"SIB Swiss Institute of Bioinformatics"[submitter] AND "PPP2CA"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 620081	NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup)	PPP2CA	Duplication (inframe_insertion +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 620082	NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys)	PPP2CA (Y265C +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 692146	NM_002715.4(PPP2CA):c.668A>T (p.Asp223Val)	PPP2CA (D158V +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 692145	NM_002715.4(PPP2CA):c.667G>C (p.Asp223His)	PPP2CA (D158H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 70140	NM_002715.4(PPP2CA):c.640C>T (p.Arg214Ter)	PPP2CA (R214* +1 more)	Single nucleotide variant (nonsense +1 more)	Houge-Janssens syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 620078	NM_002715.4(PPP2CA):c.572A>G (p.His191Arg)	PPP2CA (H191R +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 692144	NM_002715.4(PPP2CA):c.391G>C (p.Asp131His)	PPP2CA (D131H +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 692148	NM_002715.4(PPP2CA):c.380A>G (p.Tyr127Cys)	PPP2CA (Y127C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 620080	NM_002715.4(PPP2CA):c.373C>T (p.Gln125Ter)	PPP2CA (Q125* +1 more)	Single nucleotide variant (nonsense +1 more)	Houge-Janssens syndrome 3	GPathogenic
Select item 692147	NM_002715.4(PPP2CA):c.366G>C (p.Gln122His)	PPP2CA (Q122H +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 620083	NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly)	PPP2CA (D88G +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GPathogenic/Likely pathogenic
Select item 692143	NM_002715.4(PPP2CA):c.179G>T (p.Gly60Val)	PPP2CA (G60V)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 3	GUncertain significance