ClinVar for Gene (Select 87) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141789	NM_001130004.2(ACTN1):c.871C>T (p.Arg291Cys)	ACTN1 (R333C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141762	NM_001130004.2(ACTN1):c.2603A>G (p.Asp868Gly)	ACTN1 (D781G +22 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141758	NM_001130004.2(ACTN1):c.2471A>G (p.Asn824Ser)	ACTN1 (N801S +19 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141741	NM_001130004.2(ACTN1):c.1802A>G (p.Asn601Ser)	ACTN1 (N326S +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141728	NM_001130004.2(ACTN1):c.1160G>A (p.Arg387Gln)	ACTN1 (R322Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065299	NM_001130004.2(ACTN1):c.2504T>A (p.Ile835Asn)	ACTN1 (I538N +19 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 3061023	NM_001130004.2(ACTN1):c.1206G>A (p.Lys402=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder	GLikely benign
Select item 3058062	NM_001130004.2(ACTN1):c.744C>T (p.Ala248=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	ACTN1-related disorder	GLikely benign
Select item 3045541	NM_001130004.2(ACTN1):c.221-4del	ACTN1	Deletion (intron variant)	ACTN1-related disorder	GLikely benign
Select item 3040960	NM_001130004.2(ACTN1):c.2362-5C>T	ACTN1	Single nucleotide variant (intron variant)	ACTN1-related disorder	GLikely benign
Select item 3040697	NM_001130004.2(ACTN1):c.2670C>T (p.Thr890=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder	GLikely benign
Select item 3031552	NM_001130004.2(ACTN1):c.2587-4G>A	ACTN1	Single nucleotide variant (synonymous variant +1 more)	ACTN1-related disorder	GLikely benign
Select item 3021702	NM_001130004.2(ACTN1):c.2362-20G>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019101	NM_001130004.2(ACTN1):c.930A>G (p.Gln310=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3016699	NM_001130004.2(ACTN1):c.1527G>A (p.Gln509=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016224	NM_001130004.2(ACTN1):c.156C>T (p.Ile52=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015989	NM_001130004.2(ACTN1):c.2362-5C>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012656	NM_001130004.2(ACTN1):c.417C>A (p.Ile139=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010850	NM_001130004.2(ACTN1):c.1635+7C>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009076	NM_001130004.2(ACTN1):c.2589C>A (p.Asn863Lys)	ACTN1 (N815K +22 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007802	NM_001130004.2(ACTN1):c.762+13C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005972	NM_001130004.2(ACTN1):c.31G>A (p.Asp11Asn)	ACTN1 (D11N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004399	NM_001130004.2(ACTN1):c.2094G>A (p.Ala698=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002295	NM_001130004.2(ACTN1):c.312C>T (p.Gly104=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002189	NM_001130004.2(ACTN1):c.659A>C (p.Lys220Thr)	ACTN1 (K249T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999917	NM_001130004.2(ACTN1):c.2142T>C (p.Arg714=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995069	NM_001130004.2(ACTN1):c.515+20G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993235	NM_001130004.2(ACTN1):c.1495-20A>G	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990871	NM_001130004.2(ACTN1):c.967C>T (p.His323Tyr)	ACTN1 (H323Y +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986594	NM_001130004.2(ACTN1):c.221-11G>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986454	NM_001130004.2(ACTN1):c.516-14C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984349	NM_001130004.2(ACTN1):c.1116G>A (p.Glu372=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983231	NM_001130004.2(ACTN1):c.1122G>A (p.Val374=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976467	NM_001130004.2(ACTN1):c.918G>T (p.Met306Ile)	ACTN1 (M31I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974781	NM_001130004.2(ACTN1):c.2030G>A (p.Ser677Asn)	ACTN1 (S676N +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974003	NM_001130004.2(ACTN1):c.2368A>G (p.Thr790Ala)	ACTN1 (T790A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973351	NM_001130004.2(ACTN1):c.1211C>G (p.Ser404Cys)	ACTN1 (S433C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971877	NM_001130004.2(ACTN1):c.2503A>G (p.Ile835Val)	ACTN1 (I725V +19 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969897	NM_001130004.2(ACTN1):c.1091T>C (p.Ile364Thr)	ACTN1 (I341T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969117	NM_001130004.2(ACTN1):c.515+7G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967743	NM_001130004.2(ACTN1):c.420C>T (p.Ser140=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2967371	NM_001130004.2(ACTN1):c.856-15G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965917	NM_001130004.2(ACTN1):c.336C>T (p.Ala112=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960598	NM_001130004.2(ACTN1):c.381C>A (p.Ile127=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960575	NM_001130004.2(ACTN1):c.1496G>A (p.Arg499Gln)	ACTN1 (R476Q +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960499	NM_001130004.2(ACTN1):c.1819-13_1819-11del	ACTN1	Microsatellite (intron variant)	not provided	GBenign
Select item 2959881	NM_001130004.2(ACTN1):c.762+14C>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958809	NM_001130004.2(ACTN1):c.2281-11C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956192	NM_001130004.2(ACTN1):c.2427+6G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2918668	NM_001130004.2(ACTN1):c.2659G>A (p.Ala887Thr)	ACTN1 (A795T +22 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2913339	NM_001130004.2(ACTN1):c.762+6C>T	ACTN1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2912539	NM_001130004.2(ACTN1):c.1694G>A (p.Arg565His)	ACTN1 (R290H +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2908365	NM_001130004.2(ACTN1):c.531C>T (p.Leu177=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906590	NM_001130004.2(ACTN1):c.1916C>G (p.Ala639Gly)	ACTN1 (A618G +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901226	NM_001130004.2(ACTN1):c.75G>A (p.Leu25=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900674	NM_001130004.2(ACTN1):c.427+10_427+11inv	ACTN1	Inversion (intron variant)	not provided	GUncertain significance
Select item 2899895	NM_001130004.2(ACTN1):c.303C>T (p.Ala101=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895055	NM_001130004.2(ACTN1):c.821A>G (p.Gln274Arg)	ACTN1 (Q253R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893234	NM_001130004.2(ACTN1):c.2076C>T (p.His692=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892902	NM_001130004.2(ACTN1):c.186C>T (p.Gly62=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2891436	NM_001130004.2(ACTN1):c.816C>T (p.Asn272=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890501	NM_001130004.2(ACTN1):c.2613C>T (p.Arg871=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2887733	NM_001130004.2(ACTN1):c.1219G>A (p.Glu407Lys)	ACTN1 (E342K +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886477	NM_001130004.2(ACTN1):c.559C>T (p.Arg187Trp)	ACTN1 (R186W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2886437	NM_001130004.2(ACTN1):c.906C>T (p.Pro302=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2885018	NM_001130004.2(ACTN1):c.1556C>T (p.Ala519Val)	ACTN1 (A548V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880517	NM_001130004.2(ACTN1):c.340+17G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877737	NM_001130004.2(ACTN1):c.1784T>G (p.Ile595Ser)	ACTN1 (I572S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2871526	NM_001130004.2(ACTN1):c.220+3del	ACTN1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2869836	NM_001130004.2(ACTN1):c.117A>G (p.Ala39=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867777	NM_001130004.2(ACTN1):c.106-18C>G	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858990	NM_001130004.2(ACTN1):c.1371C>T (p.Ile457=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2858314	NM_001130004.2(ACTN1):c.1252C>T (p.Arg418Ter)	ACTN1 (R353* +9 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2854821	NM_001130004.2(ACTN1):c.1629G>C (p.Glu543Asp)	ACTN1 (E522D +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851085	NM_001130004.2(ACTN1):c.324G>A (p.Val108=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2837607	NM_001130004.2(ACTN1):c.2141G>C (p.Arg714Pro)	ACTN1 (R439P +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831956	NM_001130004.2(ACTN1):c.2042A>G (p.Tyr681Cys)	ACTN1 (Y680C +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823659	NM_001130004.2(ACTN1):c.922G>A (p.Ala308Thr)	ACTN1 (A308T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821719	NM_001130004.2(ACTN1):c.2586+18G>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811320	NM_001130004.2(ACTN1):c.2431G>A (p.Glu811Lys)	ACTN1 (E728K +19 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807220	NM_001130004.2(ACTN1):c.1086+18G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2806744	NM_001130004.2(ACTN1):c.1054G>T (p.Ala352Ser)	ACTN1 (A287S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800956	NM_001130004.2(ACTN1):c.1983T>G (p.His661Gln)	ACTN1 (H596Q +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795722	NM_001130004.2(ACTN1):c.770C>T (p.Thr257Ile)	ACTN1 (T256I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2792740	NM_001130004.2(ACTN1):c.1569C>T (p.Asn523=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2792379	NM_001130004.2(ACTN1):c.2223G>A (p.Lys741=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791058	NM_001130004.2(ACTN1):c.147G>A (p.Gly49=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2782317	NM_001130004.2(ACTN1):c.2336G>A (p.Gly779Asp)	ACTN1 (G504D +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2781111	NM_001130004.2(ACTN1):c.2626C>T (p.Pro876Ser)	ACTN1 (P788S +22 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776536	NM_001130004.2(ACTN1):c.851G>A (p.Ser284Asn)	ACTN1 (S283N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770411	NM_001130004.2(ACTN1):c.2211C>T (p.Thr737=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769213	NM_001130004.2(ACTN1):c.1378G>A (p.Glu460Lys)	ACTN1 (E437K +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763624	NM_001130004.2(ACTN1):c.2070C>T (p.Gly690=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder +1 more	GBenign/Likely benign
Select item 2758617	NM_001130004.2(ACTN1):c.2304C>T (p.Pro768=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2751438	NM_001130004.2(ACTN1):c.1929G>A (p.Gly643=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748298	NM_001130004.2(ACTN1):c.1891C>T (p.Leu631=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744088	NM_001130004.2(ACTN1):c.95A>G (p.Gln32Arg)	ACTN1 (Q32R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2744027	NM_001130004.2(ACTN1):c.846G>C (p.Leu282=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737721	NM_001130004.2(ACTN1):c.1284G>A (p.Ser428=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736122	NM_001130004.2(ACTN1):c.2305G>A (p.Glu769Lys)	ACTN1 (E494K +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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