"Cirak Lab, University Hospital Cologne"[submitter] AND "CNTNAP1"[gene - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692274	NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)	CNTNAP1, LOC125177481 (Y23*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita +1 more	GPathogenic
Select item 692275	NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met)	CNTNAP1 (V636M)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic