Related gene-specific medical variations for Gene (Select 2077) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696540	NM_006494.4(ERF):c.373+8C>T	ERF	Single nucleotide variant (intron variant)	Chitayat syndrome +1 more	GUncertain significance
Select item 1070490	NC_000019.9:g.(?_42759120)_42759196del	ERF	Deletion	TWIST1-related craniosynostosis	GPathogenic
Select item 445429	NM_006494.4(ERF):c.879del (p.Ser295fs)	ERF (S220fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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