Related gene-specific medical variations for Gene (Select 126805714) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042239	NM_014747.3(RIMS3):c.700G>A (p.Gly234Ser)	LOC126805714, RIMS3 (G234S)	Single nucleotide variant (missense variant)	RIMS3-related condition	GLikely benign
Select item 3041447	NM_014747.3(RIMS3):c.619G>A (p.Ala207Thr)	LOC126805714, RIMS3 (A207T)	Single nucleotide variant (missense variant)	RIMS3-related condition	GBenign
Select item 3039796	NM_014747.3(RIMS3):c.507C>A (p.Gly169=)	LOC126805714, RIMS3	Single nucleotide variant (synonymous variant)	RIMS3-related condition	GLikely benign
Select item 3038872	NM_014747.3(RIMS3):c.553C>G (p.Pro185Ala)	LOC126805714, RIMS3 (P185A)	Single nucleotide variant (missense variant)	RIMS3-related condition	GBenign
Select item 3033602	NM_014747.3(RIMS3):c.642C>A (p.Thr214=)	LOC126805714, RIMS3	Single nucleotide variant (synonymous variant)	RIMS3-related condition	GBenign
Select item 2323220	NM_014747.3(RIMS3):c.487G>A (p.Ala163Thr)	LOC126805714, RIMS3 (A163T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319415	NM_014747.3(RIMS3):c.658C>T (p.Pro220Ser)	LOC126805714, RIMS3 (P220S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar