"Ambry Genetics"[submitter] AND "CAPN12"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137049	NM_144691.4(CAPN12):c.2097T>G (p.Asp699Glu)	ACTN4, CAPN12 (D699E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473056	NM_144691.4(CAPN12):c.2077C>T (p.His693Tyr)	ACTN4, CAPN12 (H693Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360304	NM_144691.4(CAPN12):c.2036G>A (p.Arg679Gln)	ACTN4, CAPN12 (R679Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308258	NM_144691.4(CAPN12):c.2035C>T (p.Arg679Trp)	ACTN4, CAPN12 (R679W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600472	NM_144691.4(CAPN12):c.2032G>A (p.Glu678Lys)	ACTN4, CAPN12 (E678K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387253	NM_144691.4(CAPN12):c.2020C>T (p.Arg674Cys)	ACTN4, CAPN12 (R674C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263169	NM_144691.4(CAPN12):c.2006G>A (p.Arg669Gln)	ACTN4, CAPN12 (R669Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517451	NM_144691.4(CAPN12):c.2000G>A (p.Arg667His)	ACTN4, CAPN12 (R667H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263167	NM_144691.4(CAPN12):c.1997G>C (p.Ser666Thr)	ACTN4, CAPN12 (S666T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253705	NM_144691.4(CAPN12):c.1974C>G (p.Asn658Lys)	ACTN4, CAPN12 (N658K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597179	NM_144691.4(CAPN12):c.1972A>C (p.Asn658His)	ACTN4, CAPN12 (N658H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137048	NM_144691.4(CAPN12):c.1937G>A (p.Arg646Lys)	CAPN12 (R646K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372447	NM_144691.4(CAPN12):c.1896C>G (p.Phe632Leu)	CAPN12 (F632L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596673	NM_144691.4(CAPN12):c.1766C>T (p.Pro589Leu)	CAPN12 (P589L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366329	NM_144691.4(CAPN12):c.1700A>G (p.Asn567Ser)	CAPN12 (N567S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355567	NM_144691.4(CAPN12):c.1687G>A (p.Glu563Lys)	CAPN12 (E563K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137047	NM_144691.4(CAPN12):c.1646A>C (p.Glu549Ala)	CAPN12 (E549A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323799	NM_144691.4(CAPN12):c.1642C>G (p.Leu548Val)	CAPN12 (L548V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461679	NM_144691.4(CAPN12):c.1591G>A (p.Asp531Asn)	CAPN12 (D531N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327665	NM_144691.4(CAPN12):c.1582G>A (p.Val528Met)	CAPN12 (V528M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594360	NM_144691.4(CAPN12):c.1564G>A (p.Glu522Lys)	CAPN12 (E522K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263174	NM_144691.4(CAPN12):c.1552C>T (p.Arg518Cys)	CAPN12 (R518C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531166	NM_144691.4(CAPN12):c.1552C>A (p.Arg518Ser)	CAPN12 (R518S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220762	NM_144691.4(CAPN12):c.1532A>G (p.Asp511Gly)	CAPN12 (D511G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522474	NM_144691.4(CAPN12):c.1522C>T (p.His508Tyr)	CAPN12 (H508Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455355	NM_144691.4(CAPN12):c.1511C>T (p.Pro504Leu)	CAPN12 (P504L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379666	NM_144691.4(CAPN12):c.1465G>C (p.Val489Leu)	CAPN12 (V489L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263171	NM_144691.4(CAPN12):c.1462G>A (p.Asp488Asn)	CAPN12 (D488N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226360	NM_144691.4(CAPN12):c.1442C>T (p.Ser481Leu)	CAPN12 (S481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263172	NM_144691.4(CAPN12):c.1439G>C (p.Arg480Pro)	CAPN12 (R480P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263166	NM_144691.4(CAPN12):c.1439G>T (p.Arg480Leu)	CAPN12 (R480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137046	NM_144691.4(CAPN12):c.1438C>T (p.Arg480Cys)	CAPN12 (R480C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609988	NM_144691.4(CAPN12):c.1391A>C (p.Asp464Ala)	CAPN12, LOC130064372 (D464A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379528	NM_144691.4(CAPN12):c.1364T>G (p.Ile455Ser)	CAPN12 (I455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340952	NM_144691.4(CAPN12):c.1323G>C (p.Lys441Asn)	CAPN12, LOC130064373 (K441N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466609	NM_144691.4(CAPN12):c.1309C>T (p.Arg437Cys)	CAPN12 (R437C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622486	NM_144691.4(CAPN12):c.1277T>C (p.Val426Ala)	CAPN12 (V426A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296965	NM_144691.4(CAPN12):c.1269G>C (p.Lys423Asn)	CAPN12 (K423N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254675	NM_144691.4(CAPN12):c.1262C>T (p.Thr421Met)	CAPN12 (T421M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263162	NM_144691.4(CAPN12):c.1255G>T (p.Gly419Cys)	CAPN12 (G419C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601659	NM_144691.4(CAPN12):c.1238G>T (p.Arg413Leu)	CAPN12 (R413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263173	NM_144691.4(CAPN12):c.1180G>A (p.Glu394Lys)	CAPN12 (E394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370413	NM_144691.4(CAPN12):c.1084C>T (p.Arg362Cys)	CAPN12 (R362C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212383	NM_144691.4(CAPN12):c.1051G>A (p.Gly351Arg)	CAPN12 (G351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137045	NM_144691.4(CAPN12):c.1021A>G (p.Ser341Gly)	CAPN12 (S341G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337703	NM_144691.4(CAPN12):c.1021A>C (p.Ser341Arg)	CAPN12 (S341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519282	NM_144691.4(CAPN12):c.928G>A (p.Asp310Asn)	CAPN12 (D310N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406649	NM_144691.4(CAPN12):c.928G>C (p.Asp310His)	CAPN12 (D310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137062	NM_144691.4(CAPN12):c.925C>T (p.Arg309Cys)	CAPN12 (R309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404005	NM_144691.4(CAPN12):c.919G>A (p.Glu307Lys)	CAPN12 (E307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263170	NM_144691.4(CAPN12):c.899G>T (p.Arg300Leu)	CAPN12 (R300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263163	NM_144691.4(CAPN12):c.898C>T (p.Arg300Cys)	CAPN12 (R300C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137061	NM_144691.4(CAPN12):c.860G>A (p.Cys287Tyr)	CAPN12 (C287Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376836	NM_144691.4(CAPN12):c.839G>C (p.Arg280Pro)	CAPN12 (R280P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137060	NM_144691.4(CAPN12):c.830G>A (p.Arg277Gln)	CAPN12 (R277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556330	NM_144691.4(CAPN12):c.763C>G (p.Leu255Val)	CAPN12 (L255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137059	NM_144691.4(CAPN12):c.760G>A (p.Gly254Ser)	CAPN12 (G254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384087	NM_144691.4(CAPN12):c.745T>A (p.Tyr249Asn)	CAPN12 (Y249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137058	NM_144691.4(CAPN12):c.712G>A (p.Val238Met)	CAPN12 (V238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254522	NM_144691.4(CAPN12):c.677C>T (p.Ser226Phe)	CAPN12 (S226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289878	NM_144691.4(CAPN12):c.629G>C (p.Gly210Ala)	CAPN12 (G210A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137057	NM_144691.4(CAPN12):c.585G>A (p.Met195Ile)	CAPN12 (M195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137055	NM_144691.4(CAPN12):c.575A>G (p.Tyr192Cys)	CAPN12 (Y192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137054	NM_144691.4(CAPN12):c.515A>G (p.Gln172Arg)	CAPN12 (Q172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137053	NM_144691.4(CAPN12):c.509C>T (p.Ser170Leu)	CAPN12 (S170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360140	NM_144691.4(CAPN12):c.505C>T (p.Arg169Cys)	CAPN12 (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476446	NM_144691.4(CAPN12):c.490A>C (p.Lys164Gln)	CAPN12 (K164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228258	NM_144691.4(CAPN12):c.481C>T (p.Arg161Cys)	CAPN12 (R161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137052	NM_144691.4(CAPN12):c.445T>C (p.Trp149Arg)	CAPN12 (W149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263164	NM_144691.4(CAPN12):c.406G>A (p.Ala136Thr)	CAPN12 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137051	NM_144691.4(CAPN12):c.401G>T (p.Gly134Val)	CAPN12 (G134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137050	NM_144691.4(CAPN12):c.367C>T (p.Arg123Trp)	CAPN12 (R123W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403682	NM_144691.4(CAPN12):c.276G>A (p.Met92Ile)	CAPN12 (M92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520321	NM_144691.4(CAPN12):c.257A>T (p.Lys86Met)	CAPN12 (K86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263168	NM_144691.4(CAPN12):c.199T>G (p.Ser67Ala)	CAPN12 (S67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217794	NM_144691.4(CAPN12):c.106C>T (p.Arg36Trp)	CAPN12 (R36W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508235	NM_144691.4(CAPN12):c.68G>A (p.Arg23His)	CAPN12 (R23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263175	NM_144691.4(CAPN12):c.65G>A (p.Gly22Glu)	CAPN12 (G22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395393	NM_144691.4(CAPN12):c.64G>A (p.Gly22Arg)	CAPN12 (G22R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344091	NM_144691.4(CAPN12):c.41A>T (p.Asp14Val)	CAPN12 (D14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 80