C1838603[trait identifier] AND "Genomics England Pilot Project, Genomi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99663	NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	TULP1 (K489R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1184552	NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr)	TULP1 (P303T +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 14	GPathogenic
Select item 1184553	NC_000006.12:g.35506278_35506281del	TULP1	Deletion	Retinitis pigmentosa 14	GPathogenic

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