"Baylor Genetics"[submitter] AND "PPP2R5D"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034257	NM_006245.4(PPP2R5D):c.101A>C (p.Glu34Ala)	PPP2R5D (E34A)	Single nucleotide variant (5 prime UTR variant +2 more)	Hogue-Janssens syndrome 1 +1 more	GUncertain significance
Select item 1034258	NM_006245.4(PPP2R5D):c.160T>C (p.Ser54Pro)	PPP2R5D (S54P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 2582373	NM_006245.4(PPP2R5D):c.478C>T (p.Arg160Cys)	PPP2R5D (R128C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 982374	NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)	PPP2R5D (Q105P +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1028495	NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr)	MEA1, PPP2R5D (H556Y +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic

ClinVar