C0175699[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7977	NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)	TWIST1 (E126*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 2444186	NM_000474.4(TWIST1):c.319C>T (p.Gln107Ter)	TWIST1 (Q107*)	Single nucleotide variant (nonsense +1 more)	Saethre-Chotzen syndrome	GPathogenic
Select item 802300	NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)	TWIST1 (Y103*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay +3 more	GPathogenic/Likely pathogenic
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 13268	NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Craniosynostosis syndrome +15 more	GPathogenic
Select item 13293	NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	FGFR2 (W290C +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +12 more	GPathogenic
Select item 13273	NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	FGFR2 (P253R +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +12 more	GPathogenic/Likely pathogenic
Select item 13272	NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	FGFR2 (S252W +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +13 more	GPathogenic

ClinVar