C0035334[trait identifier] AND "Center for Medical Genetics Ghent, Uni - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 253021	NM_018191.4(RCBTB1):c.1202C>T (p.Ser401Leu)	RCBTB1 (S401L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253020	NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe)	RCBTB1 (L388F +1 more)	Single nucleotide variant (missense variant +1 more)	RCBTB1-related retinopathy +1 more	GPathogenic/Likely pathogenic
Select item 253019	NM_018191.4(RCBTB1):c.1151A>G (p.His384Arg)	RCBTB1 (H384R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253018	NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr)	RCBTB1 (H325Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 253017	NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys)	RCBTB1 (W310C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 253016	NM_018191.4(RCBTB1):c.919G>A (p.Val307Met)	RCBTB1 (V307M +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic

ClinVar