ClinVar for Gene (Select 823) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263145	NM_005186.4(CAPN1):c.436G>A (p.Ala146Thr)	CAPN1 (A146T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263144	NM_005186.4(CAPN1):c.1633G>A (p.Glu545Lys)	CAPN1 (E545K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263143	NM_005186.4(CAPN1):c.103A>T (p.Ile35Phe)	CAPN1 (I35F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263142	NM_005186.4(CAPN1):c.1006A>T (p.Met336Leu)	CAPN1 (M336L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263141	NM_005186.4(CAPN1):c.1800T>A (p.Asp600Glu)	CAPN1, LOC126861236 (D600E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257456	NM_005186.4(CAPN1):c.1291_1299del (p.Glu431_Arg433del)	CAPN1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3137021	NM_005186.4(CAPN1):c.174T>G (p.Asp58Glu)	CAPN1 (M28R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137019	NM_005186.4(CAPN1):c.1600G>A (p.Asp534Asn)	CAPN1 (D480N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137018	NM_005186.4(CAPN1):c.1593T>G (p.Asn531Lys)	CAPN1 (N477K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137017	NM_005186.4(CAPN1):c.140T>C (p.Val47Ala)	CAPN1 (V47A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3137016	NM_005186.4(CAPN1):c.137G>A (p.Arg46Gln)	CAPN1 (G16R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137015	NM_005186.4(CAPN1):c.1349C>T (p.Pro450Leu)	CAPN1 (P396L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137013	NM_005186.4(CAPN1):c.1082G>A (p.Arg361Gln)	CAPN1 (R307Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3058360	NM_005186.4(CAPN1):c.489C>G (p.Val163=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	CAPN1-related disorder	GLikely benign
Select item 3026907	NM_005186.4(CAPN1):c.322T>C (p.Cys108Arg)	CAPN1 (C108R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022538	NM_005186.4(CAPN1):c.858C>A (p.Gly286=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012786	NM_005186.4(CAPN1):c.267+20G>C	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009978	NM_005186.4(CAPN1):c.590+3G>C	CAPN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3009693	NM_005186.4(CAPN1):c.802T>C (p.Leu268=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991006	NM_005186.4(CAPN1):c.929+11G>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985527	NM_005186.4(CAPN1):c.1686C>T (p.Ser562=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984036	NM_005186.4(CAPN1):c.189G>A (p.Pro63=)	CAPN1 (R33Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2982737	NM_005186.4(CAPN1):c.1342-14TC[2]	CAPN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2978376	NM_005186.4(CAPN1):c.21G>A (p.Thr7=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970685	NM_005186.4(CAPN1):c.675C>T (p.Tyr225=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962172	NM_005186.4(CAPN1):c.1795-11C>T	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961260	NM_005186.4(CAPN1):c.1606-10C>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958481	NM_005186.4(CAPN1):c.1942+19C>T	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958087	NM_005186.4(CAPN1):c.2025C>T (p.Phe675=)	CAPN1, LOC126861236	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955192	NM_005186.4(CAPN1):c.457-5C>G	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890829	NM_005186.4(CAPN1):c.1368G>A (p.Pro456=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886161	NM_005186.4(CAPN1):c.183C>T (p.Phe61=)	CAPN1 (S31F)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2829391	NM_005186.4(CAPN1):c.920G>A (p.Trp307Ter)	CAPN1 (W253* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2829228	NM_005186.4(CAPN1):c.822C>T (p.Tyr274=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811855	NM_005186.4(CAPN1):c.1044G>A (p.Leu348=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803244	NM_005186.4(CAPN1):c.591-17C>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801360	NM_005186.4(CAPN1):c.2012A>C (p.Asp671Ala)	CAPN1, LOC126861236 (D671A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2786627	NM_005186.4(CAPN1):c.888C>T (p.Asn296=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781288	NM_005186.4(CAPN1):c.411C>G (p.His137Gln)	CAPN1 (H83Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2757339	NM_005186.4(CAPN1):c.1566-8C>G	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749781	NM_005186.4(CAPN1):c.456+18del	CAPN1	Deletion (intron variant)	not provided	GBenign
Select item 2725589	NM_005186.4(CAPN1):c.1221G>A (p.Pro407=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717421	NM_005186.4(CAPN1):c.1942+10C>G	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715717	NM_005186.4(CAPN1):c.1065C>T (p.Pro355=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2698510	NM_005186.4(CAPN1):c.760-20G>C	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696101	NM_005186.4(CAPN1):c.267+9G>C	CAPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2691341	NC_000011.9:g.(64956218_64972153)_(64974291_64975525)del	CAPN1	Deletion	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641950	NM_005186.4(CAPN1):c.2042G>A (p.Arg681Gln)	CAPN1, LOC126861236 (R627Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2641949	NM_005186.4(CAPN1):c.1303G>A (p.Gly435Ser)	CAPN1 (G381S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2632374	NM_005186.4(CAPN1):c.1565+1G>A	CAPN1	Single nucleotide variant (splice donor variant)	CAPN1-related disorder	GLikely pathogenic
