"GeneDx"[submitter] AND "PPP1R3A"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8706	NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr)	PPP1R3A (D905Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1231102	NM_002711.4(PPP1R3A):c.2645T>A (p.Leu882His)	PPP1R3A (L882H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1297972	NM_002711.4(PPP1R3A):c.1428T>A (p.Asn476Lys)	PPP1R3A (N476K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1233474	NM_002711.4(PPP1R3A):c.1351G>A (p.Val451Met)	PPP1R3A (V451M)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GBenign
Select item 1232764	NM_002711.4(PPP1R3A):c.967-76A>G	PPP1R3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269565	NM_002711.4(PPP1R3A):c.967-82G>A	PPP1R3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259481	NM_002711.4(PPP1R3A):c.783-140C>A	PPP1R3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281819	NM_002711.4(PPP1R3A):c.783-287A>G	PPP1R3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236771	NC_000007.14:g.113919134G>A	PPP1R3A	Single nucleotide variant	not provided	GBenign
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic