ClinVar for MedGen (Select 400670) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373994	NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)	CEP290 (Q981*)	Single nucleotide variant (nonsense)	Blindness +5 more	GPathogenic/Likely pathogenic
Select item 1339	NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	CEP290 (K1575*)	Single nucleotide variant (nonsense)	CEP290-related ciliopathy +14 more	GPathogenic