ClinVar for MedGen (Select 2881) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076034	NM_000256.3(MYBPC3):c.2367dup (p.Val790fs)	MYBPC3 (V790fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 3076026	NC_000011.10:g.47333753dup	MYBPC3	Duplication	Hypertrophic cardiomyopathy	GPathogenic
Select item 3075925	NM_000256.3(MYBPC3):c.140_141insC (p.Ser47_Asp48insTer)	MYBPC3	Insertion (frameshift variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 3075924	NM_000256.3(MYBPC3):c.139_140insTG (p.Ser47fs)	MYBPC3 (S47fs)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 3075779	NM_000256.3(MYBPC3):c.2050C>T (p.Gln684Ter)	MYBPC3 (Q684*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 3075659	NM_005159.5(ACTC1):c.78T>A (p.Asp26Glu)	GJD2-DT, ACTC1 (D26E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075658	NM_005159.5(ACTC1):c.198C>A (p.Ile66=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075657	NM_005159.5(ACTC1):c.330C>T (p.Ala110=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075656	NM_005159.5(ACTC1):c.444C>G (p.Gly148=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075654	NM_005159.5(ACTC1):c.592C>T (p.Arg198Cys)	ACTC1, GJD2-DT (R153C +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075653	NM_005159.5(ACTC1):c.714G>A (p.Leu238=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075652	NM_005159.5(ACTC1):c.816A>G (p.Glu272=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075563	NM_000432.4(MYL2):c.145C>G (p.Leu49Val)	MYL2 (L30V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075562	NM_000432.4(MYL2):c.240T>A (p.Thr80=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075558	NM_000256.3(MYBPC3):c.81C>G (p.Ala27=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075557	NM_000256.3(MYBPC3):c.186A>G (p.Thr62=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075556	NM_000256.3(MYBPC3):c.324T>G (p.Pro108=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075527	NM_016203.4(PRKAG2):c.1386dup (p.Val463fs)	PRKAG2 (V221fs +13 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075513	NM_000258.3(MYL3):c.2del (p.Met1fs)	MYL3 (M1fs)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075512	NM_000258.3(MYL3):c.177G>A (p.Met59Ile)	MYL3 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075511	NM_000258.3(MYL3):c.232G>A (p.Asp78Asn)	MYL3 (D20N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075510	NM_000258.3(MYL3):c.232G>T (p.Asp78Tyr)	MYL3 (D20Y +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075509	NM_000258.3(MYL3):c.241C>A (p.Arg81=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075508	NM_000258.3(MYL3):c.312C>T (p.Leu104=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075507	NM_000258.3(MYL3):c.541G>A (p.Gly181Ser)	MYL3 (G118S +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075506	NM_000258.3(MYL3):c.556G>A (p.Glu186Lys)	MYL3 (E123K +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075484	NM_016203.4(PRKAG2):c.140T>A (p.Leu47His)	PRKAG2 (L3H +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075450	NM_000363.5(TNNI3):c.25-14T>A	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075442	NM_000256.3(MYBPC3):c.2936T>C (p.Leu979Pro)	MYBPC3 (L979P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075428	NM_000256.3(MYBPC3):c.3526G>A (p.Asp1176Asn)	MYBPC3 (D1176N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075412	NM_000432.4(MYL2):c.381G>T (p.Ala127=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075404	NM_001018005.2(TPM1):c.804A>G (p.Lys268=)	TPM1	Single nucleotide variant (synonymous variant +3 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075381	NM_000256.3(MYBPC3):c.2372A>G (p.Gln791Arg)	MYBPC3 (Q791R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075376	NM_000256.3(MYBPC3):c.946C>T (p.Pro316Ser)	MYBPC3 (P316S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075371	NM_000256.3(MYBPC3):c.1632G>C (p.Lys544Asn)	MYBPC3 (K544N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075357	NM_016203.4(PRKAG2):c.1285G>C (p.Gly429Arg)	PRKAG2 (G187R +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075341	NM_000258.3(MYL3):c.50C>G (p.Pro17Arg)	MYL3 (P17R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075331	NM_000256.3(MYBPC3):c.688C>A (p.Gln230Lys)	MYBPC3 (Q230K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075329	NM_016203.4(PRKAG2):c.656C>T (p.Ser219Leu)	PRKAG2 (S113L +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075273	NM_000256.3(MYBPC3):c.3182A>C (p.Gln1061Pro)	MYBPC3 (Q1061P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075194	NM_000256.3(MYBPC3):c.223G>T (p.Asp75Tyr)	MYBPC3 (D75Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075164	NM_000256.3(MYBPC3):c.2812G>T (p.Ala938Ser)	MYBPC3 (A938S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075161	NM_000432.4(MYL2):c.354-7T>C	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075147	NM_000256.3(MYBPC3):c.1565C>A (p.Ala522Glu)	MYBPC3 (A522E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075124	NM_000256.3(MYBPC3):c.1928-27_1928-14del	MYBPC3	Deletion (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075120	NM_000256.3(MYBPC3):c.1485G>A (p.Arg495=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075100	NM_000432.4(MYL2):c.133G>C (p.Asp45His)	MYL2 (D26H +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075085	NM_016203.4(PRKAG2):c.1243A>G (p.Met415Val)	PRKAG2 (M173V +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075073	NM_000256.3(MYBPC3):c.1910A>C (p.Asp637Ala)	MYBPC3 (D637A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075044	NM_000256.3(MYBPC3):c.1618G>C (p.Val540Leu)	MYBPC3 (V540L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075032	NM_000256.3(MYBPC3):c.768C>T (p.Val256=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075016	NM_000256.3(MYBPC3):c.3532T>C (p.Ser1178Pro)	MYBPC3 (S1178P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075010	NM_001018005.2(TPM1):c.685T>C (p.Ser229Pro)	TPM1 (S193P +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074991	NM_000363.5(TNNI3):c.76dup (p.Tyr26fs)	TNNI3 (Y26fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074964	NM_000256.3(MYBPC3):c.817C>G (p.Arg273Gly)	MYBPC3 (R273G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074952	NM_000256.3(MYBPC3):c.3167C>G (p.Ala1056Gly)	MYBPC3 (A1056G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074948	NM_000256.3(MYBPC3):c.3574G>C (p.Val1192Leu)	MYBPC3 (V1192L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074932	NM_000258.3(MYL3):c.366C>T (p.Ser122=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074931	NM_001018005.2(TPM1):c.318G>A (p.Leu106=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074929	NM_016203.4(PRKAG2):c.126C>T (p.Ser42=)	PRKAG2	Single nucleotide variant (5 prime UTR variant +2 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074921	NM_001018005.2(TPM1):c.563+5G>A	TPM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074917	NM_000258.3(MYL3):c.318del (p.Lys107fs)	MYL3 (K107fs +1 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074880	NM_000256.3(MYBPC3):c.852-11C>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074870	NM_001018005.2(TPM1):c.574G>T (p.Glu192Ter)	TPM1 (E156* +2 more)	Single nucleotide variant (nonsense +2 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074858	NM_001018005.2(TPM1):c.835A>G (p.Asn279Asp)	TPM1 (N243D +2 more)	Single nucleotide variant (missense variant +3 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074835	NM_000432.4(MYL2):c.4-4C>T	LOC114827850, MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074824	NM_000256.3(MYBPC3):c.3778G>A (p.Gly1260Ser)	MYBPC3 (G1260S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074823	NM_000256.3(MYBPC3):c.3681C>T (p.Phe1227=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074820	NM_000256.3(MYBPC3):c.2239G>T (p.Gly747Cys)	MYBPC3 (G747C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074818	NM_000256.3(MYBPC3):c.65C>T (p.Ala22Val)	MYBPC3 (A22V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074766	NM_000256.3(MYBPC3):c.2718G>A (p.Val906=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074741	NM_016203.4(PRKAG2):c.242C>T (p.Pro81Leu)	PRKAG2 (P37L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074730	NM_016203.4(PRKAG2):c.1627G>T (p.Gly543Cys)	PRKAG2 (G301C +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074726	NM_000256.3(MYBPC3):c.1973C>T (p.Thr658Ile)	MYBPC3 (T658I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074715	NM_016203.4(PRKAG2):c.1188T>G (p.Leu396=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074695	NM_001018005.2(TPM1):c.105G>A (p.Arg35=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074667	NM_005159.5(ACTC1):c.614C>G (p.Thr205Ser)	ACTC1, GJD2-DT (T160S +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074646	NM_000256.3(MYBPC3):c.2934C>T (p.His978=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074587	NM_001018005.2(TPM1):c.849del (p.Ile284fs)	TPM1 (I248fs +5 more)	Deletion (frameshift variant +3 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074558	NM_016203.4(PRKAG2):c.653C>T (p.Ala218Val)	PRKAG2 (A112V +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074557	NM_000256.3(MYBPC3):c.1581G>A (p.Leu527=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074550	NM_000256.3(MYBPC3):c.184A>G (p.Thr62Ala)	MYBPC3 (T62A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074531	NM_001018005.2(TPM1):c.354G>A (p.Lys118=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074487	NM_016203.4(PRKAG2):c.369C>T (p.Phe123=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074486	NM_000256.3(MYBPC3):c.1799A>C (p.Lys600Thr)	MYBPC3 (K600T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074473	NM_000432.4(MYL2):c.4-15G>A	MYL2, LOC114827850	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074451	NM_000256.3(MYBPC3):c.1519G>T (p.Gly507Trp)	MYBPC3 (G507W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074430	NM_001018005.2(TPM1):c.608A>T (p.Asn203Ile)	TPM1 (N167I +2 more)	Single nucleotide variant (missense variant +2 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074429	NM_000258.3(MYL3):c.572A>G (p.His191Arg)	MYL3 (H128R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074421	NM_016203.4(PRKAG2):c.109A>C (p.Ile37Leu)	PRKAG2 (I37L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074408	NM_000363.5(TNNI3):c.272C>T (p.Ala91Val)	TNNI3 (A91V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074406	NM_016203.4(PRKAG2):c.1495C>G (p.Gln499Glu)	PRKAG2 (Q257E +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074376	NM_000363.5(TNNI3):c.25-1G>A	TNNI3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074369	NM_000256.3(MYBPC3):c.2502G>T (p.Arg834=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074347	NM_000256.3(MYBPC3):c.1004G>T (p.Arg335Leu)	MYBPC3 (R335L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074345	NM_000256.3(MYBPC3):c.3077C>T (p.Thr1026Ile)	MYBPC3 (T1026I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074322	NM_000256.3(MYBPC3):c.2420T>C (p.Ile807Thr)	MYBPC3 (I807T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074317	NM_000256.3(MYBPC3):c.1078A>G (p.Lys360Glu)	MYBPC3 (K360E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074310	NM_001018005.2(TPM1):c.36G>A (p.Lys12=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074283	NM_000258.3(MYL3):c.490C>T (p.Leu164=)	MYL3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign

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