ClinVar for MedGen (Select 334499) - 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 812398	NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr)	RLBP1 (I201T)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 378479	NM_000326.5(RLBP1):c.684+20C>T	RLBP1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 317237	NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln)	RLBP1 (R216Q)	Single nucleotide variant (missense variant)	Newfoundland cone-rod dystrophy +4 more	GUncertain significance
Select item 191289	NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)	RLBP1	Deletion (inframe_deletion)	Abnormality of the eye +3 more	GPathogenic/Likely pathogenic
Select item 13100	NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)	RLBP1 (R234W)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic

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