ClinVar for MedGen (Select 199606) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25054631.	NM_000071.3(CBS):c.767G>T (p.Gly256Val) GRCh37: Chr21:44484071 GRCh38: Chr21:43063961	CBS	G151V, G256V	Classic homocystinuria	Likely pathogenic (Jun 5, 2023)	criteria provided, single submitter
Select item 25010292.	NM_000071.3(CBS):c.[233C>G;306G>C] GRCh37: Chr21:44488702 Chr21:44488629 GRCh38: Chr21:43068592 Chr21:43068519	CBS, CBS	P78R, K102N	not specified	Uncertain significance (Mar 15, 2023)	criteria provided, single submitter
Select item 24356313.	NM_000071.3(CBS):c.1227_1240del (p.Trp409fs) GRCh37: Chr21:44479062-44479075 GRCh38: Chr21:43058952-43058965	CBS	W304fs, W409fs	Classic homocystinuria	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 21526924.	NM_000071.3(CBS):c.949A>G (p.Arg317Gly) GRCh37: Chr21:44483068 GRCh38: Chr21:43062958	CBS	R317G, R212G	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Classic homocystinuria	Conflicting interpretations of pathogenicity (Jun 5, 2023)	criteria provided, conflicting interpretations
Select item 18057285.	NM_000071.3(CBS):c.209C>G (p.Pro70Arg) GRCh37: Chr21:44492095 GRCh38: Chr21:43071985	CBS	P70R	Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17266356.	NM_000071.3(CBS):c.503_504del (p.Val168fs) GRCh37: Chr21:44485753-44485754 GRCh38: Chr21:43065643-43065644	CBS	V168fs, V63fs	Classic homocystinuria	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 17262087.	NM_000071.3(CBS):c.218_230del (p.Ser73fs) GRCh37: Chr21:44488705-44488717 GRCh38: Chr21:43068595-43068607	CBS	S73fs	Classic homocystinuria	Likely pathogenic (May 24, 2022)	criteria provided, single submitter
Select item 17262048.	NM_000071.3(CBS):c.606dup (p.His203fs) GRCh37: Chr21:44485556-44485557 GRCh38: Chr21:43065446-43065447	CBS	H203fs, H98fs	Classic homocystinuria	Likely pathogenic (May 23, 2022)	criteria provided, single submitter
Select item 17259059.	NM_000071.3(CBS):c.95delinsATAAGAGACAGT (p.Ser32fs) GRCh37: Chr21:44492209 GRCh38: Chr21:43072099	CBS	S32fs	Classic homocystinuria	Likely pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 172515110.	NM_000071.3(CBS):c.1179del (p.Lys394fs) GRCh37: Chr21:44479380 GRCh38: Chr21:43059270	CBS	K289fs, K394fs	Classic homocystinuria	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 172445211.	NM_000071.3(CBS):c.1075A>T (p.Lys359Ter) GRCh37: Chr21:44480621 GRCh38: Chr21:43060511	CBS	K254, K359	Classic homocystinuria	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172412712.	NM_000071.3(CBS):c.588del (p.Arg196fs) GRCh37: Chr21:44485575 GRCh38: Chr21:43065465	CBS	R196fs, R91fs	Classic homocystinuria	Likely pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 172403913.	NM_000071.3(CBS):c.1288_1289del (p.Thr430fs) GRCh37: Chr21:44479013-44479014 GRCh38: Chr21:43058903-43058904	CBS	T325fs, T430fs	Classic homocystinuria	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 170543614.	NM_000071.3(CBS):c.754G>A (p.Val252Met) GRCh37: Chr21:44484084 GRCh38: Chr21:43063974	CBS	V147M, V252M	Classic homocystinuria	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 169884615.	NM_000071.3(CBS):c.667-14C>G GRCh37: Chr21:44485396 GRCh38: Chr21:43065286	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Classic homocystinuria	Conflicting interpretations of pathogenicity (May 31, 2022)	criteria provided, conflicting interpretations
Select item 132693216.	NM_000071.3(CBS):c.667-1G>C GRCh37: Chr21:44485383 GRCh38: Chr21:43065273	CBS		Classic homocystinuria	Pathogenic (Oct 14, 2021)	no assertion criteria provided
