"PreventionGenetics, part of Exact Sciences"[submitter] AND "CNTN1"[ge - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258204	NM_001843.4(CNTN1):c.90T>C (p.His30=)	CNTN1	Single nucleotide variant (synonymous variant +1 more)	Compton-North congenital myopathy +2 more	GBenign
Select item 3057569	NM_001843.4(CNTN1):c.227+7T>C	CNTN1	Single nucleotide variant (intron variant)	CNTN1-related disorder	GLikely benign
Select item 258200	NM_001843.4(CNTN1):c.400+13T>C	CNTN1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 258201	NM_001843.4(CNTN1):c.401-14del	CNTN1	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
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 258202	NM_001843.4(CNTN1):c.804-8A>G	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy +2 more	GLikely benign
Select item 1169566	NM_001843.4(CNTN1):c.873T>A (p.Ser291=)	CNTN1	Single nucleotide variant (synonymous variant)	CNTN1-related disorder +2 more	GBenign/Likely benign
Select item 668512	NM_001843.4(CNTN1):c.882T>C (p.Val294=)	CNTN1	Single nucleotide variant (synonymous variant)	CNTN1-related disorder +2 more	GLikely benign
Select item 258203	NM_001843.4(CNTN1):c.905T>C (p.Leu302Pro)	CNTN1 (L302P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
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 258192	NM_001843.4(CNTN1):c.1401T>C (p.Gly467=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 705606	NM_001843.4(CNTN1):c.1563C>T (p.Asn521=)	CNTN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 258193	NM_001843.4(CNTN1):c.1805-14C>A	CNTN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 3045858	NM_001843.4(CNTN1):c.2184+9T>G	CNTN1	Single nucleotide variant (intron variant)	CNTN1-related disorder	GLikely benign
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 258194	NM_001843.4(CNTN1):c.2553A>G (p.Glu851=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 258195	NM_001843.4(CNTN1):c.2598C>G (p.Ala866=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +2 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 258196	NM_001843.4(CNTN1):c.2711-17A>G	CNTN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 258197	NM_001843.4(CNTN1):c.2785G>A (p.Val929Ile)	CNTN1 (V929I +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +2 more	GBenign
Select item 3053881	NM_001843.4(CNTN1):c.2787T>G (p.Val929=)	CNTN1	Single nucleotide variant (synonymous variant)	CNTN1-related disorder	GLikely benign
Select item 537198	NM_001843.4(CNTN1):c.2823+5A>G	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy +2 more	GLikely benign
Select item 258198	NM_001843.4(CNTN1):c.2824-6T>C	CNTN1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 258199	NM_001843.4(CNTN1):c.2980+19A>T	CNTN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

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Items: 28