Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter)	SNV Germline	Chr1:11800251	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Abnormality of metabolism/homeostasis	Criteria Provided Multiple Submitters No Conflicts	CA278050	rs_121434294	5 SubmittersRCV001209716 RCV001813944
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)	SNV Germline	Chr1:11801166	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278053	rs_121434295	6 SubmittersRCV001382824 RCV002476918 RCV003460410 RCV004719616
NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser)	SNV Germline	Chr1:11795158	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA278055	rs_267606887	2 SubmittersRCV002225067
NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly)	SNV Germline	Chr1:11795114	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA278057	rs_267606886	2 SubmittersRCV001851626
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)	SNV Germline	Chr1:11794766	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications	CA278059	rs_121434296	7 SubmittersRCV000642247 RCV000756357 RCV003460411
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)	SNV Germline	Chr1:11795161	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA278061	rs_121434297	4 SubmittersRCV002512718 RCV003466798
NM_005957.5(MTHFR):c.1969T>C (p.Ter657Arg)	SNV Germline	Chr1:11790682	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Single Submitter	CA198664	rs_768434408	2 SubmittersRCV000167626 RCV004567355
NM_005957.5(MTHFR):c.1883T>C (p.Leu628Pro)	SNV Germline	Chr1:11790768	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198661	rs_786204037	1 SubmittersRCV000167625
NM_005957.5(MTHFR):c.1808C>G (p.Ser603Cys)	SNV Germline	Chr1:11790843	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198658	rs_758206023	1 SubmittersRCV000167624
NM_005957.5(MTHFR):c.1753-18G>A	SNV Germline	Chr1:11790916	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198651	rs_777661576	3 SubmittersRCV000167621 RCV003462251
NM_005957.5(MTHFR):c.1752+1G>T	SNV Germline	Chr1:11791206	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198650	rs_747846362	3 SubmittersRCV000167620 RCV003468817
NM_005957.5(MTHFR):c.1724T>G (p.Val575Gly)	SNV Germline	Chr1:11791235	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198647	rs_786204031	1 SubmittersRCV000167619
NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter)	SNV Germline	Chr1:11791276	Pathogenic; risk factor	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198644	rs_786204030	3 SubmittersRCV000167618 RCV000709684 RCV003468816
NM_005957.5(MTHFR):c.1632+2T>G	SNV Germline	Chr1:11792276	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198643	rs_749765738	6 SubmittersRCV000167617 RCV001753577 RCV002492678 RCV003468815
NM_005957.5(MTHFR):c.1530+2T>C	SNV Germline	Chr1:11793905	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198639	rs_786204027	1 SubmittersRCV000167615
NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp)	SNV Germline	Chr1:11793921	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA198636	rs_786204026	2 SubmittersRCV000167614
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)	SNV Germline	Chr1:11794385	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198633	rs_367585605	4 SubmittersRCV000167613 RCV002498831 RCV003462250
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)	SNV Germline	Chr1:11794443	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198630	rs_200137991	5 SubmittersRCV000167612 RCV001268212 RCV003462249
NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu)	SNV Germline	Chr1:11794781	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198626	rs_786204024	1 SubmittersRCV000167610
NM_005957.5(MTHFR):c.1042C>T (p.Pro348Ser)	SNV Germline	Chr1:11794853	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198617	rs_786204021	1 SubmittersRCV000167607
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)	SNV Germline	Chr1:11795125	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive not specified	Criteria Provided Conflicting Classifications	CA198614	rs_543016186	5 SubmittersRCV000167606 RCV003468814 RCV004526623
NM_005957.5(MTHFR):c.780+1G>T	SNV Germline	Chr1:11796205	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198613	rs_786204020	1 SubmittersRCV000167605
NM_005957.5(MTHFR):c.769T>G (p.Phe257Val)	SNV Germline	Chr1:11796217	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198610	rs_786204019	1 SubmittersRCV000167604
NM_005957.5(MTHFR):c.764G>T (p.Gly255Val)	SNV Germline	Chr1:11796222	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198604	rs_786204018	1 SubmittersRCV000167602
NM_005957.5(MTHFR):c.673A>C (p.Ile225Leu)	SNV Germline	Chr1:11796313	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198595	rs_200100285	1 SubmittersRCV000167599
NM_005957.5(MTHFR):c.587G>A (p.Gly196Asp)	SNV Germline	Chr1:11796399	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198589	rs_786204014	1 SubmittersRCV000167597
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)	SNV Germline	Chr1:11800250	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect	Criteria Provided Multiple Submitters No Conflicts	CA198586	rs_574132670	8 SubmittersRCV000167596 RCV000993916 RCV003468813 RCV004786480
NM_005957.5(MTHFR):c.440A>C (p.Gln147Pro)	SNV Germline	Chr1:11801196	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Single Submitter	CA198583	rs_786204013	2 SubmittersRCV000167595 RCV004567354
NM_005957.5(MTHFR):c.388T>C (p.Cys130Arg)	SNV Germline	Chr1:11801248	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198580	rs_786204012	1 SubmittersRCV000167594
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr)	SNV Germline	Chr1:11801257	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency not specified	Criteria Provided Conflicting Classifications	CA198577	rs_769381688	3 SubmittersRCV000167593 RCV003323422
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr)	SNV Germline	Chr1:11801299	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198574	rs_147257424	3 SubmittersRCV000167592 RCV003462247
NM_005957.5(MTHFR):c.244C>T (p.Arg82Trp)	SNV Germline	Chr1:11801392	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198568	rs_786204009	1 SubmittersRCV000167590
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)	SNV Germline	Chr1:11802915	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198565	rs_763539350	6 SubmittersRCV000167589 RCV003462246
NM_005957.5(MTHFR):c.176G>C (p.Trp59Ser)	SNV Germline	Chr1:11802941	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198562	rs_786204007	1 SubmittersRCV000167588
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)	SNV Germline	Chr1:11802980	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198559	rs_776483190	4 SubmittersRCV000167587 RCV003468812
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)	SNV Germline	Chr1:11792354	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect MTHFR-related disorder	Criteria Provided Conflicting Classifications	CA239275	rs_45449298	7 SubmittersRCV000173820 RCV001081882 RCV000763727 RCV003947466
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)	SNV Germline	Chr1:11794045	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency MTHFR-related disorder	Criteria Provided Conflicting Classifications	CA248138	rs_79157191	3 SubmittersRCV000180626 RCV001079521 RCV003967447
NM_005957.5(MTHFR):c.1515C>T (p.Gly505=)	SNV Germline	Chr1:11793922	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA248141	rs_376927238	2 SubmittersRCV000180627 RCV001493852
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys)	SNV Germline	Chr1:11794862	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA595462	rs_759031330	2 SubmittersRCV000416797
NM_005957.5(MTHFR):c.604C>A (p.Pro202Thr)	SNV Germline	Chr1:11796382	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA16044132	rs_1057519361	2 SubmittersRCV000416935
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)	SNV Germline	Chr1:11801220	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect not specified Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications	CA16044133	rs_1057519360	5 SubmittersRCV000416816 RCV002503824 RCV003235132 RCV003468969
NM_005957.5(MTHFR):c.236+1G>A	SNV Germline/somatic	Chr1:11802880	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided	No Assertion Criteria Provided	CA16044134	rs_1057519359	2 SubmittersRCV000416674 RCV002265687
NM_005957.5(MTHFR):c.348C>T (p.Ala116=)	SNV Germline	Chr1:11801288	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA595685	rs_144921426	4 SubmittersRCV000295603 RCV001080742 RCV004021088
NM_005957.5(MTHFR):c.788A>C (p.His263Pro)	SNV Germline	Chr1:11795341	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA595534	rs_142612062	2 SubmittersRCV000320382 RCV001081108
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)	SNV Germline	Chr1:11796278	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Inborn genetic diseases MTHFR-related disorder	Criteria Provided Conflicting Classifications	CA595572	rs_34279942	7 SubmittersRCV000289836 RCV001082332 RCV002365318 RCV003957475
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)	SNV Germline	Chr1:11790890	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA595188	rs_115049252	7 SubmittersRCV000733915 RCV001086227 RCV002411180
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)	SNV Germline	Chr1:11796313	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Schizophrenia Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect Homocystinuria due to methylene tetrahydrofolate reductase deficiency Schizophrenia Condition: not provided	Criteria Provided Conflicting Classifications		rs_200100285	4 SubmittersRCV001894913 RCV002468946 RCV002506924 RCV004691452
NM_005957.5(MTHFR):c.1530G>A (p.Lys510=)	SNV Germline	Chr1:11793907	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA595335	rs_765586205	3 SubmittersRCV000546103 RCV003470753 RCV004592577
NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter)	SNV Germline	Chr1:11794823	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA595452	rs_377443637	5 SubmittersRCV000538018 RCV004568822
NM_005957.5(MTHFR):c.1032-6A>G	SNV Germline	Chr1:11794869	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency MTHFR-related disorder	Criteria Provided Conflicting Classifications	CA595464	rs_2066464	3 SubmittersRCV000591861 RCV001079669 RCV003952969
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)	SNV Germline	Chr1:11796319	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency not specified	Criteria Provided Conflicting Classifications	CA595582	rs_150847674	5 SubmittersRCV000595772 RCV001082026 RCV004701685
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)	SNV Germline	Chr1:11803114	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA595764	rs_373076763	3 SubmittersRCV000594799 RCV002265818
NM_005957.5(MTHFR):c.111G>A (p.Leu37=)	SNV Germline	Chr1:11803006	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA416360525	rs_1553188013	2 SubmittersRCV000597835 RCV002531084
NM_005957.5(MTHFR):c.426G>T (p.Leu142=)	SNV Germline	Chr1:11801210	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA416360072	rs_1553187352	2 SubmittersRCV000594264 RCV002062084
NM_005957.5(MTHFR):c.1A>G (p.Met1Val)	SNV Germline	Chr1:11803116	Pathogenic/Likely pathogenic	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA595765	rs_776734688	2 SubmittersRCV000599118 RCV002532693
NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser)	SNV Germline	Chr1:11801399	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA338422769	rs_1553187509	1 SubmittersRCV000625779
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter)	SNV Germline	Chr1:11802963	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA17975257	rs_986604359	4 SubmittersRCV000625848 RCV003465361
