CAP1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 2542494	NM_006367.4(CAP1):c.22G>A (p.Val8Ile)	CAP1 (V8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285499	NM_006367.4(CAP1):c.85C>T (p.Arg29Cys)	CAP1 (R29C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 773108	NM_006367.4(CAP1):c.93T>C (p.Tyr31=)	CAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2217315	NM_006367.4(CAP1):c.104C>T (p.Pro35Leu)	CAP1 (P35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775536	NM_006367.4(CAP1):c.219G>A (p.Ala73=)	CAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2391155	NM_006367.4(CAP1):c.370G>A (p.Gly124Ser)	CAP1 (G124S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332294	NM_006367.4(CAP1):c.433G>T (p.Ala145Ser)	CAP1 (A145S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603102	NM_006367.4(CAP1):c.485T>C (p.Met162Thr)	CAP1 (M161T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484205	NM_006367.4(CAP1):c.514T>C (p.Tyr172His)	CAP1 (Y171H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561722	NM_006367.4(CAP1):c.722C>T (p.Pro241Leu)	CAP1 (P241L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518924	NM_006367.4(CAP1):c.775G>A (p.Ala259Thr)	CAP1 (A259T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609850	NM_006367.4(CAP1):c.929C>T (p.Ser310Phe)	CAP1 (S309F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345826	NM_006367.4(CAP1):c.1108A>G (p.Ile370Val)	CAP1, LOC126805712 (I369V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
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

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Items: 24