ClinVar for Gene (Select 147968) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347927	NM_144691.4(CAPN12):c.1087T>C (p.Trp363Arg)	CAPN12 (W363R)	Single nucleotide variant (missense variant)	CAPN12-related disorder	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 3263174	NM_144691.4(CAPN12):c.1552C>T (p.Arg518Cys)	CAPN12 (R518C)	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 3263172	NM_144691.4(CAPN12):c.1439G>C (p.Arg480Pro)	CAPN12 (R480P)	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 3263170	NM_144691.4(CAPN12):c.899G>T (p.Arg300Leu)	CAPN12 (R300L)	Single nucleotide variant (missense variant)	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 3263168	NM_144691.4(CAPN12):c.199T>G (p.Ser67Ala)	CAPN12 (S67A)	Single nucleotide variant (missense variant)	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 3263166	NM_144691.4(CAPN12):c.1439G>T (p.Arg480Leu)	CAPN12 (R480L)	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 3263163	NM_144691.4(CAPN12):c.898C>T (p.Arg300Cys)	CAPN12 (R300C)	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 3137062	NM_144691.4(CAPN12):c.925C>T (p.Arg309Cys)	CAPN12 (R309C)	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 3137060	NM_144691.4(CAPN12):c.830G>A (p.Arg277Gln)	CAPN12 (R277Q)	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 3137058	NM_144691.4(CAPN12):c.712G>A (p.Val238Met)	CAPN12 (V238M)	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 3137052	NM_144691.4(CAPN12):c.445T>C (p.Trp149Arg)	CAPN12 (W149R)	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 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 3137048	NM_144691.4(CAPN12):c.1937G>A (p.Arg646Lys)	CAPN12 (R646K)	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 3137046	NM_144691.4(CAPN12):c.1438C>T (p.Arg480Cys)	CAPN12 (R480C)	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 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3060668	NM_144691.4(CAPN12):c.330T>C (p.Ala110=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GBenign
Select item 3056650	NM_144691.4(CAPN12):c.1257C>A (p.Gly419=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
Select item 3056612	NM_144691.4(CAPN12):c.1596C>T (p.Asp532=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
Select item 3056534	NM_144691.4(CAPN12):c.1236A>C (p.Ala412=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
Select item 3056229	NM_144691.4(CAPN12):c.568G>A (p.Gly190Ser)	CAPN12 (G190S)	Single nucleotide variant (missense variant)	CAPN12-related disorder	GBenign
Select item 3054441	NM_144691.4(CAPN12):c.631G>A (p.Val211Met)	CAPN12 (V211M)	Single nucleotide variant (missense variant)	CAPN12-related disorder	GLikely benign
Select item 3053830	NM_144691.4(CAPN12):c.1434C>T (p.Ala478=)	CAPN12, LOC130064372	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GBenign
Select item 3052017	NM_144691.4(CAPN12):c.561-7C>T	CAPN12	Single nucleotide variant (intron variant)	CAPN12-related disorder	GLikely benign
Select item 3051771	NM_144691.4(CAPN12):c.1433C>G (p.Ala478Gly)	CAPN12, LOC130064372 (A478G)	Single nucleotide variant (missense variant)	CAPN12-related disorder	GBenign
Select item 3049749	NM_144691.4(CAPN12):c.*7C>T	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant)	CAPN12-related disorder	GLikely benign
Select item 3047927	NM_144691.4(CAPN12):c.1776C>T (p.Ile592=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
Select item 3044822	NM_144691.4(CAPN12):c.1051G>T (p.Gly351Trp)	CAPN12 (G351W)	Single nucleotide variant (missense variant)	CAPN12-related disorder	GBenign
Select item 3043505	NM_144691.4(CAPN12):c.1359C>T (p.Phe453=)	CAPN12, LOC130064373	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
Select item 3043447	NM_144691.4(CAPN12):c.1879-3C>T	CAPN12	Single nucleotide variant (intron variant)	CAPN12-related disorder	GLikely benign
Select item 3043045	NM_144691.4(CAPN12):c.1957+6dup	CAPN12	Duplication (intron variant)	CAPN12-related disorder	GBenign
Select item 3042438	NM_144691.4(CAPN12):c.1332_1340dup (p.Thr447_Val448insTyrLeuThr)	CAPN12, LOC130064373	Duplication	CAPN12-related disorder	GLikely benign
Select item 3042263	NM_144691.4(CAPN12):c.1051G>C (p.Gly351Arg)	CAPN12 (G351R)	Single nucleotide variant (missense variant)	CAPN12-related disorder	GLikely benign
