ClinVar for MedGen (Select 442484) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366965	NM_002471.4(MYH6):c.5164-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1EE +2 more	GLikely pathogenic
Select item 3342299	NM_002471.4(MYH6):c.1463A>G (p.Gln488Arg)	MYH6 (Q488R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3342285	NM_002471.4(MYH6):c.5645G>T (p.Arg1882Leu)	MYH6 (R1882L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3341388	NM_002471.4(MYH6):c.2334G>C (p.Met778Ile)	MYH6 (M778I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3244007	NC_000014.8:g.(?_23855504)_(23876432_?)dup	MIR208A, MYH6	Duplication	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3244006	NC_000014.8:g.(?_23866732)_(23866842_?)del	MYH6	Deletion	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3075675	NM_002471.4(MYH6):c.2960T>C (p.Leu987Pro)	MYH6 (L987P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3019694	NM_002471.4(MYH6):c.4455G>T (p.Lys1485Asn)	MYH6 (K1485N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3018734	NM_002471.4(MYH6):c.4094A>G (p.Lys1365Arg)	MYH6 (K1365R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3018176	NM_002471.4(MYH6):c.806del (p.Leu269fs)	MYH6 (L269fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3007196	NM_002471.4(MYH6):c.3078G>T (p.Lys1026Asn)	MYH6 (K1026N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2999235	NM_002471.4(MYH6):c.4359+13C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2987129	NM_002471.4(MYH6):c.2929-30_2929-19del	MYH6	Deletion (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2986839	NM_002471.4(MYH6):c.4175+18C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2984307	NM_002471.4(MYH6):c.3979-15C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2975231	NM_002471.4(MYH6):c.3009G>C (p.Glu1003Asp)	MYH6 (E1003D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2973255	NM_002471.4(MYH6):c.5343G>A (p.Leu1781=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2970733	NM_002471.4(MYH6):c.327C>T (p.Tyr109=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2969671	NM_002471.4(MYH6):c.5654A>G (p.Glu1885Gly)	MYH6 (E1885G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2963483	NM_002471.4(MYH6):c.373G>C (p.Val125Leu)	LOC114827851, MYH6 (V125L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2954947	NM_002471.4(MYH6):c.2411A>G (p.Lys804Arg)	MYH6 (K804R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2913874	NM_002471.4(MYH6):c.531G>A (p.Thr177=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2911473	NM_002471.4(MYH6):c.644G>T (p.Gly215Val)	MYH6 (G215V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2910556	NM_002471.4(MYH6):c.502+1G>C	LOC114827851, MYH6	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2908497	NM_002471.4(MYH6):c.5130G>T (p.Glu1710Asp)	LOC126861896, MYH6 (E1710D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2904393	NM_002471.4(MYH6):c.50G>A (p.Arg17His)	LOC114827851, MYH6 (R17H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2903165	NM_002471.4(MYH6):c.4359+13_4359+14delinsTA	MYH6	Indel (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2902185	NM_002471.4(MYH6):c.1880C>A (p.Thr627Asn)	MYH6 (T627N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2900909	NM_002471.4(MYH6):c.3064C>T (p.Leu1022=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2900474	NM_002471.4(MYH6):c.1142-3C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2900324	NM_002471.4(MYH6):c.2800A>G (p.Met934Val)	MYH6 (M934V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2899338	NM_002471.4(MYH6):c.3859+3G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2893085	NM_002471.4(MYH6):c.1002+20C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2892810	NM_002471.4(MYH6):c.1066G>T (p.Ala356Ser)	MYH6 (A356S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2889927	NM_002471.4(MYH6):c.1047C>G (p.Gly349=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2887630	NM_002471.4(MYH6):c.899-16C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2887064	NM_002471.4(MYH6):c.2947G>A (p.Glu983Lys)	MYH6 (E983K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2886423	NM_002471.4(MYH6):c.2293-8G>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2884786	NM_002471.4(MYH6):c.678C>A (p.Pro226=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2884414	NM_002471.4(MYH6):c.4820C>T (p.Thr1607Ile)	LOC126861896, MYH6 (T1607I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2884148	NM_002471.4(MYH6):c.3063C>T (p.Ser1021=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2882998	NM_002471.4(MYH6):c.994G>A (p.Ala332Thr)	MYH6 (A332T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2882745	NM_002471.4(MYH6):c.4788G>A (p.Val1596=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2881671	NM_002471.4(MYH6):c.1410+5G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2880050	NM_002471.4(MYH6):c.639C>T (p.Asn213=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2879489	NM_002471.4(MYH6):c.3135G>A (p.Lys1045=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2879162	NM_002471.4(MYH6):c.2961G>T (p.Leu987=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2878796	NM_002471.4(MYH6):c.1070T>C (p.Ile357Thr)	MYH6 (I357T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2877187	NM_002471.4(MYH6):c.1649dup (p.Ala551fs)	MYH6 (A551fs)	Duplication (frameshift variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2873916	NM_002471.4(MYH6):c.1963-20_1963-13del	MYH6	Deletion (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2873297	NM_002471.4(MYH6):c.2168G>A (p.Arg723Lys)	MYH6 (R723K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2870457	NM_002471.4(MYH6):c.502+14C>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GBenign
