"Ambry Genetics"[submitter] AND "PPP1R7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2261938	NM_002712.3(PPP1R7):c.148G>C (p.Asp50His)	PPP1R7 (D50H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217714	NM_002712.3(PPP1R7):c.161G>T (p.Arg54Leu)	PPP1R7 (R38L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217715	NM_002712.3(PPP1R7):c.310T>C (p.Cys104Arg)	PPP1R7 (C88R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362630	NM_002712.3(PPP1R7):c.337A>G (p.Ile113Val)	PPP1R7 (I113V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217716	NM_002712.3(PPP1R7):c.472G>A (p.Glu158Lys)	PPP1R7 (E158K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286841	NM_002712.3(PPP1R7):c.535A>G (p.Ile179Val)	PPP1R7 (I136V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226631	NM_002712.3(PPP1R7):c.689C>T (p.Thr230Ile)	PPP1R7 (T214I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239480	NM_002712.3(PPP1R7):c.860A>G (p.Lys287Arg)	PPP1R7 (K228R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar