Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	SNV Germline	Chr21:43062988	Pathogenic	Homocystinuria, pyridoxine-nonresponsive HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Classic homocystinuria Homocystinuria CBS-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113874	rs_121964962	17 SubmittersRCV000000137 RCV000000138 RCV000078112 RCV000173641 RCV000366433 RCV003914786 RCV002313701
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	SNV Germline	Chr21:43066260	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-responsive Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA113876	rs_121964963	6 SubmittersRCV000000139 RCV000625555 RCV001250193 RCV002227955
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	SNV Germline	Chr21:43066353	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-responsive Condition: not provided Homocystinuria Classic homocystinuria CBS-related disorder HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113878	rs_121964964	18 SubmittersRCV000000140 RCV000200823 RCV000590659 RCV000490533 RCV003952330 RCV002227956 RCV002453244
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	SNV Germline	Chr21:43063074	Pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria, pyridoxine-responsive Condition: not provided Classic homocystinuria Homocystinuria Intellectual disability Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder Thoracic aortic aneurysm or dissection See cases	Criteria Provided Multiple Submitters No Conflicts	CA113880	rs_5742905	35 SubmittersRCV000000142 RCV000000141 RCV000078111 RCV000173640 RCV000781197 RCV001252178 RCV002310621 RCV002276525 RCV004584135 RCV003128384
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	SNV Germline	Chr21:43066264	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-responsive Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA113885	rs_121964966	12 SubmittersRCV000000144 RCV000169074 RCV000723427 RCV001251284 RCV002227957 RCV003415595
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)	SNV Germline	Chr21:43053920	Conflicting classifications of pathogenicity	Homocystinuria, pyridoxine-responsive Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA113889	rs_121964968	4 SubmittersRCV000000146 RCV000675072 RCV002468955 RCV003597960
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	SNV Germline	Chr21:43063931	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-responsive Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113891	rs_121964969	7 SubmittersRCV000000147 RCV000469164 RCV001192721 RCV002227958 RCV001546787 RCV002313702
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	SNV Germline	Chr21:43058862	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria, pyridoxine-responsive Condition: not provided Classic homocystinuria Homocystinuria Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113893	rs_28934891	12 SubmittersRCV000000149 RCV000000148 RCV000078108 RCV000174656 RCV000781196 RCV002381232
NM_000071.3(CBS):c.502G>A (p.Val168Met)	SNV Germline	Chr21:43065645	Conflicting classifications of pathogenicity	Homocystinuria, pyridoxine-responsive Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Homocystinuria Familial hypercholesterolemia	Criteria Provided Conflicting Classifications	CA113895	rs_121964970	10 SubmittersRCV000000150 RCV000179250 RCV000458159 RCV002227959 RCV002310622 RCV002265542 RCV004540986
NM_000071.3(CBS):c.1224-2A>C	SNV Germline	Chr21:43058970	Pathogenic	Homocystinuria, pyridoxine-responsive Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113897	rs_375846341	17 SubmittersRCV000000151 RCV000174658 RCV000198380 RCV000590542 RCV002227960 RCV003944786 RCV002354142
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	SNV Germline	Chr21:43058215	Conflicting classifications of pathogenicity	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA113900	rs_121964971	7 SubmittersRCV000000153 RCV000675119 RCV002390082 RCV003226154
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	SNV Germline	Chr21:43060528	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-nonresponsive Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA113902	rs_121964972	11 SubmittersRCV000000154 RCV000078106 RCV000169466 RCV002227961 RCV004018522 RCV002271361
NM_000071.3(CBS):c.572C>T (p.Thr191Met)	SNV Germline	Chr21:43065481	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-nonresponsive Condition: not provided Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113904	rs_121964973	13 SubmittersRCV000000155 RCV000195441 RCV000576767 RCV000589097 RCV002227962 RCV003914787 RCV004018523
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	SNV Germline	Chr21:43062344	Pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274154	rs_398123151	14 SubmittersRCV000078105 RCV000169310 RCV002228199 RCV001280568 RCV003905038
NM_000071.3(CBS):c.435G>A (p.Pro145=)	SNV Germline	Chr21:43066259	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA220355	rs_148782895	4 SubmittersRCV000078109 RCV001088690 RCV002228201 RCV003343633
NM_000071.3(CBS):c.829-13G>A	SNV Germline	Chr21:43063091	Conflicting classifications of pathogenicity	not specified Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Conflicting Classifications	CA289976	rs_201106576	6 SubmittersRCV000124151 RCV000287047 RCV002227066 RCV002228268 RCV003915241
NM_000071.3(CBS):c.954+8G>A	SNV Germline	Chr21:43062945	Conflicting classifications of pathogenicity	not specified Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA302711	rs_76292057	7 SubmittersRCV000173642 RCV000536701 RCV002228270
NM_000071.3(CBS):c.*18G>A	SNV Germline	Chr21:43053862	Conflicting classifications of pathogenicity	not specified Classic homocystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA289979	rs_200259659	5 SubmittersRCV000124158 RCV001142671 RCV001698966
NM_000071.3(CBS):c.1358+1G>A	SNV Germline	Chr21:43058833	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA274355	rs_786204679	3 SubmittersRCV000169487 RCV002228614
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)	SNV Germline	Chr21:43058876	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA274364	rs_756467921	8 SubmittersRCV000169494 RCV000587586 RCV003153461 RCV003155100 RCV003298197
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	SNV Germline	Chr21:43060450	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA274005	rs_763036586	4 SubmittersRCV000169171 RCV000480748 RCV002517626
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	SNV Germline	Chr21:43062311	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA273978	rs_771298943	11 SubmittersRCV000169132 RCV000197584 RCV000780082 RCV002228607 RCV002390401
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	SNV Germline	Chr21:43063958	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided Hyperhomocysteinemia Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED See cases	Criteria Provided Multiple Submitters No Conflicts	CA274140	rs_758236584	9 SubmittersRCV000169294 RCV000197988 RCV000790997 RCV000780084 RCV002228778 RCV003128393
NM_000071.3(CBS):c.362G>A (p.Arg121His)	SNV Germline	Chr21:43066332	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA274172	rs_770095972	6 SubmittersRCV000169322 RCV002228611 RCV001192720 RCV002453568
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	SNV Germline	Chr21:43066348	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA273957	rs_760214620	5 SubmittersRCV000169116 RCV002228606 RCV001844063
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)	SNV Germline	Chr21:43068519	Conflicting classifications of pathogenicity	Classic homocystinuria not specified Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA274220	rs_786204609	4 SubmittersRCV000169368 RCV003226233 RCV002444680 RCV002515197
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)	SNV Germline	Chr21:43068523	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA274473	rs_786204757	4 SubmittersRCV000169617 RCV001251397 RCV002228615
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)	SNV Germline	Chr21:43068592	Conflicting classifications of pathogenicity	Classic homocystinuria not specified Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA274218	rs_786204608	4 SubmittersRCV000169367 RCV003226232 RCV002444679 RCV002515196
NM_000071.3(CBS):c.992C>T (p.Ala331Val)	SNV Germline	Chr21:43062358	Likely pathogenic	Condition: not provided Intellectual disability HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA239449	rs_777919630	4 SubmittersRCV000173977 RCV001252181 RCV002516607 RCV003462276
NM_000071.3(CBS):c.1072G>A (p.Val358Met)	SNV Germline	Chr21:43060514	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA239721	rs_148589243	8 SubmittersRCV000474043 RCV000420634 RCV002415740 RCV002517673
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	SNV Germline	Chr21:43066320	Pathogenic	Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA275291	rs_781444670	10 SubmittersRCV000178709 RCV000723426 RCV001804908 RCV002228790
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	SNV Germline	Chr21:43063943	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA275440	rs_149119723	9 SubmittersRCV000180461 RCV000200469 RCV001251422 RCV002228800
NM_000071.3(CBS):c.362G>T (p.Arg121Leu)	SNV Germline	Chr21:43066332	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA275933	rs_770095972	3 SubmittersRCV000190373 RCV001857669
NM_000071.3(CBS):c.1479G>A (p.Thr493=)	SNV Germline	Chr21:43056876	Conflicting classifications of pathogenicity	not specified Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320891	rs_143225442	8 SubmittersRCV000196475 RCV000471233 RCV001726039 RCV002229438 RCV002310757
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)	SNV Germline	Chr21:43058912	Conflicting classifications of pathogenicity	Condition: not provided not specified Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA321746	rs_863223434	5 SubmittersRCV000197292 RCV000584030 RCV003462306 RCV002517170
NM_000071.3(CBS):c.1273G>A (p.Val425Met)	SNV Germline	Chr21:43058919	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA325175	rs_138211175	5 SubmittersRCV000592999 RCV000554628 RCV002315524 RCV002517169
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)	SNV Germline	Chr21:43059226	Likely pathogenic	Condition: not provided Classic homocystinuria	Criteria Provided Single Submitter	CA320559	rs_863223433	2 SubmittersRCV000196138 RCV001275690
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	SNV Germline	Chr21:43060451	Pathogenic/Likely pathogenic	Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA320740	rs_769080151	7 SubmittersRCV000196320 RCV001853130 RCV000763061 RCV003987440
NM_000071.3(CBS):c.1111G>A (p.Val371Met)	SNV Germline	Chr21:43060475	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Homocystinuria CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA320805	rs_372010465	9 SubmittersRCV000196393 RCV000410135 RCV002229026 RCV002433873 RCV003401061 RCV003895256
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	SNV Germline	Chr21:43060481	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided not specified Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection CBS-related disorder HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA324371	rs_117687681	19 SubmittersRCV000231839 RCV000514877 RCV001526851 RCV002277461 RCV002310759 RCV003401060 RCV002517167
NM_000071.3(CBS):c.1059G>A (p.Thr353=)	SNV Germline	Chr21:43060527	Conflicting classifications of pathogenicity	not specified Classic homocystinuria Condition: not provided Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA322372	rs_61735859	8 SubmittersRCV000197907 RCV000230184 RCV001812186 RCV002277458 RCV002310756 RCV002517160
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	SNV Germline	Chr21:43062358	Pathogenic/Likely pathogenic	Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA323703	rs_777919630	4 SubmittersRCV000199169 RCV001778782 RCV002228833 RCV003462305
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	SNV Germline	Chr21:43062381	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA321445	rs_863223432	9 SubmittersRCV000197013 RCV000363392 RCV003495115