Select item 131037917.	NM_000071.3(CBS):c.676G>C (p.Ala226Pro) GRCh37: Chr21:44485373 GRCh38: Chr21:43065263	CBS	A121P, A226P	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Classic homocystinuria, not provided	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130139418.	NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) GRCh37: Chr21:44476966 GRCh38: Chr21:43056856	CBS	S395L, S500L	not specified, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Classic homocystinuria	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119594919.	NM_000071.3(CBS):c.1195G>A (p.Glu399Lys) GRCh37: Chr21:44479364 GRCh38: Chr21:43059254	CBS	E294K, E399K	Classic homocystinuria	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 118766920.	NM_000071.3(CBS):c.1642C>T (p.Arg548Trp) GRCh37: Chr21:44474004 GRCh38: Chr21:43053894	CBS	R443W, R548W	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116223321.	NM_000071.3(CBS):c.1341del (p.Val448fs) GRCh37: Chr21:44478961 GRCh38: Chr21:43058851	CBS	V343fs, V448fs	Classic homocystinuria	Likely pathogenic (Dec 4, 2019)	criteria provided, single submitter
Select item 116050822.	NM_000071.3(CBS):c.1290C>T (p.Thr430=) GRCh37: Chr21:44479012 GRCh38: Chr21:43058902	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Likely benign (Jun 9, 2020)	criteria provided, single submitter
Select item 112387023.	NM_000071.3(CBS):c.753G>T (p.Leu251=) GRCh37: Chr21:44484085 GRCh38: Chr21:43063975	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Classic homocystinuria	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 107633624.	NC_000021.8:g.(?_44478245)_(44485815_?)del GRCh37: Chr21:44478245-44485815	CBS		Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 107319125.	NM_000071.3(CBS):c.1397C>A (p.Ser466Ter) GRCh37: Chr21:44478325 GRCh38: Chr21:43058215	CBS	S361, S466	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 105726826.	NM_000071.3(CBS):c.381T>G (p.Ile127Met) GRCh37: Chr21:44486423 GRCh38: Chr21:43066313	CBS	I127M, I22M	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 105295327.	NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) GRCh37: Chr21:44482453 GRCh38: Chr21:43062343	CBS	R231P, R336P	Familial thoracic aortic aneurysm and aortic dissection, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Likely pathogenic (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104107328.	NM_000071.3(CBS):c.359A>G (p.Asp120Gly) GRCh37: Chr21:44486445 GRCh38: Chr21:43066335	CBS	D120G, D15G	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 103546029.	NM_000071.3(CBS):c.671G>T (p.Arg224Leu) GRCh37: Chr21:44485378 GRCh38: Chr21:43065268	CBS	R119L, R224L	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Classic homocystinuria	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101825430.	NM_000071.3(CBS):c.179C>T (p.Ala60Val) GRCh37: Chr21:44492125 GRCh38: Chr21:43072015	CBS	A60V	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 99404931.	NM_000071.3(CBS):c.170G>A (p.Gly57Asp) GRCh37: Chr21:44492134 GRCh38: Chr21:43072024	CBS	G57D	not provided	Uncertain significance (Jan 16, 2020)	criteria provided, single submitter
Select item 98962632.	NM_000071.3(CBS):c.741G>C (p.Lys247Asn) GRCh37: Chr21:44484097 GRCh38: Chr21:43063987	CBS	K142N, K247N	Classic homocystinuria	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 98962533.	NM_000071.3(CBS):c.763G>C (p.Val255Leu) GRCh37: Chr21:44484075 GRCh38: Chr21:43063965	CBS	V150L, V255L	Classic homocystinuria	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 98962434.	NM_000071.3(CBS):c.1071C>T (p.Ala357=) GRCh37: Chr21:44480625 GRCh38: Chr21:43060515	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98962335.	NM_000071.3(CBS):c.1281G>A (p.Pro427=) GRCh37: Chr21:44479021 GRCh38: Chr21:43058911	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, not provided	Likely benign (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98962236.	NM_000071.3(CBS):c.1478C>T (p.Thr493Met) GRCh37: Chr21:44476987 GRCh38: Chr21:43056877	CBS	T388M, T493M	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 98401937.	NM_000071.3(CBS):c.430G>T (p.Glu144Ter) GRCh37: Chr21:44486374 GRCh38: Chr21:43066264	CBS	E144, E39	Classic homocystinuria	Likely pathogenic (Mar 30, 2019)	criteria provided, single submitter
Select item 98401838.	NM_000071.3(CBS):c.529A>T (p.Lys177Ter) GRCh37: Chr21:44485728 GRCh38: Chr21:43065618	CBS	K177, K72	Classic homocystinuria	Likely pathogenic (Oct 26, 2019)	criteria provided, single submitter
Select item 98401739.	NM_000071.3(CBS):c.637G>T (p.Glu213Ter) GRCh37: Chr21:44485526 GRCh38: Chr21:43065416	CBS	E108, E213	Classic homocystinuria	Likely pathogenic (Dec 19, 2019)	criteria provided, single submitter
