| NM_003937.2(KYNU):c.373+4412G>T |
single nucleotide variant |
Lung cancer [RCV000091497] |
Chr2:142932153 [GRCh38]
Chr2:143689722 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1 |
copy number loss |
See cases [RCV000051018] |
Chr2:140186521..146528244 [GRCh38]
Chr2:140944090..147285812 [GRCh37]
Chr2:140660560..147002282 [NCBI36]
Chr2:2q22.1-22.3 |
pathogenic |
| GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1 |
copy number loss |
See cases [RCV000054086] |
Chr2:141666537..147845662 [GRCh38]
Chr2:142424106..148603231 [GRCh37]
Chr2:142140576..148319701 [NCBI36]
Chr2:2q22.2-22.3 |
pathogenic |
| NM_003937.2(KYNU):c.169+1G>A |
single nucleotide variant |
Malignant melanoma [RCV000060344] |
Chr2:142885537 [GRCh38]
Chr2:143643106 [GRCh37]
Chr2:143359576 [NCBI36]
Chr2:2q22.2 |
not provided |
| NM_003937.3(KYNU):c.592A>G (p.Thr198Ala) |
single nucleotide variant |
Hydroxykynureninuria [RCV000148021] |
Chr2:142960633 [GRCh38]
Chr2:143718202 [GRCh37]
Chr2:2q22.2 |
pathogenic|likely pathogenic|not provided |
| NM_003937.3(KYNU):c.563G>A (p.Arg188Gln) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003387772]|not provided [RCV000148022] |
Chr2:142957696 [GRCh38]
Chr2:143715265 [GRCh37]
Chr2:2q22.2 |
uncertain significance|not provided |
| GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1 |
copy number loss |
See cases [RCV000137506] |
Chr2:136937358..146681810 [GRCh38]
Chr2:137694928..147439378 [GRCh37]
Chr2:137411398..147155848 [NCBI36]
Chr2:2q22.1-22.3 |
pathogenic |
| GRCh38/hg38 2q22.1-22.2(chr2:140659197-142948096)x3 |
copy number gain |
See cases [RCV000137664] |
Chr2:140659197..142948096 [GRCh38]
Chr2:141416766..143705665 [GRCh37]
Chr2:141133236..143422135 [NCBI36]
Chr2:2q22.1-22.2 |
uncertain significance |
| GRCh38/hg38 2q22.2(chr2:142197989-143208649)x3 |
copy number gain |
See cases [RCV000143645] |
Chr2:142197989..143208649 [GRCh38]
Chr2:142955558..143966218 [GRCh37]
Chr2:142672028..143682688 [NCBI36]
Chr2:2q22.2 |
likely benign|uncertain significance |
| GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)x1 |
copy number loss |
See cases [RCV000449099] |
Chr2:138578298..144874187 [GRCh37]
Chr2:2q22.1-22.3 |
likely pathogenic |
| Single allele |
duplication |
MBD5 associated neurodevelopmental disorder [RCV000454618] |
Chr2:140621941..149324662 [GRCh37]
Chr2:2q22.1-23.1 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) |
single nucleotide variant |
Congenital NAD deficiency disorder [RCV000496184]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV000505808]|not provided [RCV000522905] |
Chr2:142956235 [GRCh38]
Chr2:143713804 [GRCh37]
Chr2:2q22.2 |
pathogenic|likely pathogenic |
| NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) |
deletion |
Congenital NAD deficiency disorder [RCV000496114]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV000505812]|not provided [RCV000520521] |
Chr2:143040430..143040436 [GRCh38]
Chr2:143797999..143798005 [GRCh37]
Chr2:2q22.2 |
pathogenic|likely pathogenic |
| NM_003937.3(KYNU):c.170-1G>T |
single nucleotide variant |
Congenital NAD deficiency disorder [RCV000496147]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV000505804] |
Chr2:142918608 [GRCh38]
Chr2:143676177 [GRCh37]
Chr2:2q22.2 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003937.3(KYNU):c.1073G>A (p.Arg358Gln) |
single nucleotide variant |
not specified [RCV004330898] |
Chr2:143040459 [GRCh38]
Chr2:143798028 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] |
Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3 |
drug response |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003937.3(KYNU):c.759T>C (p.His253=) |
single nucleotide variant |
not provided [RCV000894540] |
Chr2:142985113 [GRCh38]
Chr2:143742682 [GRCh37]
Chr2:2q22.2 |
benign |
| NM_003937.3(KYNU):c.303T>C (p.Gly101=) |
single nucleotide variant |
not provided [RCV000894981] |
Chr2:142927671 [GRCh38]
Chr2:143685240 [GRCh37]
Chr2:2q22.2 |
likely benign |
| NM_003937.3(KYNU):c.585G>A (p.Gly195=) |
single nucleotide variant |
not provided [RCV000883675] |
Chr2:142960626 [GRCh38]
Chr2:143718195 [GRCh37]
Chr2:2q22.2 |
benign |
| NM_003937.3(KYNU):c.732T>C (p.Gly244=) |
single nucleotide variant |
not provided [RCV000915143] |
Chr2:142985086 [GRCh38]
Chr2:143742655 [GRCh37]
Chr2:2q22.2 |
likely benign |
| NM_003937.3(KYNU):c.291-7A>G |
single nucleotide variant |
not provided [RCV000904248]|not specified [RCV003479242] |
Chr2:142927652 [GRCh38]
Chr2:143685221 [GRCh37]
Chr2:2q22.2 |
likely benign|uncertain significance |
| NM_003937.3(KYNU):c.74C>T (p.Thr25Met) |
single nucleotide variant |
not provided [RCV000972582] |
Chr2:142885441 [GRCh38]
Chr2:143643010 [GRCh37]
Chr2:2q22.2 |
benign |
| NM_003937.3(KYNU):c.123C>T (p.His41=) |
single nucleotide variant |
not provided [RCV000966826] |
Chr2:142885490 [GRCh38]
Chr2:143643059 [GRCh37]
Chr2:2q22.2 |
benign |
| NM_003937.3(KYNU):c.729+9G>A |
single nucleotide variant |
not provided [RCV000883088] |
Chr2:142960779 [GRCh38]
Chr2:143718348 [GRCh37]
Chr2:2q22.2 |
benign |
| NM_003937.3(KYNU):c.828+9G>A |
single nucleotide variant |
not provided [RCV000974004] |
Chr2:142985191 [GRCh38]
Chr2:143742760 [GRCh37]
Chr2:2q22.2 |
likely benign |
| NM_003937.3(KYNU):c.195T>C (p.Asp65=) |
single nucleotide variant |
not provided [RCV000936487] |
Chr2:142918634 [GRCh38]
Chr2:143676203 [GRCh37]
Chr2:2q22.2 |
likely benign |
| NM_003937.3(KYNU):c.828+8C>T |
single nucleotide variant |
not provided [RCV000943103] |
Chr2:142985190 [GRCh38]
Chr2:143742759 [GRCh37]
Chr2:2q22.2 |
likely benign |
| NM_003937.3(KYNU):c.60C>T (p.Leu20=) |
single nucleotide variant |
KYNU-related disorder [RCV004553522]|not provided [RCV000982675] |
Chr2:142885427 [GRCh38]
Chr2:143642996 [GRCh37]
Chr2:2q22.2 |
likely benign |
| NM_003937.3(KYNU):c.1260A>G (p.Lys420=) |
single nucleotide variant |
not provided [RCV000982501] |
Chr2:143040646 [GRCh38]
Chr2:143798215 [GRCh37]
Chr2:2q22.2 |
likely benign |
| GRCh37/hg19 2q22.2-22.3(chr2:143192287-144325954)x3 |
copy number gain |
not provided [RCV000849947] |
Chr2:143192287..144325954 [GRCh37]
Chr2:2q22.2-22.3 |
uncertain significance |
| GRCh37/hg19 2q22.2(chr2:143290896-143804910)x3 |
copy number gain |
not provided [RCV000847135] |
Chr2:143290896..143804910 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.26C>T (p.Pro9Leu) |
single nucleotide variant |
not specified [RCV004289504] |
Chr2:142885393 [GRCh38]
Chr2:143642962 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.121C>T (p.His41Tyr) |
single nucleotide variant |
not provided [RCV000901517] |
Chr2:142885488 [GRCh38]
Chr2:143643057 [GRCh37]
Chr2:2q22.2 |
likely benign |
| NM_003937.3(KYNU):c.1047T>C (p.Phe349=) |
single nucleotide variant |
KYNU-related disorder [RCV004740491]|not provided [RCV000889456] |
Chr2:143040433 [GRCh38]