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)	SNV Germline	Chr21:43065239	Pathogenic	Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA324489	rs_773734233	4 SubmittersRCV000199941 RCV000586183 RCV002228832 RCV003462304
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	SNV Germline	Chr21:43065690	Conflicting classifications of pathogenicity	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided	Criteria Provided Conflicting Classifications		rs_745704046	7 SubmittersRCV000689266 RCV000781198 RCV002228831 RCV003221852
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)	SNV Germline	Chr21:43066300	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Intellectual disability Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED not specified	Criteria Provided Conflicting Classifications	CA320193	rs_140002610	14 SubmittersRCV000460928 RCV000726351 RCV001252179 RCV002315523 RCV002517995 RCV003993881
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	SNV Germline	Chr21:43066333	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA321269	rs_775992753	5 SubmittersRCV000196859 RCV000475484 RCV001192722 RCV002229025
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	SNV Germline	Chr21:43066369	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA324303	rs_778220779	9 SubmittersRCV000199752 RCV000248928 RCV000535881 RCV000588375 RCV002229441
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)	SNV Germline	Chr21:43068572	Pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA319849	rs_863223435	6 SubmittersRCV000195506 RCV001063052 RCV002228834
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)	SNV Germline	Chr21:43068610	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection not specified CBS-related disorder	Criteria Provided Conflicting Classifications	CA320825	rs_192232907	9 SubmittersRCV000196407 RCV001086812 RCV002229442 RCV002277462 RCV002315525 RCV003330559 RCV003907714
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)	SNV Germline	Chr21:43072032	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA321707	rs_199948079	4 SubmittersRCV000409663 RCV002229029 RCV002282028
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	SNV Germline	Chr21:43072048	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA325105	rs_148865119	12 SubmittersRCV000200523 RCV000410155 RCV002229028 RCV002310761
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)	SNV Germline	Chr21:43072061	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA323483	rs_201372812	5 SubmittersRCV000198945 RCV001081627 RCV002381662 RCV002229027
NM_000071.3(CBS):c.*540G>A	SNV Germline	Chr21:43053340	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria not specified HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10581423	rs_111386779	5 SubmittersRCV000224812 RCV000226284 RCV000454427 RCV002055001
NM_000071.3(CBS):c.894G>A (p.Gln298=)	SNV Germline	Chr21:43063013	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10583888	rs_370514077	6 SubmittersRCV000328152 RCV001552886 RCV002229640 RCV002315676
NM_000071.3(CBS):c.1472G>A (p.Arg491His)	SNV Germline	Chr21:43056883	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10587936	rs_747419767	5 SubmittersRCV000483442 RCV001299974 RCV003153545 RCV004021015
NM_000071.3(CBS):c.1161C>T (p.Ser387=)	SNV Germline	Chr21:43059288	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10587939	rs_149280976	6 SubmittersRCV000540125 RCV001722373 RCV002229818 RCV002310893
NM_000071.3(CBS):c.786G>A (p.Thr262=)	SNV Germline	Chr21:43063942	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10587943	rs_551782391	5 SubmittersRCV000320891 RCV001610766 RCV003153547 RCV002311198
NM_000071.3(CBS):c.469G>A (p.Ala157Thr)	SNV Germline	Chr21:43065678	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10587952	rs_199817801	4 SubmittersRCV000527354 RCV001589301 RCV002310909 RCV002518703
NM_000071.3(CBS):c.612G>T (p.Val204=)	SNV Germline	Chr21:43065441	Conflicting classifications of pathogenicity	not specified Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10644735	rs_539670390	6 SubmittersRCV000430115 RCV000867368 RCV002230705 RCV003912431 RCV004021848
NM_000071.3(CBS):c.600G>A (p.Pro200=)	SNV Germline	Chr21:43065453	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection CBS-related disorder	Criteria Provided Conflicting Classifications	CA10644740	rs_181472622	4 SubmittersRCV000648125 RCV002231053 RCV002356473 RCV003910326
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	SNV Germline	Chr21:43066321	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10644742	rs_886057100	7 SubmittersRCV000667483 RCV001175468 RCV002231054 RCV003736733
NM_000071.3(CBS):c.1146-12C>T	SNV Germline	Chr21:43059315	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10650555	rs_199550738	2 SubmittersRCV000352918 RCV003597973
NM_000071.3(CBS):c.888G>A (p.Thr296=)	SNV Germline	Chr21:43063019	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10650556	rs_769593715	2 SubmittersRCV000269470 RCV002057759
NM_000071.3(CBS):c.-85+10G>C	SNV Germline	Chr21:43075760	Conflicting classifications of pathogenicity	Classic homocystinuria not specified	Criteria Provided Conflicting Classifications	CA10650563	rs_886057102	2 SubmittersRCV000269876 RCV000616419
NM_000071.3(CBS):c.924C>T (p.Tyr308=)	SNV Germline	Chr21:43062983	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection CBS-related disorder	Criteria Provided Conflicting Classifications	CA10653006	rs_149809170	6 SubmittersRCV000862590 RCV001698128 RCV002231052 RCV002374585 RCV003932361
NM_000071.3(CBS):c.301C>G (p.Leu101Val)	SNV Germline	Chr21:43068524	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10653007	rs_369644531	3 SubmittersRCV000310277 RCV002510881 RCV003495126
NM_000071.3(CBS):c.1468-1G>A	SNV Germline	Chr21:43056888	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16041995	rs_1057516895	3 SubmittersRCV000409904 RCV001861382
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)	SNV Unknown	Chr21:43058871	Pathogenic/Likely pathogenic	Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA16041996	rs_1057516645	2 SubmittersRCV000412412
NM_000071.3(CBS):c.1007G>A (p.Arg336His)	SNV Germline	Chr21:43062343	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16041997	rs_760417941	5 SubmittersRCV000409189 RCV001584104 RCV002230729
NM_000071.3(CBS):c.959T>C (p.Val320Ala)	SNV Germline	Chr21:43062391	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria not specified HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16041998	rs_781567152	5 SubmittersRCV000410016 RCV000780081 RCV001000797 RCV001861384
NM_000071.3(CBS):c.954+1G>A	SNV Germline	Chr21:43062952	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16041999	rs_1057517373	5 SubmittersRCV000409556 RCV001251295 RCV001861397
NM_000071.3(CBS):c.903C>G (p.Tyr301Ter)	SNV Unknown	Chr21:43063004	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA16042000	rs_746575551	1 SubmittersRCV000411137
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	SNV Germline	Chr21:43065263	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16042003	rs_763835246	7 SubmittersRCV000412334 RCV001527049 RCV002230214 RCV003168587
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	SNV Germline	Chr21:43066252	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16042005	rs_755952006	7 SubmittersRCV000411624 RCV001193389 RCV002230731 RCV002328897 RCV003314591
NM_000071.3(CBS):c.316+1G>A	SNV Germline	Chr21:43068508	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16042007	rs_1057516256	2 SubmittersRCV000411421 RCV002230213
NM_000071.3(CBS):c.209+1G>C	SNV Germline	Chr21:43071984	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16042008	rs_751464024	3 SubmittersRCV000409345 RCV002230215
NM_000071.3(CBS):c.1425G>A (p.Pro475=)	SNV Germline	Chr21:43058187	Conflicting classifications of pathogenicity	Classic homocystinuria not specified HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA16616532	rs_147885808	4 SubmittersRCV000473993 RCV000615993 RCV002230668 RCV002313194
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)	SNV Germline	Chr21:43068529	Conflicting classifications of pathogenicity	Classic homocystinuria not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA16616548	rs_112029370	5 SubmittersRCV000459701 RCV000497848 RCV001704553 RCV002436393 RCV002525534
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	SNV Germline	Chr21:43060477	Pathogenic/Likely pathogenic	Condition: not provided Homocystinuria Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621012	rs_757920190	4 SubmittersRCV000482454 RCV003155205 RCV003464007 RCV003495133 RCV004541519
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	SNV Germline	Chr21:43063912	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA321094214	rs_528689432	5 SubmittersRCV000507871 RCV000673238 RCV002231187
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)	SNV Germline	Chr21:43066264	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Conflicting Classifications	CA321097472	rs_121964966	6 SubmittersRCV000538588 RCV001755867 RCV002330936 RCV002530067 RCV003915591
NM_000071.3(CBS):c.887C>T (p.Thr296Met)	SNV Germline	Chr21:43063020	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321091405	rs_562530775	4 SubmittersRCV000558244 RCV002530068 RCV002377130
NM_000071.3(CBS):c.737-1G>C	SNV Germline	Chr21:43063992	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA321094412	rs_757428597	5 SubmittersRCV000544919 RCV001260387 RCV002232086 RCV003128628
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)	SNV Germline	Chr21:43068541	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA410602047	rs_1347662650	4 SubmittersRCV000557426 RCV002232085
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)	SNV Germline	Chr21:43065653	Pathogenic	Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED See cases Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA410601403	rs_1347651454	5 SubmittersRCV000587735 RCV002232223 RCV002287426 RCV003459454 RCV002315881
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)	SNV Germline	Chr21:43063003	Pathogenic/Likely pathogenic	Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA321091356	rs_779270933	4 SubmittersRCV000723460 RCV001805199 RCV002232228 RCV003459461
NM_000071.3(CBS):c.1065G>A (p.Ala355=)	SNV Germline	Chr21:43060521	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321689824	rs_748552493	4 SubmittersRCV000648127 RCV001311573 RCV002235258 RCV002406433
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)	SNV Germline	Chr21:43063953	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA321094274	rs_143124288	3 SubmittersRCV002235503 RCV003226347 RCV003459543
NM_000071.3(CBS):c.1358+2T>C	SNV Unknown	Chr21:43058832	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_866630296	1 SubmittersRCV000665384
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	SNV Germline	Chr21:43062368	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Conflicting Classifications		rs_758447354	7 SubmittersRCV000665455 RCV000755891 RCV002233097 RCV003117465
NM_000071.3(CBS):c.1553-2A>C	SNV Germline	Chr21:43053985	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_760609383	2 SubmittersRCV000671969 RCV002233102
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	SNV Germline	Chr21:43063045	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts		rs_141502207	5 SubmittersRCV000671575 RCV002282314 RCV004026125
NM_000071.3(CBS):c.829-1G>C	SNV Unknown	Chr21:43063079	Likely pathogenic	Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1555874263	2 SubmittersRCV000673689
NM_000071.3(CBS):c.829-11G>T	SNV Germline	Chr21:43063089	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Conflicting Classifications		rs_371619788	4 SubmittersRCV000666454 RCV001566836 RCV002060815 RCV003965426
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)	SNV Germline	Chr21:43053960	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_1555869958	2 SubmittersRCV000672976 RCV003495172
NM_000071.3(CBS):c.1553-1G>C	SNV Germline	Chr21:43053984	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_1555869979	2 SubmittersRCV000669704 RCV002232803
NM_000071.3(CBS):c.1552+1G>A	SNV Unknown	Chr21:43056802	Likely pathogenic	Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1434118781	2 SubmittersRCV000670219
NM_000071.3(CBS):c.954+2T>G	SNV Germline	Chr21:43062951	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_1555874121	2 SubmittersRCV000672813 RCV002233103
NM_000071.3(CBS):c.828+1G>A	SNV Germline	Chr21:43063899	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_763290176	9 SubmittersRCV000673023 RCV002060827 RCV002232806 RCV003226363
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	SNV Germline	Chr21:43063976	Conflicting classifications of pathogenicity	Classic homocystinuria CBS-related disorder HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications		rs_1176770868	6 SubmittersRCV000671309 RCV003392512 RCV003495170
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	SNV Germline	Chr21:43065256	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1555874803	4 SubmittersRCV000669206 RCV002232634 RCV003330883
NM_000071.3(CBS):c.451+1G>T	SNV Germline	Chr21:43066242	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_1555875292	2 SubmittersRCV000668133 RCV001861765
NM_000071.3(CBS):c.1359-1G>C	SNV Germline	Chr21:43058254	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_865990681	2 SubmittersRCV000670285 RCV002232804
NM_000071.3(CBS):c.209+2T>C	SNV Unknown	Chr21:43071983	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_1555876755	1 SubmittersRCV000670125
NM_000071.3(CBS):c.493T>G (p.Cys165Gly)	SNV Germline	Chr21:43065654	Pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter		rs_1234354755	2 SubmittersRCV000704014 RCV002233403
NM_000071.3(CBS):c.526G>A (p.Glu176Lys)	SNV Germline	Chr21:43065621	Pathogenic	Homocystinuria Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_762065361	3 SubmittersRCV000781199 RCV001220158 RCV002234174
NM_000071.3(CBS):c.209+1G>A	SNV Germline	Chr21:43071984	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_751464024	8 SubmittersRCV001389140 RCV001558321 RCV000780080 RCV002234171 RCV003424337
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)	SNV Germline	Chr21:43060460	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1170128038	4 SubmittersRCV002234919 RCV003886440 RCV002510583
NM_000071.3(CBS):c.68C>T (p.Ser23Leu)	SNV Germline	Chr21:43072126	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_775785018	4 SubmittersRCV000798452 RCV001538815 RCV002234321 RCV003166168
NM_000071.3(CBS):c.1223+1G>T	SNV Germline	Chr21:43059225	Pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1601339216	2 SubmittersRCV002235005 RCV003485647
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)	SNV Germline	Chr21:43059297	Pathogenic	Classic homocystinuria Condition: not provided Homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1304669003	3 SubmittersRCV001004615 RCV001540545 RCV003994188
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)	SNV Germline	Chr21:43058245	Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1981524462	2 SubmittersRCV002240613 RCV004570272
NM_000071.3(CBS):c.954G>A (p.Thr318=)	SNV Germline	Chr21:43062953	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications		rs_776122644	3 SubmittersRCV001046424 RCV003311934 RCV002552594
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)	SNV Germline	Chr21:43066243	Pathogenic	Homocystinuria Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_373782713	7 SubmittersRCV001264436 RCV001070719 RCV001585975 RCV002240636 RCV002339345 RCV003918663
NM_000071.3(CBS):c.1017C>T (p.Ile339=)	SNV Germline	Chr21:43062333	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Conflicting Classifications		rs_773933333	3 SubmittersRCV001140938 RCV002240655 RCV003898137
NM_000071.3(CBS):c.1146-6C>T	SNV Germline	Chr21:43059309	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications		rs_1981696579	3 SubmittersRCV001140179 RCV002240908
NM_000071.3(CBS):c.684C>A (p.Asn228Lys)	SNV Germline	Chr21:43065255	Pathogenic	Homocystinuria Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_1464223176	4 SubmittersRCV001175076 RCV001833732 RCV003495233
NM_000071.3(CBS):c.429C>G (p.Ile143Met)	SNV Germline	Chr21:43066265	Pathogenic/Likely pathogenic	Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_370167302	3 SubmittersRCV001732080 RCV002241315 RCV003117854
NM_000071.3(CBS):c.941T>C (p.Val314Ala)	SNV Unknown	Chr21:43062966	Pathogenic	Classic homocystinuria	No Assertion Criteria Provided		rs_1438933819	1 SubmittersRCV001257457
NM_000071.3(CBS):c.1210G>T (p.Glu404Ter)	SNV Unknown	Chr21:43059239	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_1981682654	1 SubmittersRCV001264020
NM_000071.3(CBS):c.715G>T (p.Glu239Ter)	SNV Unknown	Chr21:43065224	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_1982493665	1 SubmittersRCV001264021
NM_000071.3(CBS):c.637G>T (p.Glu213Ter)	SNV Unknown	Chr21:43065416	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_758703098	1 SubmittersRCV001264022
NM_000071.3(CBS):c.529A>T (p.Lys177Ter)	SNV Unknown	Chr21:43065618	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_1982601982	1 SubmittersRCV001264023
NM_000071.3(CBS):c.430G>T (p.Glu144Ter)	SNV Unknown	Chr21:43066264	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_121964966	1 SubmittersRCV001264024
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)	SNV Germline	Chr21:43066335	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter		rs_1982750491	2 SubmittersRCV001344817 RCV003154004
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)	SNV Germline	Chr21:43062343	Likely pathogenic	Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_760417941	3 SubmittersRCV001361230 RCV002420789 RCV003154014
NM_000071.3(CBS):c.869C>T (p.Pro290Leu)	SNV Germline	Chr21:43063038	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_760912339	3 SubmittersRCV002242773 RCV003883622 RCV004570927
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter)	SNV Germline	Chr21:43058215	Pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_121964971	3 SubmittersRCV001386107 RCV002242843
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)	SNV Germline	Chr21:43068563	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_2146413970	2 SubmittersRCV002242808 RCV003462980
NM_000071.3(CBS):c.753G>T (p.Leu251=)	SNV Germline	Chr21:43063975	Conflicting classifications of pathogenicity	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Conflicting Classifications		rs_2146375662	2 SubmittersRCV002240270 RCV001455036
NM_000071.3(CBS):c.667-1G>C	SNV Germline	Chr21:43065273	Pathogenic	Classic homocystinuria	No Assertion Criteria Provided		rs_1982513394	1 SubmittersRCV001787317
NM_000071.3(CBS):c.210-1G>C	SNV Germline	Chr21:43068616	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_2146414477	2 SubmittersRCV002017343 RCV003464378
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)	SNV Germline	Chr21:43060505	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Homocystinuria Classic homocystinuria	Criteria Provided Conflicting Classifications		rs_745764562	4 SubmittersRCV002244591 RCV002427733 RCV003226536 RCV003464409
NM_000071.3(CBS):c.667-14C>G	SNV Germline	Chr21:43065286	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications		rs_1388184910	2 SubmittersRCV002272703 RCV003096132
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)	SNV Germline	Chr21:43063944	Likely pathogenic	Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002293059 RCV003101691 RCV004572125
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)	SNV Unknown	Chr21:43060511	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV002309720
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)	SNV Germline	Chr21:43062958	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003075119 RCV003234597
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)	SNV Germline	Chr21:43068563	Conflicting classifications of pathogenicity	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Conflicting Classifications			2 SubmittersRCV002601595 RCV003340518
NM_000071.3(CBS):c.767G>T (p.Gly256Val)	SNV Germline	Chr21:43063961	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003234731
NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)	SNV Germline	Chr21:43058886	Likely pathogenic	CBS-related disorder Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003404293 RCV004572969
NM_000071.3(CBS):c.689T>A (p.Leu230Gln)	SNV Unknown	Chr21:43065250	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460335
NM_000071.3(CBS):c.1358+2T>A	SNV Unknown	Chr21:43058832	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460336
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)	SNV Germline	Chr21:43065212	Pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003460337 RCV003495344
NM_000071.3(CBS):c.913G>A (p.Gly305Arg)	SNV Unknown	Chr21:43062994	Pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460338
NM_000071.3(CBS):c.1039+2T>C	SNV Unknown	Chr21:43062309	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460339
NM_000071.3(CBS):c.407T>C (p.Leu136Pro)	SNV Unknown	Chr21:43066287	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460340
NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)	SNV Unknown	Chr21:43058156	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460342
NM_000071.3(CBS):c.209+1G>T	SNV Unknown	Chr21:43071984	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460343
NM_000071.3(CBS):c.1359-2A>T	SNV Unknown	Chr21:43058255	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460344
NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)	SNV Unknown	Chr21:43058933	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460345
NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)	SNV Unknown	Chr21:43058874	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460350
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)	SNV Germline	Chr21:43063018	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003460351 RCV003779148
NM_000071.3(CBS):c.694C>G (p.His232Asp)	SNV Unknown	Chr21:43065245	Pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460352
NM_000071.3(CBS):c.1145+1G>A	SNV Germline	Chr21:43060440	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003460353 RCV003598178
NM_000071.3(CBS):c.1040-2A>G	SNV Unknown	Chr21:43060548	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460355
NM_000071.3(CBS):c.796A>G (p.Arg266Gly)	SNV Unknown	Chr21:43063932	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460356
NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)	SNV Germline	Chr21:43062314	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003448861
NM_000071.3(CBS):c.1357G>A (p.Gly453Arg)	SNV Germline	Chr21:43058835	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003989272
NM_000071.3(CBS):c.210-2A>C	SNV Germline	Chr21:43068617	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018179
NM_000071.3(CBS):c.452-2A>C	SNV Germline	Chr21:43065697	Pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018180
NM_000071.3(CBS):c.833T>G (p.Ile278Ser)	SNV Germline	Chr21:43063074	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018181
NM_000071.3(CBS):c.955-2A>T	SNV Germline	Chr21:43062397	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018182
NM_000071.3(CBS):c.1039+2T>G	SNV Germline	Chr21:43062309	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018213
NM_000071.3(CBS):c.955-2A>C	SNV Germline	Chr21:43062397	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018214
NM_000071.3(CBS):c.829-1G>T	SNV Unknown	Chr21:43063079	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004575494
NM_000071.3(CBS):c.883C>T (p.Gln295Ter)	SNV Unknown	Chr21:43063024	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004575495
NM_000071.3(CBS):c.1229G>A (p.Trp410Ter)	SNV Unknown	Chr21:43058963	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004575496
NM_000071.3(CBS):c.1039+1G>A	SNV Unknown	Chr21:43062310	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004575497

