"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250289	NC_000015.10:g.(?_89210284)_(89211902_89215059)del	RLBP1	Deletion	Retinal dystrophy	GPathogenic
Select item 1489065	NM_000326.5(RLBP1):c.827del (p.Phe276fs)	RLBP1 (F276fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 281739	NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)	RLBP1 (F182C)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 92847	NM_000326.5(RLBP1):c.303C>T (p.Arg101=)	RLBP1	Single nucleotide variant (synonymous variant)	Pigmentary retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 191289	NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)	RLBP1	Deletion (inframe_deletion)	Bothnia retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1039109	NM_000326.5(RLBP1):c.212A>G (p.Gln71Arg)	RLBP1 (Q71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3249616	NM_000326.5(RLBP1):c.115C>A (p.Gln39Lys)	RLBP1 (Q39K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

ClinVar