Related gene-specific medical variations for Gene (Select 129684) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062639	GRCh37/hg19 2q14.3(chr2:123786881-124860820)x3	CNTNAP5	Copy number gain	not specified	GUncertain significance
Select item 3062618	GRCh37/hg19 2q14.3(chr2:125127795-125192142)x1	CNTNAP5	Copy number loss	not specified	GUncertain significance
Select item 2688812	NM_001367498.1(CNTNAP5):c.292G>A (p.Gly98Arg)	CNTNAP5 (G98R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688811	NM_001367498.1(CNTNAP5):c.1598C>A (p.Ser533Tyr)	CNTNAP5 (S532Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688810	NM_001367498.1(CNTNAP5):c.1039C>T (p.Arg347Ter)	CNTNAP5 (R347*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2688809	NM_001367498.1(CNTNAP5):c.3505G>A (p.Val1169Ile)	CNTNAP5 (V1168I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688808	NM_001367498.1(CNTNAP5):c.2103dup (p.Gly702fs)	CNTNAP5 (G701fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2684686	GRCh37/hg19 2q14.3(chr2:124895977-125006174)x1	CNTNAP5	Copy number loss	not provided	GUncertain significance
Select item 1808273	GRCh37/hg19 2q14.3(chr2:123786882-124860591)x3	CNTNAP5	Copy number gain	not provided	GUncertain significance
Select item 1341118	GRCh37/hg19 2q14.3(chr2:125350284-125500676)x1	CNTNAP5	Copy number loss	not provided	GUncertain significance
Select item 980475	GRCh37/hg19 2q14.3(chr2:125022852-126050881)x3	CNTNAP5	Copy number gain	not provided	GUncertain significance
Select item 562493	GRCh37/hg19 2q14.3(chr2:125127795-125192142)x1	CNTNAP5	Copy number loss	not provided	GUncertain significance
Select item 442246	GRCh37/hg19 2q14.3(chr2:125495326-126049779)x3	CNTNAP5	Copy number gain	See cases	GLikely benign
Select item 394631	GRCh37/hg19 2q14.3(chr2:122863266-125332769)x3	CNTNAP5	Copy number gain	See cases	GUncertain significance
Select item 268066	GRCh37/hg19 2q14.3(chr2:124771097-125341075)x3	CNTNAP5	Copy number gain	See cases	GUncertain significance