SNV
Germline

Chr21:43062988

Pathogenic

Homocystinuria, pyridoxine-nonresponsive
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided
Classic homocystinuria
Homocystinuria
CBS-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113874

rs_121964962

17 SubmittersRCV000000137 RCV000000138 RCV000078112 RCV000173641 RCV000366433 RCV003914786 RCV002313701

NM_000071.3(CBS):c.434C>T (p.Pro145Leu)

SNV
Germline

Chr21:43066260

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-responsive
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA113876

rs_121964963

6 SubmittersRCV000000139 RCV000625555 RCV001250193 RCV002227955

NM_000071.3(CBS):c.341C>T (p.Ala114Val)

SNV
Germline

Chr21:43066353

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-responsive
Condition: not provided
Homocystinuria
Classic homocystinuria
CBS-related disorder
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113878

rs_121964964

18 SubmittersRCV000000140 RCV000200823 RCV000590659 RCV000490533 RCV003952330 RCV002227956 RCV002453244

NM_000071.3(CBS):c.833T>C (p.Ile278Thr)

SNV
Germline

Chr21:43063074

Pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria, pyridoxine-responsive
Condition: not provided
Classic homocystinuria
Homocystinuria
Intellectual disability
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
Thoracic aortic aneurysm or dissection
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA113880

rs_5742905

35 SubmittersRCV000000142 RCV000000141 RCV000078111 RCV000173640 RCV000781197 RCV001252178 RCV002310621 RCV002276525 RCV004584135 RCV003128384

