CAPN11[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 728666	NM_007058.4(CAPN11):c.6G>A (p.Leu2=)	CAPN11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2588056	NM_007058.4(CAPN11):c.74G>C (p.Arg25Pro)	CAPN11 (R25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263159	NM_007058.4(CAPN11):c.85G>C (p.Ala29Pro)	CAPN11 (A29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409173	NM_007058.4(CAPN11):c.107C>T (p.Thr36Met)	CAPN11 (T36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265852	NM_007058.4(CAPN11):c.136C>T (p.Arg46Trp)	CAPN11 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570507	NM_007058.4(CAPN11):c.137G>A (p.Arg46Gln)	CAPN11 (R46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263156	NM_007058.4(CAPN11):c.158G>A (p.Gly53Asp)	CAPN11 (G53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371534	NM_007058.4(CAPN11):c.166G>A (p.Asp56Asn)	CAPN11 (D56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337702	NM_007058.4(CAPN11):c.283A>G (p.Lys95Glu)	CAPN11, LOC126859679 (K95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601049	NM_007058.4(CAPN11):c.370G>A (p.Asp124Asn)	CAPN11, LOC126859679 (D124N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263154	NM_007058.4(CAPN11):c.392T>C (p.Ile131Thr)	CAPN11, LOC126859679 (I131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734809	NM_007058.4(CAPN11):c.397C>T (p.Gln133Ter)	CAPN11, LOC126859679 (Q133*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3137038	NM_007058.4(CAPN11):c.448A>T (p.Thr150Ser)	CAPN11 (T150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778004	NM_007058.4(CAPN11):c.453C>T (p.Cys151=)	CAPN11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2397175	NM_007058.4(CAPN11):c.470G>A (p.Arg157His)	CAPN11 (R157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263158	NM_007058.4(CAPN11):c.472G>A (p.Val158Met)	CAPN11 (V158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540949	NM_007058.4(CAPN11):c.473T>G (p.Val158Gly)	CAPN11 (V158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137040	NM_007058.4(CAPN11):c.498G>C (p.Lys166Asn)	CAPN11 (K166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137041	NM_007058.4(CAPN11):c.514A>G (p.Ile172Val)	CAPN11 (I172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263161	NM_007058.4(CAPN11):c.671G>A (p.Gly224Glu)	CAPN11 (G224E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366724	NM_007058.4(CAPN11):c.709G>A (p.Gly237Ser)	CAPN11 (G237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137042	NM_007058.4(CAPN11):c.718G>A (p.Asp240Asn)	CAPN11 (D240N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460564	NM_007058.4(CAPN11):c.733G>A (p.Val245Met)	CAPN11 (V245M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137043	NM_007058.4(CAPN11):c.818G>C (p.Gly273Ala)	CAPN11 (G273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137044	NM_007058.4(CAPN11):c.968G>A (p.Gly323Asp)	CAPN11 (G323D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279752	NM_007058.4(CAPN11):c.1003G>T (p.Ala335Ser)	CAPN11 (A335S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457683	NM_007058.4(CAPN11):c.1058C>T (p.Thr353Met)	CAPN11 (T353M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225073	NM_007058.4(CAPN11):c.1066G>A (p.Gly356Arg)	CAPN11 (G356R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455983	NM_007058.4(CAPN11):c.1084T>C (p.Tyr362His)	CAPN11 (Y362H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380596	NM_007058.4(CAPN11):c.1133C>T (p.Thr378Met)	CAPN11 (T378M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358013	NM_007058.4(CAPN11):c.1186G>C (p.Glu396Gln)	CAPN11 (E396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220863	NM_007058.4(CAPN11):c.1198C>T (p.Arg400Cys)	CAPN11 (R400C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263153	NM_007058.4(CAPN11):c.1199G>A (p.Arg400His)	CAPN11 (R400H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333150	NM_007058.4(CAPN11):c.1235C>G (p.Pro412Arg)	CAPN11 (P412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313529	NM_007058.4(CAPN11):c.1245C>G (p.Phe415Leu)	CAPN11 (F415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329543	NM_007058.4(CAPN11):c.1321G>A (p.Val441Ile)	CAPN11 (V441I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461632	NM_007058.4(CAPN11):c.1369C>T (p.Arg457Trp)	CAPN11 (R457W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541303	NM_007058.4(CAPN11):c.1372C>A (p.Gln458Lys)	CAPN11 (Q458K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137035	NM_007058.4(CAPN11):c.1414G>A (p.Ala472Thr)	CAPN11 (A472T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258440	NM_007058.4(CAPN11):c.1469T>C (p.Phe490Ser)	CAPN11 (F490S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314198	NM_007058.4(CAPN11):c.1478A>G (p.Tyr493Cys)	CAPN11 (Y493C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518373	NM_007058.4(CAPN11):c.1525A>C (p.Ser509Arg)	CAPN11 (S509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137037	NM_007058.4(CAPN11):c.1735G>A (p.Val579Met)	CAPN11 (V579M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251825	NM_007058.4(CAPN11):c.1853T>C (p.Met618Thr)	CAPN11 (M618T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224168	NM_007058.4(CAPN11):c.1864A>C (p.Met622Leu)	CAPN11 (M622L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263155	NM_007058.4(CAPN11):c.1876G>T (p.Gly626Cys)	CAPN11 (G626C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263152	NM_007058.4(CAPN11):c.1997G>T (p.Arg666Leu)	CAPN11 (R666L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364899	NM_007058.4(CAPN11):c.2089T>G (p.Phe697Val)	CAPN11 (F697V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263160	NM_007058.4(CAPN11):c.2107T>C (p.Cys703Arg)	CAPN11 (C703R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359258	NM_007058.4(CAPN11):c.2170C>T (p.His724Tyr)	CAPN11 (H724Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 1809270	GRCh37/hg19 6p21.1(chr6:43571555-44154599)x3	CAPN11, GTPBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 62