Chr2:143798002 [GRCh37]
Chr2:2q22.2 |
benign|likely benign |
| GRCh37/hg19 2q22.2(chr2:142738538-143643346)x3 |
copy number gain |
not provided [RCV001005325] |
Chr2:142738538..143643346 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| Single allele |
deletion |
Mowat-Wilson syndrome [RCV001250753] |
Chr2:137639637..146827604 [GRCh37]
Chr2:2q22.1-22.3 |
pathogenic |
| NC_000002.12:g.142877008_142961693del |
deletion |
Catel-Manzke syndrome [RCV001256672] |
Chr2:142877008..142961693 [GRCh38]
Chr2:143634577..143719262 [GRCh37]
Chr2:2q22.2 |
pathogenic |
| NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp) |
single nucleotide variant |
Catel-Manzke syndrome [RCV001256673]|Congenital NAD deficiency disorder [RCV001391067]|not provided [RCV003313200] |
Chr2:143042056 [GRCh38]
Chr2:143799625 [GRCh37]
Chr2:2q22.2 |
pathogenic|likely pathogenic |
| NM_003937.3(KYNU):c.989G>A (p.Arg330Gln) |
single nucleotide variant |
Catel-Manzke syndrome [RCV001256674] |
Chr2:143033269 [GRCh38]
Chr2:143790838 [GRCh37]
Chr2:2q22.2 |
pathogenic |
| NM_003937.3(KYNU):c.326G>C (p.Trp109Ser) |
single nucleotide variant |
Catel-Manzke syndrome [RCV001256675] |
Chr2:142927694 [GRCh38]
Chr2:143685263 [GRCh37]
Chr2:2q22.2 |
pathogenic |
| GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396) |
copy number gain |
Global developmental delay [RCV001352659] |
Chr2:136473383..152727396 [GRCh37]
Chr2:2q21.3-23.3 |
pathogenic |
| NM_003937.3(KYNU):c.788A>G (p.His263Arg) |
single nucleotide variant |
Congenital NAD deficiency disorder [RCV001391062]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883466] |
Chr2:142985142 [GRCh38]
Chr2:143742711 [GRCh37]
Chr2:2q22.2 |
pathogenic |
| NM_003937.3(KYNU):c.616G>A (p.Glu206Lys) |
single nucleotide variant |
Congenital NAD deficiency disorder [RCV001391063]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883467] |
Chr2:142960657 [GRCh38]
Chr2:143718226 [GRCh37]
Chr2:2q22.2 |
pathogenic|likely pathogenic |
| NM_003937.3(KYNU):c.361_363del (p.Lys121del) |
deletion |
Congenital NAD deficiency disorder [RCV001391064]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883468] |
Chr2:142927728..142927730 [GRCh38]
Chr2:143685297..143685299 [GRCh37]
Chr2:2q22.2 |
pathogenic|likely pathogenic |
| NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg) |
single nucleotide variant |
Congenital NAD deficiency disorder [RCV001391065]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883469] |
Chr2:143033315 [GRCh38]
Chr2:143790884 [GRCh37]
Chr2:2q22.2 |
pathogenic|likely pathogenic |
| NM_003937.3(KYNU):c.489del (p.Ala164fs) |
deletion |
Congenital NAD deficiency disorder [RCV001391066]|not provided [RCV004727068] |
Chr2:142956254 [GRCh38]
Chr2:143713823 [GRCh37]
Chr2:2q22.2 |
pathogenic |
| NM_003937.3(KYNU):c.955+26C>T |
single nucleotide variant |
Hydroxykynureninuria [RCV001731086]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV001731087]|not provided [RCV004709134] |
Chr2:143029705 [GRCh38]
Chr2:143787274 [GRCh37]
Chr2:2q22.2 |
benign |
| NM_003937.3(KYNU):c.256dup (p.Tyr86fs) |
duplication |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003326157]|not provided [RCV001782359] |
Chr2:142918694..142918695 [GRCh38]
Chr2:143676263..143676264 [GRCh37]
Chr2:2q22.2 |
pathogenic|likely pathogenic |
| NM_003937.3(KYNU):c.902+1G>A |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV001808860] |
Chr2:142986022 [GRCh38]
Chr2:143743591 [GRCh37]
Chr2:2q22.2 |
likely pathogenic |
| NM_003937.3(KYNU):c.455C>T (p.Thr152Met) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV001808094]|not specified [RCV004040928] |
Chr2:142956222 [GRCh38]
Chr2:143713791 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3 |
copy number gain |
not provided [RCV001834428] |
Chr2:142409401..152680804 [GRCh37]
Chr2:2q22.2-23.3 |
pathogenic |
| GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 |
copy number loss |
not provided [RCV001832883] |
Chr2:122699106..143799629 [GRCh37]
Chr2:2q14.3-22.2 |
pathogenic |
| GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819) |
copy number loss |
not specified [RCV002053238] |
Chr2:143258712..152867819 [GRCh37]
Chr2:2q22.2-23.3 |
pathogenic |
| GRCh37/hg19 2q22.2(chr2:143440277-143686832) |
copy number gain |
not specified [RCV002053239] |
Chr2:143440277..143686832 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 |
copy number gain |
not provided [RCV001832896] |
Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3 |
pathogenic |
| GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187) |
copy number loss |
not specified [RCV002053235] |
Chr2:138578298..144874187 [GRCh37]
Chr2:2q22.1-22.3 |
likely pathogenic |
| GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 |
copy number gain |
2q13q22.3 microduplication syndrome [RCV002226436] |
Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003937.3(KYNU):c.890C>T (p.Thr297Met) |
single nucleotide variant |
not provided [RCV004776696] |
Chr2:142986009 [GRCh38]
Chr2:143743578 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.773T>C (p.Val258Ala) |
single nucleotide variant |
Hydroxykynureninuria [RCV002249093] |
Chr2:142985127 [GRCh38]
Chr2:143742696 [GRCh37]
Chr2:2q22.2 |
likely pathogenic |
| NM_003937.3(KYNU):c.374-2A>G |
single nucleotide variant |
not provided [RCV002275699] |
Chr2:142954808 [GRCh38]
Chr2:143712377 [GRCh37]
Chr2:2q22.2 |
not provided |
| NM_003937.3(KYNU):c.374-433_435+369del |
deletion |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV002265065] |
Chr2:142954376..142955239 [GRCh38]
Chr2:143711945..143712808 [GRCh37]
Chr2:2q22.2 |
pathogenic |
| NM_003937.3(KYNU):c.199A>G (p.Asn67Asp) |
single nucleotide variant |
not specified [RCV004307616] |
Chr2:142918638 [GRCh38]
Chr2:143676207 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| GRCh37/hg19 2q22.2(chr2:143610406-143881574)x3 |
copy number gain |
not provided [RCV002474638] |
Chr2:143610406..143881574 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.758A>G (p.His253Arg) |
single nucleotide variant |
not specified [RCV004296767] |
Chr2:142985112 [GRCh38]
Chr2:143742681 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.903-2A>C |
single nucleotide variant |
not provided [RCV002614948] |
Chr2:143029625 [GRCh38]
Chr2:143787194 [GRCh37]
Chr2:2q22.2 |
likely pathogenic |
| NM_003937.3(KYNU):c.574C>G (p.Pro192Ala) |
single nucleotide variant |
not specified [RCV004201495] |
Chr2:142957707 [GRCh38]
Chr2:143715276 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.967del (p.Ile323fs) |
deletion |
not provided [RCV002640483] |
Chr2:143033246 [GRCh38]
Chr2:143790815 [GRCh37]
Chr2:2q22.2 |
pathogenic |
| NM_003937.3(KYNU):c.601A>G (p.Ile201Val) |
single nucleotide variant |
not specified [RCV004145850] |
Chr2:142960642 [GRCh38]
Chr2:143718211 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.127A>G (p.Arg43Gly) |
