"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CEP290"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99864	NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)	CEP290, RLIG1 (L2448fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 14 +7 more	GPathogenic/Likely pathogenic
Select item 1076473	NM_025114.4(CEP290):c.7341del (p.Lys2447fs)	CEP290, RLIG1 (K2447fs)	Deletion (frameshift variant +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 663263	NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)	CEP290, RLIG1 (V2445fs)	Microsatellite (frameshift variant +1 more)	Meckel-Gruber syndrome +8 more	GPathogenic/Likely pathogenic
Select item 856893	NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)	CEP290, RLIG1 (E2443fs)	Microsatellite (frameshift variant +1 more)	Leber congenital amaurosis 10 +8 more	GPathogenic
Select item 1071910	NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)	CEP290, RLIG1 (E2442*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 6 +7 more	GPathogenic/Likely pathogenic
Select item 286991	NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del)	CEP290, RLIG1 (K2437del)	Microsatellite (inframe_deletion +1 more)	Bardet-Biedl syndrome 14 +8 more	GUncertain significance
Select item 956518	NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)	CEP290, RLIG1 (Y2429*)	Duplication (nonsense +1 more)	Familial aplasia of the vermis +7 more	GPathogenic/Likely pathogenic
Select item 1387697	NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)	CEP290, RLIG1 (E2422*)	Duplication (nonsense +1 more)	Meckel-Gruber syndrome +7 more	GPathogenic/Likely pathogenic
Select item 848929	NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)	CEP290, RLIG1 (E2412fs)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 10 +7 more	GPathogenic/Likely pathogenic
Select item 1401493	NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)	CEP290 (Q2400E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 1339724	NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)	CEP290 (Q2400*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +8 more	GPathogenic/Likely pathogenic
Select item 855629	NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)	CEP290 (T2390R)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 842877	NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)	CEP290	Deletion (nonsense)	Bardet-Biedl syndrome 14 +7 more	GPathogenic/Likely pathogenic
Select item 1636374	NM_025114.4(CEP290):c.7130-16A>G	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 1604537	NM_025114.4(CEP290):c.7129+8A>G	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +7 more	GLikely benign
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 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 1037092	NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)	CEP290 (E2329G)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +8 more	GUncertain significance
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 704696	NM_025114.4(CEP290):c.6960+9C>T	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +7 more	GLikely 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 156386	NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)	CEP290 (N2290fs)	Duplication (frameshift variant)	Retinal dystrophy +9 more	GPathogenic
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 497937	NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)	CEP290 (W2266*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 10 +10 more	GPathogenic
Select item 1104695	NM_025114.4(CEP290):c.6697T>C (p.Leu2233=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 1133052	NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +7 more	GLikely benign
Select item 377291	NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)	CEP290 (R2210H)	Single nucleotide variant (missense variant)	Retinal dystrophy +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 1400631	NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser)	CEP290 (R2208S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 197597	NM_025114.4(CEP290):c.6604del (p.Ile2202fs)	CEP290 (I2202fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14 +10 more	GPathogenic/Likely pathogenic
Select item 959829	NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)	CEP290 (H2191L)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +8 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 1060028	NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile)	CEP290 (M2190I)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1647150	NM_025114.4(CEP290):c.6523-17_6523-15del	CEP290	Deletion (intron variant)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 811589	NM_025114.4(CEP290):c.6477T>A (p.Thr2159=)	CEP290	Single nucleotide variant (synonymous variant)	not specified +8 more	GLikely benign
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 943767	NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)	CEP290 (L2151W)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
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 461787	NM_025114.4(CEP290):c.6358-1G>A	CEP290	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 5 +7 more	GLikely 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 217621	NM_025114.4(CEP290):c.6277del (p.Val2093fs)	CEP290, LOC129390514	Deletion (frameshift variant)	Meckel-Gruber syndrome +8 more	GPathogenic/Likely pathogenic
Select item 1095623	NM_025114.4(CEP290):c.6271-15C>T	CEP290, LOC129390514	Single nucleotide variant (intron variant)	Nephronophthisis +7 more	GLikely benign
Select item 1576785	NM_025114.4(CEP290):c.6270+19A>G	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 1120913	NM_025114.4(CEP290):c.6256T>C (p.Leu2086=)	CEP290	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 6 +7 more	GLikely benign
Select item 806916	NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile)	CEP290 (L2079I)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +8 more	GUncertain significance
Select item 965941	NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)	CEP290 (I2073T)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +7 more	GUncertain significance
Select item 1077912	NM_025114.4(CEP290):c.6150G>A (p.Glu2050=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 990681	NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg)	CEP290 (G2048R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +8 more	GUncertain significance
Select item 1120629	NM_025114.4(CEP290):c.6135+10T>C	CEP290	Single nucleotide variant (intron variant)	Senior-Loken syndrome 6 +7 more	GLikely benign
Select item 806917	NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly)	CEP290 (E2033G)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +8 more	GUncertain significance
Select item 1612998	NM_025114.4(CEP290):c.6027T>C (p.Leu2009=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 281249	NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)	CEP290 (I2000V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +10 more	GUncertain significance
