.8:g.(?_32319298)_(32328386_?)del |
deletion |
not provided [RCV003122761] |
Chr14:32319298..32328386 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.920C>T (p.Ala307Val) |
single nucleotide variant |
not provided [RCV002996233] |
Chr14:31859140 [GRCh38]
Chr14:32328346 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1 |
copy number loss |
not provided [RCV002475721] |
Chr14:24959823..33415359 [GRCh37]
Chr14:14q12-13.1 |
pathogenic |
| NM_025152.3(NUBPL):c.677G>C (p.Arg226Pro) |
single nucleotide variant |
not provided [RCV002843636] |
Chr14:31826698 [GRCh38]
Chr14:32295904 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.260A>G (p.Asn87Ser) |
single nucleotide variant |
not provided [RCV002972017] |
Chr14:31565017 [GRCh38]
Chr14:32034223 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.579A>G (p.Leu193=) |
single nucleotide variant |
not provided [RCV002908925] |
Chr14:31787845 [GRCh38]
Chr14:32257051 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.292-17T>C |
single nucleotide variant |
not provided [RCV002862926] |
Chr14:31599272 [GRCh38]
Chr14:32068478 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.345G>A (p.Lys115=) |
single nucleotide variant |
not provided [RCV002837874] |
Chr14:31599342 [GRCh38]
Chr14:32068548 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.895G>C (p.Glu299Gln) |
single nucleotide variant |
not provided [RCV002760981] |
Chr14:31850199 [GRCh38]
Chr14:32319405 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.898-16G>C |
single nucleotide variant |
not provided [RCV003020875] |
Chr14:31859102 [GRCh38]
Chr14:32328308 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.694-20T>G |
single nucleotide variant |
not provided [RCV002572165] |
Chr14:31846451 [GRCh38]
Chr14:32315657 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.201A>G (p.Lys67=) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV003134467]|NUBPL-related disorder [RCV003971349]|not provided [RCV002622940] |
Chr14:31562160 [GRCh38]
Chr14:32031366 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_025152.3(NUBPL):c.17G>A (p.Arg6His) |
single nucleotide variant |
Inborn genetic diseases [RCV002912207] |
Chr14:31561456 [GRCh38]
Chr14:32030662 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.875T>G (p.Phe292Cys) |
single nucleotide variant |
not provided [RCV002570881] |
Chr14:31850179 [GRCh38]
Chr14:32319385 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.430A>G (p.Met144Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002759279] |
Chr14:31673491 [GRCh38]
Chr14:32142697 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.763G>A (p.Gly255Ser) |
single nucleotide variant |
not provided [RCV003035326] |
Chr14:31846540 [GRCh38]
Chr14:32315746 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.291G>A (p.Ser97=) |
single nucleotide variant |
not provided [RCV002576047] |
Chr14:31565048 [GRCh38]
Chr14:32034254 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.74T>C (p.Leu25Pro) |
single nucleotide variant |
not provided [RCV002625418] |
Chr14:31561513 [GRCh38]
Chr14:32030719 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.608-8T>C |
single nucleotide variant |
not provided [RCV003008236] |
Chr14:31826621 [GRCh38]
Chr14:32295827 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.218C>A (p.Ala73Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003162015]|not provided [RCV002643852] |
Chr14:31562177 [GRCh38]
Chr14:32031383 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.652G>A (p.Ala218Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002893635] |
Chr14:31826673 [GRCh38]
Chr14:32295879 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.608-13T>G |
single nucleotide variant |
not provided [RCV002828786] |
Chr14:31826616 [GRCh38]
Chr14:32295822 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.814+16G>A |
single nucleotide variant |
not provided [RCV002711607] |
Chr14:31846607 [GRCh38]
Chr14:32315813 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.693+18C>A |
single nucleotide variant |
not provided [RCV002594291] |
Chr14:31826732 [GRCh38]
Chr14:32295938 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.117C>T (p.Gly39=) |
single nucleotide variant |
not provided [RCV002852938] |
Chr14:31562076 [GRCh38]
Chr14:32031282 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.179A>G (p.Gln60Arg) |
single nucleotide variant |
not provided [RCV002646548] |
Chr14:31562138 [GRCh38]
Chr14:32031344 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.792G>C (p.Gln264His) |
single nucleotide variant |
not provided [RCV002856585] |
Chr14:31846569 [GRCh38]
Chr14:32315775 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.414T>G (p.Gly138=) |
single nucleotide variant |
not provided [RCV002646635] |
Chr14:31673386 [GRCh38]
Chr14:32142592 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.176A>G (p.Lys59Arg) |
single nucleotide variant |
not provided [RCV002937153] |
Chr14:31562135 [GRCh38]
Chr14:32031341 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.109-4A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002702989] |
Chr14:31562064 [GRCh38]
Chr14:32031270 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.210A>G (p.Ile70Met) |
single nucleotide variant |
not provided [RCV002856584] |
Chr14:31562169 [GRCh38]
Chr14:32031375 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.61G>A (p.Ala21Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004070504]|not provided [RCV002607046] |
Chr14:31561500 [GRCh38]
Chr14:32030706 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.662G>T (p.Gly221Val) |
single nucleotide variant |
not provided [RCV002654501] |
