ClinVar for MedGen (Select 183649) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247717	NC_000001.10:g.(?_236849974)_(237205889_?)dup	ACTN2, MT1HL1 +2 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 3244598	NC_000011.9:g.(?_6625502)_(6631842_?)dup	ILK	Duplication	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 3236837	NM_004006.3:c.(6438+1_6439-1)_(7542+1_7543-1)del	DMD	Deletion	Primary familial hypertrophic cardiomyopathy	GPathogenic
Select item 3236462	NM_032588.4(TRIM63):c.265G>A (p.Val89Met)	TRIM63 (V89M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 3021508	NM_004517.4(ILK):c.838G>A (p.Val280Ile)	ILK, TAF10 (V219I +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 3006070	NM_004517.4(ILK):c.978+3G>A	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2981798	NM_004517.4(ILK):c.489A>G (p.Pro163=)	ILK, TAF10 (H131R)	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2970852	NM_004517.4(ILK):c.1169T>C (p.Val390Ala)	ILK, TAF10 (V256A +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2958250	NM_004517.4(ILK):c.1123A>C (p.Met375Leu)	ILK, TAF10 (M314L +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2954474	NM_001103.4(ACTN2):c.1607T>C (p.Met536Thr)	ACTN2 (M328T +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2954244	NM_001103.4(ACTN2):c.2302-9T>C	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2954146	NM_001103.4(ACTN2):c.2368-3C>A	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2953984	NM_001103.4(ACTN2):c.1609G>T (p.Glu537Ter)	ACTN2 (E329* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2953889	NM_001103.4(ACTN2):c.1834G>A (p.Asp612Asn)	ACTN2 (D362N +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2952808	NM_001103.4(ACTN2):c.876+11C>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2952074	NM_003673.4(TCAP):c.265C>A (p.Leu89Met)	TCAP (L89M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2951798	NM_001103.4(ACTN2):c.876+14_876+21dup	ACTN2	Duplication (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2951714	NM_001103.4(ACTN2):c.2352C>T (p.Ser784=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2951699	NM_001103.4(ACTN2):c.362-5T>C	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2951495	NM_001103.4(ACTN2):c.764C>T (p.Ala255Val)	ACTN2 (A10V +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2951406	NM_001103.4(ACTN2):c.537-11C>G	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2951357	NM_001103.4(ACTN2):c.1198G>A (p.Glu400Lys)	ACTN2 (E150K +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2951019	NM_001103.4(ACTN2):c.569T>G (p.Ile190Ser)	ACTN2 (I190S)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950916	NM_001103.4(ACTN2):c.2301G>C (p.Arg767Ser)	ACTN2 (R559S +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950759	NM_001103.4(ACTN2):c.1735C>T (p.Gln579Ter)	ACTN2 (Q371* +2 more)	Single nucleotide variant (nonsense +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950752	NM_001103.4(ACTN2):c.1989C>G (p.Ser663Arg)	ACTN2 (S663R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950387	NM_001103.4(ACTN2):c.1107+5G>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950213	NM_001103.4(ACTN2):c.1421A>G (p.His474Arg)	ACTN2 (H266R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950061	NM_001103.4(ACTN2):c.303C>A (p.Asn101Lys)	ACTN2 (N101K)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2949730	NM_001103.4(ACTN2):c.2170T>C (p.Trp724Arg)	ACTN2 (W516R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2949660	NM_001103.4(ACTN2):c.1841T>C (p.Val614Ala)	ACTN2 (V406A +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 2949521	NM_001103.4(ACTN2):c.2488C>A (p.Gln830Lys)	ACTN2 (Q580K +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2949347	NM_001103.4(ACTN2):c.1656+3A>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2949307	NM_001103.4(ACTN2):c.536+17C>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2949182	NM_001103.4(ACTN2):c.537-6G>A	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2948609	NM_001103.4(ACTN2):c.242-9A>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2948421	NM_001103.4(ACTN2):c.1407-15T>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2948185	NM_001103.4(ACTN2):c.49dup (p.Asp17fs)	ACTN2 (D17fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2948047	NM_003673.4(TCAP):c.50_51dup (p.Arg18fs)	TCAP (R18fs)	Microsatellite (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 2947864	NM_001103.4(ACTN2):c.143_144del (p.Trp47_Cys48insTer)	ACTN2	Microsatellite (nonsense +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2947863	NM_001103.4(ACTN2):c.778G>T (p.Glu260Ter)	ACTN2 (E15* +1 more)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2947844	NM_001103.4(ACTN2):c.784-524del	ACTN2	Deletion (frameshift variant +2 more)	Dilated cardiomyopathy 1AA +1 more	GBenign
