ClinVar for MedGen (Select 41614) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929439	NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg)	CANT1 (W247R)	Single nucleotide variant (missense variant)	Joint dislocation +1 more	GLikely pathogenic
Select item 373924	NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance