C5394208[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931157	NM_178857.6(RP1L1):c.5929G>C (p.Val1977Leu)	RP1L1 (V1977L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88	GUncertain significance
Select item 931152	NM_178857.6(RP1L1):c.5929G>A (p.Val1977Ile)	RP1L1 (V1977I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 522779	NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs)	RP1L1 (V1336fs)	Insertion (frameshift variant)	Retinitis pigmentosa 88 +1 more	GConflicting classifications of pathogenicity
Select item 931528	NM_178857.6(RP1L1):c.3203G>A (p.Cys1068Tyr)	RP1L1 (C1068Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88	GUncertain significance
Select item 931164	NM_178857.6(RP1L1):c.2720C>T (p.Ala907Val)	RP1L1 (A907V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88	GUncertain significance
Select item 2193	NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	RP1L1 (R45W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GConflicting classifications of pathogenicity

ClinVar