CAPN8[gene] - ClinVar

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Items: 55

	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 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	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 2639919	NM_001143962.2(CAPN8):c.1320G>A (p.Lys440=)	CAPN8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2377162	NM_001143962.2(CAPN8):c.1169G>A (p.Arg390His)	CAPN8 (R390H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2251769	NM_001143962.2(CAPN8):c.1145G>C (p.Trp382Ser)	CAPN8 (W382S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533961	NM_001143962.2(CAPN8):c.1109C>T (p.Thr370Ile)	CAPN8 (T370I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529786	NM_001143962.2(CAPN8):c.1100G>A (p.Arg367Gln)	CAPN8 (R367Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334750	NM_001143962.2(CAPN8):c.1068G>T (p.Trp356Cys)	CAPN8 (W356C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318305	NM_001143962.2(CAPN8):c.1025A>C (p.Asn342Thr)	CAPN8 (N342T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352921	NM_001143962.2(CAPN8):c.1021T>C (p.Cys341Arg)	CAPN8 (C341R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245014	NM_001143962.2(CAPN8):c.1019T>A (p.Ile340Asn)	CAPN8 (I340N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360460	NM_001143962.2(CAPN8):c.1018A>T (p.Ile340Phe)	CAPN8 (I340F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516004	NM_001143962.2(CAPN8):c.944T>C (p.Leu315Pro)	CAPN8 (L315P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458067	NM_001143962.2(CAPN8):c.928C>T (p.Arg310Trp)	CAPN8 (R310W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339086	NM_001143962.2(CAPN8):c.886G>T (p.Ala296Ser)	CAPN8 (A296S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375816	NM_001143962.2(CAPN8):c.742G>T (p.Ala248Ser)	CAPN8 (A248S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314952	NM_001143962.2(CAPN8):c.740C>T (p.Ala247Val)	CAPN8 (A247V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618080	NM_001143962.2(CAPN8):c.357G>C (p.Glu119Asp)	CAPN8, LOC126806026 (E119D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212138	NM_001143962.2(CAPN8):c.335C>T (p.Ala112Val)	CAPN8, LOC126806026 (A112V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612784	NM_001143962.2(CAPN8):c.297G>C (p.Gln99His)	CAPN8 (Q99H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454975	NM_001143962.2(CAPN8):c.265G>A (p.Val89Ile)	CAPN8 (V89I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2339867	NM_001143962.2(CAPN8):c.262A>T (p.Ile88Phe)	CAPN8 (I88F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323137	NM_001143962.2(CAPN8):c.238G>A (p.Glu80Lys)	CAPN8 (E80K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379807	NM_001143962.2(CAPN8):c.236C>T (p.Thr79Met)	CAPN8 (T79M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515705	NM_001143962.2(CAPN8):c.229C>T (p.Arg77Trp)	CAPN8 (R77W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318163	NM_001143962.2(CAPN8):c.185A>C (p.Asp62Ala)	CAPN8 (D62A)	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	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +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

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Items: 55