"CAPN15-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034481	NM_005632.3(CAPN15):c.192C>T (p.Cys64=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 2645791	NM_005632.3(CAPN15):c.221C>T (p.Ala74Val)	CAPN15 (A74V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2254835	NM_005632.3(CAPN15):c.274G>A (p.Ala92Thr)	CAPN15 (A92T)	Single nucleotide variant (missense variant)	CAPN15-related condition +1 more	GLikely benign
Select item 3040222	NM_005632.3(CAPN15):c.312A>G (p.Glu104=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GBenign
Select item 2498633	NM_005632.3(CAPN15):c.420G>A (p.Ala140=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition +1 more	GBenign/Likely benign
Select item 3038845	NM_005632.3(CAPN15):c.428C>G (p.Pro143Arg)	CAPN15 (P143R)	Single nucleotide variant (missense variant)	CAPN15-related condition	GBenign
Select item 3055186	NM_005632.3(CAPN15):c.552C>A (p.Val184=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 2645796	NM_005632.3(CAPN15):c.570G>C (p.Pro190=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054323	NM_005632.3(CAPN15):c.582C>T (p.His194=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 3052432	NM_005632.3(CAPN15):c.585C>T (p.Val195=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 3052817	NM_005632.3(CAPN15):c.597G>A (p.Ala199=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 2645798	NM_005632.3(CAPN15):c.615C>T (p.Pro205=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2645800	NM_005632.3(CAPN15):c.1086C>T (p.Ala362=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3043404	NM_005632.3(CAPN15):c.1203G>A (p.Ser401=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GBenign
Select item 3039007	NM_005632.3(CAPN15):c.1283G>A (p.Arg428Gln)	CAPN15 (R428Q)	Single nucleotide variant (missense variant)	CAPN15-related condition	GLikely benign
Select item 3054466	NM_005632.3(CAPN15):c.1404C>T (p.Gly468=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 778578	NM_005632.3(CAPN15):c.1450-4G>A	CAPN15	Single nucleotide variant (intron variant)	CAPN15-related condition +1 more	GBenign
Select item 2630204	NM_005632.3(CAPN15):c.1480C>T (p.Pro494Ser)	CAPN15 (P494S)	Single nucleotide variant (missense variant)	CAPN15-related condition	GUncertain significance
Select item 3044481	NM_005632.3(CAPN15):c.1677G>A (p.Ala559=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 3038895	NM_005632.3(CAPN15):c.1770C>T (p.Asp590=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GBenign
Select item 3050121	NM_005632.3(CAPN15):c.1950G>A (p.Thr650=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 2645807	NM_005632.3(CAPN15):c.2085C>T (p.Ser695=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2498634	NM_005632.3(CAPN15):c.2091C>T (p.Gly697=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition +1 more	GLikely benign
Select item 1678396	NM_005632.3(CAPN15):c.2192+8C>T	CAPN15	Single nucleotide variant (intron variant)	CAPN15-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3044788	NM_005632.3(CAPN15):c.2235C>T (p.Asn745=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 2645808	NM_005632.3(CAPN15):c.2247C>T (p.Ser749=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3043883	NM_005632.3(CAPN15):c.2250C>T (p.Asp750=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 3048839	NM_005632.3(CAPN15):c.2298C>T (p.His766=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 3031713	NM_005632.3(CAPN15):c.2332G>A (p.Gly778Ser)	CAPN15 (G778S)	Single nucleotide variant (missense variant)	CAPN15-related condition	GLikely benign
Select item 3041157	NM_005632.3(CAPN15):c.2334C>T (p.Gly778=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GBenign
Select item 3038753	NM_005632.3(CAPN15):c.2345+5C>T	CAPN15	Single nucleotide variant (intron variant)	CAPN15-related condition	GLikely benign
Select item 2645811	NM_005632.3(CAPN15):c.2352C>T (p.Phe784=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3049909	NM_005632.3(CAPN15):c.2358C>T (p.Ser786=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 3045292	NM_005632.3(CAPN15):c.2430C>T (p.Ser810=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 3040789	NM_005632.3(CAPN15):c.2451G>A (p.Ala817=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 2362470	NM_005632.3(CAPN15):c.2470G>A (p.Ala824Thr)	CAPN15 (A824T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3025451	NM_005632.3(CAPN15):c.2517C>T (p.Asp839=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition +1 more	GLikely benign
Select item 3025028	NM_005632.3(CAPN15):c.2571C>T (p.Phe857=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition +1 more	GBenign
Select item 3053063	NM_005632.3(CAPN15):c.2577C>T (p.Ser859=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 2645813	NM_005632.3(CAPN15):c.2622C>T (p.Arg874=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2645814	NM_005632.3(CAPN15):c.2625G>A (p.Ala875=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2645815	NM_005632.3(CAPN15):c.2637C>T (p.Phe879=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition +1 more	GBenign
Select item 2645819	NM_005632.3(CAPN15):c.2751G>A (p.Ser917=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3060699	NM_005632.3(CAPN15):c.2805C>T (p.Tyr935=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GBenign
Select item 3034996	NM_005632.3(CAPN15):c.2817G>A (p.Leu939=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 3033940	NM_005632.3(CAPN15):c.2940C>T (p.His980=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign
Select item 2645822	NM_005632.3(CAPN15):c.3083+5_3083+40del	CAPN15	Deletion (splice donor variant)	CAPN15-related condition +1 more	GLikely benign
Select item 3052759	NM_005632.3(CAPN15):c.3231C>T (p.Val1077=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GLikely benign

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Items: 48