Related gene-specific medical variations for Gene (Select 116443) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217821	NM_147180.4(PPP3R2):c.508G>A (p.Val170Ile)	GRIN3A, PPP3R2 (V170I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217820	NM_147180.4(PPP3R2):c.247A>T (p.Ser83Cys)	GRIN3A, PPP3R2 (S83C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217819	NM_147180.4(PPP3R2):c.155A>C (p.Asn52Thr)	GRIN3A, PPP3R2 (N52T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2689166	NM_133445.3(GRIN3A):c.1744G>T (p.Asp582Tyr)	GRIN3A (D582Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2463114	NM_147180.4(PPP3R2):c.449T>C (p.Phe150Ser)	GRIN3A, PPP3R2 (F150S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402261	NM_147180.4(PPP3R2):c.400G>T (p.Asp134Tyr)	GRIN3A, PPP3R2 (D134Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383059	NM_147180.4(PPP3R2):c.86A>G (p.Lys29Arg)	GRIN3A, PPP3R2 (K29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373794	NM_147180.4(PPP3R2):c.140C>G (p.Pro47Arg)	GRIN3A, PPP3R2 (P47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359339	NM_147180.4(PPP3R2):c.196G>A (p.Gly66Ser)	GRIN3A, PPP3R2 (G66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344432	NM_147180.4(PPP3R2):c.145C>G (p.Leu49Val)	GRIN3A, PPP3R2 (L49V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226346	NM_147180.4(PPP3R2):c.-5C>G	GRIN3A, PPP3R2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2210300	NM_147180.4(PPP3R2):c.187G>A (p.Asp63Asn)	GRIN3A, PPP3R2 (D63N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance