Related gene-specific medical variations for Gene (Select 51230) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599580	NM_016436.5(PHF20):c.890C>T (p.Pro297Leu)	PHF20 (P297L)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599579	NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn)	PHF20 (D865N)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 394420	GRCh37/hg19 20q11.22-11.23(chr20:34398769-34541525)x3	PHF20	Copy number gain	See cases	GUncertain significance

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