ClinVar for Gene (Select 6650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376853	NM_005632.3(CAPN15):c.1957G>A (p.Gly653Ser)	CAPN15 (G653S)	Single nucleotide variant (missense variant)	Oculogastrointestinal-neurodevelopmental syndrome	GLikely pathogenic
Select item 3369320	NM_005632.3(CAPN15):c.1465G>A (p.Val489Met)	CAPN15 (V489M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368900	NM_005632.3(CAPN15):c.1282C>T (p.Arg428Trp)	CAPN15 (R428W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364116	NM_005632.3(CAPN15):c.470C>T (p.Thr157Met)	CAPN15 (T157M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352355	NM_005632.3(CAPN15):c.1082C>T (p.Ser361Leu)	CAPN15 (S361L)	Single nucleotide variant (missense variant)	CAPN15-related disorder	GUncertain significance
Select item 3350336	NM_005632.3(CAPN15):c.2848A>G (p.Thr950Ala)	CAPN15 (T950A)	Single nucleotide variant (missense variant)	CAPN15-related disorder	GUncertain significance
Select item 3349177	NM_005632.3(CAPN15):c.1845G>A (p.Ala615=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3263209	NM_005632.3(CAPN15):c.820G>T (p.Ala274Ser)	CAPN15 (A274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263208	NM_005632.3(CAPN15):c.499G>A (p.Gly167Arg)	CAPN15 (G167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263207	NM_005632.3(CAPN15):c.2327A>C (p.Glu776Ala)	CAPN15 (E776A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3263205	NM_005632.3(CAPN15):c.746G>T (p.Arg249Leu)	CAPN15 (R249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263204	NM_005632.3(CAPN15):c.100G>A (p.Asp34Asn)	CAPN15 (D34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263203	NM_005632.3(CAPN15):c.808G>A (p.Gly270Ser)	CAPN15 (G270S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263202	NM_005632.3(CAPN15):c.1619G>A (p.Arg540Gln)	CAPN15 (R540Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263201	NM_005632.3(CAPN15):c.889G>A (p.Val297Met)	CAPN15 (V297M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263200	NM_005632.3(CAPN15):c.391A>C (p.Lys131Gln)	CAPN15 (K131Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263199	NM_005632.3(CAPN15):c.191G>A (p.Cys64Tyr)	CAPN15 (C64Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263198	NM_005632.3(CAPN15):c.554C>T (p.Pro185Leu)	CAPN15 (P185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263197	NM_005632.3(CAPN15):c.3244G>A (p.Gly1082Arg)	CAPN15 (G1082R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263196	NM_005632.3(CAPN15):c.3043G>A (p.Gly1015Ser)	CAPN15 (G1015S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3234196	NM_005632.3(CAPN15):c.1449+8G>A	CAPN15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3137145	NM_005632.3(CAPN15):c.994A>C (p.Thr332Pro)	CAPN15 (T332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137144	NM_005632.3(CAPN15):c.983C>T (p.Thr328Ile)	CAPN15 (T328I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137143	NM_005632.3(CAPN15):c.938G>A (p.Gly313Asp)	CAPN15 (G313D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137142	NM_005632.3(CAPN15):c.907A>G (p.Thr303Ala)	CAPN15 (T303A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137141	NM_005632.3(CAPN15):c.743G>A (p.Arg248Gln)	CAPN15 (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137140	NM_005632.3(CAPN15):c.610C>T (p.Leu204Phe)	CAPN15 (L204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137138	NM_005632.3(CAPN15):c.583G>T (p.Val195Phe)	CAPN15 (V195F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137137	NM_005632.3(CAPN15):c.563T>C (p.Val188Ala)	CAPN15 (V188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137136	NM_005632.3(CAPN15):c.55G>A (p.Gly19Ser)	CAPN15 (G19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137135	NM_005632.3(CAPN15):c.493G>A (p.Val165Ile)	CAPN15 (V165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137134	NM_005632.3(CAPN15):c.422C>A (p.Ala141Glu)	CAPN15 (A141E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137133	NM_005632.3(CAPN15):c.384G>C (p.Glu128Asp)	CAPN15 (E128D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137130	NM_005632.3(CAPN15):c.368G>T (p.Cys123Phe)	CAPN15 (C123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137129	NM_005632.3(CAPN15):c.3235G>A (p.Gly1079Ser)	CAPN15 (G1079S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137128	NM_005632.3(CAPN15):c.2909G>A (p.Arg970His)	CAPN15 (R970H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137126	NM_005632.3(CAPN15):c.2762C>T (p.Pro921Leu)	CAPN15 (P921L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137125	NM_005632.3(CAPN15):c.2717C>T (p.Pro906Leu)	CAPN15 (P906L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137123	NM_005632.3(CAPN15):c.2638G>A (p.Val880Ile)	CAPN15 (V880I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137122	NM_005632.3(CAPN15):c.2578G>A (p.Gly860Ser)	CAPN15 (G860S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137121	NM_005632.3(CAPN15):c.2509C>T (p.Arg837Cys)	CAPN15 (R837C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137119	NM_005632.3(CAPN15):c.2485G>A (p.Ala829Thr)	CAPN15 (A829T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137118	NM_005632.3(CAPN15):c.2450C>T (p.Ala817Val)	CAPN15 (A817V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137117	NM_005632.3(CAPN15):c.2294C>T (p.Pro765Leu)	CAPN15 (P765L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137115	NM_005632.3(CAPN15):c.2274C>G (p.His758Gln)	CAPN15 (H758Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137114	NM_005632.3(CAPN15):c.1843G>T (p.Ala615Ser)	CAPN15 (A615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137113	NM_005632.3(CAPN15):c.1822G>A (p.Gly608Ser)	CAPN15 (G608S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137112	NM_005632.3(CAPN15):c.1709G>A (p.Arg570Gln)	CAPN15 (R570Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137111	NM_005632.3(CAPN15):c.1465G>T (p.Val489Leu)	CAPN15 (V489L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137110	NM_005632.3(CAPN15):c.1238C>T (p.Pro413Leu)	CAPN15 (P413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137109	NM_005632.3(CAPN15):c.1139A>G (p.His380Arg)	CAPN15 (H380R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137108	NM_005632.3(CAPN15):c.1103T>C (p.Leu368Pro)	CAPN15 (L368P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137107	NM_005632.3(CAPN15):c.1087T>C (p.Cys363Arg)	CAPN15 (C363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060699	NM_005632.3(CAPN15):c.2805C>T (p.Tyr935=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GBenign
Select item 3055186	NM_005632.3(CAPN15):c.552C>A (p.Val184=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3054466	NM_005632.3(CAPN15):c.1404C>T (p.Gly468=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054323	NM_005632.3(CAPN15):c.582C>T (p.His194=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3053063	NM_005632.3(CAPN15):c.2577C>T (p.Ser859=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3052817	NM_005632.3(CAPN15):c.597G>A (p.Ala199=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3052759	NM_005632.3(CAPN15):c.3231C>T (p.Val1077=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3052432	NM_005632.3(CAPN15):c.585C>T (p.Val195=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3050121	NM_005632.3(CAPN15):c.1950G>A (p.Thr650=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3049909	NM_005632.3(CAPN15):c.2358C>T (p.Ser786=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3048839	NM_005632.3(CAPN15):c.2298C>T (p.His766=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3045292	NM_005632.3(CAPN15):c.2430C>T (p.Ser810=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3044788	NM_005632.3(CAPN15):c.2235C>T (p.Asn745=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3044481	NM_005632.3(CAPN15):c.1677G>A (p.Ala559=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3043883	NM_005632.3(CAPN15):c.2250C>T (p.Asp750=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3043404	NM_005632.3(CAPN15):c.1203G>A (p.Ser401=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GBenign
Select item 3041157	NM_005632.3(CAPN15):c.2334C>T (p.Gly778=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GBenign
Select item 3040789	NM_005632.3(CAPN15):c.2451G>A (p.Ala817=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3040222	NM_005632.3(CAPN15):c.312A>G (p.Glu104=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GBenign
Select item 3039007	NM_005632.3(CAPN15):c.1283G>A (p.Arg428Gln)	CAPN15 (R428Q)	Single nucleotide variant (missense variant)	CAPN15-related disorder	GLikely benign
Select item 3038895	NM_005632.3(CAPN15):c.1770C>T (p.Asp590=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GBenign
Select item 3038845	NM_005632.3(CAPN15):c.428C>G (p.Pro143Arg)	CAPN15 (P143R)	Single nucleotide variant (missense variant)	CAPN15-related disorder	GBenign
Select item 3038753	NM_005632.3(CAPN15):c.2345+5C>T	CAPN15	Single nucleotide variant (intron variant)	CAPN15-related disorder	GLikely benign
Select item 3034996	NM_005632.3(CAPN15):c.2817G>A (p.Leu939=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3034481	NM_005632.3(CAPN15):c.192C>T (p.Cys64=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3033940	NM_005632.3(CAPN15):c.2940C>T (p.His980=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 3031713	NM_005632.3(CAPN15):c.2332G>A (p.Gly778Ser)	CAPN15 (G778S)	Single nucleotide variant (missense variant)	CAPN15-related disorder	GLikely benign
Select item 3025451	NM_005632.3(CAPN15):c.2517C>T (p.Asp839=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025028	NM_005632.3(CAPN15):c.2571C>T (p.Phe857=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2645823	NM_005632.3(CAPN15):c.3120C>T (p.Asn1040=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645822	NM_005632.3(CAPN15):c.3083+5_3083+40del	CAPN15	Deletion (splice donor variant)	not provided	GLikely benign
Select item 2645821	NM_005632.3(CAPN15):c.2847G>A (p.Pro949=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645820	NM_005632.3(CAPN15):c.2784G>A (p.Pro928=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645819	NM_005632.3(CAPN15):c.2751G>A (p.Ser917=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645818	NM_005632.3(CAPN15):c.2718G>A (p.Pro906=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645817	NM_005632.3(CAPN15):c.2688C>T (p.Cys896=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645816	NM_005632.3(CAPN15):c.2661G>A (p.Glu887=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645815	NM_005632.3(CAPN15):c.2637C>T (p.Phe879=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2645814	NM_005632.3(CAPN15):c.2625G>A (p.Ala875=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645813	NM_005632.3(CAPN15):c.2622C>T (p.Arg874=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645812	NM_005632.3(CAPN15):c.2361G>A (p.Val787=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645811	NM_005632.3(CAPN15):c.2352C>T (p.Phe784=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645810	NM_005632.3(CAPN15):c.2331C>T (p.Tyr777=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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