"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976155	NM_001015877.2(PHF6):c.585+1G>A	PHF6	Single nucleotide variant (splice donor variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 983069	NM_001015877.2(PHF6):c.802G>C (p.Val268Leu)	PHF6 (V268L +1 more)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic