"Ambry Genetics"[submitter] AND "GPR52"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2280807	NM_005684.5(GPR52):c.13A>G (p.Arg5Gly)	GPR52, RABGAP1L (R5G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282412	NM_005684.5(GPR52):c.14G>A (p.Arg5Lys)	GPR52, RABGAP1L (R5K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531582	NM_005684.5(GPR52):c.82C>T (p.Pro28Ser)	GPR52, RABGAP1L (P28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282411	NM_005684.5(GPR52):c.233A>G (p.Tyr78Cys)	GPR52, RABGAP1L (Y78C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101789	NM_005684.5(GPR52):c.250G>C (p.Ala84Pro)	GPR52, RABGAP1L (A84P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524913	NM_005684.5(GPR52):c.314C>T (p.Ser105Phe)	GPR52, RABGAP1L (S105F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101790	NM_005684.5(GPR52):c.368T>C (p.Val123Ala)	GPR52, RABGAP1L (V123A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266002	NM_005684.5(GPR52):c.416G>A (p.Arg139His)	GPR52, RABGAP1L (R139H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610312	NM_005684.5(GPR52):c.474G>C (p.Leu158Phe)	GPR52, RABGAP1L (L158F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101791	NM_005684.5(GPR52):c.509G>C (p.Cys170Ser)	GPR52, RABGAP1L (C170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549221	NM_005684.5(GPR52):c.701C>T (p.Thr234Ile)	GPR52, RABGAP1L (T234I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101792	NM_005684.5(GPR52):c.773G>A (p.Ser258Asn)	GPR52, RABGAP1L (S258N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249704	NM_005684.5(GPR52):c.773G>T (p.Ser258Ile)	GPR52, RABGAP1L (S258I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228594	NM_005684.5(GPR52):c.781C>T (p.Arg261Cys)	GPR52, RABGAP1L (R261C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282413	NM_005684.5(GPR52):c.890C>G (p.Thr297Ser)	GPR52, RABGAP1L (T297S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101788	NM_005684.5(GPR52):c.1001C>A (p.Thr334Lys)	GPR52, RABGAP1L (T334K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance