Related gene-specific medical variations for Gene (Select 6017) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065593	NM_000326.5(RLBP1):c.203del (p.Glu68fs)	RLBP1 (E68fs)	Deletion (frameshift variant)	Bothnia retinal dystrophy	GLikely pathogenic
Select item 3064717	NM_000326.5(RLBP1):c.467G>A (p.Arg156Gln)	RLBP1 (R156Q)	Single nucleotide variant (missense variant)	Bothnia retinal dystrophy	GUncertain significance
Select item 3064481	NM_000326.5(RLBP1):c.341T>C (p.Leu114Pro)	RLBP1 (L114P)	Single nucleotide variant (missense variant)	Bothnia retinal dystrophy	GLikely pathogenic
Select item 2582763	NM_000326.5(RLBP1):c.433C>A (p.Pro145Thr)	RLBP1 (P145T)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy	GUncertain significance
Select item 979018	NM_000326.4:c.(525+1_526+1)_(*418_?)del	RLBP1	Deletion	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 813213	NM_000326.5(RLBP1):c.255_258dup (p.Arg87fs)	RLBP1 (R87fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic

ClinVar