"Clinical Genetics, Academic Medical Center"[submitter] AND "PHF6"[gen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 594571	NM_001015877.2(PHF6):c.139-11_139-7del	PHF6	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1266610	NM_001015877.2(PHF6):c.241-13C>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GBenign
Select item 135031	NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys)	PHF6 (R163C +1 more)	Single nucleotide variant (missense variant)	PHF6-related condition +1 more	GConflicting classifications of pathogenicity

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ClinVar