NM_000071.3(CBS):c.430G>A (p.Glu144Lys)

SNV
Germline

Chr21:43066264

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-responsive
Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA113885

rs_121964966

12 SubmittersRCV000000144 RCV000169074 RCV000723427 RCV001251284 RCV002227957 RCV003415595

NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)

SNV
Germline

Chr21:43053920

Conflicting classifications of pathogenicity

Homocystinuria, pyridoxine-responsive
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA113889

rs_121964968

4 SubmittersRCV000000146 RCV000675072 RCV002468955 RCV003597960

NM_000071.3(CBS):c.797G>A (p.Arg266Lys)

SNV
Germline

Chr21:43063931

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-responsive
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113891

rs_121964969

7 SubmittersRCV000000147 RCV000469164 RCV001192721 RCV002227958 RCV001546787 RCV002313702

NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)

SNV
Germline

Chr21:43058862

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria, pyridoxine-responsive
Condition: not provided
Classic homocystinuria
Homocystinuria
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113893

rs_28934891

12 SubmittersRCV000000149 RCV000000148 RCV000078108 RCV000174656 RCV000781196 RCV002381232

NM_000071.3(CBS):c.502G>A (p.Val168Met)

SNV
Germline

Chr21:43065645

Conflicting classifications of pathogenicity

Homocystinuria, pyridoxine-responsive
Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
Homocystinuria
Familial hypercholesterolemia

Criteria Provided
Conflicting Classifications

CA113895

rs_121964970

10 SubmittersRCV000000150 RCV000179250 RCV000458159 RCV002227959 RCV002310622 RCV002265542 RCV004540986

NM_000071.3(CBS):c.1224-2A>C

SNV
Germline

Chr21:43058970

Pathogenic

Homocystinuria, pyridoxine-responsive
Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113897

rs_375846341

17 SubmittersRCV000000151 RCV000174658 RCV000198380 RCV000590542 RCV002227960 RCV003944786 RCV002354142

NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)

SNV
Germline

Chr21:43058215

Conflicting classifications of pathogenicity

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA113900

rs_121964971

7 SubmittersRCV000000153 RCV000675119 RCV002390082 RCV003226154

NM_000071.3(CBS):c.1058C>T (p.Thr353Met)

SNV
Germline

Chr21:43060528

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-nonresponsive
Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA113902

rs_121964972

11 SubmittersRCV000000154 RCV000078106 RCV000169466 RCV002227961 RCV004018522 RCV002271361

NM_000071.3(CBS):c.572C>T (p.Thr191Met)

SNV
Germline

Chr21:43065481

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-nonresponsive
Condition: not provided
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113904

rs_121964973

13 SubmittersRCV000000155 RCV000195441 RCV000576767 RCV000589097 RCV002227962 RCV003914787 RCV004018523

NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)

SNV
Germline

Chr21:43062344

Pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274154

rs_398123151

14 SubmittersRCV000078105 RCV000169310 RCV002228199 RCV001280568 RCV003905038

NM_000071.3(CBS):c.435G>A (p.Pro145=)

SNV
Germline

Chr21:43066259

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA220355

rs_148782895

4 SubmittersRCV000078109 RCV001088690 RCV002228201 RCV003343633

NM_000071.3(CBS):c.829-13G>A

SNV
Germline

Chr21:43063091

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA289976

rs_201106576

6 SubmittersRCV000124151 RCV000287047 RCV002227066 RCV002228268 RCV003915241

NM_000071.3(CBS):c.954+8G>A

SNV
Germline

Chr21:43062945

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA302711

rs_76292057

7 SubmittersRCV000173642 RCV000536701 RCV002228270

NM_000071.3(CBS):c.*18G>A

SNV
Germline

Chr21:43053862

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA289979

rs_200259659

5 SubmittersRCV000124158 RCV001142671 RCV001698966

NM_000071.3(CBS):c.1358+1G>A

SNV
Germline

Chr21:43058833

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA274355

rs_786204679

3 SubmittersRCV000169487 RCV002228614

NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)

SNV
Germline

Chr21:43058876

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA274364

rs_756467921

8 SubmittersRCV000169494 RCV000587586 RCV003153461 RCV003155100 RCV003298197

NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)

SNV
Germline

Chr21:43060450

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA274005

rs_763036586

4 SubmittersRCV000169171 RCV000480748 RCV002517626

NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)

SNV
Germline

Chr21:43062311

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA273978

rs_771298943

11 SubmittersRCV000169132 RCV000197584 RCV000780082 RCV002228607 RCV002390401

NM_000071.3(CBS):c.770C>T (p.Thr257Met)

SNV
Germline

Chr21:43063958

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
Hyperhomocysteinemia
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA274140

rs_758236584

9 SubmittersRCV000169294 RCV000197988 RCV000790997 RCV000780084 RCV002228778 RCV003128393

NM_000071.3(CBS):c.362G>A (p.Arg121His)

SNV
Germline

Chr21:43066332

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA274172

rs_770095972

6 SubmittersRCV000169322 RCV002228611 RCV001192720 RCV002453568

NM_000071.3(CBS):c.346G>A (p.Gly116Arg)

SNV
Germline

Chr21:43066348

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA273957

rs_760214620

5 SubmittersRCV000169116 RCV002228606 RCV001844063

NM_000071.3(CBS):c.306G>C (p.Lys102Asn)

SNV
Germline

Chr21:43068519

Conflicting classifications of pathogenicity

Classic homocystinuria
not specified
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA274220

rs_786204609

4 SubmittersRCV000169368 RCV003226233 RCV002444680 RCV002515197

NM_000071.3(CBS):c.302T>C (p.Leu101Pro)

SNV
Germline

Chr21:43068523

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA274473

rs_786204757

4 SubmittersRCV000169617 RCV001251397 RCV002228615

NM_000071.3(CBS):c.233C>G (p.Pro78Arg)

SNV
Germline

Chr21:43068592

Conflicting classifications of pathogenicity

Classic homocystinuria
not specified
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA274218

rs_786204608

4 SubmittersRCV000169367 RCV003226232 RCV002444679 RCV002515196

NM_000071.3(CBS):c.992C>T (p.Ala331Val)

SNV
Germline

Chr21:43062358

Likely pathogenic

Condition: not provided
Intellectual disability
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA239449

rs_777919630

4 SubmittersRCV000173977 RCV001252181 RCV002516607 RCV003462276

NM_000071.3(CBS):c.1072G>A (p.Val358Met)

SNV
Germline

Chr21:43060514

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA239721

rs_148589243

8 SubmittersRCV000474043 RCV000420634 RCV002415740 RCV002517673

NM_000071.3(CBS):c.374G>A (p.Arg125Gln)

SNV
Germline

Chr21:43066320

Pathogenic

Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA275291

rs_781444670

10 SubmittersRCV000178709 RCV000723426 RCV001804908 RCV002228790

NM_000071.3(CBS):c.785C>T (p.Thr262Met)

SNV
Germline

Chr21:43063943

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA275440

rs_149119723

9 SubmittersRCV000180461 RCV000200469 RCV001251422 RCV002228800

NM_000071.3(CBS):c.362G>T (p.Arg121Leu)

SNV
Germline

Chr21:43066332

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA275933

rs_770095972

3 SubmittersRCV000190373 RCV001857669

NM_000071.3(CBS):c.1479G>A (p.Thr493=)

SNV
Germline

Chr21:43056876

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320891

rs_143225442

8 SubmittersRCV000196475 RCV000471233 RCV001726039 RCV002229438 RCV002310757

NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)

SNV
Germline

Chr21:43058912

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA321746

rs_863223434

5 SubmittersRCV000197292 RCV000584030 RCV003462306 RCV002517170

NM_000071.3(CBS):c.1273G>A (p.Val425Met)

SNV
Germline

Chr21:43058919

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA325175

rs_138211175

5 SubmittersRCV000592999 RCV000554628 RCV002315524 RCV002517169

NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)

SNV
Germline

Chr21:43059226

Likely pathogenic

Condition: not provided
Classic homocystinuria

Criteria Provided
Single Submitter

CA320559

rs_863223433

2 SubmittersRCV000196138 RCV001275690

NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)

SNV
Germline

Chr21:43060451

Pathogenic/Likely pathogenic

Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA320740

rs_769080151

7 SubmittersRCV000196320 RCV001853130 RCV000763061 RCV003987440

NM_000071.3(CBS):c.1111G>A (p.Val371Met)

