NM_000071.3(CBS):c.1451A>T (p.Tyr484Phe) |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002232083] |
Chr21:43058161 [GRCh38] Chr21:44478271 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_000071.3(CBS):c.1341C>T (p.Pro447=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002384200]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002530066]|not provided [RCV001707734]|not specified [RCV003330783] |
Chr21:43058851 [GRCh38] Chr21:44478961 [GRCh37] Chr21:21q22.3 |
likely benign |
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro) |
single nucleotide variant |
Classic homocystinuria [RCV000555545]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350329]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003153722] |
Chr21:43059244 [GRCh38] Chr21:44479354 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) |
single nucleotide variant |
CBS-related disorder [RCV003914786]|Classic homocystinuria [RCV000173641]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313701]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000138]|Homocystinuria [RCV000366433]|Homocystinuria, pyridoxine-nonresponsive [RCV000000137]|not provided [RCV000078112] |
Chr21:43062988 [GRCh38] Chr21:44483098 [GRCh37] Chr21:21q22.3 |
pathogenic |
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) |
single nucleotide variant |
Classic homocystinuria [RCV000625555]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227955]|Homocystinuria [RCV001250193]|Homocystinuria, pyridoxine-responsive [RCV000000139] |
Chr21:43066260 [GRCh38] Chr21:44486370 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.341C>T (p.Ala114Val) |
single nucleotide variant |
CBS-related disorder [RCV003952330]|Classic homocystinuria [RCV000490533]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453244]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227956]|Homocystinuria [RCV000590659]|Homocystinuria, pyridoxine-responsive [RCV000000140]|not provided [RCV000200823] |
Chr21:43066353 [GRCh38] Chr21:44486463 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) |
single nucleotide variant |
Classic homocystinuria [RCV000173640]|Connective tissue disorder [RCV002276525]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310621]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000142]|Homocystinuria [RCV000781197]|Homocystinuria, pyridoxine-responsive [RCV000000141]|Intellectual disability [RCV001252178]|See cases [RCV003128384]|Thoracic aortic aneurysm or dissection [RCV004584135]|not provided [RCV000078111] |
Chr21:43063074 [GRCh38] Chr21:44483184 [GRCh37] Chr21:21q22.3 |
pathogenic|benign|uncertain significance |
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003764500]|Homocystinuria, pyridoxine-responsive [RCV000000143]|not specified [RCV002468954] |
Chr21:43066279 [GRCh38] Chr21:44486389 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) |
single nucleotide variant |
CBS-related disorder [RCV003415595]|Classic homocystinuria [RCV000169074]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227957]|Homocystinuria [RCV001251284]|Homocystinuria, pyridoxine-responsive [RCV000000144]|not provided [RCV000723427] |
Chr21:43066264 [GRCh38] Chr21:44486374 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000071.3(CBS):c.1150A>G (p.Lys384Glu) |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003495103]|Homocystinuria, pyridoxine-responsive [RCV000000145] |
Chr21:43059299 [GRCh38] Chr21:44479409 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) |
single nucleotide variant |
Classic homocystinuria [RCV000675072]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003597960]|Homocystinuria [RCV002468955]|Homocystinuria, pyridoxine-responsive [RCV000000146] |
Chr21:43053920 [GRCh38] Chr21:44474030 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) |
single nucleotide variant |
Classic homocystinuria [RCV000469164]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313702]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227958]|Homocystinuria [RCV001192721]|Homocystinuria, pyridoxine-responsive [RCV000000147]|not provided [RCV001546787] |
Chr21:43063931 [GRCh38] Chr21:44484041 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) |
single nucleotide variant |
CBS-related disorder [RCV004754226]|Classic homocystinuria [RCV000174656]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381232]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000149]|Homocystinuria [RCV000781196]|Homocystinuria, pyridoxine-responsive [RCV000000148]|not provided [RCV000078108] |
