"SIB Swiss Institute of Bioinformatics"[submitter] AND "CEP250"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 620659	NM_007186.6(CEP250):c.361C>T (p.Arg121Ter)	CEP250 (R121*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cone-rod dystrophy and hearing loss 2	GPathogenic
Select item 620660	NM_007186.6(CEP250):c.562C>T (p.Arg188Ter)	CEP250 (R188*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 859101	NM_007186.6(CEP250):c.1826C>T (p.Ala609Val)	CEP250, CEP250-AS1 (A609V)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 620661	NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter)	CEP250 (K1113* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy and hearing loss 2	GLikely pathogenic
Select item 620658	NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)	CEP250 (R1155* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy and hearing loss 2	GLikely pathogenic
Select item 620662	NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)	CEP250 (R1336* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar