"Ambry Genetics"[submitter] AND "CNTN1"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2075039	NM_001843.4(CNTN1):c.107A>G (p.Asp36Gly)	CNTN1 (D36G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2335030	NM_001843.4(CNTN1):c.184T>G (p.Ser62Ala)	CNTN1 (S51A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325207	NM_001843.4(CNTN1):c.185C>T (p.Ser62Leu)	CNTN1 (S62L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 645568	NM_001843.4(CNTN1):c.265G>A (p.Asp89Asn)	CNTN1 (D89N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2179956	NM_001843.4(CNTN1):c.281T>C (p.Val94Ala)	CNTN1 (V94A +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 537190	NM_001843.4(CNTN1):c.314A>G (p.Lys105Arg)	CNTN1 (K105R +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 2545783	NM_001843.4(CNTN1):c.427C>G (p.Arg143Gly)	CNTN1 (R132G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 537191	NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly)	CNTN1 (S215G +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +2 more	GUncertain significance
Select item 434795	NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln)	CNTN1 (R274Q +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +3 more	GUncertain significance
Select item 1520969	NM_001843.4(CNTN1):c.826C>T (p.Arg276Trp)	CNTN1 (R276W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 963672	NM_001843.4(CNTN1):c.862A>G (p.Ile288Val)	CNTN1 (I277V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2328552	NM_001843.4(CNTN1):c.949G>A (p.Gly317Arg)	CNTN1 (G306R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288715	NM_001843.4(CNTN1):c.1027G>A (p.Asp343Asn)	CNTN1 (D332N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 956222	NM_001843.4(CNTN1):c.1099A>G (p.Asn367Asp)	CNTN1 (N367D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2482821	NM_001843.4(CNTN1):c.1151A>G (p.Glu384Gly)	CNTN1 (E373G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 966127	NM_001843.4(CNTN1):c.1369A>G (p.Asn457Asp)	CNTN1 (N446D +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 3146725	NM_001843.4(CNTN1):c.1391G>C (p.Trp464Ser)	CNTN1 (W453S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 840643	NM_001843.4(CNTN1):c.1484G>A (p.Ser495Asn)	CNTN1 (S484N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 958920	NM_001843.4(CNTN1):c.1694A>G (p.Asn565Ser)	CNTN1 (N565S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 434797	NM_001843.4(CNTN1):c.1814G>A (p.Gly605Asp)	CNTN1 (G605D +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +2 more	GUncertain significance
Select item 970349	NM_001843.4(CNTN1):c.1864C>T (p.Leu622Phe)	CNTN1 (L611F +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 1030483	NM_001843.4(CNTN1):c.1876C>T (p.Arg626Cys)	CNTN1 (R615C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2256446	NM_001843.4(CNTN1):c.1931T>G (p.Ile644Ser)	CNTN1 (I644S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558509	NM_001843.4(CNTN1):c.2173A>G (p.Ile725Val)	CNTN1 (I725V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 546503	NM_001843.4(CNTN1):c.2284C>G (p.Pro762Ala)	CNTN1 (P762A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3146726	NM_001843.4(CNTN1):c.2435C>T (p.Pro812Leu)	CNTN1 (P812L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525431	NM_001843.4(CNTN1):c.2447G>A (p.Gly816Asp)	CNTN1 (G805D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1345196	NM_001843.4(CNTN1):c.2495T>C (p.Val832Ala)	CNTN1 (V832A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1005543	NM_001843.4(CNTN1):c.2495T>G (p.Val832Gly)	CNTN1 (V821G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3146728	NM_001843.4(CNTN1):c.2528G>A (p.Arg843Gln)	CNTN1 (R843Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475891	NM_001843.4(CNTN1):c.2542C>A (p.His848Asn)	CNTN1 (H837N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1992026	NM_001843.4(CNTN1):c.2605G>A (p.Glu869Lys)	CNTN1 (E869K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 949788	NM_001843.4(CNTN1):c.2983G>A (p.Ala995Thr)	CNTN1 (A995T +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +2 more	GUncertain significance
Select item 3146729	NM_001843.4(CNTN1):c.2993T>C (p.Leu998Pro)	CNTN1 (L987P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2245608	NM_001843.4(CNTN1):c.3037C>A (p.Leu1013Ile)	CNTN1 (L1002I +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 469423	NM_001843.4(CNTN1):c.3037C>T (p.Leu1013Phe)	CNTN1 (L1013F +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 1432881	NM_001843.4(CNTN1):c.3047T>C (p.Leu1016Ser)	CNTN1 (L1005S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 37