Chr21:43058862 [GRCh38] Chr21:44478972 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response |
NM_000071.3(CBS):c.502G>A (p.Val168Met) |
single nucleotide variant |
Classic homocystinuria [RCV000458159]|Familial hypercholesterolemia [RCV004540986]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310622]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227959]|Homocystinuria [RCV002265542]|Homocystinuria, pyridoxine-responsive [RCV000000150]|not provided [RCV000179250] |
Chr21:43065645 [GRCh38] Chr21:44485755 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.1224-2A>C |
single nucleotide variant |
CBS-related disorder [RCV003944786]|Classic homocystinuria [RCV000174658]|Familial thoracic aortic aneurysm and aortic dissection [RCV002354142]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227960]|Homocystinuria [RCV000590542]|Homocystinuria, pyridoxine-responsive [RCV000000151]|not provided [RCV000198380] |
Chr21:43058970 [GRCh38] Chr21:44479080 [GRCh37] Chr21:21q22.3 |
pathogenic |
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) |
single nucleotide variant |
Classic homocystinuria [RCV000675050]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444412]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000152]|not provided [RCV000522394] |
Chr21:43058927 [GRCh38] Chr21:44479037 [GRCh37] Chr21:21q22.3 |
pathogenic|uncertain significance |
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) |
single nucleotide variant |
Classic homocystinuria [RCV000675119]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390082]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000153]|not specified [RCV003226154] |
Chr21:43058215 [GRCh38] Chr21:44478325 [GRCh37] Chr21:21q22.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) |
single nucleotide variant |
Classic homocystinuria [RCV000169466]|Familial thoracic aortic aneurysm and aortic dissection [RCV004018522]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227961]|Homocystinuria [RCV002271361]|Homocystinuria, pyridoxine-nonresponsive [RCV000000154]|not provided [RCV000078106] |
Chr21:43060528 [GRCh38] Chr21:44480638 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000071.3(CBS):c.572C>T (p.Thr191Met) |
single nucleotide variant |
CBS-related disorder [RCV003914787]|Classic homocystinuria [RCV000576767]|Familial thoracic aortic aneurysm and aortic dissection [RCV004018523]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227962]|Homocystinuria [RCV000589097]|Homocystinuria, pyridoxine-nonresponsive [RCV000000155]|not provided [RCV000195441] |
Chr21:43065481 [GRCh38] Chr21:44485591 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
CBS, 68-BP INS |
insertion |
CYSTATHIONINE BETA-SYNTHETASE POLYMORPHISM [RCV000000156] |
Chr21:21q22.3 |
benign |
NM_000071.3(CBS):c.737-1G>C |
single nucleotide variant |
Classic homocystinuria [RCV000544919]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002232086]|Homocystinuria [RCV001260387]|not provided [RCV003128628] |
Chr21:43063992 [GRCh38] Chr21:44484102 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.887C>T (p.Thr296Met) |
single nucleotide variant |
Classic homocystinuria [RCV000558244]|Familial thoracic aortic aneurysm and aortic dissection [RCV002377130]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002530068] |
Chr21:43063020 [GRCh38] Chr21:44483130 [GRCh37] Chr21:21q22.3 |
likely benign|uncertain significance |
NM_000071.3(CBS):c.369C>A (p.Ser123Arg) |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003597981] |
Chr21:43066325 [GRCh38] Chr21:44486435 [GRCh37] Chr21:21q22.3 |
likely pathogenic|uncertain significance |
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 |
copy number loss |
See cases [RCV000050746] |
Chr21:42232926..46670405 [GRCh38] Chr21:43653036..48090317 [GRCh37] Chr21:42526105..46914745 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000050445] |
Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 |
copy number loss |
See cases [RCV000051022] |
Chr21:41285201..46670405 [GRCh38] Chr21:42657128..48090317 [GRCh37] Chr21:41578998..46914745 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] |
Chr21:35027972..46670405 [GRCh38] Chr21:36400269..48090317 [GRCh37] Chr21:35322139..46914745 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] |
Chr21:38273492..46670405 [GRCh38] Chr21:39645414..48090317 [GRCh37] Chr21:38567284..46914745 [NCBI36] Chr21:21q22.13-22.3 |
pathogenic |
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 |
copy number loss |
See cases [RCV000052839] |
Chr21:40127825..46670546 [GRCh38] Chr21:41499752..48090458 [GRCh37] Chr21:40421622..46914886 [NCBI36] Chr21:21q22.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
See cases [RCV000053042] |
Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
See cases [RCV000053043] |
Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 |
copy number gain |
See cases [RCV000053045] |
Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 |
copy number gain |
See cases [RCV000053065] |
Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 |
copy number gain |
See cases [RCV000053067] |
Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000053068] |
Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000053069] |
Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
See cases [RCV000053039] |
Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 |
copy number gain |
See cases [RCV000053040] |
Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
NM_000071.2(CBS):c.1141T>A (p.Tyr381Asn) |
single nucleotide variant |
Malignant melanoma [RCV000072856] |
Chr21:43060445 [GRCh38] Chr21:44480555 [GRCh37] Chr21:43353624 [NCBI36] Chr21:21q22.3 |
not provided |
NM_000071.2(CBS):c.1060G>A (p.Val354Met) |
single nucleotide variant |
Malignant melanoma [RCV000072857] |
Chr21:43060526 [GRCh38] Chr21:44480636 [GRCh37] Chr21:43353705 [NCBI36] Chr21:21q22.3 |
not provided |
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) |
single nucleotide variant |
CBS-related disorder [RCV003905038]|Classic homocystinuria [RCV000169310]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228199]|Homocystinuria [RCV001280568]|not provided [RCV000078105] |
Chr21:43062344 [GRCh38] Chr21:44482454 [GRCh37] Chr21:21q22.3 |
pathogenic |
NM_000071.3(CBS):c.1080C>T (p.Ala360=) |
single nucleotide variant |
Classic homocystinuria [RCV000611179]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310651]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228200]|not provided [RCV001356690]|not specified [RCV000078107] |
Chr21:43060506 [GRCh38] Chr21:44480616 [GRCh37] Chr21:21q22.3 |
benign|uncertain significance |
NM_000071.3(CBS):c.435G>A (p.Pro145=) |
single nucleotide variant |
Classic homocystinuria [RCV001088690]|Familial thoracic aortic aneurysm and aortic dissection [RCV003343633]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228201]|not provided [RCV000078109]|not specified [RCV004700387] |
Chr21:43066259 [GRCh38] Chr21:44486369 [GRCh37] Chr21:21q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.699C>T (p.Tyr233=) |
single nucleotide variant |
Classic homocystinuria [RCV000600783]|Connective tissue disorder [RCV002277141]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310652]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228202]|not provided [RCV001811356]|not specified [RCV000078110] |
Chr21:43065240 [GRCh38] Chr21:44485350 [GRCh37] Chr21:21q22.3 |
benign |
NM_000071.3(CBS):c.531+11G>A |
single nucleotide variant |
Classic homocystinuria [RCV000625490]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345430]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228266]|not provided [RCV001795224]|not specified [RCV000124146] |
Chr21:43065605 [GRCh38] Chr21:44485715 [GRCh37] Chr21:21q22.3 |
benign|likely benign|uncertain significance |
NM_000071.3(CBS):c.573G>A (p.Thr191=) |
single nucleotide variant |
Classic homocystinuria [RCV000755228]|Connective tissue disorder [RCV002277186]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310681]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228267]|not provided [RCV001795225]|not specified [RCV000179709] |
Chr21:43065480 [GRCh38] Chr21:44485590 [GRCh37] Chr21:21q22.3 |
benign|likely benign |
NM_000071.3(CBS):c.636C>T (p.Asn212=) |
single nucleotide variant |
CBS-related disorder [RCV003952644]|Classic homocystinuria [RCV000540728]|Connective tissue disorder [RCV002277187]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311008]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002512522]|not provided [RCV003736583]|not specified [RCV000124148] |
Chr21:43065417 [GRCh38] Chr21:43065417..43065418 [GRCh38] Chr21:44485527 [GRCh37] Chr21:44485527..44485528 [GRCh37] Chr21:21q22.3 |
benign|uncertain significance |
NM_000071.3(CBS):c.829-14C>T |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002055449]|not provided [RCV003736584]|not specified [RCV000124150] |
