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	LOC112340388, LOC112441449 +821 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	LOC130058096, LOC130058097 +59 more	Copy number loss	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 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	ANTKMT, ARHGDIG +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +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	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	AXIN1, BAIAP3 +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	LOC130058122, LOC130058123 +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 2442094	NM_005632.3(CAPN15):c.55G>T (p.Gly19Cys)	CAPN15 (G19C)	Single nucleotide variant (missense variant)	Oculogastrointestinal-neurodevelopmental syndrome	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 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 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)	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 2645792	NM_005632.3(CAPN15):c.333G>A (p.Ala111=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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)	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 2645795	NM_005632.3(CAPN15):c.471G>A (p.Thr157=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 condition	GLikely benign
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 condition	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 condition	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 2645798	NM_005632.3(CAPN15):c.615C>T (p.Pro205=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 2300224	NM_005632.3(CAPN15):c.829G>A (p.Gly277Ser)	CAPN15 (G277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 +1 more	GLikely benign
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 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 condition	GBenign
Select item 2272099	NM_005632.3(CAPN15):c.1235G>A (p.Arg412His)	CAPN15 (R412H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2469569	NM_005632.3(CAPN15):c.1297G>A (p.Ala433Thr)	CAPN15 (A433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404498	NM_005632.3(CAPN15):c.1300G>A (p.Ala434Thr)	CAPN15 (A434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388196	NM_005632.3(CAPN15):c.1334G>A (p.Arg445Gln)	CAPN15 (R445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214343	NM_005632.3(CAPN15):c.1345G>A (p.Ala449Thr)	CAPN15 (A449T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645801	NM_005632.3(CAPN15):c.1347G>A (p.Ala449=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645802	NM_005632.3(CAPN15):c.1374C>T (p.His458=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	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 2410585	NM_005632.3(CAPN15):c.1445G>A (p.Arg482Gln)	CAPN15 (R482Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2645803	NM_005632.3(CAPN15):c.1485C>T (p.Pro495=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463812	NM_005632.3(CAPN15):c.1486G>A (p.Gly496Arg)	CAPN15 (G496R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344290	NM_005632.3(CAPN15):c.1573G>A (p.Val525Ile)	CAPN15 (V525I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645804	NM_005632.3(CAPN15):c.1593C>T (p.Ala531=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645805	NM_005632.3(CAPN15):c.1668C>T (p.Ser556=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2384030	NM_005632.3(CAPN15):c.1685C>T (p.Ala562Val)	CAPN15 (A562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038895	NM_005632.3(CAPN15):c.1770C>T (p.Asp590=)	CAPN15	Single nucleotide variant (synonymous variant)	CAPN15-related condition	GBenign
Select item 1074293	NM_005632.3(CAPN15):c.1838C>T (p.Ser613Leu)	CAPN15 (S613L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645806	NM_005632.3(CAPN15):c.1842+4G>C	CAPN15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2237071	NM_005632.3(CAPN15):c.1875C>G (p.Ile625Met)	CAPN15 (I625M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428804	NM_005632.3(CAPN15):c.1876G>A (p.Glu626Lys)	CAPN15 (E626K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686538	NM_005632.3(CAPN15):c.1930G>A (p.Ala644Thr)	CAPN15 (A644T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2522375	NM_005632.3(CAPN15):c.2058G>C (p.Lys686Asn)	CAPN15 (K686N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615839	NM_005632.3(CAPN15):c.2063C>T (p.Ala688Val)	CAPN15 (A688V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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