Chr14:31826683 [GRCh38]
Chr14:32295889 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.513+19A>G |
single nucleotide variant |
not provided [RCV002588828] |
Chr14:31673593 [GRCh38]
Chr14:32142799 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.549C>T (p.Asp183=) |
single nucleotide variant |
not provided [RCV002587569] |
Chr14:31787815 [GRCh38]
Chr14:32257021 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.514-19835C>A |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV003131840] |
Chr14:31767945 [GRCh38]
Chr14:32237151 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.308T>A (p.Leu103Ter) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV003133089] |
Chr14:31599305 [GRCh38]
Chr14:32068511 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.927A>T (p.Glu309Asp) |
single nucleotide variant |
not provided [RCV003218906] |
Chr14:31859147 [GRCh38]
Chr14:32328353 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV003133088] |
Chr14:31673358 [GRCh38]
Chr14:32142564 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.601A>G (p.Ile201Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003205957] |
Chr14:31787867 [GRCh38]
Chr14:32257073 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NC_000014.8:g.(32315798_32319324)_(32319408_32328323)del |
deletion |
not specified [RCV003324240] |
Chr14:32319324..32319408 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.523G>A (p.Gly175Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003356280]|not provided [RCV003481492] |
Chr14:31787789 [GRCh38]
Chr14:32256995 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.893A>C (p.Asp298Ala) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV003448806] |
Chr14:31850197 [GRCh38]
Chr14:32319403 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q12(chr14:32023559-32313036)x1 |
copy number loss |
not provided [RCV003483198] |
Chr14:32023559..32313036 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 |
copy number gain |
not provided [RCV003485022] |
Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1 |
pathogenic |
| NC_000014.8:g.(32142781_32256985)_(32257080_32295834)del |
deletion |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV003479742] |
Chr14:32256985..32257080 [GRCh37]
Chr14:14q12 |
pathogenic |
| GRCh37/hg19 14q12(chr14:31841456-32165895)x3 |
copy number gain |
not provided [RCV003485028] |
Chr14:31841456..32165895 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.611C>T (p.Ala204Val) |
single nucleotide variant |
not provided [RCV003442668] |
Chr14:31826632 [GRCh38]
Chr14:32295838 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.474C>A (p.Gly158=) |
single nucleotide variant |
not provided [RCV003827757] |
Chr14:31673535 [GRCh38]
Chr14:32142741 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.864G>A (p.Gln288=) |
single nucleotide variant |
not provided [RCV003689391] |
Chr14:31850168 [GRCh38]
Chr14:32319374 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.108+7G>A |
single nucleotide variant |
not provided [RCV003855460] |
Chr14:31561554 [GRCh38]
Chr14:32030760 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.105C>A (p.Arg35=) |
single nucleotide variant |
not provided [RCV003559252] |
Chr14:31561544 [GRCh38]
Chr14:32030750 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.423-1G>T |
single nucleotide variant |
not provided [RCV003818348] |
Chr14:31673483 [GRCh38]
Chr14:32142689 [GRCh37]
Chr14:14q12 |
likely pathogenic |
| GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1 |
copy number loss |
not specified [RCV003987053] |
Chr14:29190489..45325177 [GRCh37]
Chr14:14q12-21.2 |
pathogenic |
| NM_025152.3(NUBPL):c.192A>G (p.Glu64=) |
single nucleotide variant |
not provided [RCV003556819] |
Chr14:31562151 [GRCh38]
Chr14:32031357 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_025152.3(NUBPL):c.163C>T (p.Arg55Ter) |
single nucleotide variant |
not provided [RCV003710987] |
Chr14:31562122 [GRCh38]
Chr14:32031328 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_025152.3(NUBPL):c.468G>T (p.Trp156Cys) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 21 [RCV003990339] |
Chr14:31673529 [GRCh38]
Chr14:32142735 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.169C>G (p.Leu57Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004496105] |
Chr14:31562128 [GRCh38]
Chr14:32031334 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.721G>C (p.Val241Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004496107] |
Chr14:31846498 [GRCh38]
Chr14:32315704 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.569A>T (p.Asp190Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004496106] |
Chr14:31787835 [GRCh38]
Chr14:32257041 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.688G>A (p.Val230Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004638817] |
Chr14:31826709 [GRCh38]
Chr14:32295915 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NC_000014.8:g.(?_30046444)_(32635573_?)del |
deletion |
Spastic paraplegia [RCV004578072] |
Chr14:30046444..32635573 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_025152.3(NUBPL):c.522G>C (p.Trp174Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004652608] |
Chr14:31787788 [GRCh38]
Chr14:32256994 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.407A>G (p.Asn136Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004652606] |
Chr14:31673379 [GRCh38]
Chr14:32142585 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_025152.3(NUBPL):c.41C>T (p.Ser14Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004652607] |
Chr14:31561480 [GRCh38]
Chr14:32030686 [GRCh37]
Chr14:14q12 |
uncertain significance |
