Related gene-specific medical variations for Gene (Select 5253) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689690	NM_005392.4(PHF2):c.854G>T (p.Arg285Leu)	PHF2 (R285L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689689	NM_005392.4(PHF2):c.1958C>T (p.Pro653Leu)	PHF2 (P653L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429884	NM_005392.4(PHF2):c.3142G>A (p.Val1048Ile)	PHF2 (V1048I)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429883	NM_005392.4(PHF2):c.1923C>G (p.Asn641Lys)	PHF2 (N641K)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 1676525	NM_005392.4(PHF2):c.2749C>T (p.Gln917Ter)	PHF2 (Q917*)	Single nucleotide variant	not provided	GLikely pathogenic
Select item 993631	NM_005392.4(PHF2):c.2857_2858del (p.Lys953fs)	PHF2 (K953fs)	Deletion (frameshift variant)	not provided	GUncertain significance

ClinVar