"PreventionGenetics, part of Exact Sciences"[submitter] AND "CAPN12"[g - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 more	GBenign
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 +1 more	GLikely benign
Select item 777472	NM_144691.4(CAPN12):c.2040C>T (p.Phe680=)	ACTN4, CAPN12	Single nucleotide variant (synonymous variant +1 more)	CAPN12-related disorder +1 more	GBenign
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 3043045	NM_144691.4(CAPN12):c.1957+6dup	CAPN12	Duplication (intron variant)	CAPN12-related disorder	GBenign
Select item 1266840	NM_144691.4(CAPN12):c.1887T>C (p.Phe629=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided +1 more	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 3047927	NM_144691.4(CAPN12):c.1776C>T (p.Ile592=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	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 732597	NM_144691.4(CAPN12):c.1605C>T (p.Ser535=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 3041010	NM_144691.4(CAPN12):c.1583+9C>T	CAPN12	Single nucleotide variant (intron variant)	CAPN12-related disorder	GLikely benign
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 3033698	NM_144691.4(CAPN12):c.1530C>T (p.Gly510=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GBenign
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 +1 more	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 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 (inframe insertion)	CAPN12-related disorder	GLikely benign
Select item 777473	NM_144691.4(CAPN12):c.1311C>T (p.Arg437=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 732598	NM_144691.4(CAPN12):c.1269G>A (p.Lys423=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1293782	NM_144691.4(CAPN12):c.1263G>A (p.Thr421=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder +1 more	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 3035388	NM_144691.4(CAPN12):c.1242C>T (p.Gly414=)	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 3040929	NM_144691.4(CAPN12):c.1230A>T (p.Ala410=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GLikely benign
Select item 736501	NM_144691.4(CAPN12):c.1230A>C (p.Ala410=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided +1 more	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 778830	NM_144691.4(CAPN12):c.1056C>T (p.Gly352=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided +1 more	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
Select item 1293793	NM_144691.4(CAPN12):c.1000A>G (p.Thr334Ala)	CAPN12 (T334A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1242051	NM_144691.4(CAPN12):c.859T>C (p.Cys287Arg)	CAPN12 (C287R)	Single nucleotide variant (missense variant)	CAPN12-related disorder +1 more	GBenign
Select item 1268458	NM_144691.4(CAPN12):c.672G>C (p.Leu224=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided +1 more	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 3056229	NM_144691.4(CAPN12):c.568G>A (p.Gly190Ser)	CAPN12 (G190S)	Single nucleotide variant (missense variant)	CAPN12-related disorder	GBenign
Select item 790206	NM_144691.4(CAPN12):c.561-5C>T	CAPN12	Single nucleotide variant (intron variant)	CAPN12-related disorder +1 more	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 708846	NM_144691.4(CAPN12):c.520A>G (p.Asn174Asp)	CAPN12 (N174D)	Single nucleotide variant (missense variant)	CAPN12-related disorder +1 more	GLikely benign
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 3060668	NM_144691.4(CAPN12):c.330T>C (p.Ala110=)	CAPN12	Single nucleotide variant (synonymous variant)	CAPN12-related disorder	GBenign
Select item 732599	NM_144691.4(CAPN12):c.132C>T (p.Ile44=)	CAPN12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 732600	NM_144691.4(CAPN12):c.83G>A (p.Arg28Gln)	CAPN12 (R28Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign

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Items: 47