ACTN3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006222, LOC130006223 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	LOC130006168, LOC130006169 +212 more	Copy number gain	See cases	GPathogenic
Select item 3057224	NM_001258371.3(ACTN3):c.34T>C (p.Cys12Arg)	ACTN3 (C12R)	Single nucleotide variant (missense variant)	ACTN3-related disorder	GLikely benign
Select item 3050805	NM_001258371.3(ACTN3):c.243C>G (p.Pro81=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GBenign
Select item 3045587	NM_001258371.3(ACTN3):c.252C>T (p.Pro84=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GBenign
Select item 3142072	NM_001104.4(ACTN3):c.40G>A (p.Glu14Lys)	ACTN3 (E14K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589637	NM_001104.4(ACTN3):c.41A>C (p.Glu14Ala)	ACTN3 (E14A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244133	NM_001104.4(ACTN3):c.80T>G (p.Met27Arg)	ACTN3 (M27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033952	NM_001104.4(ACTN3):c.106G>C (p.Asp36His)	ACTN3 (D36H)	Single nucleotide variant (missense variant +1 more)	ACTN3-related disorder	GLikely benign
Select item 2471199	NM_001104.4(ACTN3):c.143G>A (p.Arg48Gln)	ACTN3 (R48Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141990	NM_001104.4(ACTN3):c.205A>G (p.Ile69Val)	ACTN3 (I112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142005	NM_001104.4(ACTN3):c.221G>A (p.Arg74His)	ACTN3 (R74H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397238	NM_001104.4(ACTN3):c.235C>T (p.Leu79Phe)	ACTN3 (L122F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641991	NM_001104.4(ACTN3):c.241C>T (p.Leu81=)	ACTN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641992	NM_001104.4(ACTN3):c.249G>A (p.Leu83=)	ACTN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142044	NM_001104.4(ACTN3):c.269G>A (p.Arg90Lys)	ACTN3 (R133K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142051	NM_001104.4(ACTN3):c.288A>T (p.Lys96Asn)	ACTN3 (K96N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465892	NM_001104.4(ACTN3):c.344C>A (p.Ala115Asp)	ACTN3 (A158D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550078	NM_001104.4(ACTN3):c.374G>A (p.Gly125Asp)	ACTN3 (G168D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457340	NM_001104.4(ACTN3):c.380A>C (p.Glu127Ala)	ACTN3 (E127A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605149	NM_001104.4(ACTN3):c.388G>A (p.Val130Ile)	ACTN3 (V173I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142068	NM_001104.4(ACTN3):c.394G>A (p.Gly132Arg)	ACTN3 (G132R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142074	NM_001104.4(ACTN3):c.410C>T (p.Thr137Ile)	ACTN3 (T180I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281755	NM_001104.4(ACTN3):c.422T>C (p.Ile141Thr)	ACTN3 (I141T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142086	NM_001104.4(ACTN3):c.434T>C (p.Ile145Thr)	ACTN3 (I145T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388005	NM_001104.4(ACTN3):c.445G>A (p.Ala149Thr)	ACTN3 (A192T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310523	NM_001104.4(ACTN3):c.464T>C (p.Val155Ala)	ACTN3 (V155A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033075	NM_001104.4(ACTN3):c.596G>A (p.Arg199Gln)	ACTN3 (R199Q +1 more)	Single nucleotide variant (missense variant)	ACTN3-related disorder	GLikely benign
Select item 2353932	NM_001104.4(ACTN3):c.601C>T (p.Arg201Cys)	ACTN3 (R244C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042256	NM_001104.4(ACTN3):c.632G>A (p.Arg211Gln)	ACTN3 (R211Q +1 more)	Single nucleotide variant (missense variant)	ACTN3-related disorder	GBenign
Select item 3142098	NM_001104.4(ACTN3):c.703A>T (p.Met235Leu)	ACTN3 (M278L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042807	NM_001104.4(ACTN3):c.741G>A (p.Pro247=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GLikely benign
Select item 3142104	NM_001104.4(ACTN3):c.761C>A (p.Thr254Asn)	ACTN3 (T297N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592823	NM_001104.4(ACTN3):c.764A>G (p.Tyr255Cys)	ACTN3 (Y298C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592605	NM_001104.4(ACTN3):c.773G>A (p.Cys258Tyr)	ACTN3 (C301Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455159	NM_001104.4(ACTN3):c.853G>A (p.Glu285Lys)	ACTN3 (E285K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250171	NM_001104.4(ACTN3):c.861G>T (p.Glu287Asp)	ACTN3 (E287D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514815	NM_001104.4(ACTN3):c.870G>A (p.Met290Ile)	ACTN3 (M290I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396185	NM_001104.4(ACTN3):c.904G>A (p.Glu302Lys)	ACTN3 (E302K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396186	NM_001104.4(ACTN3):c.905A>G (p.Glu302Gly)	ACTN3 (E302G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641993	NM_001104.4(ACTN3):c.940C>T (p.Arg314Cys)	ACTN3 (R314C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3142129	NM_001104.4(ACTN3):c.971A>G (p.Gln324Arg)	ACTN3 (Q324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053164	NM_001104.4(ACTN3):c.992G>A (p.Arg331Gln)	ACTN3 (R331Q +1 more)	Single nucleotide variant (missense variant)	ACTN3-related disorder	GBenign
Select item 2258684	NM_001104.4(ACTN3):c.1036T>G (p.Cys346Gly)	ACTN3 (C389G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531150	NM_001104.4(ACTN3):c.1052A>G (p.Asn351Ser)	ACTN3 (N351S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037441	NM_001104.4(ACTN3):c.1110C>T (p.Ser370=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GLikely benign
Select item 2267748	NM_001104.4(ACTN3):c.1111G>A (p.Glu371Lys)	ACTN3 (E371K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045362	NM_001104.4(ACTN3):c.1129-8C>T	ACTN3	Single nucleotide variant (intron variant)	ACTN3-related disorder	GLikely benign
Select item 2272111	NM_001104.4(ACTN3):c.1151G>A (p.Gly384Glu)	ACTN3 (G384E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141898	NM_001104.4(ACTN3):c.1175A>G (p.Tyr392Cys)	ACTN3 (Y392C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057708	NM_001104.4(ACTN3):c.1200C>A (p.Ile400=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GLikely benign
Select item 2219641	NM_001104.4(ACTN3):c.1202G>A (p.Arg401Gln)	ACTN3 (R401Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049642	NM_001104.4(ACTN3):c.1237T>C (p.Phe413Leu)	ACTN3 (F413L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376680	NM_001104.4(ACTN3):c.1240C>T (p.Arg414Trp)	ACTN3 (R414W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039054	NM_001104.4(ACTN3):c.1249G>T (p.Ala417Ser)	ACTN3 (A417S +1 more)	Single nucleotide variant (missense variant)	ACTN3-related disorder	GBenign
Select item 3141909	NM_001104.4(ACTN3):c.1286A>T (p.Glu429Val)	ACTN3 (E429V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531565	NM_001104.4(ACTN3):c.1305C>A (p.Asp435Glu)	ACTN3 (D435E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313520	NM_001104.4(ACTN3):c.1379C>T (p.Ala460Val)	ACTN3 (A460V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141925	NM_001104.4(ACTN3):c.1406C>G (p.Ala469Gly)	ACTN3 (A512G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049744	NM_001104.4(ACTN3):c.1407C>T (p.Ala469=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GLikely benign
Select item 3034423	NM_001104.4(ACTN3):c.1410G>A (p.Ala470=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GBenign
Select item 2527981	NM_001104.4(ACTN3):c.1412T>G (p.Leu471Arg)	ACTN3 (L471R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210535	NM_001104.4(ACTN3):c.1445A>G (p.Glu482Gly)	ACTN3 (E482G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050480	NM_001104.4(ACTN3):c.1476C>A (p.Ala492=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GLikely benign
Select item 3141940	NM_001104.4(ACTN3):c.1492G>T (p.Asp498Tyr)	ACTN3 (D541Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357741	NM_001104.4(ACTN3):c.1515G>C (p.Gln505His)	ACTN3 (Q548H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243974	NM_001104.4(ACTN3):c.1542G>A (p.Met514Ile)	ACTN3 (M557I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059413	NM_001104.4(ACTN3):c.1568G>A (p.Arg523Gln)	ACTN3 (R523Q +1 more)	Single nucleotide variant (missense variant)	ACTN3-related disorder	GBenign
Select item 3141946	NM_001104.4(ACTN3):c.1569G>C (p.Arg523=)	ACTN3	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2407111	NM_001104.4(ACTN3):c.1592G>A (p.Arg531Gln)	ACTN3 (R574Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141954	NM_001104.4(ACTN3):c.1598C>T (p.Ala533Val)	ACTN3 (A533V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369130	NM_001104.4(ACTN3):c.1622G>A (p.Gly541Asp)	ACTN3 (G541D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458085	NM_001104.4(ACTN3):c.1627G>A (p.Val543Met)	ACTN3 (V543M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141964	NM_001104.4(ACTN3):c.1663G>T (p.Val555Leu)	ACTN3 (V598L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040625	NM_001104.4(ACTN3):c.1678-8G>A	ACTN3	Single nucleotide variant (intron variant)	ACTN3-related disorder	GBenign
Select item 3057152	NM_001104.4(ACTN3):c.1689A>G (p.Thr563=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GBenign
Select item 3035538	NM_001104.4(ACTN3):c.1692G>A (p.Ala564=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GLikely benign
Select item 3141968	NM_001104.4(ACTN3):c.1694A>G (p.His565Arg)	ACTN3 (H608R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268054	NM_001104.4(ACTN3):c.1720G>A (p.Glu574Lys)	ACTN3 (E617K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 18312	NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter)	ACTN3 (R577* +1 more)	Single nucleotide variant (nonsense)	Actn3 deficiency +3 more	GConflicting classifications of pathogenicity; Affects
Select item 3042469	NM_001104.4(ACTN3):c.1784C>A (p.Thr595Lys)	ACTN3 (T595K +1 more)	Single nucleotide variant (missense variant)	ACTN3-related disorder	GLikely benign
Select item 2377859	NM_001104.4(ACTN3):c.1784C>T (p.Thr595Met)	ACTN3 (T638M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365207	NM_001104.4(ACTN3):c.1865G>A (p.Arg622Gln)	ACTN3 (R622Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059776	NM_001104.4(ACTN3):c.1882T>C (p.Cys628Arg)	ACTN3 (C628R +1 more)	Single nucleotide variant (missense variant)	ACTN3-related disorder	GBenign
Select item 2305008	NM_001104.4(ACTN3):c.1903G>A (p.Glu635Lys)	ACTN3 (E635K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056781	NM_001104.4(ACTN3):c.1904A>C (p.Glu635Ala)	ACTN3 (E635A +1 more)	Single nucleotide variant (missense variant)	ACTN3-related disorder	GBenign
Select item 2569113	NM_001104.4(ACTN3):c.1936C>T (p.Arg646Trp)	ACTN3 (R646W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402010	NM_001104.4(ACTN3):c.1937G>A (p.Arg646Gln)	ACTN3 (R646Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389538	NM_001104.4(ACTN3):c.1949C>T (p.Ala650Val)	ACTN3 (A650V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260428	NM_001104.4(ACTN3):c.1966A>G (p.Ile656Val)	ACTN3 (I656V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141986	NM_001104.4(ACTN3):c.1983G>C (p.Gln661His)	ACTN3 (Q661H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475745	NM_001104.4(ACTN3):c.2057G>A (p.Arg686Gln)	ACTN3 (R729Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393464	NM_001104.4(ACTN3):c.2101C>T (p.Arg701Trp)	ACTN3 (R701W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141995	NM_001104.4(ACTN3):c.2155C>G (p.His719Asp)	ACTN3 (H762D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641994	NM_001104.4(ACTN3):c.2176-5G>A	ACTN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3141999	NM_001104.4(ACTN3):c.2182C>T (p.Arg728Cys)	ACTN3 (R728C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056361	NM_001104.4(ACTN3):c.2322G>A (p.Arg774=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GBenign
Select item 3060488	NM_001104.4(ACTN3):c.2327A>G (p.Gln776Arg)	ACTN3 (Q776R +1 more)	Single nucleotide variant (missense variant)	ACTN3-related disorder	GBenign
Select item 2246327	NM_001104.4(ACTN3):c.2338A>G (p.Met780Val)	ACTN3 (M823V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039292	NM_001104.4(ACTN3):c.2397G>A (p.Val799=)	ACTN3	Single nucleotide variant (synonymous variant)	ACTN3-related disorder	GLikely benign

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