"Revvity Omics, Revvity"[submitter] AND "PHF6"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434685	NM_001015877.2(PHF6):c.369T>G (p.Ile123Met)	PHF6 (I123M)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2432598	NM_001015877.2(PHF6):c.376delinsCC (p.Val126fs)	PHF6 (V126fs)	Indel (frameshift variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 1324890	NM_001015877.2(PHF6):c.931_932del (p.Lys310_Ala311insTer)	PHF6	Deletion (nonsense)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic

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