ClinVar for MedGen (Select 934646) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696620	NM_006494.4(ERF):c.398C>T (p.Pro133Leu)	ERF (P133L +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis +2 more	GUncertain significance
Select item 1696540	NM_006494.4(ERF):c.373+8C>T	ERF	Single nucleotide variant (intron variant)	Craniosynostosis 4 +1 more	GUncertain significance
Select item 1334510	NM_006494.4(ERF):c.939C>A (p.Tyr313Ter)	ERF (Y238* +1 more)	Single nucleotide variant (nonsense)	Craniosynostosis 4 +1 more	GLikely pathogenic
Select item 420168	NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)	ERF (K326fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder +5 more	GPathogenic/Likely pathogenic
Select item 267443	NM_006494.4(ERF):c.266A>G (p.Tyr89Cys)	ERF (Y89C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 55923	NM_006494.4(ERF):c.547C>T (p.Arg183Ter)	ERF (R183* +1 more)	Single nucleotide variant (nonsense)	TWIST1-related craniosynostosis +2 more	GPathogenic

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