"Natera, Inc."[submitter] AND "CRB1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1067703	NM_201253.3(CRB1):c.71-2A>G	CRB1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
Select item 961858	NM_201253.3(CRB1):c.97A>G (p.Arg33Gly)	CRB1 (R33G)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 418147	NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)	CRB1 (C45W)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 767049	NM_201253.3(CRB1):c.156T>C (p.Asn52=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 972523	NM_201253.3(CRB1):c.200G>C (p.Cys67Ser)	CRB1 (C67S)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1116131	NM_201253.3(CRB1):c.207C>T (p.Asn69=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1019290	NM_201253.3(CRB1):c.245G>A (p.Ser82Asn)	CRB1 (S13N +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 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 835535	NM_201253.3(CRB1):c.269G>A (p.Gly90Glu)	CRB1 (G21E +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 989643	NM_201253.3(CRB1):c.285G>C (p.Leu95=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
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 99909	NM_201253.3(CRB1):c.430T>G (p.Phe144Val)	CRB1 (F144V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GConflicting classifications of pathogenicity
Select item 736229	NM_201253.3(CRB1):c.447C>T (p.His149=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GBenign
Select item 989644	NM_201253.3(CRB1):c.479G>A (p.Gly160Glu)	CRB1 (G160E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 957510	NM_201253.3(CRB1):c.512C>G (p.Ser171Cys)	CRB1 (S171C +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 195442	NM_201253.3(CRB1):c.600A>G (p.Thr200=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Pigmented paravenous retinochoroidal atrophy +4 more	GConflicting classifications of pathogenicity
Select item 99913	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	CRB1 (I136fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +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 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 +6 more	GConflicting classifications of pathogenicity
Select item 844140	NM_201253.3(CRB1):c.679G>A (p.Glu227Lys)	CRB1 (E158K +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1055391	NM_201253.3(CRB1):c.745G>A (p.Asp249Asn)	CRB1 (D180N +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1093598	NM_201253.3(CRB1):c.763C>T (p.Leu255=)	CRB1	Single nucleotide variant (non-coding transcript variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
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 728366	NM_201253.3(CRB1):c.825G>A (p.Gly275=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 851127	NM_201253.3(CRB1):c.839G>A (p.Gly280Glu)	CRB1 (G211E +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 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)	Leber congenital amaurosis 8 +3 more	GLikely benign
Select item 876210	NM_201253.3(CRB1):c.867G>A (p.Thr289=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Pigmented paravenous retinochoroidal atrophy +4 more	GConflicting classifications of pathogenicity
Select item 841050	NM_201253.3(CRB1):c.892T>C (p.Cys298Arg)	CRB1 (C298R +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 743091	NM_201253.3(CRB1):c.957T>C (p.Ser319=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
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 989645	NM_201253.3(CRB1):c.988+10A>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis	GUncertain significance
Select item 763047	NM_201253.3(CRB1):c.1014C>T (p.Ile338=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 733582	NM_201253.3(CRB1):c.1014C>A (p.Ile338=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +4 more	GLikely benign
Select item 1063399	NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu)	CRB1 (P235L +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 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)	CRB1-related disorder +4 more	GLikely benign
Select item 862560	NM_201253.3(CRB1):c.1086A>T (p.Gln362His)	CRB1 (Q250H +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 971419	NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys)	CRB1 (R253C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 966671	NM_201253.3(CRB1):c.1094G>A (p.Arg365His)	CRB1 (R253H +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 944544	NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu)	CRB1 (I297L +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 960139	NM_201253.3(CRB1):c.1172-3C>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +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 618046	NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)	CRB1 (T431I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 723794	NM_201253.3(CRB1):c.1428C>G (p.Thr476=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
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 793539	NM_201253.3(CRB1):c.1431G>A (p.Gly477=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
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 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 760190	NM_201253.3(CRB1):c.1452C>T (p.Thr484=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 287584	NM_201253.3(CRB1):c.1470C>T (p.Gly490=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 710792	NM_201253.3(CRB1):c.1479C>T (p.Phe493=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GBenign
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)	Retinal dystrophy +4 more	GPathogenic
Select item 1026045	NM_201253.3(CRB1):c.1636A>G (p.Ile546Val)	CRB1 (I434V +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1011090	NM_201253.3(CRB1):c.1660G>T (p.Val554Leu)	CRB1 (V442L +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1105332	NM_201253.3(CRB1):c.1746A>G (p.Leu582=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 294672	NM_201253.3(CRB1):c.1752C>T (p.Asp584=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +4 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 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 1026149	NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile)	CRB1 (T509I +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 636015	NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)	CRB1 (Y631C +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 945191	NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)	CRB1 (D649N +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GUncertain significance
Select item 711424	NM_201253.3(CRB1):c.1977G>A (p.Ser659=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely 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 1025263	NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn)	CRB1 (S566N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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)	not provided +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 1021412	NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser)	CRB1 (N577S +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
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 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 294675	NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)	CRB1 (F742S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 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
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +5 more	GPathogenic/Likely pathogenic
Select item 852584	NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu)	CRB1 (P748L +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 290001	NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)	CRB1 (S758C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 943083	NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala)	CRB1 (T647A +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1143653	NM_201253.3(CRB1):c.2286T>C (p.Tyr762=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 166958	NM_201253.3(CRB1):c.2291G>A (p.Arg764His)	CRB1 (R764H +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 840207	NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)	CRB1 (L655P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +3 more	GPathogenic/Likely pathogenic
Select item 949549	NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys)	CRB1 (R657C +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 99878	NM_201253.3(CRB1):c.2306G>A (p.Arg769His)	CRB1 (R769H +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +6 more	GBenign/Likely benign
Select item 294677	NM_201253.3(CRB1):c.2307C>T (p.Arg769=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 236478	NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	CRB1 (G770S +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1158242	NM_201253.3(CRB1):c.2316A>G (p.Leu772=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 5736	NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	CRB1 (K801* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GPathogenic
Select item 989646	NM_201253.3(CRB1):c.2403G>A (p.Lys801=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1018187	NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser)	CRB1 (P690S +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 843620	NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)	CRB1 (I718F +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GUncertain significance
Select item 427127	NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)	CRB1 (G834D +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GPathogenic/Likely pathogenic
Select item 750591	NM_201253.3(CRB1):c.2538A>T (p.Gly846=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GBenign
Select item 846967	NM_201253.3(CRB1):c.2563G>A (p.Val855Ile)	CRB1 (V743I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1008914	NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu)	CRB1 (P756L +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 438076	NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)	CRB1 (N880S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GConflicting classifications of pathogenicity
Select item 294680	NM_201253.3(CRB1):c.2677-8C>T	CRB1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 99887	NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)	CRB1 (N894S +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +4 more	GConflicting classifications of pathogenicity

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