Select item 3041706	NM_144691.4(CAPN12):c.1405C>T (p.His469Tyr)	CAPN12, LOC130064372 (H469Y)	Single nucleotide variant (missense variant)	CAPN12-related disorder	GBenign
Select item 3041269	NM_144691.4(CAPN12):c.1560C>T (p.Phe520=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
Select item 3041010	NM_144691.4(CAPN12):c.1583+9C>T	CAPN12	Single nucleotide variant (intron variant)	CAPN12-related disorder	GLikely benign
Select item 3040929	NM_144691.4(CAPN12):c.1230A>T (p.Ala410=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039942	NM_144691.4(CAPN12):c.2091C>T (p.His697=)	ACTN4, CAPN12	Single nucleotide variant (synonymous variant +1 more)	CAPN12-related disorder	GLikely benign
Select item 3039932	NM_144691.4(CAPN12):c.1999C>T (p.Arg667Cys)	ACTN4, CAPN12 (R667C)	Single nucleotide variant (missense variant +1 more)	CAPN12-related disorder	GBenign
Select item 3035388	NM_144691.4(CAPN12):c.1242C>T (p.Gly414=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
Select item 3033698	NM_144691.4(CAPN12):c.1530C>T (p.Gly510=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GBenign
Select item 3033537	NM_144691.4(CAPN12):c.1227T>G (p.Ala409=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
Select item 3026024	NM_144691.4(CAPN12):c.514C>T (p.Gln172Ter)	CAPN12 (Q172*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3025099	NM_144691.4(CAPN12):c.2036G>T (p.Arg679Leu)	ACTN4, CAPN12 (R679L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024674	NM_144691.4(CAPN12):c.230G>A (p.Arg77Lys)	CAPN12 (R77K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024610	GRCh37/hg19 19q13.2(chr19:38909031-39308215)x3	ACTN4, CAPN12 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2649820	NM_144691.4(CAPN12):c.2058C>T (p.His686=)	ACTN4, CAPN12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2632245	NM_144691.4(CAPN12):c.1627-6C>A	CAPN12	Single nucleotide variant (intron variant)	CAPN12-related disorder	GUncertain significance
Select item 2631361	NM_144691.4(CAPN12):c.415T>G (p.Phe139Val)	CAPN12 (F139V)	Single nucleotide variant (missense variant)	CAPN12-related disorder	GUncertain significance
Select item 2629671	NM_144691.4(CAPN12):c.1876C>T (p.Gln626Ter)	CAPN12 (Q626*)	Single nucleotide variant (nonsense)	CAPN12-related disorder	GUncertain significance
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 2609988	NM_144691.4(CAPN12):c.1391A>C (p.Asp464Ala)	CAPN12, LOC130064372 (D464A)	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 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 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 2596673	NM_144691.4(CAPN12):c.1766C>T (p.Pro589Leu)	CAPN12 (P589L)	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 2556330	NM_144691.4(CAPN12):c.763C>G (p.Leu255Val)	CAPN12 (L255V)	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 2522474	NM_144691.4(CAPN12):c.1522C>T (p.His508Tyr)	CAPN12 (H508Y)	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 2519282	NM_144691.4(CAPN12):c.928G>A (p.Asp310Asn)	CAPN12 (D310N)	Single nucleotide variant (missense variant)	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 2508235	NM_144691.4(CAPN12):c.68G>A (p.Arg23His)	CAPN12 (R23H)	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 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 2466609	NM_144691.4(CAPN12):c.1309C>T (p.Arg437Cys)	CAPN12 (R437C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2455355	NM_144691.4(CAPN12):c.1511C>T (p.Pro504Leu)	CAPN12 (P504L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	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 2404005	NM_144691.4(CAPN12):c.919G>A (p.Glu307Lys)	CAPN12 (E307K)	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 2395393	NM_144691.4(CAPN12):c.64G>A (p.Gly22Arg)	CAPN12 (G22R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2384087	NM_144691.4(CAPN12):c.745T>A (p.Tyr249Asn)	CAPN12 (Y249N)	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 2379528	NM_144691.4(CAPN12):c.1364T>G (p.Ile455Ser)	CAPN12 (I455S)	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 2372447	NM_144691.4(CAPN12):c.1896C>G (p.Phe632Leu)	CAPN12 (F632L)	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 2366329	NM_144691.4(CAPN12):c.1700A>G (p.Asn567Ser)	CAPN12 (N567S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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

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