SNV
Germline

Chr21:43060475

Pathogenic/Likely pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
Homocystinuria
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA320805

rs_372010465

9 SubmittersRCV000196393 RCV000410135 RCV002229026 RCV002433873 RCV003401061 RCV003895256

NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)

SNV
Germline

Chr21:43060481

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
not specified
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA324371

rs_117687681

19 SubmittersRCV000231839 RCV000514877 RCV001526851 RCV002277461 RCV002310759 RCV003401060 RCV002517167

NM_000071.3(CBS):c.1059G>A (p.Thr353=)

SNV
Germline

Chr21:43060527

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
Condition: not provided
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA322372

rs_61735859

8 SubmittersRCV000197907 RCV000230184 RCV001812186 RCV002277458 RCV002310756 RCV002517160

NM_000071.3(CBS):c.992C>A (p.Ala331Glu)

SNV
Germline

Chr21:43062358

Pathogenic/Likely pathogenic

Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA323703

rs_777919630

4 SubmittersRCV000199169 RCV001778782 RCV002228833 RCV003462305

NM_000071.3(CBS):c.969G>A (p.Trp323Ter)

SNV
Germline

Chr21:43062381

Pathogenic/Likely pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA321445

rs_863223432

9 SubmittersRCV000197013 RCV000363392 RCV003495115

NM_000071.3(CBS):c.700G>A (p.Asp234Asn)

SNV
Germline

Chr21:43065239

Pathogenic

Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA324489

rs_773734233

4 SubmittersRCV000199941 RCV000586183 RCV002228832 RCV003462304

NM_000071.3(CBS):c.457G>A (p.Gly153Arg)

SNV
Germline

Chr21:43065690

Conflicting classifications of pathogenicity

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_745704046

7 SubmittersRCV000689266 RCV000781198 RCV002228831 RCV003221852

NM_000071.3(CBS):c.394C>T (p.Arg132Cys)

SNV
Germline

Chr21:43066300

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
Intellectual disability
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
not specified

Criteria Provided
Conflicting Classifications

CA320193

rs_140002610

14 SubmittersRCV000460928 RCV000726351 RCV001252179 RCV002315523 RCV002517995 RCV003993881

NM_000071.3(CBS):c.361C>T (p.Arg121Cys)

SNV
Germline

Chr21:43066333

Pathogenic/Likely pathogenic

Condition: not provided
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA321269

rs_775992753

5 SubmittersRCV000196859 RCV000475484 RCV001192722 RCV002229025

NM_000071.3(CBS):c.325T>C (p.Cys109Arg)

SNV
Germline

Chr21:43066369

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA324303

rs_778220779

9 SubmittersRCV000199752 RCV000248928 RCV000535881 RCV000588375 RCV002229441

NM_000071.3(CBS):c.253G>A (p.Gly85Arg)

SNV
Germline

Chr21:43068572

Pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA319849

rs_863223435

6 SubmittersRCV000195506 RCV001063052 RCV002228834

NM_000071.3(CBS):c.215A>T (p.Lys72Ile)

SNV
Germline

Chr21:43068610

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
not specified
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA320825

rs_192232907

9 SubmittersRCV000196407 RCV001086812 RCV002229442 RCV002277462 RCV002315525 RCV003330559 RCV003907714

NM_000071.3(CBS):c.162G>A (p.Trp54Ter)

SNV
Germline

Chr21:43072032

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA321707

rs_199948079

4 SubmittersRCV000409663 RCV002229029 RCV002282028

NM_000071.3(CBS):c.146C>T (p.Pro49Leu)

SNV
Germline

Chr21:43072048

Pathogenic/Likely pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA325105

rs_148865119

12 SubmittersRCV000200523 RCV000410155 RCV002229028 RCV002310761

NM_000071.3(CBS):c.133C>T (p.Arg45Trp)

SNV
Germline

Chr21:43072061

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA323483

rs_201372812

5 SubmittersRCV000198945 RCV001081627 RCV002381662 RCV002229027

NM_000071.3(CBS):c.*540G>A

SNV
Germline

Chr21:43053340

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
not specified
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA10581423

rs_111386779

5 SubmittersRCV000224812 RCV000226284 RCV000454427 RCV002055001

NM_000071.3(CBS):c.894G>A (p.Gln298=)

SNV
Germline

Chr21:43063013

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10583888

rs_370514077

6 SubmittersRCV000328152 RCV001552886 RCV002229640 RCV002315676

NM_000071.3(CBS):c.1472G>A (p.Arg491His)

SNV
Germline

Chr21:43056883

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10587936

rs_747419767

5 SubmittersRCV000483442 RCV001299974 RCV003153545 RCV004021015

NM_000071.3(CBS):c.1161C>T (p.Ser387=)

SNV
Germline

Chr21:43059288

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10587939

rs_149280976

6 SubmittersRCV000540125 RCV001722373 RCV002229818 RCV002310893

NM_000071.3(CBS):c.786G>A (p.Thr262=)

SNV
Germline

Chr21:43063942

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10587943

rs_551782391

5 SubmittersRCV000320891 RCV001610766 RCV003153547 RCV002311198

NM_000071.3(CBS):c.469G>A (p.Ala157Thr)

SNV
Germline

Chr21:43065678

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA10587952

rs_199817801

4 SubmittersRCV000527354 RCV001589301 RCV002310909 RCV002518703

NM_000071.3(CBS):c.612G>T (p.Val204=)

SNV
Germline

Chr21:43065441

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10644735

rs_539670390

6 SubmittersRCV000430115 RCV000867368 RCV002230705 RCV003912431 RCV004021848

NM_000071.3(CBS):c.600G>A (p.Pro200=)

SNV
Germline

Chr21:43065453

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA10644740

rs_181472622

4 SubmittersRCV000648125 RCV002231053 RCV002356473 RCV003910326

NM_000071.3(CBS):c.373C>T (p.Arg125Trp)

SNV
Germline

Chr21:43066321

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10644742

rs_886057100

7 SubmittersRCV000667483 RCV001175468 RCV002231054 RCV003736733

NM_000071.3(CBS):c.1146-12C>T

SNV
Germline

Chr21:43059315

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA10650555

rs_199550738

2 SubmittersRCV000352918 RCV003597973

NM_000071.3(CBS):c.888G>A (p.Thr296=)

SNV
Germline

Chr21:43063019

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA10650556

rs_769593715

2 SubmittersRCV000269470 RCV002057759

NM_000071.3(CBS):c.-85+10G>C

SNV
Germline

Chr21:43075760

Conflicting classifications of pathogenicity

Classic homocystinuria
not specified

Criteria Provided
Conflicting Classifications

CA10650563

rs_886057102

2 SubmittersRCV000269876 RCV000616419

NM_000071.3(CBS):c.924C>T (p.Tyr308=)

SNV
Germline

Chr21:43062983

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA10653006

rs_149809170

6 SubmittersRCV000862590 RCV001698128 RCV002231052 RCV002374585 RCV003932361

NM_000071.3(CBS):c.301C>G (p.Leu101Val)

SNV
Germline

Chr21:43068524

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA10653007

rs_369644531

3 SubmittersRCV000310277 RCV002510881 RCV003495126

NM_000071.3(CBS):c.1468-1G>A

SNV
Germline

Chr21:43056888

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16041995

rs_1057516895

3 SubmittersRCV000409904 RCV001861382

NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)

SNV
Unknown

Chr21:43058871

Pathogenic/Likely pathogenic

Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16041996

rs_1057516645

2 SubmittersRCV000412412

NM_000071.3(CBS):c.1007G>A (p.Arg336His)

SNV
Germline

Chr21:43062343

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16041997

rs_760417941

5 SubmittersRCV000409189 RCV001584104 RCV002230729

NM_000071.3(CBS):c.959T>C (p.Val320Ala)

SNV
Germline

Chr21:43062391

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
not specified
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16041998

rs_781567152

5 SubmittersRCV000410016 RCV000780081 RCV001000797 RCV001861384

NM_000071.3(CBS):c.954+1G>A

SNV
Germline

Chr21:43062952

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16041999

rs_1057517373

5 SubmittersRCV000409556 RCV001251295 RCV001861397

NM_000071.3(CBS):c.903C>G (p.Tyr301Ter)

SNV
Unknown

Chr21:43063004

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA16042000

rs_746575551

1 SubmittersRCV000411137

NM_000071.3(CBS):c.676G>A (p.Ala226Thr)

SNV
Germline

Chr21:43065263

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16042003

rs_763835246

7 SubmittersRCV000412334 RCV001527049 RCV002230214 RCV003168587

NM_000071.3(CBS):c.442G>A (p.Gly148Arg)

SNV
Germline

Chr21:43066252

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16042005

rs_755952006

7 SubmittersRCV000411624 RCV001193389 RCV002230731 RCV002328897 RCV003314591

NM_000071.3(CBS):c.316+1G>A

SNV
Germline

Chr21:43068508

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16042007

rs_1057516256

2 SubmittersRCV000411421 RCV002230213

NM_000071.3(CBS):c.209+1G>C

SNV
Germline

Chr21:43071984

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16042008

rs_751464024

3 SubmittersRCV000409345 RCV002230215

NM_000071.3(CBS):c.1425G>A (p.Pro475=)

SNV
Germline

Chr21:43058187

Conflicting classifications of pathogenicity

Classic homocystinuria
not specified
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16616532

rs_147885808

4 SubmittersRCV000473993 RCV000615993 RCV002230668 RCV002313194

NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)

SNV
Germline

Chr21:43068529

Conflicting classifications of pathogenicity

Classic homocystinuria
not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA16616548

rs_112029370

5 SubmittersRCV000459701 RCV000497848 RCV001704553 RCV002436393 RCV002525534

NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)

SNV
Germline

Chr21:43060477

Pathogenic/Likely pathogenic

Condition: not provided
Homocystinuria
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16621012

rs_757920190

4 SubmittersRCV000482454 RCV003155205 RCV003464007 RCV003495133 RCV004541519

NM_000071.3(CBS):c.816T>A (p.Cys272Ter)

SNV
Germline

Chr21:43063912

Pathogenic/Likely pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA321094214

rs_528689432

5 SubmittersRCV000507871 RCV000673238 RCV002231187

NM_000071.3(CBS):c.430G>C (p.Glu144Gln)

SNV
Germline

Chr21:43066264

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA321097472

rs_121964966

6 SubmittersRCV000538588 RCV001755867 RCV002330936 RCV002530067 RCV003915591

NM_000071.3(CBS):c.887C>T (p.Thr296Met)

SNV
Germline

Chr21:43063020

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321091405

rs_562530775

4 SubmittersRCV000558244 RCV002530068 RCV002377130

NM_000071.3(CBS):c.737-1G>C

SNV
Germline

Chr21:43063992

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA321094412

rs_757428597

5 SubmittersRCV000544919 RCV001260387 RCV002232086 RCV003128628

NM_000071.3(CBS):c.284T>C (p.Ile95Thr)

SNV
Germline

Chr21:43068541

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA410602047

rs_1347662650

4 SubmittersRCV000557426 RCV002232085

NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)

SNV
Germline

Chr21:43065653

Pathogenic

Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
See cases
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA410601403

rs_1347651454

5 SubmittersRCV000587735 RCV002232223 RCV002287426 RCV003459454 RCV002315881

NM_000071.3(CBS):c.904G>A (p.Glu302Lys)

SNV
Germline

Chr21:43063003

Pathogenic/Likely pathogenic

Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA321091356

rs_779270933

4 SubmittersRCV000723460 RCV001805199 RCV002232228 RCV003459461

NM_000071.3(CBS):c.1065G>A (p.Ala355=)

SNV
Germline

Chr21:43060521

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321689824

rs_748552493

4 SubmittersRCV000648127 RCV001311573 RCV002235258 RCV002406433

NM_000071.3(CBS):c.775G>A (p.Gly259Ser)

SNV
Germline

Chr21:43063953

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA321094274

rs_143124288

3 SubmittersRCV002235503 RCV003226347 RCV003459543

NM_000071.3(CBS):c.1358+2T>C

SNV
Unknown

Chr21:43058832

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_866630296

1 SubmittersRCV000665384

NM_000071.3(CBS):c.982G>A (p.Asp328Asn)

SNV
Germline

Chr21:43062368

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Conflicting Classifications

rs_758447354

7 SubmittersRCV000665455 RCV000755891 RCV002233097 RCV003117465

NM_000071.3(CBS):c.1553-2A>C

SNV
Germline

Chr21:43053985

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_760609383

2 SubmittersRCV000671969 RCV002233102

NM_000071.3(CBS):c.862G>A (p.Ala288Thr)

SNV
Germline

Chr21:43063045

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_141502207

5 SubmittersRCV000671575 RCV002282314 RCV004026125

NM_000071.3(CBS):c.829-1G>C

SNV
Unknown

Chr21:43063079

Likely pathogenic

Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555874263

2 SubmittersRCV000673689

NM_000071.3(CBS):c.829-11G>T

SNV
Germline

Chr21:43063089

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Conflicting Classifications

rs_371619788

4 SubmittersRCV000666454 RCV001566836 RCV002060815 RCV003965426

NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)

SNV
Germline

Chr21:43053960

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555869958

2 SubmittersRCV000672976 RCV003495172

NM_000071.3(CBS):c.1553-1G>C

SNV
Germline

Chr21:43053984

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555869979

2 SubmittersRCV000669704 RCV002232803

NM_000071.3(CBS):c.1552+1G>A

SNV
Unknown

Chr21:43056802

Likely pathogenic

Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1434118781

2 SubmittersRCV000670219

NM_000071.3(CBS):c.954+2T>G

SNV
Germline

Chr21:43062951

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555874121

2 SubmittersRCV000672813 RCV002233103

NM_000071.3(CBS):c.828+1G>A

SNV
Germline

Chr21:43063899

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_763290176

9 SubmittersRCV000673023 RCV002060827 RCV002232806 RCV003226363

NM_000071.3(CBS):c.752T>C (p.Leu251Pro)

SNV
Germline

Chr21:43063976

Conflicting classifications of pathogenicity

Classic homocystinuria
CBS-related disorder
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

rs_1176770868

6 SubmittersRCV000671309 RCV003392512 RCV003495170

NM_000071.3(CBS):c.683A>G (p.Asn228Ser)

SNV
Germline

Chr21:43065256

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555874803

4 SubmittersRCV000669206 RCV002232634 RCV003330883

NM_000071.3(CBS):c.451+1G>T

SNV
Germline

Chr21:43066242

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555875292

2 SubmittersRCV000668133 RCV001861765

NM_000071.3(CBS):c.1359-1G>C

SNV
Germline

Chr21:43058254

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_865990681

2 SubmittersRCV000670285 RCV002232804

NM_000071.3(CBS):c.209+2T>C

SNV
Unknown

Chr21:43071983

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_1555876755

1 SubmittersRCV000670125

NM_000071.3(CBS):c.493T>G (p.Cys165Gly)

SNV
Germline

Chr21:43065654

Pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

rs_1234354755

2 SubmittersRCV000704014 RCV002233403

NM_000071.3(CBS):c.526G>A (p.Glu176Lys)

SNV
Germline

Chr21:43065621

Pathogenic

Homocystinuria
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_762065361

3 SubmittersRCV000781199 RCV001220158 RCV002234174

NM_000071.3(CBS):c.209+1G>A

SNV
Germline

Chr21:43071984

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_751464024

8 SubmittersRCV001389140 RCV001558321 RCV000780080 RCV002234171 RCV003424337

NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)

SNV
Germline

Chr21:43060460

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1170128038

4 SubmittersRCV002234919 RCV003886440 RCV002510583

NM_000071.3(CBS):c.68C>T (p.Ser23Leu)

SNV
Germline

Chr21:43072126

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_775785018

4 SubmittersRCV000798452 RCV001538815 RCV002234321 RCV003166168

NM_000071.3(CBS):c.1223+1G>T

SNV
Germline

Chr21:43059225

Pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1601339216

2 SubmittersRCV002235005 RCV003485647

NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)

SNV
Germline

Chr21:43059297

Pathogenic

Classic homocystinuria
Condition: not provided
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1304669003

3 SubmittersRCV001004615 RCV001540545 RCV003994188

NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)

SNV
Germline

Chr21:43058245

Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1981524462

2 SubmittersRCV002240613 RCV004570272

NM_000071.3(CBS):c.954G>A (p.Thr318=)

