GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3 |
copy number gain |
See cases [RCV000051910] |
Chr11:71164008..72309374 [GRCh38] Chr11:71088949..72020418 [GRCh37] Chr11:70552702..71698066 [NCBI36] Chr11:11q13.4 |
uncertain significance |
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 |
copy number loss |
See cases [RCV000142138] |
Chr11:68031693..71593495 [GRCh38] Chr11:67799160..71304541 [GRCh37] Chr11:67555736..70982189 [NCBI36] Chr11:11q13.2-13.4 |
likely pathogenic |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_018161.5(NADSYN1):c.1644G>C (p.Arg548Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003262303] |
Chr11:71490926 [GRCh38] Chr11:71201972 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1280C>T (p.Thr427Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003248152] |
Chr11:71482978 [GRCh38] Chr11:71194024 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.2021T>C (p.Phe674Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003277109] |
Chr11:71498479 [GRCh38] Chr11:71209525 [GRCh37] Chr11:11q13.4 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q13.4(chr11:71118826-71279571)x3 |
copy number gain |
not provided [RCV000750109] |
Chr11:71118826..71279571 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.924G>C (p.Ser308=) |
single nucleotide variant |
not provided [RCV000969608] |
Chr11:71480805 [GRCh38] Chr11:71191851 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.1138G>A (p.Val380Met) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV002501390]|not provided [RCV000881914] |
Chr11:71482013 [GRCh38] Chr11:71193059 [GRCh37] Chr11:11q13.4 |
benign|likely benign |
NM_018161.5(NADSYN1):c.1341C>T (p.Ile447=) |
single nucleotide variant |
not provided [RCV000959987] |
Chr11:71484333 [GRCh38] Chr11:71195379 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.1894-10C>T |
single nucleotide variant |
not provided [RCV000959988] |
Chr11:71498342 [GRCh38] Chr11:71209388 [GRCh37] Chr11:11q13.4 |
benign |
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002314649]|Smith-Lemli-Opitz syndrome [RCV000297594]|not provided [RCV000178841]|not specified [RCV003488428] |
Chr11:71442299 [GRCh38] Chr11:71153345 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1887G>A (p.Pro629=) |
single nucleotide variant |
not provided [RCV000962197] |
Chr11:71497605 [GRCh38] Chr11:71208651 [GRCh37] Chr11:11q13.4 |
benign |
GRCh37/hg19 11q13.4(chr11:71158840-71210308)x3 |
copy number gain |
not provided [RCV000849693] |
Chr11:71158840..71210308 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1166C>T (p.Ala389Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003273815] |
Chr11:71482864 [GRCh38] Chr11:71193910 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.220G>C (p.Val74Leu) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779284]|not provided [RCV001652036] |
Chr11:71458501 [GRCh38] Chr11:71169547 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.1860C>T (p.Leu620=) |
single nucleotide variant |
not provided [RCV000909727] |
Chr11:71497578 [GRCh38] Chr11:71208624 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.1773G>A (p.Met591Ile) |
single nucleotide variant |
not provided [RCV000910289] |
Chr11:71497491 [GRCh38] Chr11:71208537 [GRCh37] Chr11:11q13.4 |
benign |
NM_001360.3(DHCR7):c.99-4G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002311598]|Smith-Lemli-Opitz syndrome [RCV000538327]|not provided [RCV000428279]|not specified [RCV000079662] |
Chr11:71444219 [GRCh38] Chr11:71155265 [GRCh37] Chr11:11q13.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_018161.5(NADSYN1):c.744T>C (p.Ile248=) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779307]|not provided [RCV001677737] |
Chr11:71474472 [GRCh38] Chr11:71185518 [GRCh37] Chr11:11q13.4 |
benign |
GRCh37/hg19 11q13.4(chr11:71051703-71655505)x3 |
copy number gain |
not provided [RCV002472868] |
Chr11:71051703..71655505 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) |
single nucleotide variant |
Congenital NAD deficiency disorder [RCV001078184]|NADSYN1-related disorder [RCV003963002]|Neurodevelopmental delay [RCV002274118]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001035449]|not provided [RCV001532179] |
Chr11:71491856 [GRCh38] Chr11:71202902 [GRCh37] Chr11:11q13.4 |
pathogenic|likely pathogenic |
NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg) |
single nucleotide variant |
Congenital NAD deficiency disorder [RCV001078186]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003758992] |
Chr11:71455169 [GRCh38] Chr11:71166215 [GRCh37] Chr11:11q13.4 |
pathogenic |
NM_018161.5(NADSYN1):c.86-2A>C |
single nucleotide variant |
not provided [RCV001532178] |
Chr11:71455108 [GRCh38] Chr11:71166154 [GRCh37] Chr11:11q13.4 |
pathogenic |
NM_018161.5(NADSYN1):c.705T>C (p.Cys235=) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779266]|not provided [RCV001612019] |
Chr11:71474433 [GRCh38] Chr11:71185479 [GRCh37] Chr11:11q13.4 |
benign |
NC_000011.9:g.(?_71146401)_(71907241_?)dup |
duplication |
Cerebral folate transport deficiency [RCV001031374] |
Chr11:71146401..71907241 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1819del (p.Val607fs) |
deletion |