NM_005957.5(MTHFR):c.1538T>G (p.Leu513Ter)	SNV Germline	Chr1:11792372	Likely pathogenic	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_1553185069	2 SubmittersRCV000657793 RCV003387441
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His)	SNV Germline	Chr1:11794732	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_769953411	3 SubmittersRCV000661921 RCV002263926 RCV004689830
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)	SNV Germline	Chr1:11802962	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Schizophrenia Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_754980119	6 SubmittersRCV000690846 RCV002245591 RCV002477553 RCV003459684
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)	SNV Germline	Chr1:11794442	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_200688214	3 SubmittersRCV000702419 RCV003313135
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)	SNV Germline	Chr1:11792285	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency MTHFR-related disorder	Criteria Provided Conflicting Classifications		rs_145641996	5 SubmittersRCV000731422 RCV001401394 RCV003980376
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)	SNV Germline	Chr1:11791260	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_140277700	8 SubmittersRCV000817838 RCV001543555 RCV003461249
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter)	SNV Germline	Chr1:11794029	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_139645527	5 SubmittersRCV000791536 RCV003461066
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=)	SNV Germline	Chr1:11794385	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_367585605	3 SubmittersRCV000809330 RCV002381796
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)	SNV Germline	Chr1:11794765	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_750323424	3 SubmittersRCV000810485 RCV003461196
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)	SNV Germline	Chr1:11795116	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_368321176	3 SubmittersRCV000813708 RCV003461217
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)	SNV Germline	Chr1:11796306	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications		rs_748571395	6 SubmittersRCV000985005 RCV003461295
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)	SNV Germline	Chr1:11802884	Pathogenic/Likely pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_776969786	4 SubmittersRCV000986238 RCV001236475
NM_005957.5(MTHFR):c.237-2A>C	SNV Germline	Chr1:11801401	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_1644381879	1 SubmittersRCV001065420
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)	SNV Germline	Chr1:11790681	Conflicting classifications of pathogenicity	Intellectual disability Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications		rs_749490263	4 SubmittersRCV001252321 RCV002570507 RCV003462833
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)	SNV Germline	Chr1:11795156	Conflicting classifications of pathogenicity	Intellectual disability Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications		rs_371085894	6 SubmittersRCV001252318 RCV001786456 RCV003469485 RCV004769976
NM_005957.5(MTHFR):c.475+1G>T	SNV Germline	Chr1:11801160	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_748397580	3 SubmittersRCV001253140 RCV003462834
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)	SNV Germline	Chr1:11791248	Pathogenic/Likely pathogenic	Rare genetic intellectual disability Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV001257010 RCV003770337 RCV003462838
NM_005957.5(MTHFR):c.476A>G (p.Asp159Gly)	SNV Germline	Chr1:11800322	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_1644355976	1 SubmittersRCV001260224
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)	SNV Germline	Chr1:11794825	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_977038830	4 SubmittersRCV001377364 RCV003469502
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	SNV Germline	Chr1:11801177	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_767890671	6 SubmittersRCV001290317 RCV002499515 RCV003462851
NM_005957.5(MTHFR):c.1748G>A (p.Trp583Ter)	SNV Germline	Chr1:11791211	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_1314085200	1 SubmittersRCV001386292
NM_005957.5(MTHFR):c.1166+5G>C	SNV Germline	Chr1:11794724	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_1483632178	3 SubmittersRCV001300805 RCV003462865
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val)	SNV Germline	Chr1:11800214	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_760161369	3 SubmittersRCV001353257 RCV004570861
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)	SNV Germline	Chr1:11791209	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_1644092513	4 SubmittersRCV001377363 RCV003462949
NM_005957.5(MTHFR):c.474A>T (p.Gly158=)	SNV Germline	Chr1:11801162	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_199476142	3 SubmittersRCV001377365 RCV003462950
NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter)	SNV Germline	Chr1:11802915	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_763539350	3 SubmittersRCV001380126 RCV002305606 RCV003462963
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)	SNV Germline	Chr1:11794389	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect	Criteria Provided Multiple Submitters No Conflicts		rs_545086633	5 SubmittersRCV001420163 RCV003463041 RCV004796633
NM_005957.5(MTHFR):c.1270G>T (p.Glu424Ter)	SNV Germline	Chr1:11794435	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_1476689323	1 SubmittersRCV001782466
NM_005957.5(MTHFR):c.1793T>G (p.Leu598Arg)	SNV Germline	Chr1:11790858	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_786204034	1 SubmittersRCV001808247