Select item 98401640.	NM_000071.3(CBS):c.715G>T (p.Glu239Ter) GRCh37: Chr21:44485334 GRCh38: Chr21:43065224	CBS	E134, E239	Classic homocystinuria	Likely pathogenic (Aug 9, 2019)	criteria provided, single submitter
Select item 98401541.	NM_000071.3(CBS):c.1210G>T (p.Glu404Ter) GRCh37: Chr21:44479349 GRCh38: Chr21:43059239	CBS	E299, E404	Classic homocystinuria	Likely pathogenic (Mar 30, 2019)	criteria provided, single submitter
Select item 97877142.	NM_000071.3(CBS):c.941T>C (p.Val314Ala) GRCh37: Chr21:44483076 GRCh38: Chr21:43062966	CBS	V209A, V314A	Classic homocystinuria	Pathogenic	no assertion criteria provided
Select item 96777743.	NM_000071.3(CBS):c.632A>G (p.Lys211Arg) GRCh37: Chr21:44485531 GRCh38: Chr21:43065421	CBS	K211R, K106R	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95576244.	NM_000071.3(CBS):c.1580G>A (p.Arg527Gln) GRCh37: Chr21:44474066 GRCh38: Chr21:43053956	CBS	R422Q, R527Q	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 95241045.	NM_000071.3(CBS):c.429C>G (p.Ile143Met) GRCh37: Chr21:44486375 GRCh38: Chr21:43066265	CBS	I38M, I143M	Classic homocystinuria, not provided, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Pathogenic/Likely pathogenic (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94582146.	NM_000071.3(CBS):c.1467+4C>T GRCh37: Chr21:44478251 GRCh38: Chr21:43058141	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 93681447.	NM_000071.3(CBS):c.862G>T (p.Ala288Ser) GRCh37: Chr21:44483155 GRCh38: Chr21:43063045	CBS	A288S, A183S	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 91781648.	NM_000071.3(CBS):c.684C>A (p.Asn228Lys) GRCh37: Chr21:44485365 GRCh38: Chr21:43065255	CBS	N123K, N228K	Homocystinuria	Pathogenic (Jun 21, 2023)	criteria provided, single submitter
Select item 89866449.	NM_000071.3(CBS):c.*80C>T GRCh37: Chr21:44473910 GRCh38: Chr21:43053800	CBS		Classic homocystinuria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89757250.	NM_000071.3(CBS):c.887C>G (p.Thr296Arg) GRCh37: Chr21:44483130 GRCh38: Chr21:43063020	CBS	T191R, T296R	Familial thoracic aortic aneurysm and aortic dissection, Classic homocystinuria	Uncertain significance (May 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89757151.	NM_000071.3(CBS):c.1017C>T (p.Ile339=) GRCh37: Chr21:44482443 GRCh38: Chr21:43062333	CBS		Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 89750852.	NM_000071.3(CBS):c.*132G>C GRCh37: Chr21:44473858 GRCh38: Chr21:43053748	CBS		Classic homocystinuria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89750753.	NM_000071.3(CBS):c.*140G>A GRCh37: Chr21:44473850 GRCh38: Chr21:43053740	CBS		Classic homocystinuria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89750654.	NM_000071.3(CBS):c.*286A>G GRCh37: Chr21:44473704 GRCh38: Chr21:43053594	CBS		Classic homocystinuria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89750555.	NM_000071.3(CBS):c.*296T>C GRCh37: Chr21:44473694 GRCh38: Chr21:43053584	CBS		Classic homocystinuria	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89750456.	NM_000071.3(CBS):c.*305T>C GRCh37: Chr21:44473685 GRCh38: Chr21:43053575	CBS		Classic homocystinuria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89709657.	NM_000071.3(CBS):c.1146-6C>T GRCh37: Chr21:44479419 GRCh38: Chr21:43059309	CBS		Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Conflicting interpretations of pathogenicity (Mar 22, 2021)	criteria provided, conflicting interpretations
Select item 89703058.	NM_000071.3(CBS):c.*394C>T GRCh37: Chr21:44473596 GRCh38: Chr21:43053486	CBS		Classic homocystinuria	Uncertain significance (Apr 6, 2018)	criteria provided, single submitter
