"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CNTNAP1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163599	NM_003632.3(CNTNAP1):c.343T>C (p.Tyr115His)	CNTNAP1 (Y115H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693700	NM_003632.3(CNTNAP1):c.1081C>T (p.His361Tyr)	CNTNAP1 (H361Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683419	NM_003632.3(CNTNAP1):c.1417C>T (p.Pro473Ser)	CNTNAP1 (P473S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683420	NM_003632.3(CNTNAP1):c.1418C>T (p.Pro473Leu)	CNTNAP1 (P473L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380487	NM_003632.3(CNTNAP1):c.1456+1G>A	CNTNAP1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 254173	NM_003632.3(CNTNAP1):c.1561dup (p.Leu521fs)	CNTNAP1 (L521fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1163600	NM_003632.3(CNTNAP1):c.2141G>A (p.Arg714His)	CNTNAP1 (R714H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 623901	NM_003632.3(CNTNAP1):c.2501G>A (p.Arg834His)	CNTNAP1 (R834H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1252013	NM_003632.3(CNTNAP1):c.2515C>T (p.Arg839Trp)	CNTNAP1 (R839W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380488	NM_003632.3(CNTNAP1):c.2620G>A (p.Glu874Lys)	CNTNAP1 (E874K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778712	NM_003632.3(CNTNAP1):c.2747A>G (p.Tyr916Cys)	CNTNAP1 (Y916C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1482114	NM_003632.3(CNTNAP1):c.2833G>A (p.Gly945Ser)	CNTNAP1 (G945S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693701	NM_003632.3(CNTNAP1):c.2863C>T (p.Pro955Ser)	CNTNAP1 (P955S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380489	NM_003632.3(CNTNAP1):c.2864C>T (p.Pro955Leu)	CNTNAP1 (P955L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318454	NM_003632.3(CNTNAP1):c.2918G>A (p.Arg973His)	CNTNAP1 (R973H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3268317	NM_003632.3(CNTNAP1):c.3166G>A (p.Gly1056Arg)	CNTNAP1 (G1056R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683422	NM_003632.3(CNTNAP1):c.3332T>C (p.Leu1111Pro)	CNTNAP1 (L1111P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521338	NM_003632.3(CNTNAP1):c.3341A>G (p.Asp1114Gly)	CNTNAP1 (D1114G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2683423	NM_003632.3(CNTNAP1):c.3477G>A (p.Val1159=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1693284	NM_003632.3(CNTNAP1):c.3521A>G (p.Asp1174Gly)	CNTNAP1 (D1174G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3380490	NM_003632.3(CNTNAP1):c.3559C>T (p.Arg1187Cys)	CNTNAP1 (R1187C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163601	NM_003632.3(CNTNAP1):c.3589G>C (p.Glu1197Gln)	CNTNAP1 (E1197Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163602	NM_003632.3(CNTNAP1):c.3841T>C (p.Trp1281Arg)	CNTNAP1 (W1281R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163603	NM_003632.3(CNTNAP1):c.3972C>G (p.His1324Gln)	CNTNAP1, LOC128669077 (H1324Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683424	NM_003632.3(CNTNAP1):c.4021C>G (p.Gln1341Glu)	CNTNAP1, LOC128669077 (Q1341E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163604	NM_003632.3(CNTNAP1):c.4031C>T (p.Thr1344Ile)	CNTNAP1, LOC128669077 (T1344I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 26