Chr21:43063092 [GRCh38] Chr21:44483202 [GRCh37] Chr21:21q22.3 |
benign|likely benign |
NM_000071.3(CBS):c.829-13G>A |
single nucleotide variant |
CBS-related disorder [RCV003915241]|Classic homocystinuria [RCV000287047]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228268]|not provided [RCV002227066]|not specified [RCV000124151] |
Chr21:43063091 [GRCh38] Chr21:44483201 [GRCh37] Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.829-12C>T |
single nucleotide variant |
Classic homocystinuria [RCV000326905]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228269]|not provided [RCV001812000]|not specified [RCV000124152] |
Chr21:43063090 [GRCh38] Chr21:44483200 [GRCh37] Chr21:21q22.3 |
benign|uncertain significance |
NM_000071.3(CBS):c.954+8G>A |
single nucleotide variant |
Classic homocystinuria [RCV000536701]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228270]|not specified [RCV000173642] |
Chr21:43062945 [GRCh38] Chr21:44483055 [GRCh37] Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.1039+19C>T |
single nucleotide variant |
Classic homocystinuria [RCV002477328]|Familial thoracic aortic aneurysm and aortic dissection [RCV004017411]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228271]|not provided [RCV003736585]|not specified [RCV000124154] |
Chr21:43062292 [GRCh38] Chr21:44482402 [GRCh37] Chr21:21q22.3 |
benign|likely benign |
NM_000071.3(CBS):c.1145+7C>T |
single nucleotide variant |
Classic homocystinuria [RCV000206277]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228272]|not provided [RCV001573779]|not specified [RCV000174216] |
Chr21:43060434 [GRCh38] Chr21:44480544 [GRCh37] Chr21:21q22.3 |
benign|likely benign |
NM_000071.2:c.+10C>A |
single nucleotide variant |
not provided [RCV000124157] |
Chr21:21q22.3 |
benign |
NM_000071.3(CBS):c.*18G>A |
single nucleotide variant |
Classic homocystinuria [RCV001142671]|not provided [RCV001698966]|not specified [RCV000124158] |
Chr21:43053862 [GRCh38] Chr21:44473972 [GRCh37] Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) |
single nucleotide variant |
Classic homocystinuria [RCV000233317]|Connective tissue disorder [RCV002277188]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312820]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228454]|not provided [RCV000224394]|not specified [RCV000178036] |
Chr21:43068521 [GRCh38] Chr21:44488631 [GRCh37] Chr21:21q22.3 |
benign|likely benign |
NM_000071.3(CBS):c.1218del (p.Lys406fs) |
deletion |
Classic homocystinuria [RCV000174443]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001852126]|not provided [RCV000724407] |
Chr21:43059231 [GRCh38] Chr21:44479341 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.1257G>A (p.Leu419=) |
single nucleotide variant |
Connective tissue disorder [RCV002277343]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415744]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228618]|not provided [RCV001812151]|not specified [RCV000174657] |
Chr21:43058935 [GRCh38] Chr21:44479045 [GRCh37] Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.2(CBS):c.1224-2A>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000174658] |
Chr21:43058970 [GRCh38] Chr21:44479080 [GRCh37] |
pathogenic |
NM_000071.2:c.832_833insCTGGGGTGGATCA |
insertion |
Classic homocystinuria [RCV001332164] |
Chr21:43063074..43063075 [GRCh38] Chr21:44483184..44483185 [GRCh37] Chr21:21q22.3 |
pathogenic |
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) |
single nucleotide variant |
Classic homocystinuria [RCV000178709]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228790]|Homocystinuria [RCV001804908]|not provided [RCV000723426] |
Chr21:43066320 [GRCh38] Chr21:44486430 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.785C>T (p.Thr262Met) |
single nucleotide variant |
Classic homocystinuria [RCV000180461]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228800]|Homocystinuria [RCV001251422]|not provided [RCV000200469] |
Chr21:43063943 [GRCh38] Chr21:44484053 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000071.3(CBS):c.992C>T (p.Ala331Val) |
single nucleotide variant |
Classic homocystinuria [RCV003462276]|Familial thoracic aortic aneurysm and aortic dissection [RCV004601121]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002516607]|Intellectual disability [RCV001252181]|not provided [RCV000173977] |
