"Genetic Services Laboratory, University of Chicago"[submitter] AND "C - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210737	NM_001843.4(CNTN1):c.207C>T (p.Ala69=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 210738	NM_001843.4(CNTN1):c.271T>C (p.Tyr91His)	CNTN1 (Y91H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 128797	NM_001843.4(CNTN1):c.401-9C>T	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy +1 more	GBenign
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 128790	NM_001843.4(CNTN1):c.1014T>C (p.Asn338=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 128791	NM_001843.4(CNTN1):c.1416C>T (p.Asn472=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 434796	NM_001843.4(CNTN1):c.1749C>T (p.Cys583=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy +1 more	GConflicting classifications of pathogenicity
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 128792	NM_001843.4(CNTN1):c.1893T>C (p.His631=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 128793	NM_001843.4(CNTN1):c.1956A>G (p.Ala652=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 128794	NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn)	CNTN1 (S775N +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GBenign
Select item 128795	NM_001843.4(CNTN1):c.2493T>C (p.His831=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 128796	NM_001843.4(CNTN1):c.2670A>T (p.Gly890=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 210739	NM_001843.4(CNTN1):c.2823+2TA[2]	CNTN1	Microsatellite (splice donor variant)	not specified	GUncertain significance