ClinVar for MedGen (Select 356703) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920608	NM_000474.4(TWIST1):c.325C>T (p.Gln109Ter)	TWIST1 (Q109*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +2 more	GPathogenic
Select item 1031586	NM_000474.4(TWIST1):c.508dup (p.Ser170fs)	LOC129998021, TWIST1 (S170fs)	Duplication (frameshift variant +1 more)	Robinow-Sorauf syndrome	GPathogenic
Select item 543080	NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup)	TWIST1	Duplication (inframe_insertion +1 more)	Saethre-Chotzen syndrome +3 more	GBenign/Likely benign
Select item 235255	NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)	TWIST1 (G32S)	Single nucleotide variant (missense variant +1 more)	Sweeney-Cox syndrome +6 more	GConflicting classifications of pathogenicity
Select item 7984	NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)	TWIST1 (Q71*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 7981	NM_000474.4(TWIST1):c.460dup (p.Arg154fs)	LOC129998021, TWIST1 (R154fs)	Duplication (frameshift variant +1 more)	Robinow-Sorauf syndrome	GPathogenic

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