Chr21:43062358 [GRCh38] Chr21:44482468 [GRCh37] Chr21:21q22.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_000071.3(CBS):c.1005C>T (p.Ala335=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002408755]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002516608]|not provided [RCV000173978] |
Chr21:43062345 [GRCh38] Chr21:44482455 [GRCh37] Chr21:21q22.3 |
likely benign|uncertain significance |
NM_000071.3(CBS):c.1072G>A (p.Val358Met) |
single nucleotide variant |
Classic homocystinuria [RCV000474043]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415740]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002517673]|not provided [RCV000420634] |
Chr21:43060514 [GRCh38] Chr21:44480624 [GRCh37] Chr21:21q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Pro282_Glu283insLysGlyProSerSerGlnSerArgArgSerTer) |
insertion |
not specified [RCV000152935] |
Chr21:43063061..43063062 [GRCh38] Chr21:44483171..44483172 [GRCh37] Chr21:21q22.3 |
benign |
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 |
copy number loss |
See cases [RCV000133675] |
Chr21:43071168..46670405 [GRCh38] Chr21:44491278..48090317 [GRCh37] Chr21:43364347..46914745 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 |
copy number gain |
See cases [RCV000134727] |
Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 |
copy number gain |
See cases [RCV000134509] |
Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 |
copy number gain |
See cases [RCV000134119] |
Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 |
copy number gain |
See cases [RCV000135310] |
Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 |
copy number gain |
See cases [RCV000134972] |
Chr21:36206067..46670405 [GRCh38] Chr21:37578365..48090317 [GRCh37] Chr21:36500235..46914745 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
NM_000071.3(CBS):c.1526C>T (p.Ala509Val) |
single nucleotide variant |
not provided [RCV000174986] |
Chr21:43056829 [GRCh38] Chr21:44476939 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_000071.3(CBS):c.1527C>T (p.Ala509=) |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002516656]|not provided [RCV000174987] |
Chr21:43056828 [GRCh38] Chr21:44476938 [GRCh37] Chr21:21q22.3 |
likely benign|uncertain significance |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 |
copy number gain |
See cases [RCV000134836] |
Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 |
copy number gain |
See cases [RCV000134842] |
Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 |
copy number gain |
See cases [RCV000135448] |
Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
NM_000071.3(CBS):c.*10C>A |
single nucleotide variant |
Classic homocystinuria [RCV000343292]|not provided [RCV004717075]|not specified [RCV000175120] |
Chr21:43053870 [GRCh38] Chr21:44473980 [GRCh37] Chr21:21q22.3 |
benign |
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 |
copy number gain |
See cases [RCV000136142] |
Chr21:36519173..46670405 [GRCh38] Chr21:37891471..48090317 [GRCh37] Chr21:36813341..46914745 [NCBI36] Chr21:21q22.13-22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 |
copy number loss |
See cases [RCV000136828] |
Chr21:34789953..46636538 [GRCh38] Chr21:36162250..48056450 [GRCh37] Chr21:35084120..46880878 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000137255] |
Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000137337] |
Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 |
copy number loss |
See cases [RCV000137341] |
Chr21:41733640..46671060 [GRCh38] Chr21:43153800..48090972 [GRCh37] Chr21:42026869..46915400 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000138216] |
Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 |
copy number loss |
See cases [RCV000138096] |
Chr21:37669628..46671060 [GRCh38] Chr21:39041930..48090972 [GRCh37] Chr21:37963800..46915400 [NCBI36] Chr21:21q22.13-22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 |
copy number gain |
See cases [RCV000138164] |
Chr21:36066991..46671060 [GRCh38] Chr21:37439289..48090972 [GRCh37] Chr21:36361159..46915400 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000138436] |
Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 |
copy number loss |
See cases [RCV000139158] |
Chr21:40296025..46670440 [GRCh38] Chr21:41667952..48090352 [GRCh37] Chr21:40589822..46914780 [NCBI36] Chr21:21q22.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 |
copy number gain |
See cases [RCV000140103] |
Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 |
copy number gain |
See cases [RCV000141346] |
Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000141827] |
Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3 |
uncertain significance |
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 |
copy number loss |
See cases [RCV000142311] |
Chr21:38816399..46677460 [GRCh38] Chr21:40188323..48097372 [GRCh37] Chr21:39110193..46921800 [NCBI36] Chr21:21q22.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 |
copy number loss |
See cases [RCV000142427] |
Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000143120] |
Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 |
copy number loss |
See cases [RCV000142650] |
Chr21:39375937..44246148 [GRCh38] Chr21:40747863..45666031 [GRCh37] Chr21:39669733..44490459 [NCBI36] Chr21:21q22.2-22.3 |
pathogenic |
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 |
copy number loss |
See cases [RCV000142600] |
Chr21:42913213..46670405 [GRCh38] Chr21:44333323..48090317 [GRCh37] Chr21:43206392..46914745 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000143376] |
Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) |
copy number gain |
See cases [RCV000143160] |
Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 |
copy number loss |
See cases [RCV000143335] |
Chr21:42129699..46671060 [GRCh38] Chr21:43549809..48090972 [GRCh37] Chr21:42422878..46915400 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000148131] |
Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
NM_000071.3(CBS):c.1566del (p.Lys523fs) |
deletion |
Classic homocystinuria [RCV000169113]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228605]|Homocystinuria [RCV001175467] |
Chr21:43053970 [GRCh38] Chr21:44474080 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.346G>A (p.Gly116Arg) |
single nucleotide variant |
Classic homocystinuria [RCV000169116]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228606]|Homocystinuria [RCV001844063] |
Chr21:43066348 [GRCh38] Chr21:44486458 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) |
single nucleotide variant |
Classic homocystinuria [RCV000169132]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390401]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228607]|Homocystinuria [RCV000780082]|not provided [RCV000197584] |
Chr21:43062311 [GRCh38] Chr21:44482421 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln) |
single nucleotide variant |
Classic homocystinuria [RCV000169171]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002517626]|Homocystinuria [RCV004689648]|not provided [RCV000480748] |
Chr21:43060450 [GRCh38] Chr21:44480560 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.689del (p.Leu230fs) |
deletion |
Classic homocystinuria [RCV000169175]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228608]|Homocystinuria [RCV003226231]|not provided [RCV000198642] |
Chr21:43065250 [GRCh38] Chr21:44485360 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.667-14_667-7del |
deletion |
Classic homocystinuria [RCV000169271]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228777]|Homocystinuria [RCV000780083]|not provided [RCV000274429] |
Chr21:43065279..43065286 [GRCh38] Chr21:44485389..44485396 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000071.3(CBS):c.770C>T (p.Thr257Met) |
single nucleotide variant |
Classic homocystinuria [RCV000169294]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228778]|Homocystinuria [RCV000780084]|Hyperhomocysteinemia [RCV000790997]|See cases [RCV003128393]|not provided [RCV000197988] |
Chr21:43063958 [GRCh38] Chr21:44484068 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.362G>A (p.Arg121His) |
single nucleotide variant |
Classic homocystinuria [RCV000169322]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453568]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228611]|Homocystinuria [RCV001192720] |
Chr21:43066332 [GRCh38] Chr21:44486442 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) |
single nucleotide variant |
Classic homocystinuria [RCV000169367]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444679]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002515196]|not specified [RCV003226232] |
Chr21:43068592 [GRCh38] Chr21:44488702 [GRCh37] Chr21:21q22.3 |
likely pathogenic|likely benign|uncertain significance |
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) |
single nucleotide variant |
Classic homocystinuria [RCV000169368]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444680]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002515197]|not specified [RCV003226233] |
Chr21:43068519 [GRCh38] Chr21:44488629 [GRCh37] Chr21:21q22.3 |
likely pathogenic|uncertain significance |
NM_000071.3(CBS):c.1358+1G>A |
single nucleotide variant |
Classic homocystinuria [RCV000169487]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228614] |
Chr21:43058833 [GRCh38] Chr21:44478943 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) |
single nucleotide variant |
Classic homocystinuria [RCV000169494]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298197]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003153461]|not provided [RCV000587586]|not specified [RCV003155100] |
Chr21:43058876 [GRCh38] Chr21:44478986 [GRCh37] Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.302T>C (p.Leu101Pro) |
single nucleotide variant |
CBS-related disorder [RCV004754328]|Classic homocystinuria [RCV000169617]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228615]|Homocystinuria [RCV001251397] |
Chr21:43068523 [GRCh38] Chr21:44488633 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) |
deletion |
Classic homocystinuria [RCV000675172]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020154]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228797]|not provided [RCV000413538] |
Chr21:43065500..43065517 [GRCh38] Chr21:44485610..44485627 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.2T>C (p.Met1Thr) |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003597965]|not provided [RCV000176975] |
Chr21:43072192 [GRCh38] Chr21:44492302 [GRCh37] Chr21:21q22.3 |
pathogenic|uncertain significance |
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) |
single nucleotide variant |
Classic homocystinuria [RCV000190373]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001857669] |
Chr21:43066332 [GRCh38] Chr21:44486442 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|not provided |
NM_000071.3(CBS):c.1632C>T (p.Ala544=) |
single nucleotide variant |
Classic homocystinuria [RCV002478679]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315522]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002229024]|not provided [RCV004703465]|not specified [RCV000200199] |
Chr21:43053904 [GRCh38] Chr21:44474014 [GRCh37] Chr21:21q22.3 |
benign|likely benign |
NM_000071.3(CBS):c.5C>T (p.Pro2Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002354543]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002517994]|not provided [RCV002291590] |
Chr21:43072189 [GRCh38] Chr21:44492299 [GRCh37] Chr21:21q22.3 |
likely benign|uncertain significance |
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) |
single nucleotide variant |
Classic homocystinuria [RCV000764258]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002229031]|not provided [RCV000200328]|not specified [RCV003987441] |
Chr21:43058201 [GRCh38] Chr21:44478311 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) |
single nucleotide variant |
CBS-related disorder [RCV003955179]|Classic homocystinuria [RCV000227198]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310760]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002229440]|not provided [RCV001312008]|not specified [RCV003987439] |
Chr21:43053893 [GRCh38] Chr21:44474003 [GRCh37] Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.1479G>A (p.Thr493=) |
single nucleotide variant |
Classic homocystinuria [RCV000471233]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310757]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002229438]|not provided [RCV001726039]|not specified [RCV000196475] |
Chr21:43056876 [GRCh38] Chr21:44476986 [GRCh37] Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000071.3(CBS):c.400G>A (p.Gly134Arg) |
single nucleotide variant |
Classic homocystinuria [RCV000469139]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002517171]|not provided [RCV000196511] |
Chr21:43066294 [GRCh38] Chr21:44486404 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000071.3(CBS):c.*27C>T |
single nucleotide variant |
not specified [RCV000196581] |
Chr21:43053853 [GRCh38] Chr21:44473963 [GRCh37] Chr21:21q22.3 |
benign |
NM_000071.2(CBS):c.1359-30C>T |
single nucleotide variant |
not specified [RCV000196643] |
Chr21:43058283 [GRCh38] Chr21:43058283..43058284 [GRCh38] Chr21:44478393 [GRCh37] Chr21:44478393..44478394 [GRCh37] Chr21:21q22.3 |
benign |
NM_000071.3(CBS):c.736+2T>G |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002517165]|not provided [RCV000196686] |