single nucleotide variant |
not specified [RCV004134099] |
Chr2:142885494 [GRCh38]
Chr2:143643063 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.562C>T (p.Arg188Trp) |
single nucleotide variant |
not specified [RCV004186803] |
Chr2:142957695 [GRCh38]
Chr2:143715264 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.142A>T (p.Ile48Phe) |
single nucleotide variant |
not specified [RCV004124440] |
Chr2:142885509 [GRCh38]
Chr2:143643078 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.656T>C (p.Leu219Pro) |
single nucleotide variant |
not provided [RCV004778051] |
Chr2:142960697 [GRCh38]
Chr2:143718266 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.845C>T (p.Ala282Val) |
single nucleotide variant |
not specified [RCV004270364] |
Chr2:142985964 [GRCh38]
Chr2:143743533 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.85G>A (p.Val29Met) |
single nucleotide variant |
not specified [RCV004273063] |
Chr2:142885452 [GRCh38]
Chr2:143643021 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.1168A>G (p.Ile390Val) |
single nucleotide variant |
not specified [RCV004306687] |
Chr2:143040554 [GRCh38]
Chr2:143798123 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.865T>C (p.Phe289Leu) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003326203] |
Chr2:142985984 [GRCh38]
Chr2:143743553 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.510T>A (p.Tyr170Ter) |
single nucleotide variant |
KYNU-related disorder [RCV003335880] |
Chr2:142957643 [GRCh38]
Chr2:143715212 [GRCh37]
Chr2:2q22.2 |
likely pathogenic |
| NM_003937.3(KYNU):c.825C>A (p.Tyr275Ter) |
single nucleotide variant |
KYNU-related disorder [RCV003335881] |
Chr2:142985179 [GRCh38]
Chr2:143742748 [GRCh37]
Chr2:2q22.2 |
likely pathogenic |
| NM_003937.3(KYNU):c.518A>G (p.Glu173Gly) |
single nucleotide variant |
not specified [RCV004335772] |
Chr2:142957651 [GRCh38]
Chr2:143715220 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.735T>G (p.Cys245Trp) |
single nucleotide variant |
not specified [RCV003479743] |
Chr2:142985089 [GRCh38]
Chr2:143742658 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.373_373+3del |
deletion |
KYNU-related disorder [RCV004550769] |
Chr2:142927738..142927741 [GRCh38]
Chr2:143685307..143685310 [GRCh37]
Chr2:2q22.2 |
likely pathogenic |
| NM_003937.3:c.788A>G |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882757] |
|
pathogenic |
| NM_003937.3:c.361_363del |
deletion |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882759] |
|
pathogenic |
| NM_003937.3:c.1035T>A |
variation |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882760] |
|
pathogenic |
| NM_003937.3(KYNU):c.1041G>A (p.Glu347=) |
single nucleotide variant |
not provided [RCV003487982] |
Chr2:143033321 [GRCh38]
Chr2:143790890 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3:c.616G>A |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882758] |
|
pathogenic |
| GRCh37/hg19 2q22.2(chr2:143627015-143881574)x3 |
copy number gain |
not specified [RCV003986143] |
Chr2:143627015..143881574 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3 |
copy number gain |
not specified [RCV003986337] |
Chr2:134589311..149951291 [GRCh37]
Chr2:2q21.2-23.2 |
likely pathogenic |
| NM_003937.3(KYNU):c.1303G>A (p.Val435Met) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003990255] |
Chr2:143042077 [GRCh38]