SNV
Germline

Chr21:43062953

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

rs_776122644

3 SubmittersRCV001046424 RCV003311934 RCV002552594

NM_000071.3(CBS):c.451G>A (p.Gly151Arg)

SNV
Germline

Chr21:43066243

Pathogenic

Homocystinuria
Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_373782713

7 SubmittersRCV001264436 RCV001070719 RCV001585975 RCV002240636 RCV002339345 RCV003918663

NM_000071.3(CBS):c.1017C>T (p.Ile339=)

SNV
Germline

Chr21:43062333

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Conflicting Classifications

rs_773933333

3 SubmittersRCV001140938 RCV002240655 RCV003898137

NM_000071.3(CBS):c.1146-6C>T

SNV
Germline

Chr21:43059309

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

rs_1981696579

3 SubmittersRCV001140179 RCV002240908

NM_000071.3(CBS):c.684C>A (p.Asn228Lys)

SNV
Germline

Chr21:43065255

Pathogenic

Homocystinuria
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_1464223176

4 SubmittersRCV001175076 RCV001833732 RCV003495233

NM_000071.3(CBS):c.429C>G (p.Ile143Met)

SNV
Germline

Chr21:43066265

Pathogenic/Likely pathogenic

Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_370167302

3 SubmittersRCV001732080 RCV002241315 RCV003117854

NM_000071.3(CBS):c.941T>C (p.Val314Ala)

SNV
Unknown

Chr21:43062966

Pathogenic

Classic homocystinuria

No Assertion Criteria Provided

rs_1438933819

1 SubmittersRCV001257457

NM_000071.3(CBS):c.1210G>T (p.Glu404Ter)

SNV
Unknown

Chr21:43059239

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_1981682654

1 SubmittersRCV001264020

NM_000071.3(CBS):c.715G>T (p.Glu239Ter)

SNV
Unknown

Chr21:43065224

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_1982493665

1 SubmittersRCV001264021

NM_000071.3(CBS):c.637G>T (p.Glu213Ter)

SNV
Unknown

Chr21:43065416

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_758703098

1 SubmittersRCV001264022

NM_000071.3(CBS):c.529A>T (p.Lys177Ter)

SNV
Unknown

Chr21:43065618

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_1982601982

1 SubmittersRCV001264023

NM_000071.3(CBS):c.430G>T (p.Glu144Ter)

SNV
Unknown

Chr21:43066264

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_121964966

1 SubmittersRCV001264024

NM_000071.3(CBS):c.359A>G (p.Asp120Gly)

SNV
Germline

Chr21:43066335

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

rs_1982750491

2 SubmittersRCV001344817 RCV003154004

NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)

SNV
Germline

Chr21:43062343

Likely pathogenic

Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_760417941

3 SubmittersRCV001361230 RCV002420789 RCV003154014

NM_000071.3(CBS):c.869C>T (p.Pro290Leu)

SNV
Germline

Chr21:43063038

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_760912339

3 SubmittersRCV002242773 RCV003883622 RCV004570927

NM_000071.3(CBS):c.1397C>A (p.Ser466Ter)

SNV
Germline

Chr21:43058215

Pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_121964971

3 SubmittersRCV001386107 RCV002242843

NM_000071.3(CBS):c.262C>T (p.Pro88Ser)

SNV
Germline

Chr21:43068563

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_2146413970

2 SubmittersRCV002242808 RCV003462980

NM_000071.3(CBS):c.753G>T (p.Leu251=)

SNV
Germline

Chr21:43063975

Conflicting classifications of pathogenicity

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Conflicting Classifications

rs_2146375662

2 SubmittersRCV002240270 RCV001455036

NM_000071.3(CBS):c.667-1G>C

SNV
Germline

Chr21:43065273

Pathogenic

Classic homocystinuria

No Assertion Criteria Provided

rs_1982513394

1 SubmittersRCV001787317

NM_000071.3(CBS):c.210-1G>C

SNV
Germline

Chr21:43068616

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_2146414477

2 SubmittersRCV002017343 RCV003464378

NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)

SNV
Germline

Chr21:43060505

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Homocystinuria
Classic homocystinuria

Criteria Provided
Conflicting Classifications

rs_745764562

4 SubmittersRCV002244591 RCV002427733 RCV003226536 RCV003464409

NM_000071.3(CBS):c.667-14C>G

SNV
Germline

Chr21:43065286

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

rs_1388184910

2 SubmittersRCV002272703 RCV003096132

NM_000071.3(CBS):c.784A>G (p.Thr262Ala)

SNV
Germline

Chr21:43063944

Likely pathogenic

Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002293059 RCV003101691 RCV004572125

NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)

SNV
Unknown

Chr21:43060511

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV002309720

NM_000071.3(CBS):c.949A>G (p.Arg317Gly)

SNV
Germline

Chr21:43062958

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003075119 RCV003234597

NM_000071.3(CBS):c.262C>G (p.Pro88Ala)

SNV
Germline

Chr21:43068563

Conflicting classifications of pathogenicity

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002601595 RCV003340518

NM_000071.3(CBS):c.767G>T (p.Gly256Val)

SNV
Germline

Chr21:43063961

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003234731

NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)

SNV
Germline

Chr21:43058886

Likely pathogenic

CBS-related disorder
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003404293 RCV004572969

NM_000071.3(CBS):c.689T>A (p.Leu230Gln)

SNV
Unknown

Chr21:43065250

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460335

NM_000071.3(CBS):c.1358+2T>A

SNV
Unknown

Chr21:43058832

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460336

NM_000071.3(CBS):c.727C>T (p.Gln243Ter)

SNV
Germline

Chr21:43065212

Pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460337 RCV003495344

NM_000071.3(CBS):c.913G>A (p.Gly305Arg)

SNV
Unknown

Chr21:43062994

Pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460338

NM_000071.3(CBS):c.1039+2T>C

SNV
Unknown

Chr21:43062309

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460339

NM_000071.3(CBS):c.407T>C (p.Leu136Pro)

SNV
Unknown

Chr21:43066287

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460340

NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)

SNV
Unknown

Chr21:43058156

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460342

NM_000071.3(CBS):c.209+1G>T

SNV
Unknown

Chr21:43071984

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460343

NM_000071.3(CBS):c.1359-2A>T

SNV
Unknown

Chr21:43058255

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460344

NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)

SNV
Unknown

Chr21:43058933

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460345

NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)

SNV
Unknown

Chr21:43058874

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460350

NM_000071.3(CBS):c.889G>T (p.Glu297Ter)

SNV
Germline

Chr21:43063018

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460351 RCV003779148

NM_000071.3(CBS):c.694C>G (p.His232Asp)

SNV
Unknown

Chr21:43065245

Pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460352

NM_000071.3(CBS):c.1145+1G>A

SNV
Germline

Chr21:43060440

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460353 RCV003598178

NM_000071.3(CBS):c.1040-2A>G

SNV
Unknown

Chr21:43060548

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460355

NM_000071.3(CBS):c.796A>G (p.Arg266Gly)

SNV
Unknown

Chr21:43063932

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460356

NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)

SNV
Germline

Chr21:43062314

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003448861

NM_000071.3(CBS):c.1357G>A (p.Gly453Arg)

SNV
Germline

Chr21:43058835

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003989272

NM_000071.3(CBS):c.210-2A>C

SNV
Germline

Chr21:43068617

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018179

NM_000071.3(CBS):c.452-2A>C

SNV
Germline

Chr21:43065697

Pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018180

NM_000071.3(CBS):c.833T>G (p.Ile278Ser)

SNV
Germline

Chr21:43063074

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018181

NM_000071.3(CBS):c.955-2A>T

SNV
Germline

Chr21:43062397

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018182

NM_000071.3(CBS):c.1039+2T>G

SNV
Germline

Chr21:43062309

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018213

NM_000071.3(CBS):c.955-2A>C

SNV
Germline

Chr21:43062397

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018214

NM_000071.3(CBS):c.829-1G>T

SNV
Unknown

Chr21:43063079

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004575494

NM_000071.3(CBS):c.883C>T (p.Gln295Ter)

SNV
Unknown

Chr21:43063024

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004575495

NM_000071.3(CBS):c.1229G>A (p.Trp410Ter)

SNV
Unknown

Chr21:43058963

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004575496

NM_000071.3(CBS):c.1039+1G>A

SNV
Unknown

Chr21:43062310

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004575497