C1857779[trait identifier] AND "New York Genome Center"[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2096383	NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)	CEP290 (K2386E +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +6 more	GUncertain significance
Select item 290046	NM_025114.4(CEP290):c.6645+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 56739	NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	CEP290 (A1832fs)	Deletion (frameshift variant)	not provided +14 more	GPathogenic
Select item 197084	NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)	CEP290 (R1762C)	Single nucleotide variant (missense variant)	CEP290-related condition +11 more	GUncertain significance
Select item 883696	NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)	CEP290 (R1729Q)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +8 more	GUncertain significance
Select item 696308	NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)	CEP290 (T1722A)	Single nucleotide variant (missense variant)	CEP290-related condition +8 more	GConflicting classifications of pathogenicity
Select item 2502208	NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)	CEP290	Indel (inframe_indel)	Leber congenital amaurosis 10 +3 more	GUncertain significance
Select item 834384	NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)	CEP290 (N1258S)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1983493	NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)	CEP290 (R144Q +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +7 more	GUncertain significance
Select item 241583	NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	CEP290 (V851I)	Single nucleotide variant (missense variant)	CEP290-related condition +10 more	GConflicting classifications of pathogenicity
Select item 841820	NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)	CEP290 (L749F)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +6 more	GUncertain significance
Select item 310614	NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	CEP290 (E725A)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 695268	NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)	CEP290 (A697G)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 96169	NM_025114.4(CEP290):c.2068A>C (p.Asn690His)	CEP290 (N690H)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +8 more	GUncertain significance
Select item 310616	NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	CEP290 (K636N)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +8 more	GConflicting classifications of pathogenicity
Select item 418122	NM_025114.4(CEP290):c.1670G>A (p.Arg557His)	CEP290 (R557H)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 858976	NM_025114.4(CEP290):c.1624-5T>G	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +6 more	GConflicting classifications of pathogenicity
Select item 1493024	NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser)	CEP290 (A398S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +6 more	GUncertain significance
Select item 2502259	NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]	CEP290	Single nucleotide variant (intron variant)	Joubert syndrome 5 +3 more	GUncertain significance
Select item 434741	NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)	CEP290 (D272N)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +10 more	GUncertain significance
Select item 881099	NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)	CEP290 (T224I)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +8 more	GConflicting classifications of pathogenicity
Select item 198264	NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	CEP290 (N115D)	Single nucleotide variant (missense variant)	CEP290-related condition +11 more	GConflicting classifications of pathogenicity
Select item 845228	NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)	CEP290 (N27D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +6 more	GUncertain significance

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Items: 23