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)	SNV Germline	Chr1:11801290	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications		rs_1056919085	4 SubmittersRCV001808302 RCV003464148
NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser)	SNV Germline	Chr1:11801299	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_147257424	1 SubmittersRCV001838859
NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys)	SNV Germline	Chr1:11794826	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_779993607	2 SubmittersRCV001999864 RCV004571709
NM_005957.5(MTHFR):c.1262G>A (p.Trp421Ter)	SNV Germline	Chr1:11794443	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_200137991	1 SubmittersRCV001953816
NM_005957.5(MTHFR):c.475+1G>A	SNV Germline	Chr1:11801160	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_748397580	1 SubmittersRCV001995318
NM_005957.5(MTHFR):c.177G>A (p.Trp59Ter)	SNV Germline	Chr1:11802940	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_767789270	1 SubmittersRCV001939988
NM_005957.5(MTHFR):c.495G>A (p.Trp165Ter)	SNV Germline	Chr1:11800303	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_774118546	1 SubmittersRCV001941557
NM_005957.5(MTHFR):c.451A>T (p.Lys151Ter)	SNV Germline	Chr1:11801185	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_2100566841	1 SubmittersRCV001963017
NM_005957.5(MTHFR):c.476-1G>A	SNV Germline	Chr1:11800323	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_2100562061	1 SubmittersRCV002035641
NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr)	SNV Germline	Chr1:11800275	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_1182635980	2 SubmittersRCV001985134 RCV003471099
NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter)	SNV Germline	Chr1:11791302	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_2100499494	1 SubmittersRCV002247150
NM_005957.5(MTHFR):c.2T>A (p.Met1Lys)	SNV Germline	Chr1:11803115	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003093571
NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln)	SNV Germline	Chr1:11794371	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003078768 RCV003250754
NM_005957.5(MTHFR):c.781-1G>A	SNV Germline	Chr1:11795349	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002588344 RCV003459753
NM_005957.5(MTHFR):c.1715C>T (p.Pro572Leu)	SNV Germline	Chr1:11791244	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002630048
NM_005957.5(MTHFR):c.1348-1G>C	SNV Germline	Chr1:11794090	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002510619 RCV003465778
NM_005957.5(MTHFR):c.963C>A (p.Tyr321Ter)	SNV Germline	Chr1:11795166	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002627735
NM_005957.5(MTHFR):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:11803115	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002720888
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)	SNV Germline	Chr1:11795126	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Condition: not provided	Criteria Provided Conflicting Classifications			4 SubmittersRCV002933069 RCV003465867 RCV004801255
NM_005957.5(MTHFR):c.1530+1G>T	SNV Germline	Chr1:11793906	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003026952 RCV003465902
NM_005957.5(MTHFR):c.1682G>A (p.Trp561Ter)	SNV Germline	Chr1:11791277	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003048912
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)	SNV Germline	Chr1:11792306	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications			2 SubmittersRCV003132696 RCV003459784
NM_005957.5(MTHFR):c.781-6G>A	SNV Germline	Chr1:11795354	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003389932
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)	SNV Germline	Chr1:11792307	Likely pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003461960 RCV003523191
NM_005957.5(MTHFR):c.1347+1G>A	SNV Germline	Chr1:11794357	Pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003461967 RCV003523192
NM_005957.5(MTHFR):c.237-2A>G	SNV Germline	Chr1:11801401	Pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003470266 RCV003523193
NM_005957.5(MTHFR):c.780+1G>A	SNV Germline	Chr1:11796205	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003525253
NM_005957.5(MTHFR):c.237-1G>T	SNV Germline	Chr1:11801400	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003525254
NM_005957.5(MTHFR):c.1032-1G>C	SNV Germline	Chr1:11794864	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003523641
NM_005957.5(MTHFR):c.1531-1G>C	SNV Germline	Chr1:11792380	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003523665
NM_005957.5(MTHFR):c.835G>T (p.Glu279Ter)	SNV Germline	Chr1:11795294	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003524706
NM_005957.5(MTHFR):c.1142G>A (p.Trp381Ter)	SNV Germline	Chr1:11794753	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003636097 RCV004574156
NM_005957.5(MTHFR):c.1530+1G>A	SNV Germline	Chr1:11793906	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003637937 RCV004573161
NM_005957.5(MTHFR):c.1297G>T (p.Glu433Ter)	SNV Germline	Chr1:11794408	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003638062
NM_005957.5(MTHFR):c.1047G>A (p.Trp349Ter)	SNV Germline	Chr1:11794848	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003635548
NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)	SNV Germline	Chr1:11796208	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003636670
NM_005957.5(MTHFR):c.1167G>A (p.Trp389Ter)	SNV Germline	Chr1:11794538	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003636755
NM_005957.5(MTHFR):c.1596C>G (p.Tyr532Ter)	SNV Germline	Chr1:11792314	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004515786
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)	SNV Germline	Chr1:11794008	Likely pathogenic	Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect	Criteria Provided Single Submitter			1 SubmittersRCV004795439

NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter)

SNV
Germline

Chr1:11800251

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Abnormality of metabolism/homeostasis

Criteria Provided
Multiple Submitters
No Conflicts

CA278050

rs_121434294

5 SubmittersRCV001209716 RCV001813944

NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)

SNV
Germline

Chr1:11801166

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278053

rs_121434295

6 SubmittersRCV001382824 RCV002476918 RCV003460410 RCV004719616

NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser)

SNV
Germline

Chr1:11795158

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA278055

rs_267606887

2 SubmittersRCV002225067

NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly)

SNV
Germline

Chr1:11795114

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA278057

rs_267606886

2 SubmittersRCV001851626

NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)

SNV
Germline

Chr1:11794766

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

CA278059

rs_121434296

7 SubmittersRCV000642247 RCV000756357 RCV003460411

NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)

SNV
Germline

Chr1:11795161

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA278061

rs_121434297

4 SubmittersRCV002512718 RCV003466798

NM_005957.5(MTHFR):c.1969T>C (p.Ter657Arg)

SNV
Germline

Chr1:11790682

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Single Submitter

CA198664

rs_768434408

2 SubmittersRCV000167626 RCV004567355

NM_005957.5(MTHFR):c.1883T>C (p.Leu628Pro)

SNV
Germline

Chr1:11790768

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198661

rs_786204037

1 SubmittersRCV000167625

NM_005957.5(MTHFR):c.1808C>G (p.Ser603Cys)

SNV
Germline

Chr1:11790843

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198658

rs_758206023

1 SubmittersRCV000167624

NM_005957.5(MTHFR):c.1753-18G>A

SNV
Germline

Chr1:11790916

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198651

rs_777661576

3 SubmittersRCV000167621 RCV003462251

NM_005957.5(MTHFR):c.1752+1G>T

SNV
Germline

Chr1:11791206

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198650

rs_747846362

3 SubmittersRCV000167620 RCV003468817

NM_005957.5(MTHFR):c.1724T>G (p.Val575Gly)

SNV
Germline

Chr1:11791235

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198647

rs_786204031

1 SubmittersRCV000167619

NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter)

SNV
Germline

Chr1:11791276

Pathogenic; risk factor

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198644

rs_786204030

3 SubmittersRCV000167618 RCV000709684 RCV003468816

NM_005957.5(MTHFR):c.1632+2T>G

SNV
Germline

Chr1:11792276

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198643

rs_749765738

6 SubmittersRCV000167617 RCV001753577 RCV002492678 RCV003468815

NM_005957.5(MTHFR):c.1530+2T>C

SNV
Germline

Chr1:11793905

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198639

rs_786204027

1 SubmittersRCV000167615

NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp)

SNV
Germline

Chr1:11793921

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA198636

rs_786204026

2 SubmittersRCV000167614

NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)

SNV
Germline

Chr1:11794385

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198633

rs_367585605

4 SubmittersRCV000167613 RCV002498831 RCV003462250

NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)

SNV
Germline

Chr1:11794443

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198630

rs_200137991

5 SubmittersRCV000167612 RCV001268212 RCV003462249

NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu)

SNV
Germline

Chr1:11794781

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198626

rs_786204024

1 SubmittersRCV000167610

NM_005957.5(MTHFR):c.1042C>T (p.Pro348Ser)

SNV
Germline

Chr1:11794853

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198617

rs_786204021

1 SubmittersRCV000167607

NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)

SNV
Germline

Chr1:11795125

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
not specified

Criteria Provided
Conflicting Classifications

CA198614

rs_543016186

5 SubmittersRCV000167606 RCV003468814 RCV004526623

NM_005957.5(MTHFR):c.780+1G>T

SNV
Germline

Chr1:11796205

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198613

rs_786204020

1 SubmittersRCV000167605

NM_005957.5(MTHFR):c.769T>G (p.Phe257Val)

SNV
Germline

Chr1:11796217

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198610

rs_786204019

1 SubmittersRCV000167604

NM_005957.5(MTHFR):c.764G>T (p.Gly255Val)

SNV
Germline

Chr1:11796222

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198604

rs_786204018

1 SubmittersRCV000167602

NM_005957.5(MTHFR):c.673A>C (p.Ile225Leu)

SNV
Germline

Chr1:11796313

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198595

rs_200100285

1 SubmittersRCV000167599

NM_005957.5(MTHFR):c.587G>A (p.Gly196Asp)

SNV
Germline

Chr1:11796399

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198589

rs_786204014

1 SubmittersRCV000167597

NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)

SNV
Germline

Chr1:11800250

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect

Criteria Provided
Multiple Submitters
No Conflicts

CA198586

rs_574132670

8 SubmittersRCV000167596 RCV000993916 RCV003468813 RCV004786480

NM_005957.5(MTHFR):c.440A>C (p.Gln147Pro)

SNV
Germline

Chr1:11801196

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Single Submitter

CA198583

rs_786204013

2 SubmittersRCV000167595 RCV004567354

NM_005957.5(MTHFR):c.388T>C (p.Cys130Arg)

