"Clinical Genetics, Academic Medical Center"[submitter] AND "CEP290"[g - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 310589	NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	CEP290 (D2396Y)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +9 more	GConflicting classifications of pathogenicity
Select item 261849	NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	CEP290 (I1836V)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +9 more	GConflicting classifications of pathogenicity
Select item 1164289	NM_025114.4(CEP290):c.5227-23dup	CEP290	Duplication (intron variant)	Meckel-Gruber syndrome +7 more	GBenign/Likely benign
Select item 1339	NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	CEP290 (K1575*)	Single nucleotide variant (nonsense)	Blindness +13 more	GPathogenic
Select item 241584	NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)	CEP290 (I1519L)	Single nucleotide variant (missense variant)	CEP290-related disorder +10 more	GUncertain significance
Select item 1148588	NM_025114.4(CEP290):c.4438-7A>G	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GLikely benign
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 196714	NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	CEP290	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 14 +10 more	GConflicting classifications of pathogenicity
Select item 99850	NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)	CEP290 (I1059fs)	Duplication (frameshift variant)	CEP290-related disorder +6 more	GPathogenic
Select item 1337	NM_025114.4(CEP290):c.2991+1655A>G	CEP290	Single nucleotide variant (intron variant)	Leber congenital amaurosis 10 +12 more	GPathogenic/Likely pathogenic
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 1015064	NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)	CEP290 (V758A)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 235609	NM_025114.4(CEP290):c.1825-17CT[2]	CEP290	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 388113	NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	CEP290	Single nucleotide variant (synonymous variant)	Joubert syndrome 5 +8 more	GConflicting classifications of pathogenicity
Select item 1299958	NM_025114.4(CEP290):c.1712-6A>G	CEP290	Single nucleotide variant (intron variant)	CEP290-related disorder +3 more	GLikely benign
Select item 136727	NM_025114.4(CEP290):c.1624-5T>C	CEP290	Single nucleotide variant (intron variant)	Kidney disorder +9 more	GConflicting classifications of pathogenicity
Select item 194563	NM_025114.4(CEP290):c.1522+6C>T	CEP290	Single nucleotide variant (intron variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 99863	NM_025114.4(CEP290):c.679_680del (p.Glu227fs)	CEP290 (E227fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +7 more	GPathogenic
Select item 198265	NM_025114.4(CEP290):c.341G>A (p.Arg114His)	CEP290 (R114H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 235736	NM_025114.4(CEP290):c.251-11T>A	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +9 more	GConflicting classifications of pathogenicity

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Items: 20