"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166828	NM_025114.4(CEP290):c.6522+5dup	CEP290	Duplication (intron variant)	Nephronophthisis +11 more	GBenign
Select item 283803	NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)	CEP290 (D2039G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +9 more	GUncertain significance
Select item 126262	NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	CEP290 (R1746Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +11 more	GBenign/Likely benign
Select item 217626	NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	CEP290 (R1465*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 10 +9 more	GPathogenic
Select item 950504	NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)	CEP290 (R1271*)	Single nucleotide variant (nonsense)	Meckel syndrome, type 4 +4 more	GPathogenic
Select item 99850	NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)	CEP290 (I1059fs)	Duplication (frameshift variant)	CEP290-related disorder +6 more	GPathogenic
Select item 220050	NM_025114.4(CEP290):c.2484-18GTTTT[4]	CEP290	Microsatellite (intron variant)	Renal dysplasia and retinal aplasia +7 more	GConflicting classifications of pathogenicity
Select item 126249	NM_025114.4(CEP290):c.2268A>G (p.Ser756=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +7 more	GBenign
Select item 166839	NM_025114.4(CEP290):c.853-12_853-11insG	CEP290	Insertion (intron variant)	Nephronophthisis +11 more	GBenign