SNV
Germline

Chr1:11801248

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198580

rs_786204012

1 SubmittersRCV000167594

NM_005957.5(MTHFR):c.379C>T (p.His127Tyr)

SNV
Germline

Chr1:11801257

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA198577

rs_769381688

3 SubmittersRCV000167593 RCV003323422

NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr)

SNV
Germline

Chr1:11801299

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198574

rs_147257424

3 SubmittersRCV000167592 RCV003462247

NM_005957.5(MTHFR):c.244C>T (p.Arg82Trp)

SNV
Germline

Chr1:11801392

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198568

rs_786204009

1 SubmittersRCV000167590

NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)

SNV
Germline

Chr1:11802915

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198565

rs_763539350

6 SubmittersRCV000167589 RCV003462246

NM_005957.5(MTHFR):c.176G>C (p.Trp59Ser)

SNV
Germline

Chr1:11802941

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198562

rs_786204007

1 SubmittersRCV000167588

NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)

SNV
Germline

Chr1:11802980

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198559

rs_776483190

4 SubmittersRCV000167587 RCV003468812

NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)

SNV
Germline

Chr1:11792354

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

CA239275

rs_45449298

7 SubmittersRCV000173820 RCV001081882 RCV000763727 RCV003947466

NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)

SNV
Germline

Chr1:11794045

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

CA248138

rs_79157191

3 SubmittersRCV000180626 RCV001079521 RCV003967447

NM_005957.5(MTHFR):c.1515C>T (p.Gly505=)

SNV
Germline

Chr1:11793922

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA248141

rs_376927238

2 SubmittersRCV000180627 RCV001493852

NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys)

SNV
Germline

Chr1:11794862

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA595462

rs_759031330

2 SubmittersRCV000416797

NM_005957.5(MTHFR):c.604C>A (p.Pro202Thr)

SNV
Germline

Chr1:11796382

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA16044132

rs_1057519361

2 SubmittersRCV000416935

NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)

SNV
Germline

Chr1:11801220

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
not specified
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

CA16044133

rs_1057519360

5 SubmittersRCV000416816 RCV002503824 RCV003235132 RCV003468969

NM_005957.5(MTHFR):c.236+1G>A

SNV
Germline/somatic

Chr1:11802880

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided

No Assertion Criteria Provided

CA16044134

rs_1057519359

2 SubmittersRCV000416674 RCV002265687

NM_005957.5(MTHFR):c.348C>T (p.Ala116=)

SNV
Germline

Chr1:11801288

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA595685

rs_144921426

4 SubmittersRCV000295603 RCV001080742 RCV004021088

NM_005957.5(MTHFR):c.788A>C (p.His263Pro)

SNV
Germline

Chr1:11795341

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA595534

rs_142612062

2 SubmittersRCV000320382 RCV001081108

NM_005957.5(MTHFR):c.708C>T (p.Phe236=)

SNV
Germline

Chr1:11796278

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inborn genetic diseases
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

CA595572

rs_34279942

7 SubmittersRCV000289836 RCV001082332 RCV002365318 RCV003957475

NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)

SNV
Germline

Chr1:11790890

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA595188

rs_115049252

7 SubmittersRCV000733915 RCV001086227 RCV002411180

NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)

SNV
Germline

Chr1:11796313

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Schizophrenia
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Schizophrenia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200100285

4 SubmittersRCV001894913 RCV002468946 RCV002506924 RCV004691452

NM_005957.5(MTHFR):c.1530G>A (p.Lys510=)

SNV
Germline

Chr1:11793907

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA595335

rs_765586205

3 SubmittersRCV000546103 RCV003470753 RCV004592577

NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter)

SNV
Germline

Chr1:11794823

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA595452

rs_377443637

5 SubmittersRCV000538018 RCV004568822

NM_005957.5(MTHFR):c.1032-6A>G

SNV
Germline

Chr1:11794869

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

CA595464

rs_2066464

3 SubmittersRCV000591861 RCV001079669 RCV003952969

NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)

SNV
Germline

Chr1:11796319

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA595582

rs_150847674

5 SubmittersRCV000595772 RCV001082026 RCV004701685

NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)

SNV
Germline

Chr1:11803114

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA595764

rs_373076763

3 SubmittersRCV000594799 RCV002265818

NM_005957.5(MTHFR):c.111G>A (p.Leu37=)

SNV
Germline

Chr1:11803006

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA416360525

rs_1553188013

2 SubmittersRCV000597835 RCV002531084

NM_005957.5(MTHFR):c.426G>T (p.Leu142=)

SNV
Germline

Chr1:11801210

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA416360072

rs_1553187352

2 SubmittersRCV000594264 RCV002062084

NM_005957.5(MTHFR):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:11803116

Pathogenic/Likely pathogenic

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA595765

rs_776734688

2 SubmittersRCV000599118 RCV002532693

NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser)

