C3151138[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 841656	NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)	USH2A (P4378L)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 48570	NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)	USH2A (P2267L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 48615	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A (H308fs)	Duplication (frameshift variant)	Retinitis pigmentosa +7 more	GPathogenic

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