"GeneDx"[submitter] AND "CEP290"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261823	NM_025114.4(CEP290):c.19_22del	CEP290, RLIG1	Deletion (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 1307943	NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs)	CEP290, RLIG1 (E2471fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GUncertain significance
Select item 372319	NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)	CEP290, RLIG1 (E2465fs)	Microsatellite (frameshift variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 966453	NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs)	CEP290, RLIG1 (E2465fs)	Insertion (frameshift variant +1 more)	not provided +3 more	GUncertain significance
Select item 866908	NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)	CEP290, RLIG1 (K2447T)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +5 more	GUncertain significance
Select item 310586	NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)	CEP290, RLIG1 (D2426N)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 4 +9 more	GUncertain significance
Select item 418123	NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)	CEP290, RLIG1 (K2407fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 14 +9 more	GPathogenic/Likely pathogenic
Select item 2175602	NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln)	CEP290, RLIG1 (K2408Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +5 more	GUncertain significance
Select item 386272	NM_025114.4(CEP290):c.7219A>C (p.Lys2407Gln)	CEP290, RLIG1 (K2407Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1208688	NM_025114.4(CEP290):c.7213G>A (p.Glu2405Lys)	CEP290, RLIG1 (E2405K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 126268	NM_025114.4(CEP290):c.7210-22T>C	RLIG1, CEP290	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1203284	NM_025114.4(CEP290):c.7210-303T>G	CEP290, RLIG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2498047	NM_025114.4(CEP290):c.7198_7209del (p.Gln2400_Lys2403del)	CEP290	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 310589	NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	CEP290 (D2396Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 1196725	NM_025114.4(CEP290):c.7130-73G>A	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238850	NM_025114.4(CEP290):c.7130-129A>G	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206952	NM_025114.4(CEP290):c.7129+157T>C	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204629	NM_025114.4(CEP290):c.7129+105A>G	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265941	NM_025114.4(CEP290):c.7129+73del	CEP290	Deletion (intron variant)	not provided	GBenign
Select item 424602	NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)	CEP290 (E2357G)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 126267	NM_025114.4(CEP290):c.7035-38C>G	CEP290	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1327262	NM_025114.4(CEP290):c.7035-140T>C	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196171	NM_025114.4(CEP290):c.7034+275G>A	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222020	NM_025114.4(CEP290):c.7034+272C>A	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259667	NM_025114.4(CEP290):c.7034+41dup	CEP290	Duplication (intron variant)	not provided	GBenign
Select item 387416	NM_025114.4(CEP290):c.7034+10G>A	CEP290	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 968717	NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)	CEP290 (R2339W)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 515387	NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg)	CEP290 (Q2335R)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 681349	NM_025114.4(CEP290):c.6961-138A>T	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678616	NM_025114.4(CEP290):c.6960+257T>C	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258569	NM_025114.4(CEP290):c.6960+64A>G	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391224	NM_025114.4(CEP290):c.6960+10G>A	CEP290	Single nucleotide variant (intron variant)	Joubert syndrome 5 +8 more	GBenign/Likely benign
Select item 967666	NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)	CEP290 (N2314S)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +9 more	GUncertain significance
Select item 1945470	NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)	CEP290 (V2310D)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 391617	NM_025114.4(CEP290):c.6882T>C (p.Thr2294=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +3 more	GLikely benign
Select item 1306789	NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr)	CEP290 (A2287T)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +8 more	GUncertain significance
Select item 143156	NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	CEP290 (S2263G)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +11 more	GConflicting classifications of pathogenicity
Select item 1282026	NM_025114.4(CEP290):c.6646-275T>C	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217618	NM_025114.4(CEP290):c.6645+211C>T	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235344	NM_025114.4(CEP290):c.6645+184T>A	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209819	NM_025114.4(CEP290):c.6645+67G>A	CEP290	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 290046	NM_025114.4(CEP290):c.6645+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 420090	NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)	CEP290 (R2210C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +9 more	GUncertain significance
Select item 1489455	NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)	CEP290 (H2191D)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +8 more	GUncertain significance
Select item 166828	NM_025114.4(CEP290):c.6522+5dup	CEP290	Duplication (intron variant)	Bardet-Biedl syndrome +11 more	GBenign
Select item 374598	NM_025114.4(CEP290):c.6516del (p.Lys2172fs)	CEP290 (K2172fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1699523	NM_025114.4(CEP290):c.6469A>G (p.Ile2157Val)	CEP290 (I2157V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855145	NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)	CEP290 (Q2150fs)	Deletion (frameshift variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 197574	NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)	CEP290 (L2151S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 423525	NM_025114.4(CEP290):c.6444T>A (p.Asn2148Lys)	CEP290 (N2148K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166829	NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	CEP290 (I2134T)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 461788	NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)	CEP290 (E2131G)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +8 more	GConflicting classifications of pathogenicity
Select item 503613	NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)	CEP290 (R2122*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +1 more	GPathogenic/Likely pathogenic
Select item 381161	NM_025114.4(CEP290):c.6358-4G>A	CEP290	Single nucleotide variant (intron variant)	Senior-Loken syndrome 6 +8 more	GLikely benign
Select item 1218640	NM_025114.4(CEP290):c.6358-291C>A	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 126266	NM_025114.4(CEP290):c.6357+20A>T	CEP290, LOC129390514	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +4 more	GBenign
Select item 2505040	NM_025114.4(CEP290):c.6322G>T (p.Ala2108Ser)	CEP290, LOC129390514 (A2108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980920	NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr)	CEP290, LOC129390514 (K2104T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 217621	NM_025114.4(CEP290):c.6277del (p.Val2093fs)	CEP290, LOC129390514	Deletion (frameshift variant)	Meckel-Gruber syndrome +8 more	GPathogenic/Likely pathogenic
Select item 1178947	NM_025114.4(CEP290):c.6270+248T>C	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 420349	NM_025114.4(CEP290):c.6270+18del	CEP290	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1308844	NM_025114.4(CEP290):c.6245C>T (p.Ala2082Val)	CEP290 (A2082V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314322	NM_025114.4(CEP290):c.6230T>C (p.Phe2077Ser)	CEP290 (F2077S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388995	NM_025114.4(CEP290):c.6145A>G (p.Ile2049Val)	CEP290 (I2049V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 261850	NM_025114.4(CEP290):c.6136-19T>G	CEP290	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 1199885	NM_025114.4(CEP290):c.6136-109C>T	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193135	NM_025114.4(CEP290):c.6136-123G>A	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251913	NM_025114.4(CEP290):c.6136-182dup	CEP290	Duplication (intron variant)	not provided	GBenign
Select item 1185808	NM_025114.4(CEP290):c.6136-254G>C	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388319	NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 283803	NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)	CEP290 (D2039G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +8 more	GUncertain significance
Select item 386950	NM_025114.4(CEP290):c.6092C>A (p.Ala2031Asp)	CEP290 (A2031D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 860862	NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His)	CEP290 (Y2024H)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 451500	NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val)	CEP290 (A2008V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1199022	NM_025114.4(CEP290):c.6012-98C>T	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192985	NM_025114.4(CEP290):c.6011+160_6011+161insAT	CEP290	Insertion (intron variant)	not provided	GLikely benign
Select item 422423	NM_025114.4(CEP290):c.5973G>C (p.Lys1991Asn)	CEP290 (K1991N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972051	NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)	CEP290 (R1962K)	Single nucleotide variant (missense variant)	Retinal dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 2573848	NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)	CEP290 (Q1942*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +1 more	GPathogenic
Select item 635021	NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)	CEP290 (R1926*)	Single nucleotide variant (nonsense)	Joubert syndrome 5 +5 more	GPathogenic/Likely pathogenic
Select item 310591	NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)	CEP290 (I1922L)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +8 more	GConflicting classifications of pathogenicity
Select item 1192024	NM_025114.4(CEP290):c.5710-159C>T	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 126265	NM_025114.4(CEP290):c.5709+45G>C	CEP290	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 126264	NM_025114.4(CEP290):c.5709+25A>C	CEP290	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 126263	NM_025114.4(CEP290):c.5709+18C>A	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +4 more	GBenign
Select item 1333	NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	CEP290 (G1890*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +13 more	GPathogenic/Likely pathogenic
Select item 681518	NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)	CEP290 (E1889Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2000349	NM_025114.4(CEP290):c.5614del (p.Ser1872fs)	CEP290 (S1872fs)	Deletion (frameshift variant)	Meckel-Gruber syndrome +3 more	GPathogenic
Select item 636006	NM_025114.4(CEP290):c.5587-1G>C	CEP290	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 14 +9 more	GPathogenic
Select item 1183855	NM_025114.4(CEP290):c.5587-98A>G	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817139	NM_025114.4(CEP290):c.5580del (p.Leu1861fs)	CEP290 (L1861fs)	Deletion (frameshift variant)	Nephronophthisis +8 more	GPathogenic
Select item 1197763	NM_025114.4(CEP290):c.5570T>C (p.Leu1857Pro)	CEP290 (L1857P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166832	NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys)	CEP290 (E1841K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 3364620	NM_025114.4(CEP290):c.5510T>A (p.Leu1837His)	CEP290 (L1837H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261849	NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	CEP290 (I1836V)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 56739	NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	CEP290 (A1832fs)	Deletion (frameshift variant)	Polycystic kidney disease +14 more	GPathogenic
Select item 530918	NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)	CEP290 (E1812fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 14 +5 more	GPathogenic
Select item 217636	NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	CEP290 (R1782*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +8 more	GPathogenic
Select item 197085	NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	CEP290	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 14 +10 more	GConflicting classifications of pathogenicity
Select item 166833	NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln)	CEP290 (R1752Q)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign

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