Select item 2622014	NM_005186.4(CAPN1):c.409C>T (p.His137Tyr)	CAPN1 (H83Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611352	NM_005186.4(CAPN1):c.795C>A (p.Phe265Leu)	CAPN1 (F211L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607348	NM_005186.4(CAPN1):c.682C>T (p.Arg228Cys)	CAPN1 (R228C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603953	NM_005186.4(CAPN1):c.1984C>A (p.Arg662Ser)	CAPN1, LOC126861236 (R662S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584813	NM_005186.4(CAPN1):c.667G>T (p.Glu223Ter)	CAPN1 (E169* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76	GLikely pathogenic
Select item 2570801	NM_005186.4(CAPN1):c.1567G>T (p.Glu523Ter)	CAPN1 (E469* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2570800	NM_005186.4(CAPN1):c.894G>A (p.Trp298Ter)	CAPN1 (W244* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2558254	NM_005186.4(CAPN1):c.224C>A (p.Pro75His)	CAPN1 (P45T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554428	NM_005186.4(CAPN1):c.1211C>A (p.Thr404Lys)	CAPN1 (T350K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544665	NM_005186.4(CAPN1):c.200G>T (p.Ser67Ile)	CAPN1 (A37S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536458	NM_005186.4(CAPN1):c.2021A>G (p.Asn674Ser)	CAPN1, LOC126861236 (N674S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519709	NM_005186.4(CAPN1):c.419G>A (p.Ser140Asn)	CAPN1 (S86N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508481	NM_005186.4(CAPN1):c.965G>A (p.Arg322Gln)	CAPN1 (R322Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498516	NM_005186.4(CAPN1):c.1211C>T (p.Thr404Met)	CAPN1 (T350M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2487708	NM_005186.4(CAPN1):c.1862T>C (p.Leu621Pro)	CAPN1, LOC126861236 (L567P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468596	NM_005186.4(CAPN1):c.1895C>T (p.Ser632Leu)	CAPN1, LOC126861236 (S632L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466872	NM_005186.4(CAPN1):c.728A>C (p.Glu243Ala)	CAPN1 (E243A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2439719	NM_005186.4(CAPN1):c.805G>A (p.Val269Met)	CAPN1 (V215M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 76	GUncertain significance
Select item 2439718	NM_005186.4(CAPN1):c.949G>A (p.Val317Met)	CAPN1 (V263M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 76	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	FADD-related immunodeficiency +1 more	GUncertain significance
Select item 2418190	NM_005186.4(CAPN1):c.532G>T (p.Val178Leu)	CAPN1 (V124L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416432	NM_005186.4(CAPN1):c.267+6A>C	CAPN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2415778	NM_005186.4(CAPN1):c.993C>T (p.Asp331=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2400498	NM_005186.4(CAPN1):c.1600G>T (p.Asp534Tyr)	CAPN1 (D534Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398289	NM_005186.4(CAPN1):c.532G>A (p.Val178Met)	CAPN1 (V124M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387458	NM_005186.4(CAPN1):c.1999G>A (p.Asp667Asn)	CAPN1, LOC126861236 (D667N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337024	NM_005186.4(CAPN1):c.1539C>A (p.Phe513Leu)	CAPN1 (F459L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333352	NM_005186.4(CAPN1):c.2086C>A (p.Leu696Met)	CAPN1 (L642M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331496	NM_005186.4(CAPN1):c.1178T>C (p.Val393Ala)	CAPN1 (V339A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315287	NM_005186.4(CAPN1):c.925G>T (p.Asp309Tyr)	CAPN1 (D309Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314051	NM_005186.4(CAPN1):c.1921C>T (p.Arg641Trp)	CAPN1, LOC126861236 (R641W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298160	NM_005186.4(CAPN1):c.170G>A (p.Arg57His)	CAPN1 (R57H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296761	NM_005186.4(CAPN1):c.440G>A (p.Gly147Asp)	CAPN1 (G93D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294845	NM_005186.4(CAPN1):c.1243T>G (p.Ser415Ala)	CAPN1 (S415A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272474	NM_005186.4(CAPN1):c.673T>C (p.Tyr225His)	CAPN1 (Y225H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266599	NM_005186.4(CAPN1):c.943A>G (p.Asn315Asp)	CAPN1 (N261D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262670	NM_005186.4(CAPN1):c.2011G>A (p.Asp671Asn)	CAPN1, LOC126861236 (D617N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252240	NM_005186.4(CAPN1):c.484G>C (p.Val162Leu)	CAPN1 (V108L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2208692	NM_005186.4(CAPN1):c.1955A>G (p.Asn652Ser)	CAPN1, LOC126861236 (N598S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2191881	NM_005186.4(CAPN1):c.1456C>T (p.Arg486Cys)	CAPN1 (R432C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2187886	NM_005186.4(CAPN1):c.1385G>A (p.Arg462His)	CAPN1 (R408H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2187805	NM_005186.4(CAPN1):c.1040G>A (p.Arg347His)	CAPN1 (R293H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2184260	NM_005186.4(CAPN1):c.1418G>A (p.Arg473His)	CAPN1 (R419H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2178667	NM_005186.4(CAPN1):c.1367C>T (p.Pro456Leu)	CAPN1 (P456L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2175394	NM_005186.4(CAPN1):c.1772G>A (p.Arg591His)	CAPN1 (R537H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2174040	NM_005186.4(CAPN1):c.983A>G (p.Lys328Arg)	CAPN1 (K328R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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