C1744559[trait identifier] AND "OMIM"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39840	NM_001271893.4(TWIST2):c.168del (p.Ser57fs)	TWIST2 (S57fs)	Deletion (frameshift variant)	Focal facial dermal dysplasia type III	GPathogenic
Select item 30679	NM_001271893.4(TWIST2):c.193C>T (p.Gln65Ter)	TWIST2 (Q65*)	Single nucleotide variant (nonsense)	Focal facial dermal dysplasia type III	GPathogenic
Select item 30678	NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter)	TWIST2 (Q119*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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