"CNTN1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057569	NM_001843.4(CNTN1):c.227+7T>C	CNTN1	Single nucleotide variant (intron variant)	CNTN1-related disorder	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 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 3045858	NM_001843.4(CNTN1):c.2184+9T>G	CNTN1	Single nucleotide variant (intron variant)	CNTN1-related disorder	GLikely benign
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

ClinVar