C5394208[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 361237	NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter)	RP1L1 (Q1941*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 88 +3 more	GConflicting classifications of pathogenicity
Select item 1678613	NM_178857.6(RP1L1):c.2380G>T (p.Glu794Ter)	RP1L1 (E794*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 88	GLikely pathogenic