Select item 2947723	NM_001103.4(ACTN2):c.2463G>A (p.Glu821=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2947461	NM_001103.4(ACTN2):c.1836C>T (p.Asp612=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2947295	NM_001103.4(ACTN2):c.2223G>C (p.Gln741His)	ACTN2 (Q741H +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2947252	NM_001103.4(ACTN2):c.646A>T (p.Met216Leu)	ACTN2 (M216L)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2947226	NM_001103.4(ACTN2):c.1974G>A (p.Glu658=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2947032	NM_001103.4(ACTN2):c.2133G>C (p.Lys711Asn)	ACTN2 (K711N +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2946780	NM_001103.4(ACTN2):c.2154+16A>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2946732	NM_001103.4(ACTN2):c.1304C>T (p.Thr435Ile)	ACTN2 (T227I +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2946553	NM_001103.4(ACTN2):c.103G>A (p.Ala35Thr)	ACTN2 (A35T)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2946520	NM_003673.4(TCAP):c.211A>G (p.Met71Val)	TCAP (M71V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 2946257	NM_001103.4(ACTN2):c.1602C>T (p.Gly534=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 2946048	NM_001103.4(ACTN2):c.1630A>G (p.Ile544Val)	ACTN2 (I294V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 2945957	NM_001103.4(ACTN2):c.1826C>T (p.Thr609Ile)	ACTN2 (T401I +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2945884	NM_001103.4(ACTN2):c.1757T>C (p.Ile586Thr)	ACTN2 (I378T +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2945805	NM_001103.4(ACTN2):c.1839+18T>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2944747	NM_001103.4(ACTN2):c.2336G>C (p.Arg779Thr)	ACTN2 (R529T +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2944434	NM_001103.4(ACTN2):c.425C>T (p.Ala142Val)	ACTN2 (A142V)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 2944339	NM_001103.4(ACTN2):c.1901C>T (p.Ala634Val)	ACTN2 (A384V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2944150	NM_001103.4(ACTN2):c.1651A>G (p.Ile551Val)	ACTN2 (I301V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2943968	NM_001103.4(ACTN2):c.959T>C (p.Leu320Pro)	ACTN2 (L320P +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2943841	NM_001103.4(ACTN2):c.783+18G>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2943445	NM_001103.4(ACTN2):c.935C>T (p.Thr312Ile)	ACTN2 (T104I +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2943101	NM_001103.4(ACTN2):c.320T>C (p.Ile107Thr)	ACTN2 (I107T)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2942871	NM_001103.4(ACTN2):c.329A>T (p.Lys110Ile)	ACTN2 (K110I)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2942869	NM_001103.4(ACTN2):c.876+1G>A	ACTN2	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2942385	NM_001103.4(ACTN2):c.297T>G (p.Asn99Lys)	ACTN2 (N99K)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2942299	NM_003673.4(TCAP):c.165G>C (p.Gly55=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2942261	NM_001103.4(ACTN2):c.1686G>C (p.Lys562Asn)	ACTN2 (K354N +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2941969	NM_001103.4(ACTN2):c.6C>G (p.Asn2Lys)	ACTN2 (N2K)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2941860	NM_001103.4(ACTN2):c.2462A>G (p.Glu821Gly)	ACTN2 (E821G +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2941766	NM_001103.4(ACTN2):c.1473C>G (p.Asp491Glu)	ACTN2 (D283E +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2941526	NM_001103.4(ACTN2):c.498T>C (p.Ala166=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2941279	NM_001103.4(ACTN2):c.989A>T (p.His330Leu)	ACTN2 (H330L +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2941192	NM_001103.4(ACTN2):c.171C>A (p.Thr57=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2941072	NM_003673.4(TCAP):c.34G>C (p.Glu12Gln)	TCAP (E12Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2941056	NM_001103.4(ACTN2):c.242-3C>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2940974	NM_001103.4(ACTN2):c.2074A>G (p.Ile692Val)	ACTN2 (I442V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2940914	NM_001103.4(ACTN2):c.792A>G (p.Thr264=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2940721	NM_003673.4(TCAP):c.93C>A (p.Ser31=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2940610	NM_001103.4(ACTN2):c.877-6G>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2940383	NM_001103.4(ACTN2):c.804G>A (p.Arg268=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2940248	NM_001103.4(ACTN2):c.277C>A (p.Arg93=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GBenign
Select item 2940086	NM_001103.4(ACTN2):c.442G>C (p.Val148Leu)	ACTN2 (V148L)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2939959	NM_001103.4(ACTN2):c.1256-20T>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2939749	NM_001103.4(ACTN2):c.537-11_537-3del	ACTN2	Deletion (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2939694	NM_001103.4(ACTN2):c.446A>G (p.Glu149Gly)	ACTN2 (E149G)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2939324	NM_001103.4(ACTN2):c.984G>C (p.Arg328=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2939056	NM_001103.4(ACTN2):c.2085G>A (p.Leu695=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2938797	NM_001103.4(ACTN2):c.2175G>A (p.Glu725=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2938545	NM_001103.4(ACTN2):c.669G>T (p.Leu223=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2937928	NM_003673.4(TCAP):c.291C>G (p.Ala97=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2937740	NM_003673.4(TCAP):c.212T>C (p.Met71Thr)	TCAP (M71T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2937444	NM_001103.4(ACTN2):c.1407-12C>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2937322	NM_003673.4(TCAP):c.78G>A (p.Lys26=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2937161	NM_001103.4(ACTN2):c.877-9G>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2937089	NM_001103.4(ACTN2):c.126+2T>G	ACTN2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2936853	NM_001103.4(ACTN2):c.127-15T>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2936524	NM_001103.4(ACTN2):c.2526+3C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance

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