Select item 2868513	NM_002471.4(MYH6):c.800-18C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2850776	NM_002471.4(MYH6):c.5797-18C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2850598	NM_002471.4(MYH6):c.900C>T (p.Asp300=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2849752	NM_002471.4(MYH6):c.3979-20G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2849575	NM_002471.4(MYH6):c.222C>G (p.Asp74Glu)	LOC114827851, MYH6 (D74E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2848457	NM_002471.4(MYH6):c.1663_1665del (p.Asp555del)	MYH6 (D555del)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2844017	NM_002471.4(MYH6):c.4804T>G (p.Ser1602Ala)	LOC126861896, MYH6 (S1602A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2842832	NM_002471.4(MYH6):c.1434C>G (p.Cys478Trp)	MYH6 (C478W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2841811	NM_002471.4(MYH6):c.3653A>C (p.Lys1218Thr)	MYH6 (K1218T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2840623	NM_002471.4(MYH6):c.3978+13G>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2838679	NM_002471.4(MYH6):c.503-10_503-8del	LOC114827851, MYH6	Deletion (intron variant)	Hypertrophic cardiomyopathy 14	GBenign
Select item 2836403	NM_002471.4(MYH6):c.202-11G>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2836058	NM_002471.4(MYH6):c.2542G>A (p.Glu848Lys)	MYH6 (E848K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2833973	NM_002471.4(MYH6):c.2050+14_2050+16del	MYH6	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2831185	NM_002471.4(MYH6):c.1892-11T>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2828618	NM_002471.4(MYH6):c.1411-4G>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2826038	NM_002471.4(MYH6):c.1141+2T>G	MYH6	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2825682	NM_002471.4(MYH6):c.1640T>C (p.Met547Thr)	MYH6 (M547T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2825309	NM_002471.4(MYH6):c.4405C>A (p.Leu1469Met)	MYH6 (L1469M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2824270	NM_002471.4(MYH6):c.1075C>T (p.His359Tyr)	MYH6 (H359Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2818223	NM_002471.4(MYH6):c.1963-16C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2817839	NM_002471.4(MYH6):c.4034T>C (p.Leu1345Pro)	MYH6 (L1345P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GPathogenic
Select item 2817675	NM_002471.4(MYH6):c.5805G>A (p.Met1935Ile)	MYH6 (M1935I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2817133	NM_002471.4(MYH6):c.1999A>G (p.Thr667Ala)	MYH6 (T667A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2816579	NM_002471.4(MYH6):c.5674A>T (p.Asn1892Tyr)	MYH6 (N1892Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2815833	NM_002471.4(MYH6):c.3060C>T (p.Asn1020=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2810762	NM_002471.4(MYH6):c.4175+15C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2810693	NM_002471.4(MYH6):c.3907C>T (p.Leu1303=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2808648	NM_002471.4(MYH6):c.5164-12C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2808086	NM_002471.4(MYH6):c.4206C>G (p.Ala1402=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2804454	NM_002471.4(MYH6):c.4959+20C>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2804038	NM_002471.4(MYH6):c.5566-6C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2802921	NM_002471.4(MYH6):c.4404G>C (p.Glu1468Asp)	MYH6 (E1468D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2801831	NM_002471.4(MYH6):c.3550A>G (p.Thr1184Ala)	MYH6 (T1184A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2801153	NM_002471.4(MYH6):c.3979-13C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2800409	NM_002471.4(MYH6):c.3953_3978+2dup	MYH6	Duplication (splice donor variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2796488	NM_002471.4(MYH6):c.2928+8C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2794514	NM_002471.4(MYH6):c.1513G>C (p.Glu505Gln)	MYH6 (E505Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2793989	NM_002471.4(MYH6):c.3859+12del	MYH6	Deletion (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2789688	NM_002471.4(MYH6):c.3147C>G (p.Asp1049Glu)	MYH6 (D1049E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 2785487	NM_002471.4(MYH6):c.4226T>C (p.Val1409Ala)	MYH6 (V1409A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2785243	NM_002471.4(MYH6):c.4526-15C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2785124	NM_002471.4(MYH6):c.2361C>G (p.Ile787Met)	MYH6 (I787M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2778751	NM_002471.4(MYH6):c.5501G>T (p.Arg1834Leu)	MYH6 (R1834L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2777568	NM_002471.4(MYH6):c.1606G>C (p.Glu536Gln)	MYH6 (E536Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 2767228	NM_002471.4(MYH6):c.1963-10C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2766529	NM_002471.4(MYH6):c.2051-13C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2765466	NM_002471.4(MYH6):c.3979-7_3979-6insGC	MYH6	Insertion (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign

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