ACTN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57807	GRCh38/hg38 14q24.1(chr14:67876421-69247382)x1	ACTN1, ACTN1-DT +83 more	Copy number loss	See cases	GLikely pathogenic
Select item 3353605	NM_001130004.2(ACTN1):c.2730C>T (p.Gly910=)	ACTN1	Single nucleotide variant (synonymous variant)	ACTN1-related disorder	GLikely benign
Select item 1917616	NM_001130004.2(ACTN1):c.2728G>A (p.Gly910Ser)	ACTN1 (G883S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988884	NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg)	ACTN1 (G883R +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 2068949	NM_001130004.2(ACTN1):c.2727C>T (p.Tyr909=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2501828	NM_001130004.2(ACTN1):c.2726A>G (p.Tyr909Cys)	ACTN1 (Y822C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2267835	NM_001130004.2(ACTN1):c.2705T>C (p.Met902Thr)	ACTN1 (M815T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627068	NM_001130004.2(ACTN1):c.2683G>A (p.Val895Met)	ACTN1 (V598M +22 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2071086	NM_001130004.2(ACTN1):c.2671G>T (p.Gly891Cys)	ACTN1 (G869C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2014611	NM_001130004.2(ACTN1):c.2668A>T (p.Thr890Ser)	ACTN1 (T863S +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1205893	NM_001130004.2(ACTN1):c.2663C>T (p.Pro888Leu)	ACTN1 (P861L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2003597	NM_001130004.2(ACTN1):c.2660C>A (p.Ala887Asp)	ACTN1 (A800D +4 more)	Single nucleotide variant (missense 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 2636514	NM_001130004.2(ACTN1):c.2658G>C (p.Met886Ile)	ACTN1 (M589I +22 more)	Single nucleotide variant (missense variant)	ACTN1-related disorder	GUncertain significance
Select item 1677254	NM_001130004.2(ACTN1):c.2658G>A (p.Met886Ile)	ACTN1 (M859I +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 1326697	NM_001130004.2(ACTN1):c.2651C>T (p.Ala884Val)	ACTN1 (A857V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968143	NM_001130004.2(ACTN1):c.2640G>C (p.Glu880Asp)	ACTN1 (E793D +4 more)	Single nucleotide variant (missense variant)	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 755914	NM_001130004.2(ACTN1):c.2625A>G (p.Pro875=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175579	NM_001130004.2(ACTN1):c.2614C>T (p.Arg872Cys)	ACTN1 (R785C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2890501	NM_001130004.2(ACTN1):c.2613C>T (p.Arg871=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 426733	NM_001130004.2(ACTN1):c.2612G>A (p.Arg871His)	ACTN1 (R871H +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1987773	NM_001130004.2(ACTN1):c.2611C>T (p.Arg871Cys)	ACTN1 (R849C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2322674	NM_001130004.2(ACTN1):c.2605G>A (p.Glu869Lys)	ACTN1 (E782K +4 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 2718917	NM_001130004.2(ACTN1):c.2602G>A (p.Asp868Asn)	ACTN1 (D571N +22 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3031552	NM_001130004.2(ACTN1):c.2587-4G>A	ACTN1	Single nucleotide variant (synonymous variant +1 more)	ACTN1-related disorder	GLikely benign
Select item 627285	NM_001130004.2(ACTN1):c.2587-26C>T	ACTN1	Single nucleotide variant (intron variant)	Macrothrombocytopenia	GUncertain significance
Select item 1181648	NM_001130004.2(ACTN1):c.2587-172C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240537	NM_001130004.2(ACTN1):c.2587-178T>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257717	NM_001130004.2(ACTN1):c.2586+95C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2821719	NM_001130004.2(ACTN1):c.2586+18G>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704200	NM_001130004.2(ACTN1):c.2551G>A (p.Val851Ile)	ACTN1 (V824I +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 2722343	NM_001130004.2(ACTN1):c.2529C>T (p.Ala843=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043439	NM_001130004.2(ACTN1):c.2520C>T (p.Arg840=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1975782	NM_001130004.2(ACTN1):c.2519G>A (p.Arg840His)	ACTN1 (R813H +4 more)	Single nucleotide variant (missense variant)	not provided	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 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 2438851	NM_001130004.2(ACTN1):c.2482G>A (p.Val828Ile)	ACTN1 (V741I +4 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2177527	NM_001130004.2(ACTN1):c.2474G>A (p.Arg825His)	ACTN1 (R798H +4 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +1 more	GUncertain significance
Select item 389235	NM_001130004.2(ACTN1):c.2473C>T (p.Arg825Cys)	ACTN1 (R825C +2 more)	Single nucleotide variant (missense variant)	not provided	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 2662744	NM_001130004.2(ACTN1):c.2444C>T (p.Ala815Val)	ACTN1 (A518V +19 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1270898	NM_001130004.2(ACTN1):c.2427+206C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956192	NM_001130004.2(ACTN1):c.2427+6G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2408763	NM_001130004.2(ACTN1):c.2396G>A (p.Arg799His)	ACTN1 (R799H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389686	NM_001130004.2(ACTN1):c.2384C>T (p.Thr795Met)	ACTN1 (T768M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 2031358	NM_001130004.2(ACTN1):c.2364G>A (p.Lys788=)	ACTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3040960	NM_001130004.2(ACTN1):c.2362-5C>T	ACTN1	Single nucleotide variant (intron variant)	ACTN1-related disorder	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 2060460	NM_001130004.2(ACTN1):c.2362-5C>G	ACTN1	Single nucleotide variant (intron variant)	not provided	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 1267638	NM_001130004.2(ACTN1):c.2361+59G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698087	NM_001130004.2(ACTN1):c.2342A>G (p.Asp781Gly)	ACTN1 (D781G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1997081	NM_001130004.2(ACTN1):c.2340T>C (p.Tyr780=)	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 2736122	NM_001130004.2(ACTN1):c.2305G>A (p.Glu769Lys)	ACTN1 (E494K +10 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
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 1684460	NM_001130004.2(ACTN1):c.2302C>A (p.Pro768Thr)	ACTN1 (P768T)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 3346746	NM_001130004.2(ACTN1):c.2291G>A (p.Gly764Asp)	ACTN1 (G489D +10 more)	Single nucleotide variant (missense variant +1 more)	ACTN1-related disorder	GUncertain significance
Select item 2581287	NM_001130004.2(ACTN1):c.2290G>A (p.Gly764Ser)	ACTN1 (G489S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2958809	NM_001130004.2(ACTN1):c.2281-11C>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003586	NM_001130004.2(ACTN1):c.2281-17G>A	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233114	NM_001130004.2(ACTN1):c.2280+253del	ACTN1	Deletion (intron variant)	not provided	GBenign
Select item 1918627	NM_001130004.2(ACTN1):c.2280+19G>C	ACTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987177	NM_001130004.2(ACTN1):c.2280+17G>T	ACTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2644343	NM_001130004.2(ACTN1):c.2279G>A (p.Arg760Gln)	ACTN1 (R485Q +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963412	NM_001130004.2(ACTN1):c.2268C>T (p.Asn756=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627280	NM_001130004.2(ACTN1):c.2267A>G (p.Asn756Ser)	ACTN1 (N756S)	Single nucleotide variant (missense variant)	Abnormal platelet function	GUncertain significance
Select item 1703857	NM_001130004.2(ACTN1):c.2255G>C (p.Arg752Pro)	ACTN1 (R752P)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 42030	NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln)	ACTN1 (R752Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2572658	NM_001130004.2(ACTN1):c.2252T>C (p.Phe751Ser)	ACTN1 (F686S +2 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 666550	NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys)	ACTN1 (M748K)	Single nucleotide variant (missense variant)	ACTN1-related disorder +1 more	GLikely pathogenic
Select item 2067926	NM_001130004.2(ACTN1):c.2239C>G (p.Gln747Glu)	ACTN1 (Q747E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026146	NM_001130004.2(ACTN1):c.2228T>C (p.Ile743Thr)	ACTN1 (I751T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691936	NM_001130004.2(ACTN1):c.2225G>T (p.Gly742Val)	ACTN1 (G467V +10 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2792379	NM_001130004.2(ACTN1):c.2223G>A (p.Lys741=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3339815	NM_001130004.2(ACTN1):c.2220C>T (p.Ala740=)	ACTN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1684471	NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln)	ACTN1 (R738Q)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GPathogenic
Select item 872047	NM_001130004.2(ACTN1):c.2212C>G (p.Arg738Gly)	ACTN1 (R738G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 42032	NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp)	ACTN1 (R738W)	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 627277	NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)	ACTN1 (T737A)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 517137	NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg)	ACTN1 (Q734R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2579802	NM_001130004.2(ACTN1):c.2200C>A (p.Gln734Lys)	ACTN1 (Q459K +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872048	NM_001130004.2(ACTN1):c.2186A>G (p.Asn729Ser)	ACTN1 (N729S)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +1 more	GUncertain significance
Select item 1675542	NM_001130004.2(ACTN1):c.2176A>G (p.Arg726Gly)	ACTN1 (R726G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168773	NM_001130004.2(ACTN1):c.2166C>T (p.Thr722=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 684385	NM_001130004.2(ACTN1):c.2157G>C (p.Gln719His)	ACTN1 (Q719H)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 666549	NM_001130004.1(ACTN1):c.[2156A>C;2157G>C]	ACTN1 (Q719H +1 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GLikely pathogenic
Select item 684386	NM_001130004.2(ACTN1):c.2156A>C (p.Gln719Pro)	ACTN1 (Q719P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2999917	NM_001130004.2(ACTN1):c.2142T>C (p.Arg714=)	ACTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1306091	NM_001130004.2(ACTN1):c.2141G>A (p.Arg714His)	ACTN1 (R714H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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