Congenital NAD deficiency disorder [RCV001078185]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001035450] |
Chr11:71497536 [GRCh38] Chr11:71208582 [GRCh37] Chr11:11q13.4 |
pathogenic |
NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu) |
single nucleotide variant |
Congenital NAD deficiency disorder [RCV001078187]|NADSYN1-related disorder [RCV003405294]|not provided [RCV004590090] |
Chr11:71464130 [GRCh38] Chr11:71175176 [GRCh37] Chr11:11q13.4 |
pathogenic|uncertain significance |
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) |
single nucleotide variant |
Congenital NAD deficiency disorder [RCV001078189]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001035452] |
Chr11:71474463 [GRCh38] Chr11:71185509 [GRCh37] Chr11:11q13.4 |
pathogenic |
NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter) |
single nucleotide variant |
Congenital NAD deficiency disorder [RCV001078188]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001035454] |
Chr11:71497557 [GRCh38] Chr11:71208603 [GRCh37] Chr11:11q13.4 |
pathogenic |
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001293858] |
Chr11:71485545 [GRCh38] Chr11:71196591 [GRCh37] Chr11:11q13.4 |
pathogenic|likely pathogenic |
Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NM_018161.5(NADSYN1):c.799-5T>C |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779933]|not provided [RCV004707709] |
Chr11:71478390 [GRCh38] Chr11:71189436 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.775T>A (p.Ser259Thr) |
single nucleotide variant |
not provided [RCV001765631] |
Chr11:71474503 [GRCh38] Chr11:71185549 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.408-21C>T |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779930]|not provided [RCV004707707] |
Chr11:71472428 [GRCh38] Chr11:71183474 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.612A>C (p.Gln204His) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779932]|not provided [RCV004709140] |
Chr11:71473632 [GRCh38] Chr11:71184678 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.253G>A (p.Asp85Asn) |
single nucleotide variant |
not provided [RCV001765743] |
Chr11:71458534 [GRCh38] Chr11:71169580 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.408-18C>T |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779931]|not provided [RCV004707708] |
Chr11:71472431 [GRCh38] Chr11:71183477 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.264-26A>G |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779928]|not provided [RCV004707706] |
Chr11:71463406 [GRCh38] Chr11:71174452 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.317+22C>T |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779929]|not provided [RCV004709139] |
Chr11:71463507 [GRCh38] Chr11:71174553 [GRCh37] Chr11:11q13.4 |
benign |
NM_018161.5(NADSYN1):c.271del (p.Met91fs) |
deletion |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003759067]|not provided [RCV001756822] |
Chr11:71463438 [GRCh38] Chr11:71174484 [GRCh37] Chr11:11q13.4 |
likely pathogenic|uncertain significance |
NC_000011.9:g.(?_71146421)_(75283128_?)dup |
duplication |
3-methylglutaconic aciduria, type VIIB [RCV003122786] |
Chr11:71146421..75283128 [GRCh37] Chr11:11q13.4-13.5 |
uncertain significance |
NM_018161.5(NADSYN1):c.1765-7T>A |
single nucleotide variant |
NADSYN1-related disorder [RCV003966280]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003148538] |
Chr11:71497476 [GRCh38] Chr11:71208522 [GRCh37] Chr11:11q13.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV002273165] |
Chr11:71473342 [GRCh38] Chr11:71184388 [GRCh37] Chr11:11q13.4 |
pathogenic|likely pathogenic |
NM_018161.5(NADSYN1):c.1861G>A (p.Gly621Ser) |
single nucleotide variant |
not provided [RCV002274645] |
Chr11:71497579 [GRCh38] Chr11:71208625 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.384G>T (p.Trp128Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002684997] |
Chr11:71464119 [GRCh38] Chr11:71175165 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.508A>C (p.Ile170Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002969715] |
Chr11:71473326 [GRCh38] Chr11:71184372 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1802A>G (p.Tyr601Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002841255] |
Chr11:71497520 [GRCh38] Chr11:71208566 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1112C>G (p.Ser371Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002776952] |
Chr11:71481987 [GRCh38] Chr11:71193033 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1197C>G (p.Ser399Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002734487] |
Chr11:71482895 [GRCh38] Chr11:71193941 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.551C>T (p.Pro184Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002749385] |
Chr11:71473571 [GRCh38] Chr11:71184617 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1288C>T (p.Arg430Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002684918] |
Chr11:71482986 [GRCh38] Chr11:71194032 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.2072T>G (p.Val691Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002686713] |
Chr11:71501303 [GRCh38] Chr11:71212349 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.370C>T (p.Arg124Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002778494] |
