"Ambry Genetics"[submitter] AND "LOC130066285"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309468	NM_006242.4(PPP1R3D):c.148G>C (p.Ala50Pro)	FAM217B, LOC130066285 +1 more (A50P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477352	NM_006242.4(PPP1R3D):c.121T>G (p.Cys41Gly)	FAM217B, LOC130066285 +1 more (C41G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262413	NM_006242.4(PPP1R3D):c.119C>G (p.Ala40Gly)	FAM217B, LOC130066285 +1 more (A40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217678	NM_006242.4(PPP1R3D):c.94G>C (p.Gly32Arg)	FAM217B, LOC130066285 +1 more (G32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309469	NM_006242.4(PPP1R3D):c.85G>T (p.Asp29Tyr)	FAM217B, LOC130066285 +1 more (D29Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358899	NM_006242.4(PPP1R3D):c.83C>T (p.Ser28Leu)	FAM217B, LOC130066285 +1 more (S28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217677	NM_006242.4(PPP1R3D):c.80T>G (p.Leu27Arg)	FAM217B, LOC130066285 +1 more (L27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217675	NM_006242.4(PPP1R3D):c.64C>T (p.Arg22Trp)	FAM217B, LOC130066285 +1 more (R22W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515364	NM_006242.4(PPP1R3D):c.64C>G (p.Arg22Gly)	FAM217B, LOC130066285 +1 more (R22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272460	NM_006242.4(PPP1R3D):c.43G>A (p.Gly15Arg)	FAM217B, LOC130066285 +1 more (G15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance