Related gene-specific medical variations for Gene (Select 5949) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435386	NM_002900.3(RBP3):c.1412C>A (p.Thr471Lys)	RBP3 (T471K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 931420	NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr)	RBP3 (I930T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 866610	NM_002900.3(RBP3):c.2570A>C (p.His857Pro)	RBP3 (H857P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866609	NM_002900.3(RBP3):c.3452C>T (p.Ala1151Val)	RBP3 (A1151V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 813084	NM_002900.3(RBP3):c.467G>C (p.Trp156Ser)	RBP3 (W156S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 813083	NM_002900.3(RBP3):c.3050T>A (p.Met1017Lys)	RBP3 (M1017K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 806463	NM_002900.3(RBP3):c.2133G>C (p.Glu711Asp)	RBP3 (E711D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar