CAPN12[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1275240	NM_144691.4(CAPN12):c.*197T>C	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant)	not provided	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 1261296	NM_144691.4(CAPN12):c.2134-6C>T	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 735155	NM_144691.4(CAPN12):c.2079C>T (p.His693=)	ACTN4, CAPN12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1293786	NM_144691.4(CAPN12):c.2074+22_2074+31del	ACTN4, CAPN12	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
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 777472	NM_144691.4(CAPN12):c.2040C>T (p.Phe680=)	ACTN4, CAPN12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 1293783	NM_144691.4(CAPN12):c.1958-84T>A	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1231606	NM_144691.4(CAPN12):c.1957+253C>G	CAPN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3043045	NM_144691.4(CAPN12):c.1957+6dup	CAPN12	Duplication (intron variant)	CAPN12-related disorder	GBenign
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 1266840	NM_144691.4(CAPN12):c.1887T>C (p.Phe629=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3043447	NM_144691.4(CAPN12):c.1879-3C>T	CAPN12	Single nucleotide variant (intron variant)	CAPN12-related disorder	GLikely benign
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 1245872	NM_144691.4(CAPN12):c.1815+57C>T	CAPN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182392	NM_144691.4(CAPN12):c.1815+25G>A	CAPN12	Single nucleotide variant (intron variant)	not provided	GBenign
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 2596673	NM_144691.4(CAPN12):c.1766C>T (p.Pro589Leu)	CAPN12 (P589L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262478	NM_144691.4(CAPN12):c.1745-17C>T	CAPN12	Single nucleotide variant (intron variant)	not provided	GBenign
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 1250956	NM_144691.4(CAPN12):c.1686+152A>G	CAPN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 742127	NM_144691.4(CAPN12):c.1660C>T (p.Gln554Ter)	CAPN12 (Q554*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
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 2632245	NM_144691.4(CAPN12):c.1627-6C>A	CAPN12	Single nucleotide variant (intron variant)	CAPN12-related disorder	GUncertain significance
Select item 732597	NM_144691.4(CAPN12):c.1605C>T (p.Ser535=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2461679	NM_144691.4(CAPN12):c.1591G>A (p.Asp531Asn)	CAPN12 (D531N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234264	NM_144691.4(CAPN12):c.1584-39C>T	CAPN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253136	NM_144691.4(CAPN12):c.1583+12G>A	CAPN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041010	NM_144691.4(CAPN12):c.1583+9C>T	CAPN12	Single nucleotide variant (intron variant)	CAPN12-related disorder	GLikely benign
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 3041269	NM_144691.4(CAPN12):c.1560C>T (p.Phe520=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
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 3033698	NM_144691.4(CAPN12):c.1530C>T (p.Gly510=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GBenign
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 3053830	NM_144691.4(CAPN12):c.1434C>T (p.Ala478=)	CAPN12, LOC130064372	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GBenign
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 1267731	NM_144691.4(CAPN12):c.1406A>G (p.His469Arg)	CAPN12, LOC130064372 (H469R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2609988	NM_144691.4(CAPN12):c.1391A>C (p.Asp464Ala)	CAPN12, LOC130064372 (D464A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227713	NM_144691.4(CAPN12):c.1374+85A>C	CAPN12	Single nucleotide variant (intron variant)	not provided	GBenign
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 1279412	NM_144691.4(CAPN12):c.1362+268_1362+269del	CAPN12	Microsatellite (intron variant)	not provided	GBenign
Select item 1246458	NM_144691.4(CAPN12):c.1362+225_1362+232dup	CAPN12	Duplication (intron variant)	not provided	GBenign
Select item 1241282	NM_144691.4(CAPN12):c.1362+184_1362+191del	CAPN12	Microsatellite (intron variant)	not provided	GBenign
Select item 1259758	NM_144691.4(CAPN12):c.1362+144del	CAPN12	Deletion (intron variant)	not provided	GBenign
Select item 1275007	NM_144691.4(CAPN12):c.1362+80A>G	CAPN12	Single nucleotide variant (intron variant)	not provided	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 3042438	NM_144691.4(CAPN12):c.1332_1340dup (p.Thr447_Val448insTyrLeuThr)	CAPN12, LOC130064373	Duplication	CAPN12-related disorder	GLikely benign
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 777473	NM_144691.4(CAPN12):c.1311C>T (p.Arg437=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 732598	NM_144691.4(CAPN12):c.1269G>A (p.Lys423=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1293782	NM_144691.4(CAPN12):c.1263G>A (p.Thr421=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3056650	NM_144691.4(CAPN12):c.1257C>A (p.Gly419=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
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 3035388	NM_144691.4(CAPN12):c.1242C>T (p.Gly414=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
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 3056534	NM_144691.4(CAPN12):c.1236A>C (p.Ala412=)	CAPN12	Single nucleotide variant (synonymous 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 736501	NM_144691.4(CAPN12):c.1230A>C (p.Ala410=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3263173	NM_144691.4(CAPN12):c.1180G>A (p.Glu394Lys)	CAPN12 (E394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2370413	NM_144691.4(CAPN12):c.1084C>T (p.Arg362Cys)	CAPN12 (R362C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778830	NM_144691.4(CAPN12):c.1056C>T (p.Gly352=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3042263	NM_144691.4(CAPN12):c.1051G>C (p.Gly351Arg)	CAPN12 (G351R)	Single nucleotide variant (missense variant)	CAPN12-related disorder	GLikely benign

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