SNV
Germline

Chr1:11801399

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA338422769

rs_1553187509

1 SubmittersRCV000625779

NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter)

SNV
Germline

Chr1:11802963

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA17975257

rs_986604359

4 SubmittersRCV000625848 RCV003465361

NM_005957.5(MTHFR):c.1538T>G (p.Leu513Ter)

SNV
Germline

Chr1:11792372

Likely pathogenic

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_1553185069

2 SubmittersRCV000657793 RCV003387441

NM_005957.5(MTHFR):c.1163G>A (p.Arg388His)

SNV
Germline

Chr1:11794732

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_769953411

3 SubmittersRCV000661921 RCV002263926 RCV004689830

NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)

SNV
Germline

Chr1:11802962

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive
Schizophrenia
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_754980119

6 SubmittersRCV000690846 RCV002245591 RCV002477553 RCV003459684

NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)

SNV
Germline

Chr1:11794442

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_200688214

3 SubmittersRCV000702419 RCV003313135

NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)

SNV
Germline

Chr1:11792285

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

rs_145641996

5 SubmittersRCV000731422 RCV001401394 RCV003980376

NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)

SNV
Germline

Chr1:11791260

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_140277700

8 SubmittersRCV000817838 RCV001543555 RCV003461249

NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter)

SNV
Germline

Chr1:11794029

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_139645527

5 SubmittersRCV000791536 RCV003461066

NM_005957.5(MTHFR):c.1320G>T (p.Ser440=)

SNV
Germline

Chr1:11794385

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_367585605

3 SubmittersRCV000809330 RCV002381796

NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)

SNV
Germline

Chr1:11794765

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_750323424

3 SubmittersRCV000810485 RCV003461196

NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)

SNV
Germline

Chr1:11795116

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_368321176

3 SubmittersRCV000813708 RCV003461217

NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)

SNV
Germline

Chr1:11796306

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

rs_748571395

6 SubmittersRCV000985005 RCV003461295

NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)

SNV
Germline

Chr1:11802884

Pathogenic/Likely pathogenic

Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_776969786

4 SubmittersRCV000986238 RCV001236475

NM_005957.5(MTHFR):c.237-2A>C

SNV
Germline

Chr1:11801401

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_1644381879

1 SubmittersRCV001065420

NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)

SNV
Germline

Chr1:11790681

Conflicting classifications of pathogenicity

Intellectual disability
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

rs_749490263

4 SubmittersRCV001252321 RCV002570507 RCV003462833

NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)

SNV
Germline

Chr1:11795156

Conflicting classifications of pathogenicity

Intellectual disability
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

rs_371085894

6 SubmittersRCV001252318 RCV001786456 RCV003469485 RCV004769976

NM_005957.5(MTHFR):c.475+1G>T

SNV
Germline

Chr1:11801160

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_748397580

3 SubmittersRCV001253140 RCV003462834

NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)

SNV
Germline

Chr1:11791248

Pathogenic/Likely pathogenic

Rare genetic intellectual disability
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001257010 RCV003770337 RCV003462838

NM_005957.5(MTHFR):c.476A>G (p.Asp159Gly)

SNV
Germline

Chr1:11800322

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_1644355976

1 SubmittersRCV001260224

NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)

SNV
Germline

Chr1:11794825

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_977038830

4 SubmittersRCV001377364 RCV003469502

NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)

SNV
Germline

Chr1:11801177

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_767890671

6 SubmittersRCV001290317 RCV002499515 RCV003462851

NM_005957.5(MTHFR):c.1748G>A (p.Trp583Ter)

SNV
Germline

Chr1:11791211

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_1314085200

1 SubmittersRCV001386292

NM_005957.5(MTHFR):c.1166+5G>C

SNV
Germline

Chr1:11794724

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_1483632178

3 SubmittersRCV001300805 RCV003462865

NM_005957.5(MTHFR):c.584C>T (p.Ala195Val)

SNV
Germline

Chr1:11800214

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_760161369

3 SubmittersRCV001353257 RCV004570861

NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)

SNV
Germline

Chr1:11791209

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_1644092513

4 SubmittersRCV001377363 RCV003462949

NM_005957.5(MTHFR):c.474A>T (p.Gly158=)

SNV
Germline

Chr1:11801162

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_199476142

3 SubmittersRCV001377365 RCV003462950

NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter)

SNV
Germline

Chr1:11802915

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_763539350

3 SubmittersRCV001380126 RCV002305606 RCV003462963

NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)

SNV
Germline

Chr1:11794389

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_545086633

5 SubmittersRCV001420163 RCV003463041 RCV004796633

NM_005957.5(MTHFR):c.1270G>T (p.Glu424Ter)

SNV
Germline

Chr1:11794435

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_1476689323

1 SubmittersRCV001782466

NM_005957.5(MTHFR):c.1793T>G (p.Leu598Arg)

SNV
Germline

Chr1:11790858

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_786204034

1 SubmittersRCV001808247

NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)

SNV
Germline

Chr1:11801290

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

rs_1056919085

4 SubmittersRCV001808302 RCV003464148

NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser)