Select item 89702959.	NM_000071.3(CBS):c.*409G>A GRCh37: Chr21:44473581 GRCh38: Chr21:43053471	CBS		Classic homocystinuria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89702860.	NM_000071.3(CBS):c.*409G>T GRCh37: Chr21:44473581 GRCh38: Chr21:43053471	CBS		Classic homocystinuria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89604461.	NM_000071.2(CBS):c.-242T>C GRCh37: Chr21:44496037 GRCh38: Chr21:43075927	CBS		Classic homocystinuria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89604362.	NM_000071.3(CBS):c.-81C>T GRCh37: Chr21:44493448 GRCh38: Chr21:43073338	CBS		Classic homocystinuria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89575763.	NM_000071.3(CBS):c.349A>T (p.Ser117Cys) GRCh37: Chr21:44486455 GRCh38: Chr21:43066345	CBS	S12C, S117C	Classic homocystinuria	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89562064.	NM_000071.3(CBS):c.*681A>G GRCh37: Chr21:44473309 GRCh38: Chr21:43053199	CBS		not provided, Classic homocystinuria	Benign/Likely benign (May 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87147665.	NM_000071.3(CBS):c.71C>T (p.Ala24Val) GRCh37: Chr21:44492233 GRCh38: Chr21:43072123	CBS	A24V	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, not provided, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86369466.	NM_000071.3(CBS):c.451G>A (p.Gly151Arg) GRCh37: Chr21:44486353 GRCh38: Chr21:43066243	CBS	G151R, G46R	Homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85189067.	NM_000071.3(CBS):c.921C>G (p.Gly307=) GRCh37: Chr21:44483096 GRCh38: Chr21:43062986	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 84374068.	NM_000071.3(CBS):c.954G>A (p.Thr318=) GRCh37: Chr21:44483063 GRCh38: Chr21:43062953	CBS		not provided, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 84335869.	NM_000071.3(CBS):c.1468-6T>G GRCh37: Chr21:44477003 GRCh38: Chr21:43056893	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 84213070.	NM_000071.3(CBS):c.1019C>T (p.Ala340Val) GRCh37: Chr21:44482441 GRCh38: Chr21:43062331	CBS	A235V, A340V	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, not provided	Uncertain significance (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 83269071.	NC_000021.9:g.(?_43053340)_(43076866_?)dup GRCh37: Chr21:44473450-44496976	CBS		Classic homocystinuria	Uncertain significance (Dec 23, 2019)	criteria provided, single submitter
Select item 83133272.	NC_000021.9:g.(?_43060421)_(43062415_?)dup GRCh37: Chr21:44480531-44482525	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Classic homocystinuria	Pathogenic/Likely pathogenic (Aug 29, 2022)	criteria provided, single submitter
Select item 81350273.	NM_000071.3(CBS):c.1152G>C (p.Lys384Asn) GRCh37: Chr21:44479407 GRCh38: Chr21:43059297	CBS	K279N, K384N	Classic homocystinuria, not provided	Pathogenic (May 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 76448674.	NM_000071.3(CBS):c.1089G>A (p.Glu363=) GRCh37: Chr21:44480607 GRCh38: Chr21:43060497	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Likely benign (Sep 29, 2021)	criteria provided, single submitter
Select item 73100675.	NM_000071.3(CBS):c.1356G>A (p.Ala452=) GRCh37: Chr21:44478946 GRCh38: Chr21:43058836	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72493976.	NM_000071.3(CBS):c.1512G>A (p.Glu504=) GRCh37: Chr21:44476953 GRCh38: Chr21:43056843	CBS		Familial thoracic aortic aneurysm and aortic dissection, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70363577.	NM_000071.3(CBS):c.687C>T (p.Pro229=) GRCh37: Chr21:44485362 GRCh38: Chr21:43065252	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 70249378.	NM_000071.3(CBS):c.829-8C>G GRCh37: Chr21:44483196 GRCh38: Chr21:43063086	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 70163879.	NM_000071.3(CBS):c.747C>T (p.Asp249=) GRCh37: Chr21:44484091 GRCh38: Chr21:43063981	CBS		Classic homocystinuria	Likely benign (Dec 5, 2018)	criteria provided, single submitter
Select item 68247380.	NM_000071.3(CBS):c.1074G>A (p.Val358=) GRCh37: Chr21:44480622 GRCh38: Chr21:43060512	CBS		HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, not provided	Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68228081.	NM_000071.3(CBS):c.151A>C (p.Arg51=) GRCh37: Chr21:44492153 GRCh38: Chr21:43072043	CBS		not provided, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 67579482.	NM_000071.3(CBS):c.316+130G>A GRCh37: Chr21:44488489 GRCh38: Chr21:43068379	CBS		not provided, Classic homocystinuria	Benign (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67223583.	NM_000071.3(CBS):c.1552+154T>C GRCh37: Chr21:44476759 GRCh38: Chr21:43056649	CBS		Classic homocystinuria, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66394984.	NC_000021.8:g.(?_44473450)_(44492323_?)dup GRCh37: Chr21:44473450-44492323 GRCh38: Chr21:43053340-43072213	CBS		Classic homocystinuria	Uncertain significance (Oct 30, 2019)	criteria provided, single submitter