Chr11:71464105 [GRCh38] Chr11:71175151 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.346G>T (p.Ala116Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002762389] |
Chr11:71464081 [GRCh38] Chr11:71175127 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1967C>T (p.Ala656Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002704744] |
Chr11:71498425 [GRCh38] Chr11:71209471 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.343A>G (p.Met115Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002661555] |
Chr11:71464078 [GRCh38] Chr11:71175124 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.562A>G (p.Met188Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002784279] |
Chr11:71473582 [GRCh38] Chr11:71184628 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.254A>G (p.Asp85Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002910777] |
Chr11:71458535 [GRCh38] Chr11:71169581 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1879T>C (p.Cys627Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002854593] |
Chr11:71497597 [GRCh38] Chr11:71208643 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.2116G>T (p.Asp706Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002826426] |
Chr11:71501347 [GRCh38] Chr11:71212393 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1439C>T (p.Ala480Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002853527] |
Chr11:71484431 [GRCh38] Chr11:71195477 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1822G>A (p.Ala608Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002699218] |
Chr11:71497540 [GRCh38] Chr11:71208586 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1741G>A (p.Gly581Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002891843] |
Chr11:71491880 [GRCh38] Chr11:71202926 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002960495]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003759771] |
Chr11:71464114 [GRCh38] Chr11:71175160 [GRCh37] Chr11:11q13.4 |
likely pathogenic|uncertain significance |
NM_018161.5(NADSYN1):c.1651G>A (p.Val551Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002960455] |
Chr11:71490933 [GRCh38] Chr11:71201979 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1371C>G (p.Ile457Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002920490] |
Chr11:71484363 [GRCh38] Chr11:71195409 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.629A>C (p.Asn210Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002648460] |
Chr11:71473649 [GRCh38] Chr11:71184695 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1897G>A (p.Ala633Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002724641] |
Chr11:71498355 [GRCh38] Chr11:71209401 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.799-2A>G |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 1 [RCV003152663] |
Chr11:71478393 [GRCh38] Chr11:71189439 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1796C>T (p.Ser599Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002722337] |
Chr11:71497514 [GRCh38] Chr11:71208560 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1621G>A (p.Gly541Arg) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003131679]|not provided [RCV003443171] |
Chr11:71490903 [GRCh38] Chr11:71201949 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.636G>C (p.Arg212Ser) |
single nucleotide variant |
not provided [RCV003227157] |
Chr11:71473656 [GRCh38] Chr11:71184702 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.620G>A (p.Arg207His) |
single nucleotide variant |
Inborn genetic diseases [RCV003205718] |
Chr11:71473640 [GRCh38] Chr11:71184686 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.653T>C (p.Met218Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003211248] |
Chr11:71473673 [GRCh38] Chr11:71184719 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.-690G>A |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003132823] |
Chr11:71452607 [GRCh38] Chr11:71163653 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.835C>T (p.Arg279Trp) |
single nucleotide variant |
not provided [RCV003227390] |
Chr11:71478431 [GRCh38] Chr11:71189477 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1189C>T (p.Gln397Ter) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003132822] |
Chr11:71482887 [GRCh38] Chr11:71193933 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.652A>G (p.Met218Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003302541] |
Chr11:71473672 [GRCh38] Chr11:71184718 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1132G>A (p.Glu378Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003309359] |
Chr11:71482007 [GRCh38] Chr11:71193053 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_018161.5(NADSYN1):c.1216C>G (p.Arg406Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003357415] |
Chr11:71482914 [GRCh38] Chr11:71193960 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1477G>A (p.Ala493Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003349743] |
Chr11:71485563 [GRCh38] Chr11:71196609 [GRCh37] Chr11:11q13.4 |
uncertain significance |
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 |
copy number gain |