SNV
Germline

Chr1:11801299

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_147257424

1 SubmittersRCV001838859

NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys)

SNV
Germline

Chr1:11794826

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_779993607

2 SubmittersRCV001999864 RCV004571709

NM_005957.5(MTHFR):c.1262G>A (p.Trp421Ter)

SNV
Germline

Chr1:11794443

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_200137991

1 SubmittersRCV001953816

NM_005957.5(MTHFR):c.475+1G>A

SNV
Germline

Chr1:11801160

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_748397580

1 SubmittersRCV001995318

NM_005957.5(MTHFR):c.177G>A (p.Trp59Ter)

SNV
Germline

Chr1:11802940

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_767789270

1 SubmittersRCV001939988

NM_005957.5(MTHFR):c.495G>A (p.Trp165Ter)

SNV
Germline

Chr1:11800303

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_774118546

1 SubmittersRCV001941557

NM_005957.5(MTHFR):c.451A>T (p.Lys151Ter)

SNV
Germline

Chr1:11801185

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_2100566841

1 SubmittersRCV001963017

NM_005957.5(MTHFR):c.476-1G>A

SNV
Germline

Chr1:11800323

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_2100562061

1 SubmittersRCV002035641

NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr)

SNV
Germline

Chr1:11800275

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_1182635980

2 SubmittersRCV001985134 RCV003471099

NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter)

SNV
Germline

Chr1:11791302

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_2100499494

1 SubmittersRCV002247150

NM_005957.5(MTHFR):c.2T>A (p.Met1Lys)

SNV
Germline

Chr1:11803115

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003093571

NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln)

SNV
Germline

Chr1:11794371

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003078768 RCV003250754

NM_005957.5(MTHFR):c.781-1G>A

SNV
Germline

Chr1:11795349

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002588344 RCV003459753

NM_005957.5(MTHFR):c.1715C>T (p.Pro572Leu)

SNV
Germline

Chr1:11791244

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002630048

NM_005957.5(MTHFR):c.1348-1G>C

SNV
Germline

Chr1:11794090

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002510619 RCV003465778

NM_005957.5(MTHFR):c.963C>A (p.Tyr321Ter)

SNV
Germline

Chr1:11795166

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002627735

NM_005957.5(MTHFR):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:11803115

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002720888

NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)

SNV
Germline

Chr1:11795126

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Condition: not provided

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002933069 RCV003465867 RCV004801255

NM_005957.5(MTHFR):c.1530+1G>T

SNV
Germline

Chr1:11793906

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003026952 RCV003465902

NM_005957.5(MTHFR):c.1682G>A (p.Trp561Ter)

SNV
Germline

Chr1:11791277

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003048912

NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)

SNV
Germline

Chr1:11792306

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003132696 RCV003459784

NM_005957.5(MTHFR):c.781-6G>A

SNV
Germline

Chr1:11795354

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003389932

NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)

SNV
Germline

Chr1:11792307

Likely pathogenic

Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003461960 RCV003523191

NM_005957.5(MTHFR):c.1347+1G>A

SNV
Germline

Chr1:11794357

Pathogenic

Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003461967 RCV003523192

NM_005957.5(MTHFR):c.237-2A>G

SNV
Germline

Chr1:11801401

Pathogenic

Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003470266 RCV003523193

NM_005957.5(MTHFR):c.780+1G>A

SNV
Germline

Chr1:11796205

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003525253

NM_005957.5(MTHFR):c.237-1G>T

SNV
Germline

Chr1:11801400

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003525254

NM_005957.5(MTHFR):c.1032-1G>C

SNV
Germline

Chr1:11794864

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003523641

NM_005957.5(MTHFR):c.1531-1G>C

SNV
Germline

Chr1:11792380

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003523665

NM_005957.5(MTHFR):c.835G>T (p.Glu279Ter)

SNV
Germline

Chr1:11795294

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003524706

NM_005957.5(MTHFR):c.1142G>A (p.Trp381Ter)

SNV
Germline

Chr1:11794753

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003636097 RCV004574156

NM_005957.5(MTHFR):c.1530+1G>A

SNV
Germline

Chr1:11793906

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003637937 RCV004573161

NM_005957.5(MTHFR):c.1297G>T (p.Glu433Ter)

SNV
Germline

Chr1:11794408

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003638062

NM_005957.5(MTHFR):c.1047G>A (p.Trp349Ter)

SNV
Germline

Chr1:11794848

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003635548

NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)

SNV
Germline

Chr1:11796208

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003636670

NM_005957.5(MTHFR):c.1167G>A (p.Trp389Ter)

SNV
Germline

Chr1:11794538

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003636755

NM_005957.5(MTHFR):c.1596C>G (p.Tyr532Ter)

SNV
Germline

Chr1:11792314

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004515786

NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)

SNV
Germline

Chr1:11794008

Likely pathogenic

Neural tube defects, folate-sensitive
Schizophrenia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Single Submitter

1 SubmittersRCV004795439