"Ambry Genetics"[submitter] AND "CAPN10"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2335548	NM_023083.4(CAPN10):c.25C>T (p.Pro9Ser)	CAPN10, LOC112840920 (P9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297433	NM_023083.4(CAPN10):c.125C>T (p.Thr42Met)	CAPN10, LOC112840920 (T42M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137024	NM_023083.4(CAPN10):c.136C>T (p.Pro46Ser)	CAPN10, LOC112840920 (P46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219783	NM_023083.4(CAPN10):c.148T>C (p.Cys50Arg)	CAPN10 (C50R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286009	NM_023083.4(CAPN10):c.187G>A (p.Gly63Arg)	CAPN10 (G63R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259573	NM_023083.4(CAPN10):c.238G>A (p.Ala80Thr)	CAPN10 (A80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137027	NM_023083.4(CAPN10):c.293C>T (p.Pro98Leu)	CAPN10 (P98L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137028	NM_023083.4(CAPN10):c.353G>A (p.Arg118His)	CAPN10 (R118H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2382525	NM_023083.4(CAPN10):c.415C>T (p.Arg139Cys)	CAPN10 (R139C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137029	NM_023083.4(CAPN10):c.416G>A (p.Arg139His)	CAPN10 (R139H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529729	NM_023083.4(CAPN10):c.429G>C (p.Glu143Asp)	CAPN10 (E143D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 984988	NM_023083.4(CAPN10):c.466G>A (p.Ala156Thr)	CAPN10 (A156T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137031	NM_023083.4(CAPN10):c.476A>G (p.His159Arg)	CAPN10 (H159R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302427	NM_023083.4(CAPN10):c.604C>A (p.Arg202Ser)	CAPN10 (R202S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394506	NM_023083.4(CAPN10):c.605G>A (p.Arg202His)	CAPN10 (R202H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509822	NM_023083.4(CAPN10):c.644A>G (p.Lys215Arg)	CAPN10 (K215R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391122	NM_023083.4(CAPN10):c.652T>C (p.Cys218Arg)	CAPN10 (C218R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478323	NM_023083.4(CAPN10):c.680C>T (p.Pro227Leu)	CAPN10 (P227L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232445	NM_023083.4(CAPN10):c.706G>C (p.Glu236Gln)	CAPN10 (E236Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137032	NM_023083.4(CAPN10):c.752A>G (p.Gln251Arg)	CAPN10 (Q251R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2468086	NM_023083.4(CAPN10):c.835G>A (p.Glu279Lys)	CAPN10 (E279K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 984989	NM_023083.4(CAPN10):c.837_858dup (p.Ala287fs)	CAPN10 (A287fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2342610	NM_023083.4(CAPN10):c.873G>T (p.Glu291Asp)	CAPN10 (E291D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254131	NM_023083.4(CAPN10):c.929G>A (p.Arg310Lys)	CAPN10 (R310K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193513	NM_023083.4(CAPN10):c.1016C>T (p.Thr339Met)	CAPN10 (T339M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2527757	NM_023083.4(CAPN10):c.1019G>A (p.Arg340Gln)	CAPN10 (R340Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2490359	NM_023083.4(CAPN10):c.1028C>T (p.Pro343Leu)	CAPN10 (P343L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290057	NM_023083.4(CAPN10):c.1040T>C (p.Val347Ala)	CAPN10 (V347A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411921	NM_023083.4(CAPN10):c.1078G>A (p.Gly360Ser)	CAPN10 (G360S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410035	NM_023083.4(CAPN10):c.1166C>T (p.Ala389Val)	CAPN10 (A389V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349814	NM_023083.4(CAPN10):c.1183C>T (p.Arg395Trp)	CAPN10 (R395W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495568	NM_023083.4(CAPN10):c.1217C>T (p.Ser406Leu)	CAPN10 (S406L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539416	NM_023083.4(CAPN10):c.1267C>T (p.His423Tyr)	CAPN10 (H423Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204251	NM_023083.4(CAPN10):c.1292G>A (p.Arg431Gln)	CAPN10 (R431Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301832	NM_023083.4(CAPN10):c.1304C>T (p.Pro435Leu)	CAPN10 (P435L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608002	NM_023083.4(CAPN10):c.1357C>T (p.Arg453Trp)	CAPN10 (R453W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235760	NM_023083.4(CAPN10):c.1451G>C (p.Arg484Pro)	CAPN10 (R484P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409748	NM_023083.4(CAPN10):c.1465G>A (p.Gly489Arg)	CAPN10 (G489R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266169	NM_023083.4(CAPN10):c.1504A>G (p.Asn502Asp)	CAPN10 (N502D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258964	NM_023083.4(CAPN10):c.1531G>A (p.Ala511Thr)	CAPN10 (A511T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2461927	NM_023083.4(CAPN10):c.1559G>A (p.Arg520Gln)	CAPN10 (R520Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2220574	NM_023083.4(CAPN10):c.1580A>G (p.Gln527Arg)	CAPN10 (Q527R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231816	NM_023083.4(CAPN10):c.1583C>A (p.Thr528Lys)	CAPN10 (T528K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341357	NM_023083.4(CAPN10):c.1640C>T (p.Ser547Leu)	CAPN10 (S547L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340975	NM_023083.4(CAPN10):c.1669G>A (p.Val557Ile)	CAPN10 (V557I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315364	NM_023083.4(CAPN10):c.1697G>A (p.Arg566Gln)	CAPN10 (R566Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2479539	NM_023083.4(CAPN10):c.1723A>G (p.Ile575Val)	CAPN10 (I575V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292700	NM_023083.4(CAPN10):c.1825G>A (p.Ala609Thr)	CAPN10 (A609T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229385	NM_023083.4(CAPN10):c.1849C>T (p.Leu617Phe)	CAPN10 (L462F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137025	NM_023083.4(CAPN10):c.1886C>T (p.Thr629Ile)	CAPN10 (T629I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354888	NM_023083.4(CAPN10):c.1895C>T (p.Pro632Leu)	CAPN10 (P632L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137026	NM_023083.4(CAPN10):c.1916C>T (p.Thr639Ile)	CAPN10 (T484I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523857	NM_023083.4(CAPN10):c.1951A>G (p.Ile651Val)	CAPN10 (I496V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 53