"GeneReviews"[submitter] AND "PPP2R5D"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217455	NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser)	PPP2R5D (P53S)	Single nucleotide variant (5 prime UTR variant +2 more)	Hogue-Janssens syndrome 1	GPathogenic
Select item 217913	NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys)	PPP2R5D (E197K +3 more)	Single nucleotide variant (missense variant)	PPP2R5D-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 190286	NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	MEA1, PPP2R5D (E198K +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +6 more	GPathogenic
Select item 217456	NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)	PPP2R5D (E200K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 190287	NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg)	PPP2R5D (P201R +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 217457	NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg)	PPP2R5D (W207R +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 217912	NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys)	PPP2R5D (E420K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic

ClinVar