ClinVar for MedGen (Select 501195) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075668	NM_000257.4(MYH7):c.2629A>T (p.Met877Leu)	LOC126861898, MYH7 (M877L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 3062303	NM_000257.4(MYH7):c.1370T>A (p.Ile457Lys)	MYH7 (I457K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 3018867	NM_033118.4(MYLK2):c.872T>C (p.Leu291Pro)	MYLK2 (L291P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 3016888	NM_033118.4(MYLK2):c.1710+20G>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 3013399	NM_033118.4(MYLK2):c.52+19A>G	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 3007322	NM_033118.4(MYLK2):c.381G>C (p.Arg127Ser)	MYLK2 (R127S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2995275	NM_033118.4(MYLK2):c.145A>C (p.Thr49Pro)	MYLK2 (T49P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2969408	NM_033118.4(MYLK2):c.205C>T (p.Pro69Ser)	MYLK2 (P69S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2964844	NM_033118.4(MYLK2):c.1367A>G (p.Tyr456Cys)	MYLK2 (Y456C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2917663	NM_033118.4(MYLK2):c.550A>G (p.Ser184Gly)	MYLK2 (S184G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2914425	NM_033118.4(MYLK2):c.52+19A>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2913903	NM_033118.4(MYLK2):c.1083-8G>A	MYLK2	Single nucleotide variant (intron variant)	MYLK2-related condition +1 more	GLikely benign
Select item 2912130	NM_033118.4(MYLK2):c.1518T>C (p.Phe506=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2903968	NM_033118.4(MYLK2):c.1296-13G>A	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2903748	NM_033118.4(MYLK2):c.94G>T (p.Ala32Ser)	MYLK2 (A32S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2858343	NM_033118.4(MYLK2):c.637GGCCAGGCT[1] (p.213GQA[1])	MYLK2	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2855060	NM_033118.4(MYLK2):c.1578-11C>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2852664	NM_033118.4(MYLK2):c.591G>T (p.Lys197Asn)	MYLK2 (K197N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2845327	NM_033118.4(MYLK2):c.773-15T>C	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2844676	NM_033118.4(MYLK2):c.1170C>T (p.Ile390=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2826051	NM_033118.4(MYLK2):c.240T>G (p.Gly80=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2823016	NM_033118.4(MYLK2):c.773-3C>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2819341	NM_033118.4(MYLK2):c.95C>T (p.Ala32Val)	MYLK2 (A32V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2814617	NM_033118.4(MYLK2):c.365A>T (p.Asp122Val)	MYLK2 (D122V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2809236	NM_033118.4(MYLK2):c.1765G>A (p.Gly589Arg)	MYLK2 (G589R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2808498	NM_033118.4(MYLK2):c.255del (p.Ala87fs)	MYLK2 (A87fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2805640	NM_033118.4(MYLK2):c.113C>A (p.Pro38His)	MYLK2 (P38H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2798472	NM_033118.4(MYLK2):c.1258C>T (p.His420Tyr)	MYLK2 (H420Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2797524	NM_033118.4(MYLK2):c.1690C>T (p.Leu564Phe)	MYLK2 (L564F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2793359	NM_033118.4(MYLK2):c.1295+12G>C	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2792084	NM_033118.4(MYLK2):c.1417T>C (p.Tyr473His)	MYLK2 (Y473H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2787577	NM_033118.4(MYLK2):c.576G>C (p.Lys192Asn)	MYLK2 (K192N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2783719	NM_033118.4(MYLK2):c.1496G>A (p.Trp499Ter)	MYLK2 (W499*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2770132	NM_033118.4(MYLK2):c.1309G>A (p.Glu437Lys)	MYLK2 (E437K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2767830	NM_033118.4(MYLK2):c.862A>G (p.Lys288Glu)	MYLK2 (K288E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2766416	NM_033118.4(MYLK2):c.827C>G (p.Thr276Ser)	MYLK2 (T276S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2765034	NM_033118.4(MYLK2):c.973-4C>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2763904	NM_033118.4(MYLK2):c.1438T>C (p.Ser480Pro)	MYLK2 (S480P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2762248	NM_033118.4(MYLK2):c.253G>A (p.Gly85Arg)	MYLK2 (G85R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2760981	NM_033118.4(MYLK2):c.162_163insT (p.Lys55Ter)	MYLK2 (K55*)	Insertion (nonsense)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2758406	NM_033118.4(MYLK2):c.52+8G>A	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2753953	NM_033118.4(MYLK2):c.1270A>T (p.Ile424Phe)	MYLK2 (I424F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2751604	NM_033118.4(MYLK2):c.1425-12C>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2751310	NM_033118.4(MYLK2):c.1076T>C (p.Met359Thr)	MYLK2 (M359T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2750570	NM_033118.4(MYLK2):c.110G>A (p.Gly37Asp)	MYLK2 (G37D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2746089	NM_033118.4(MYLK2):c.1148C>T (p.Thr383Ile)	MYLK2 (T383I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2738852	NM_033118.4(MYLK2):c.143C>T (p.Pro48Leu)	MYLK2 (P48L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2737813	NM_033118.4(MYLK2):c.1225-14C>A	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2737057	NM_033118.4(MYLK2):c.978G>A (p.Met326Ile)	MYLK2 (M326I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2733493	NM_033118.4(MYLK2):c.1771_*12del (p.Leu591_Ter597del)	MYLK2	Deletion (stop lost +1 more)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2731079	NM_033118.4(MYLK2):c.1424+19C>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2728340	NM_033118.4(MYLK2):c.572C>A (p.Ala191Asp)	MYLK2 (A191D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2727289	NM_033118.4(MYLK2):c.1710+20G>C	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2726041	NM_033118.4(MYLK2):c.866A>C (p.Glu289Ala)	MYLK2 (E289A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2696407	NM_033118.4(MYLK2):c.255G>T (p.Gly85=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2671917	NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)	MHRT, MYH7 (A1437P)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myosin storage, autosomal recessive +3 more	GLikely pathogenic
