"PreventionGenetics, part of Exact Sciences"[submitter] AND "ERF"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052000	NM_006494.4(ERF):c.1535A>G (p.Lys512Arg)	ERF (K437R +1 more)	Single nucleotide variant (missense variant)	ERF-related disorder	GUncertain significance
Select item 476629	NM_006494.4(ERF):c.840G>A (p.Ser280=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis +1 more	GBenign/Likely benign
Select item 771555	NM_006494.4(ERF):c.659C>A (p.Pro220His)	ERF (P220H +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis +1 more	GBenign/Likely benign
Select item 3045186	NM_006494.4(ERF):c.615C>T (p.Arg205=)	ERF	Single nucleotide variant (synonymous variant)	ERF-related disorder	GLikely benign
Select item 1937352	NM_006494.4(ERF):c.408G>A (p.Pro136=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis +1 more	GBenign
Select item 3047901	NM_006494.4(ERF):c.399G>A (p.Pro133=)	ERF	Single nucleotide variant (synonymous variant)	ERF-related disorder	GLikely benign
Select item 55925	NM_006494.4(ERF):c.256C>T (p.Arg86Cys)	ERF (R86C +1 more)	Single nucleotide variant (missense variant)	Craniosynostosis 4 +3 more	GConflicting classifications of pathogenicity
Select item 2632995	NM_006494.4(ERF):c.70T>G (p.Ser24Ala)	ERF (S24A)	Single nucleotide variant (5 prime UTR variant +1 more)	ERF-related disorder	GUncertain significance

ClinVar