CAPN15[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 58598	GRCh38/hg38 16p13.3(chr16:239680-589745)x3	ARHGDIG, AXIN1 +34 more	Copy number gain	See cases	GPathogenic
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 152602	GRCh38/hg38 16p13.3(chr16:492760-565476)x3	CAPN15, LINC00235 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 146999	GRCh38/hg38 16p13.3(chr16:521803-558532)x1	CAPN15, LINC00235 +3 more	Copy number loss	See cases	GBenign
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 2217957	NM_005632.3(CAPN15):c.13G>A (p.Gly5Arg)	CAPN15 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410469	NM_005632.3(CAPN15):c.50C>T (p.Pro17Leu)	CAPN15 (P17L)	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 2442094	NM_005632.3(CAPN15):c.55G>T (p.Gly19Cys)	CAPN15 (G19C)	Single nucleotide variant (missense variant)	Oculogastrointestinal-neurodevelopmental syndrome	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 2404042	NM_005632.3(CAPN15):c.119G>A (p.Arg40Gln)	CAPN15 (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236697	NM_005632.3(CAPN15):c.122T>G (p.Leu41Arg)	CAPN15 (L41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228288	NM_005632.3(CAPN15):c.134A>G (p.Glu45Gly)	CAPN15 (E45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528457	NM_005632.3(CAPN15):c.151G>T (p.Ala51Ser)	CAPN15 (A51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339591	NM_005632.3(CAPN15):c.154C>T (p.Arg52Cys)	CAPN15 (R52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621110	NM_005632.3(CAPN15):c.155G>T (p.Arg52Leu)	CAPN15 (R52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3034481	NM_005632.3(CAPN15):c.192C>T (p.Cys64=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GLikely benign
Select item 2645791	NM_005632.3(CAPN15):c.221C>T (p.Ala74Val)	CAPN15 (A74V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2358178	NM_005632.3(CAPN15):c.242C>G (p.Pro81Arg)	CAPN15 (P81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600788	NM_005632.3(CAPN15):c.256G>C (p.Val86Leu)	CAPN15 (V86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254835	NM_005632.3(CAPN15):c.274G>A (p.Ala92Thr)	CAPN15 (A92T)	Single nucleotide variant (missense variant)	not specified	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 2645792	NM_005632.3(CAPN15):c.333G>A (p.Ala111=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2380605	NM_005632.3(CAPN15):c.375C>A (p.Asp125Glu)	CAPN15 (D125E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3263200	NM_005632.3(CAPN15):c.391A>C (p.Lys131Gln)	CAPN15 (K131Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645793	NM_005632.3(CAPN15):c.391A>G (p.Lys131Glu)	CAPN15 (K131E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2593771	NM_005632.3(CAPN15):c.409G>A (p.Glu137Lys)	CAPN15 (E137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645794	NM_005632.3(CAPN15):c.412G>A (p.Glu138Lys)	CAPN15 (E138K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2498633	NM_005632.3(CAPN15):c.420G>A (p.Ala140=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3038845	NM_005632.3(CAPN15):c.428C>G (p.Pro143Arg)	CAPN15 (P143R)	Single nucleotide variant (missense variant)	CAPN15-related disorder	GBenign
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 2645795	NM_005632.3(CAPN15):c.471G>A (p.Thr157=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3263208	NM_005632.3(CAPN15):c.499G>A (p.Gly167Arg)	CAPN15 (G167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3263198	NM_005632.3(CAPN15):c.554C>T (p.Pro185Leu)	CAPN15 (P185L)	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 2645796	NM_005632.3(CAPN15):c.570G>C (p.Pro190=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645797	NM_005632.3(CAPN15):c.573C>T (p.Ala191=)	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 3137138	NM_005632.3(CAPN15):c.583G>T (p.Val195Phe)	CAPN15 (V195F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243201	NM_005632.3(CAPN15):c.583G>A (p.Val195Ile)	CAPN15 (V195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2466719	NM_005632.3(CAPN15):c.586G>A (p.Val196Met)	CAPN15 (V196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2306412	NM_005632.3(CAPN15):c.599C>A (p.Pro200His)	CAPN15 (P200H)	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 2645798	NM_005632.3(CAPN15):c.615C>T (p.Pro205=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362234	NM_005632.3(CAPN15):c.631G>A (p.Ala211Thr)	CAPN15 (A211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470446	NM_005632.3(CAPN15):c.683G>A (p.Arg228Lys)	CAPN15 (R228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361763	NM_005632.3(CAPN15):c.710C>T (p.Ser237Phe)	CAPN15 (S237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377030	NM_005632.3(CAPN15):c.730G>A (p.Val244Met)	CAPN15 (V244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3263205	NM_005632.3(CAPN15):c.746G>T (p.Arg249Leu)	CAPN15 (R249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472887	NM_005632.3(CAPN15):c.748G>A (p.Glu250Lys)	CAPN15 (E250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593291	NM_005632.3(CAPN15):c.787G>T (p.Ala263Ser)	CAPN15 (A263S)	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 3263209	NM_005632.3(CAPN15):c.820G>T (p.Ala274Ser)	CAPN15 (A274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300224	NM_005632.3(CAPN15):c.829G>A (p.Gly277Ser)	CAPN15 (G277S)	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 3137142	NM_005632.3(CAPN15):c.907A>G (p.Thr303Ala)	CAPN15 (T303A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286810	NM_005632.3(CAPN15):c.908C>T (p.Thr303Met)	CAPN15 (T303M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333263	NM_005632.3(CAPN15):c.925C>T (p.Arg309Cys)	CAPN15 (R309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597580	NM_005632.3(CAPN15):c.934G>C (p.Ala312Pro)	CAPN15 (A312P)	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 2328374	NM_005632.3(CAPN15):c.976G>A (p.Gly326Arg)	CAPN15 (G326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353419	NM_005632.3(CAPN15):c.977G>T (p.Gly326Val)	CAPN15 (G326V)	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 3137145	NM_005632.3(CAPN15):c.994A>C (p.Thr332Pro)	CAPN15 (T332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205517	NM_005632.3(CAPN15):c.1036T>C (p.Cys346Arg)	CAPN15 (C346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530930	NM_005632.3(CAPN15):c.1049C>T (p.Thr350Met)	CAPN15 (T350M)	Single nucleotide variant (missense variant)	not specified	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 2645799	NM_005632.3(CAPN15):c.1083G>A (p.Ser361=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645800	NM_005632.3(CAPN15):c.1086C>T (p.Ala362=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3137108	NM_005632.3(CAPN15):c.1103T>C (p.Leu368Pro)	CAPN15 (L368P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223058	NM_005632.3(CAPN15):c.1109G>A (p.Gly370Asp)	CAPN15 (G370D)	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 2281449	NM_005632.3(CAPN15):c.1192C>T (p.Arg398Trp)	CAPN15 (R398W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043404	NM_005632.3(CAPN15):c.1203G>A (p.Ser401=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related disorder	GBenign
Select item 2272099	NM_005632.3(CAPN15):c.1235G>A (p.Arg412His)	CAPN15 (R412H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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