CAPN2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 146329	GRCh38/hg38 1q41(chr1:222676842-223882311)x1	AIDA, BROX +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 2611094	NM_001748.5(CAPN2):c.35G>C (p.Arg12Pro)	CAPN2 (R12P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278724	NM_001748.5(CAPN2):c.38A>C (p.Glu13Ala)	CAPN2 (E13A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481757	NM_001748.5(CAPN2):c.63C>A (p.His21Gln)	CAPN2 (H21Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494812	NM_001748.5(CAPN2):c.83T>C (p.Leu28Pro)	CAPN2 (L28P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 715900	NM_001748.5(CAPN2):c.144C>T (p.Asp48=)	CAPN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2592156	NM_001748.5(CAPN2):c.167C>T (p.Ser56Leu)	CAPN2 (S56L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234182	NM_001748.5(CAPN2):c.193C>A (p.Pro65Thr)	CAPN2 (P65T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399220	NM_001748.5(CAPN2):c.215G>A (p.Gly72Asp)	CAPN2 (G72D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790811	NM_001748.5(CAPN2):c.235_237+11dup	CAPN2	Duplication (intron variant +1 more)	not provided	GBenign
Select item 2529296	NM_001748.5(CAPN2):c.266T>C (p.Ile89Thr)	CAPN2 (I89T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 151450	GRCh38/hg38 1q41(chr1:223742902-223749425)x3	CAPN2, LOC122152305	Copy number gain	See cases	GLikely benign
Select item 2588964	NM_001748.5(CAPN2):c.343A>G (p.Thr115Ala)	CAPN2 (T115A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243777	NM_001748.5(CAPN2):c.400A>G (p.Asn134Asp)	CAPN2 (N56D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719166	NM_001748.5(CAPN2):c.550G>A (p.Ala184Thr)	CAPN2 (A106T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2230951	NM_001748.5(CAPN2):c.568G>A (p.Gly190Arg)	CAPN2 (G112R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639920	NM_001748.5(CAPN2):c.585A>G (p.Leu195=)	CAPN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465963	NM_001748.5(CAPN2):c.602C>G (p.Thr201Ser)	CAPN2 (T201S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	GUncertain significance
Select item 2477039	NM_001748.5(CAPN2):c.848G>C (p.Arg283Pro)	CAPN2 (R205P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468747	NM_001748.5(CAPN2):c.850A>G (p.Ile284Val)	CAPN2 (I284V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328749	NM_001748.5(CAPN2):c.897C>A (p.Asp299Glu)	CAPN2 (D221E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398157	NM_001748.5(CAPN2):c.1001A>T (p.His334Leu)	CAPN2, LOC126806028 (H256L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717138	NM_001748.5(CAPN2):c.1044C>T (p.Leu348=)	CAPN2, LOC126806028	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2258278	NM_001748.5(CAPN2):c.1083G>A (p.Met361Ile)	CAPN2, LOC126806028 (M283I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590419	NM_001748.5(CAPN2):c.1100G>A (p.Arg367Gln)	CAPN2, LOC126806028 (R367Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487198	NM_001748.5(CAPN2):c.1114G>A (p.Gly372Arg)	CAPN2, LOC126806028 (G294R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349615	NM_001748.5(CAPN2):c.1192G>A (p.Glu398Lys)	CAPN2 (E320K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508927	NM_001748.5(CAPN2):c.1274A>T (p.Asp425Val)	CAPN2 (D425V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285694	NM_001748.5(CAPN2):c.1328A>G (p.Gln443Arg)	CAPN2 (Q365R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345651	NM_001748.5(CAPN2):c.1353C>G (p.Asn451Lys)	CAPN2 (N373K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2513847	NM_001748.5(CAPN2):c.1406G>A (p.Arg469Gln)	CAPN2 (R469Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303021	NM_001748.5(CAPN2):c.1420C>T (p.Arg474Cys)	CAPN2 (R474C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393152	NM_001748.5(CAPN2):c.1589T>C (p.Ile530Thr)	CAPN2 (I452T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330530	NM_001748.5(CAPN2):c.1724A>T (p.Glu575Val)	CAPN2 (E497V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265169	NM_001748.5(CAPN2):c.1739T>C (p.Met580Thr)	CAPN2 (M580T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386097	NM_001748.5(CAPN2):c.1757C>T (p.Ser586Leu)	CAPN2 (S508L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623440	NM_001748.5(CAPN2):c.1811T>C (p.Ile604Thr)	CAPN2 (I526T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277067	NM_001748.5(CAPN2):c.1846G>A (p.Val616Ile)	CAPN2 (V616I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606220	NM_001748.5(CAPN2):c.1852A>G (p.Arg618Gly)	CAPN2 (R618G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207109	NM_001748.5(CAPN2):c.1898A>C (p.Glu633Ala)	CAPN2 (E555A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261708	NM_001748.5(CAPN2):c.1913T>C (p.Met638Thr)	CAPN2 (M560T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362600	NM_001748.5(CAPN2):c.1940T>C (p.Val647Ala)	CAPN2 (V569A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230360	NM_001748.5(CAPN2):c.1991G>A (p.Arg664Gln)	CAPN2 (R664Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512626	NM_001748.5(CAPN2):c.2015T>C (p.Leu672Pro)	CAPN2 (L594P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456882	NM_001748.5(CAPN2):c.2027T>C (p.Phe676Ser)	CAPN2 (F676S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783017	NM_001748.5(CAPN2):c.2029A>C (p.Lys677Gln)	CAPN2 (K599Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2211317	NM_001748.5(CAPN2):c.2039A>G (p.Asp680Gly)	CAPN2 (D602G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 758921	NM_001748.5(CAPN2):c.2067C>T (p.Leu689=)	CAPN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252865	NM_001748.5(CAPN2):c.2074A>G (p.Ile692Val)	CAPN2 (I614V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NEK7, OR2L2 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 997085	GRCh37/hg19 1q41-42.12(chr1:223552998-224761890)	FBXO28, NVL +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 79