Related gene-specific medical variations for Gene (Select 9227) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246735	NC_000004.11:g.(?_155665577)_(155668060_?)del	LRAT	Deletion	not provided	GPathogenic
Select item 3246734	NC_000004.11:g.(?_155665479)_(155666038_?)del	LRAT	Deletion	not provided	GPathogenic
Select item 3246733	NC_000004.11:g.(?_155665479)_(155670288_?)del	LRAT	Deletion	not provided	GPathogenic
Select item 2920628	NM_004744.5(LRAT):c.556A>C (p.Lys186Gln)	LRAT (K186Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 14	GUncertain significance

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