Select item 952982	NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala)	CEP290 (V1974A)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +7 more	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 56740	NM_025114.4(CEP290):c.5850del (p.Phe1950fs)	CEP290 (F1950fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14 +7 more	GPathogenic
Select item 99861	NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)	CEP290 (T1938fs)	Microsatellite (frameshift variant)	not provided +8 more	GPathogenic
Select item 1408836	NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp)	CEP290 (E1935D)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 990683	NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)	CEP290 (R1926Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 659046	NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)	CEP290 (R1926P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +9 more	GPathogenic/Likely pathogenic
Select item 1015660	NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu)	CEP290 (W1918L)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
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 99860	NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)	CEP290 (L1884fs)	Duplication (frameshift variant)	Familial aplasia of the vermis +7 more	GPathogenic
Select item 166831	NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)	CEP290 (Q1871fs)	Deletion (frameshift variant)	Senior-Loken syndrome 6 +8 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 817139	NM_025114.4(CEP290):c.5580del (p.Leu1861fs)	CEP290 (L1861fs)	Deletion (frameshift variant)	Nephronophthisis +8 more	GPathogenic
Select item 1014096	NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile)	CEP290 (K1851I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 310594	NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)	CEP290 (D1848G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 1017868	NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)	CEP290 (S1808N)	Single nucleotide variant (missense variant)	CEP290-related disorder +8 more	GUncertain significance
Select item 990687	NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)	CEP290 (L1799V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
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 310595	NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)	CEP290 (V1780I)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +8 more	GUncertain significance
Select item 881296	NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)	CEP290 (R1762H)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 197084	NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)	CEP290 (R1762C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +10 more	GUncertain significance
Select item 657546	NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)	CEP290 (A1743V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 1164289	NM_025114.4(CEP290):c.5227-23dup	CEP290	Duplication (intron variant)	Senior-Loken syndrome 6 +7 more	GBenign/Likely benign
Select item 855645	NM_025114.4(CEP290):c.5226+5_5226+8del	CEP290	Microsatellite (splice donor variant)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 1577131	NM_025114.4(CEP290):c.5211G>A (p.Lys1737=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 421248	NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)	CEP290 (R1729W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +9 more	GUncertain significance
Select item 422365	NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys)	CEP290 (N1715K)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1042483	NM_025114.4(CEP290):c.5013G>C (p.Gln1671His)	CEP290 (Q1671H)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1637392	NM_025114.4(CEP290):c.5013-30CA[5]	CEP290	Microsatellite (intron variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 695953	NM_025114.4(CEP290):c.5012+10C>T	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +8 more	GLikely benign
Select item 497762	NM_025114.4(CEP290):c.5012+2T>C	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14 +8 more	GLikely pathogenic
Select item 572652	NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)	CEP290 (E1656fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14 +10 more	GPathogenic
Select item 241585	NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 4 +7 more	GConflicting classifications of pathogenicity
Select item 217635	NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	CEP290 (Q1628*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +13 more	GPathogenic
Select item 1160808	NM_025114.4(CEP290):c.4881A>G (p.Glu1627=)	CEP290	Single nucleotide variant (synonymous variant)	Joubert syndrome 5 +7 more	GLikely benign
Select item 1696401	NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)	CEP290 (R1622H)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +9 more	GUncertain significance
Select item 310599	NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)	CEP290 (K1618N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 530920	NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala)	CEP290 (P1613A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +9 more	GUncertain significance
Select item 837918	NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)	CEP290 (L1606S)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 432415	NM_025114.4(CEP290):c.4813-2A>G	CEP290	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +10 more	GPathogenic/Likely pathogenic
Select item 991335	NM_025114.4(CEP290):c.4812+6A>T	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +8 more	GUncertain significance
Select item 1116742	NM_025114.4(CEP290):c.4809T>C (p.Ala1603=)	CEP290	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 10 +7 more	GLikely benign
Select item 635087	NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	CEP290 (K1598fs)	Microsatellite (frameshift variant)	Joubert syndrome 5 +5 more	GPathogenic/Likely pathogenic
Select item 1331227	NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val)	CEP290 (E1579V)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +5 more	GUncertain significance
Select item 1339	NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	CEP290 (K1575*)	Single nucleotide variant (nonsense)	CEP290-related ciliopathy +13 more	GPathogenic
Select item 1575927	NM_025114.4(CEP290):c.4705-7A>G	CEP290	Single nucleotide variant (intron variant)	Leber congenital amaurosis 10 +7 more	GLikely benign
Select item 261846	NM_025114.4(CEP290):c.4705-18C>T	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +8 more	GLikely benign
Select item 1416635	NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)	CEP290 (A1566V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GUncertain significance

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