Chr2:143799646 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1 |
copy number loss |
not provided [RCV003885493] |
Chr2:142681355..146293674 [GRCh37]
Chr2:2q22.2-22.3 |
pathogenic |
| NM_003937.3(KYNU):c.1178C>T (p.Pro393Leu) |
single nucleotide variant |
not specified [RCV004407038] |
Chr2:143040564 [GRCh38]
Chr2:143798133 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.1207C>A (p.Leu403Ile) |
single nucleotide variant |
not specified [RCV004407039] |
Chr2:143040593 [GRCh38]
Chr2:143798162 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.1232A>G (p.Asn411Ser) |
single nucleotide variant |
not specified [RCV004407040] |
Chr2:143040618 [GRCh38]
Chr2:143798187 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.170T>C (p.Val57Ala) |
single nucleotide variant |
not specified [RCV004407042] |
Chr2:142918609 [GRCh38]
Chr2:143676178 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.44G>A (p.Arg15His) |
single nucleotide variant |
not specified [RCV004407043] |
Chr2:142885411 [GRCh38]
Chr2:143642980 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.650T>C (p.Val217Ala) |
single nucleotide variant |
not provided [RCV004780709]|not specified [RCV004407044] |
Chr2:142960691 [GRCh38]
Chr2:143718260 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.725C>T (p.Ala242Val) |
single nucleotide variant |
not specified [RCV004407045] |
Chr2:142960766 [GRCh38]
Chr2:143718335 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.731G>T (p.Gly244Val) |
single nucleotide variant |
not specified [RCV004407046] |
Chr2:142985085 [GRCh38]
Chr2:143742654 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.764T>C (p.Val255Ala) |
single nucleotide variant |
not specified [RCV004407047] |
Chr2:142985118 [GRCh38]
Chr2:143742687 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.946A>G (p.Met316Val) |
single nucleotide variant |
not specified [RCV004407048] |
Chr2:143029670 [GRCh38]
Chr2:143787239 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.136T>C (p.Phe46Leu) |
single nucleotide variant |
not specified [RCV004639802] |
Chr2:142885503 [GRCh38]
Chr2:143643072 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.580G>A (p.Glu194Lys) |
single nucleotide variant |
not specified [RCV004639800] |
Chr2:142957713 [GRCh38]
Chr2:143715282 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.1335T>G (p.His445Gln) |
single nucleotide variant |
not specified [RCV004639799] |
Chr2:143042109 [GRCh38]
Chr2:143799678 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.818G>A (p.Cys273Tyr) |
single nucleotide variant |
not specified [RCV004639801] |
Chr2:142985172 [GRCh38]
Chr2:143742741 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.548T>C (p.Ile183Thr) |
single nucleotide variant |
not specified [RCV004639797] |
Chr2:142957681 [GRCh38]
Chr2:143715250 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.1072C>T (p.Arg358Trp) |
single nucleotide variant |
not specified [RCV004639798] |
Chr2:143040458 [GRCh38]
Chr2:143798027 [GRCh37]
Chr2:2q22.2 |
uncertain significance |
| NM_003937.3(KYNU):c.737dup (p.Tyr246Ter) |
duplication |
KYNU-related disorder [RCV004740949] |
Chr2:142985090..142985091 [GRCh38]
Chr2:143742659..143742660 [GRCh37]
Chr2:2q22.2 |
likely pathogenic |
| NM_003937.3(KYNU):c.-7A>T |
single nucleotide variant |
KYNU-related disorder [RCV004739929] |
Chr2:142885361 [GRCh38]
Chr2:143642930 [GRCh37]
Chr2:2q22.2 |
likely benign |