not provided [RCV003484842] |
Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5 |
pathogenic |
NM_018161.5(NADSYN1):c.924G>A (p.Ser308=) |
single nucleotide variant |
not provided [RCV003409335] |
Chr11:71480805 [GRCh38] Chr11:71191851 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_018161.5(NADSYN1):c.2070+2T>C |
single nucleotide variant |
NADSYN1-related disorder [RCV003402310] |
Chr11:71498530 [GRCh38] Chr11:71209576 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1088C>T (p.Ala363Val) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003759816] |
Chr11:71481963 [GRCh38] Chr11:71193009 [GRCh37] Chr11:11q13.4 |
likely pathogenic |
NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003759815] |
Chr11:71491898 [GRCh38] Chr11:71202944 [GRCh37] Chr11:11q13.4 |
likely pathogenic |
NM_018161.5(NADSYN1):c.1787C>T (p.Ala596Val) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003493090] |
Chr11:71497505 [GRCh38] Chr11:71208551 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1247G>T (p.Cys416Phe) |
single nucleotide variant |
Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003993523] |
Chr11:71482945 [GRCh38] Chr11:71193991 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.2054G>A (p.Arg685Gln) |
single nucleotide variant |
NADSYN1-related disorder [RCV003956759] |
Chr11:71498512 [GRCh38] Chr11:71209558 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.393G>A (p.Pro131=) |
single nucleotide variant |
not provided [RCV003885887] |
Chr11:71464128 [GRCh38] Chr11:71175174 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_018161.5(NADSYN1):c.1360G>A (p.Val454Ile) |
single nucleotide variant |
NADSYN1-related disorder [RCV003934120] |
Chr11:71484352 [GRCh38] Chr11:71195398 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_018161.5(NADSYN1):c.669C>T (p.Asn223=) |
single nucleotide variant |
NADSYN1-related disorder [RCV003959724] |
Chr11:71474397 [GRCh38] Chr11:71185443 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_018161.5(NADSYN1):c.1695-7G>T |
single nucleotide variant |
NADSYN1-related disorder [RCV003971995] |
Chr11:71491827 [GRCh38] Chr11:71202873 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_018161.5(NADSYN1):c.1102C>T (p.Leu368Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004466127] |
Chr11:71481977 [GRCh38] Chr11:71193023 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1309C>G (p.Gln437Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004466160] |
Chr11:71483007 [GRCh38] Chr11:71194053 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1966G>A (p.Ala656Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004466203] |
Chr11:71498424 [GRCh38] Chr11:71209470 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.872C>T (p.Ala291Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004466274] |
Chr11:71478468 [GRCh38] Chr11:71189514 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1022G>C (p.Trp341Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004466121] |
Chr11:71481379 [GRCh38] Chr11:71192425 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1550A>G (p.Asn517Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004466169] |
Chr11:71485636 [GRCh38] Chr11:71196682 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.760G>A (p.Val254Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004466264] |
Chr11:71474488 [GRCh38] Chr11:71185534 [GRCh37] Chr11:11q13.4 |
likely benign |
NM_018161.5(NADSYN1):c.1012T>C (p.Cys338Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004466117] |
Chr11:71481369 [GRCh38] Chr11:71192415 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1207C>A (p.Gln403Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004466141] |
Chr11:71482905 [GRCh38] Chr11:71193951 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.197C>T (p.Ser66Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004466210] |
Chr11:71458478 [GRCh38] Chr11:71169524 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.82A>G (p.Lys28Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004466269] |
Chr11:71453378 [GRCh38] Chr11:71164424 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.796G>A (p.Val266Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004641153] |
Chr11:71474524 [GRCh38] Chr11:71185570 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1320C>A (p.Ser440Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004652250] |
Chr11:71484312 [GRCh38] Chr11:71195358 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.1087G>T (p.Ala363Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004652251] |
Chr11:71481962 [GRCh38] Chr11:71193008 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.741G>A (p.Met247Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004652252] |
Chr11:71474469 [GRCh38] Chr11:71185515 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.101A>G (p.Lys34Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004652253] |
Chr11:71455125 [GRCh38] Chr11:71166171 [GRCh37] Chr11:11q13.4 |
uncertain significance |
NM_018161.5(NADSYN1):c.470C>A (p.Pro157His) |
single nucleotide variant |
Inborn genetic diseases [RCV004652254] |
Chr11:71473288 [GRCh38] Chr11:71184334 [GRCh37] Chr11:11q13.4 |
uncertain significance |