C3151202[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1283919	NM_201253.3(CRB1):c.20_23del (p.Asn7fs)	CRB1 (N7fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa +2 more	GPathogenic
Select item 546619	NM_201253.3(CRB1):c.29T>C (p.Leu10Pro)	CRB1 (L10P)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 871211	NM_201253.3(CRB1):c.57dup (p.Ile20fs)	CRB1 (I20fs)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8 +3 more	GPathogenic
Select item 1210393	NM_201253.3(CRB1):c.70+1G>T	CRB1	Single nucleotide variant (intron variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
Select item 96660	NM_201253.3(CRB1):c.71-12A>T	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +5 more	GBenign
Select item 2672264	NM_201253.3(CRB1):c.71delA	CRB1 (N24fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 1395276	NM_201253.3(CRB1):c.127T>C (p.Ser43Pro)	CRB1 (S43P)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GUncertain significance
Select item 1275767	NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)	CRB1	Deletion (nonsense +2 more)	Retinitis pigmentosa 12 +2 more	GPathogenic
Select item 418147	NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)	CRB1 (C45W)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +4 more	GUncertain significance
Select item 419132	NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)	CRB1 (N18* +1 more)	Microsatellite (nonsense +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic
Select item 970366	NM_201253.3(CRB1):c.263C>T (p.Thr88Ile)	CRB1 (T88I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1210390	NM_201253.3(CRB1):c.291del (p.Lys97fs)	CRB1 (K28fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
Select item 195443	NM_201253.3(CRB1):c.351C>G (p.Asn117Lys)	CRB1 (N117K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GUncertain significance
Select item 1013813	NM_201253.3(CRB1):c.355T>G (p.Cys119Gly)	CRB1 (C119G +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GUncertain significance
Select item 294667	NM_201253.3(CRB1):c.371T>A (p.Ile124Asn)	CRB1 (I124N +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 812296	NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)	CRB1 (C83Y +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866384	NM_201253.3(CRB1):c.506del (p.Gly169fs)	CRB1 (G169fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +4 more	GPathogenic/Likely pathogenic
Select item 1079916	NM_201253.3(CRB1):c.579T>C (p.Asp193=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +3 more	GLikely benign
Select item 265083	NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	CRB1 (C195F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +5 more	GPathogenic/Likely pathogenic
Select item 99913	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	CRB1 (I136fs +1 more)	Deletion (frameshift variant +1 more)	not provided +6 more	GPathogenic
Select item 99914	NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)	CRB1 (I205T +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +4 more	GConflicting classifications of pathogenicity
Select item 1055115	NM_201253.3(CRB1):c.635G>T (p.Cys212Phe)	CRB1 (C143F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 965648	NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)	CRB1 (C143Y +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 1484059	NM_201253.3(CRB1):c.652+1G>A	CRB1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 1068463	NM_201253.3(CRB1):c.653-1G>A	CRB1	Single nucleotide variant (splice acceptor variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic/Likely pathogenic
Select item 866627	NM_201253.3(CRB1):c.653-1G>T	CRB1	Single nucleotide variant (splice acceptor variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GPathogenic/Likely pathogenic
Select item 844387	NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer)	CRB1	Microsatellite (nonsense +2 more)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 294668	NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)	CRB1 (E222K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 623711	NM_201253.3(CRB1):c.713C>A (p.Thr238Asn)	CRB1 (T238N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 866804	NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)	CRB1 (C197S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 287179	NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)	CRB1 (A267fs +1 more)	Indel (frameshift variant +2 more)	not provided +2 more	GPathogenic
Select item 1172727	NM_201253.3(CRB1):c.849-62T>G	CRB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 263260	NM_201253.3(CRB1):c.849-35T>C	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +4 more	GBenign
Select item 1213985	NM_201253.3(CRB1):c.862T>C (p.Cys288Arg)	CRB1 (C219R +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 1219932	NM_201253.3(CRB1):c.863G>T (p.Cys288Phe)	CRB1 (C219F +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 99917	NM_201253.3(CRB1):c.866C>T (p.Thr289Met)	CRB1 (T289M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GLikely benign
Select item 866628	NM_201253.3(CRB1):c.914G>C (p.Cys305Ser)	CRB1 (C305S +1 more)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GUncertain significance
Select item 963279	NM_201253.3(CRB1):c.976C>T (p.His326Tyr)	CRB1 (H257Y +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 801594	NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)	CRB1 (W259* +1 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 1 +2 more	GPathogenic
Select item 1177043	NM_201253.3(CRB1):c.989-53T>G	CRB1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1301835	NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)	CRB1 (G221R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GPathogenic/Likely pathogenic
Select item 1210392	NM_201253.3(CRB1):c.998del (p.Gly333fs)	CRB1 (G221fs +2 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
Select item 733582	NM_201253.3(CRB1):c.1014C>A (p.Ile338=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +3 more	GLikely benign
Select item 424924	NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys)	CRB1 (N341K +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 766807	NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala)	CRB1 (S359A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 620109	NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)	CRB1 (Q362* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic
Select item 866126	NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro)	CRB1 (S302P +2 more)	Indel (missense variant +1 more)	Retinal dystrophy +3 more	GUncertain significance
Select item 866778	NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)	CRB1 (Y375* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 872032	NM_201253.3(CRB1):c.1149dup (p.Ile384fs)	CRB1 (I315fs +2 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 99866	NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	CRB1 (C383Y +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GPathogenic/Likely pathogenic
Select item 285386	NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)	CRB1 (C394* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic
Select item 2062304	NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)	CRB1 (S402P +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 1199331	NM_201253.3(CRB1):c.1204T>G (p.Ser402Ala)	CRB1 (S290A +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 797793	NM_201253.3(CRB1):c.1206T>C (p.Ser402=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GLikely benign
Select item 860631	NM_201253.3(CRB1):c.1305A>T (p.Gly435=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +3 more	GBenign/Likely benign
Select item 801595	NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)	CRB1 (C326Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 865858	NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)	CRB1 (C450R +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +3 more	GLikely pathogenic
Select item 2202907	NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)	CRB1 (G454R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GConflicting classifications of pathogenicity
Select item 955768	NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)	CRB1 (Q392* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 166956	NM_201253.3(CRB1):c.1410A>G (p.Leu470=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +4 more	GBenign
Select item 444188	NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)	CRB1 (T476A +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GUncertain significance
Select item 866829	NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	CRB1 (G477R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 446253	NM_201253.3(CRB1):c.1431del (p.Ser478fs)	CRB1 (S409fs +2 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +3 more	GPathogenic
Select item 866833	NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)	CRB1 (L367P +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GPathogenic/Likely pathogenic
Select item 99870	NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)	CRB1 (C480R +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +4 more	GPathogenic/Likely pathogenic
Select item 973360	NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del)	CRB1	Deletion (inframe_deletion +1 more)	Retinitis pigmentosa 12 +2 more	GLikely pathogenic
Select item 1008091	NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala)	CRB1 (T372A +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GUncertain significance
Select item 1426475	NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn)	CRB1 (D379N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 294671	NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)	CRB1 (T503A +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 166957	NM_201253.3(CRB1):c.1533C>T (p.Ala511=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +5 more	GConflicting classifications of pathogenicity
Select item 143167	NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)	CRB1 (R526* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 1989360	NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)	CRB1 (Y472C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 286767	NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg)	CRB1 (W567R +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 1492209	NM_201253.3(CRB1):c.1708G>A (p.Val570Met)	CRB1 (V501M +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GUncertain significance
Select item 1396683	NM_201253.3(CRB1):c.1732G>C (p.Val578Leu)	CRB1 (V578L +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 1074871	NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)	CRB1 (S474fs +2 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic/Likely pathogenic
Select item 1438550	NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu)	CRB1 (D516E +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 867150	NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)	CRB1 (C522fs +2 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 190991	NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)	CRB1 (A595T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1076789	NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)	CRB1 (S499P +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 1514726	NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal)	CRB1	Duplication (inframe_insertion +1 more)	Cone-rod dystrophy +3 more	GUncertain significance
Select item 933277	NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)	CRB1 (G502V +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 812299	NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)	CRB1 (G615V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866666	NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser)	CRB1 (P525S +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GUncertain significance
Select item 1022330	NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu)	CRB1 (P525L +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GUncertain significance
Select item 287672	NM_201253.3(CRB1):c.1986A>G (p.Ser662=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 763390	NM_201253.3(CRB1):c.1995T>C (p.Asn665=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 99873	NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu)	CRB1 (Q679E +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GUncertain significance
Select item 99874	NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	CRB1 (C681Y +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic
Select item 874427	NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)	CRB1 (R617C +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GConflicting classifications of pathogenicity
Select item 289997	NM_201253.3(CRB1):c.2103C>G (p.Pro701=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 294674	NM_201253.3(CRB1):c.2128+15A>C	CRB1	Single nucleotide variant (intron variant)	Pigmented paravenous retinochoroidal atrophy +4 more	GBenign/Likely benign
Select item 438073	NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	CRB1 (E710V +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +4 more	GPathogenic/Likely pathogenic
Select item 872033	NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)	CRB1 (Y612C +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 289846	NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr)	CRB1 (S732T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +3 more	GUncertain significance
Select item 99876	NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)	CRB1 (M741T +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GPathogenic/Likely pathogenic
Select item 216912	NM_201253.3(CRB1):c.2227G>C (p.Val743Leu)	CRB1 (V743L +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely pathogenic
Select item 635155	NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	CRB1 (R744* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +3 more	GPathogenic/Likely pathogenic
Select item 294676	NM_201253.3(CRB1):c.2230C>A (p.Arg744=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 968342	NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)	CRB1 (R632Q +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GUncertain significance

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