Select item 66161985.	NM_000071.3(CBS):c.1564G>A (p.Gly522Arg) GRCh37: Chr21:44474082 GRCh38: Chr21:43053972	CBS	G417R, G522R	Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Apr 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65700286.	NM_000071.3(CBS):c.545G>A (p.Arg182Gln) GRCh37: Chr21:44485618 GRCh38: Chr21:43065508	CBS	R182Q, R77Q	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 65672387.	NM_000071.3(CBS):c.825C>T (p.Cys275=) GRCh37: Chr21:44484013 GRCh38: Chr21:43063903	CBS		not specified, Familial thoracic aortic aneurysm and aortic dissection, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Likely benign (Jul 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65662488.	NM_000071.3(CBS):c.791T>C (p.Ile264Thr) GRCh37: Chr21:44484047 GRCh38: Chr21:43063937	CBS	I264T, I159T	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Classic homocystinuria, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64751689.	NM_000071.3(CBS):c.925G>A (p.Asp309Asn) GRCh37: Chr21:44483092 GRCh38: Chr21:43062982	CBS	D309N, D204N	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 64734590.	NM_000071.3(CBS):c.1126G>A (p.Asp376Asn) GRCh37: Chr21:44480570 GRCh38: Chr21:43060460	CBS	D376N, D271N	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Classic homocystinuria	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64687391.	NM_000071.3(CBS):c.1315C>T (p.Arg439Trp) GRCh37: Chr21:44478987 GRCh38: Chr21:43058877	CBS	R439W, R334W	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Classic homocystinuria, not provided	Uncertain significance (Sep 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64451692.	NM_000071.3(CBS):c.68C>T (p.Ser23Leu) GRCh37: Chr21:44492236 GRCh38: Chr21:43072126	CBS	S23L	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, not provided, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Feb 20, 2023)	criteria provided, conflicting interpretations
Select item 64369593.	NM_000071.3(CBS):c.538G>A (p.Val180Met) GRCh37: Chr21:44485625 GRCh38: Chr21:43065515	CBS	V180M, V75M	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64328494.	NM_000071.3(CBS):c.1114G>A (p.Val372Ile) GRCh37: Chr21:44480582 GRCh38: Chr21:43060472	CBS	V372I, V267I	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Connective tissue disorder	Uncertain significance (Feb 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64272895.	NM_000071.3(CBS):c.422C>T (p.Thr141Met) GRCh37: Chr21:44486382 GRCh38: Chr21:43066272	CBS	T141M, T36M	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 64259096.	NM_000071.3(CBS):c.599C>T (p.Pro200Leu) GRCh37: Chr21:44485564 GRCh38: Chr21:43065454	CBS	P95L, P200L	Classic homocystinuria, Familial thoracic aortic aneurysm and aortic dissection, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Apr 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64113997.	NM_000071.3(CBS):c.313C>G (p.Leu105Val) GRCh37: Chr21:44488622 GRCh38: Chr21:43068512	CBS	L105V	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 63966498.	NM_000071.3(CBS):c.1237C>T (p.Arg413Cys) GRCh37: Chr21:44479065 GRCh38: Chr21:43058955	CBS	R308C, R413C	Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63314499.	NM_000071.3(CBS):c.526G>A (p.Glu176Lys) GRCh37: Chr21:44485731 GRCh38: Chr21:43065621	CBS	E176K, E71K	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Homocystinuria	Pathogenic (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 632738100.	NM_000071.3(CBS):c.209+1G>A GRCh37: Chr21:44492094 GRCh38: Chr21:43071984	CBS		Homocystinuria, not provided, Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Pathogenic (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts

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