ClinVar for MedGen (Select 230818) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208079	NM_001271893.4(TWIST2):c.229_234dup (p.Gln77_Arg78dup)	TWIST2	Duplication (inframe_insertion)	Barber-Say syndrome	GPathogenic
Select item 208078	NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln)	TWIST2 (E75Q)	Single nucleotide variant (missense variant)	Barber-Say syndrome	GPathogenic
Select item 208076	NM_001271893.4(TWIST2):c.224A>C (p.Glu75Ala)	TWIST2 (E75A)	Single nucleotide variant (missense variant)	Barber-Say syndrome	GPathogenic

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