Select item 2671753	NM_033118.4(MYLK2):c.1420A>G (p.Met474Val)	MYLK2 (M474V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2664345	NM_000257.4(MYH7):c.587C>G (p.Ala196Gly)	MYH7 (A196G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2663795	NM_000257.4(MYH7):c.3223C>G (p.Gln1075Glu)	MYH7 (Q1075E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2628626	NM_033118.4(MYLK2):c.1432G>A (p.Gly478Ser)	MYLK2 (G478S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 2582517	NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)	MYH7 (E1772K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +4 more	GUncertain significance
Select item 2577034	NM_000257.4(MYH7):c.2282C>T (p.Thr761Ile)	MYH7 (T761I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 2576998	NM_020884.7(MYH7B):c.2700+2T>A	MYH7B	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 2576997	NM_000257.4(MYH7):c.2214C>A (p.Ser738Arg)	MYH7 (S738R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 2576996	NM_000257.4(MYH7):c.1583T>A (p.Met528Lys)	MYH7 (M528K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 2574111	NM_000257.4(MYH7):c.427C>G (p.Arg143Gly)	MYH7 (R143G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 2574110	NM_000257.4(MYH7):c.4178T>C (p.Leu1393Pro)	MYH7 (L1393P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 2504875	NM_033118.4(MYLK2):c.1301A>G (p.Asn434Ser)	MYLK2 (N434S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 2462164	NM_033118.4(MYLK2):c.927C>T (p.Leu309=)	MYLK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2450792	NM_033118.4(MYLK2):c.981G>C (p.Val327=)	MYLK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2444095	NM_000257.4(MYH7):c.2491A>G (p.Lys831Glu)	LOC126861898, MYH7 (K831E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2428674	NM_033118.4(MYLK2):c.1066G>A (p.Val356Ile)	MYLK2 (V356I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2423869	NM_033118.4(MYLK2):c.1710+18G>A	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2415498	NM_033118.4(MYLK2):c.1628_1641del (p.Leu543fs)	MYLK2 (L543fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2200756	NM_033118.4(MYLK2):c.674C>T (p.Ser225Leu)	MYLK2 (S225L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2200184	NM_033118.4(MYLK2):c.52+13G>C	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2199273	NM_033118.4(MYLK2):c.243C>G (p.Asp81Glu)	MYLK2 (D81E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2198459	NM_033118.4(MYLK2):c.75A>G (p.Thr25=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2198335	NM_033118.4(MYLK2):c.85C>A (p.Pro29Thr)	MYLK2 (P29T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2195602	NM_033118.4(MYLK2):c.1591G>A (p.Ala531Thr)	MYLK2 (A531T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2189980	NM_033118.4(MYLK2):c.1018C>A (p.Arg340Ser)	MYLK2 (R340S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 2185959	NM_033118.4(MYLK2):c.487C>T (p.Leu163=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2181658	NM_033118.4(MYLK2):c.1161C>G (p.Val387=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2178996	NM_033118.4(MYLK2):c.52+14G>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2171824	NM_033118.4(MYLK2):c.1080G>A (p.Glu360=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2170553	NM_033118.4(MYLK2):c.403G>C (p.Gly135Arg)	MYLK2 (G135R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2163233	NM_033118.4(MYLK2):c.1651A>G (p.Asn551Asp)	MYLK2 (N551D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2162243	NM_033118.4(MYLK2):c.711A>G (p.Lys237=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2161196	NM_033118.4(MYLK2):c.306G>A (p.Ala102=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2157857	NM_033118.4(MYLK2):c.473+11_473+12delinsAG	MYLK2	Indel (intron variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2157782	NM_033118.4(MYLK2):c.1425-10C>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2155933	NM_033118.4(MYLK2):c.99G>T (p.Gly33=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2155080	NM_033118.4(MYLK2):c.632C>A (p.Thr211Asn)	MYLK2 (T211N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2154328	NM_033118.4(MYLK2):c.1395G>A (p.Met465Ile)	MYLK2 (M465I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2152950	NM_033118.4(MYLK2):c.658A>G (p.Met220Val)	MYLK2 (M220V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2128290	NM_033118.4(MYLK2):c.573C>T (p.Ala191=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2117833	NM_033118.4(MYLK2):c.1538C>A (p.Ala513Asp)	MYLK2 (A513D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2114613	NM_033118.4(MYLK2):c.208T>A (p.Ser70Thr)	MYLK2 (S70T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2114047	NM_033118.4(MYLK2):c.1035G>C (p.Leu345=)	MYLK2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 2109790	NM_033118.4(MYLK2):c.1424+6C>G	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GUncertain significance

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