Related gene-specific medical variations for Gene (Select 23418) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338301	NM_201253.3(CRB1):c.401G>T (p.Cys134Phe)	CRB1 (C134F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 3247806	NC_000001.10:g.(?_197404386)_(197410804_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3247805	NC_000001.10:g.(?_197297532)_(197411442_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3247804	NC_000001.10:g.(?_197237543)_(197237632_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3247803	NC_000001.10:g.(?_197237543)_(197447009_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3241220	NM_201253.3(CRB1):c.2842+1G>A	CRB1	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241219	NM_201253.3(CRB1):c.3755dup (p.Ser1252fs)	CRB1 (S1140fs +3 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241218	NM_201253.3(CRB1):c.1292_1295delinsGG (p.Thr431fs)	CRB1 (T319fs +2 more)	Indel (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241217	NM_201253.3(CRB1):c.863del (p.Cys288fs)	CRB1 (C219fs +1 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241216	NM_201253.3(CRB1):c.413_417del (p.Ala138fs)	CRB1 (A138fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241215	NM_201253.3(CRB1):c.573_577del (p.Asp193fs)	CRB1 (D124fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241214	NM_201253.3(CRB1):c.988+1G>T	CRB1	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 8	GPathogenic
Select item 3241213	NM_201253.3(CRB1):c.3429C>A (p.Cys1143Ter)	CRB1 (C1031* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241212	NM_201253.3(CRB1):c.2408dup (p.Tyr803Ter)	CRB1 (Y691* +2 more)	Duplication (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241211	NM_201253.3(CRB1):c.3335del (p.Asn1112fs)	CRB1 (N1000fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241210	NM_201253.3(CRB1):c.3023T>G (p.Leu1008Ter)	CRB1 (L1008* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GPathogenic
Select item 3241209	NM_201253.3(CRB1):c.3750-3_3750-2del	CRB1	Deletion (splice acceptor variant)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3064718	NM_201253.3(CRB1):c.1421G>A (p.Gly474Asp)	CRB1 (G362D +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 2920616	NM_201253.3(CRB1):c.1523_1525del (p.Cys508_Asn509delinsTyr)	CRB1	Deletion (inframe_indel +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2920615	NM_201253.3(CRB1):c.1106T>C (p.Leu369Pro)	CRB1 (L257P +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy	GLikely pathogenic
Select item 2680998	NM_201253.3(CRB1):c.1268del (p.Cys423fs)	CRB1 (C311fs +2 more)	Deletion (non-coding transcript variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680997	NM_201253.3(CRB1):c.2536G>T (p.Gly846Ter)	CRB1 (G734* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GPathogenic
Select item 2680996	NM_201253.3(CRB1):c.721del (p.Asp241fs)	CRB1 (D172fs +1 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680995	NM_201253.3(CRB1):c.3318T>G (p.Tyr1106Ter)	CRB1 (Y1082* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680994	NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter)	CRB1 (S637* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680993	NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)	CRB1 (Q223* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680992	NM_201253.3(CRB1):c.1633delinsAA (p.Ser545fs)	CRB1 (S433fs +2 more)	Indel (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680991	NM_201253.3(CRB1):c.3847del (p.Cys1283fs)	CRB1 (C1171fs +3 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680990	NM_201253.3(CRB1):c.1219C>T (p.Gln407Ter)	CRB1 (Q295* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680989	NM_201253.3(CRB1):c.2832del (p.Gly945fs)	CRB1 (G833fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680988	NM_201253.3(CRB1):c.2570_2574del (p.Leu857fs)	CRB1 (L745fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680987	NM_201253.3(CRB1):c.3620_3630delinsGACA (p.Thr1207fs)	CRB1 (T1095fs +2 more)	Indel (non-coding transcript variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680985	NM_201253.3(CRB1):c.2704del (p.Cys902fs)	CRB1 (C790fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680984	NM_201253.3(CRB1):c.3712T>C (p.Cys1238Arg)	CRB1 (C1126R +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680983	NM_201253.3(CRB1):c.3961del (p.Cys1321fs)	CRB1 (C1209fs +3 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680981	NM_201253.3(CRB1):c.2676+1G>A	CRB1	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680980	NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter)	CRB1 (Q567* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680979	NM_201253.3(CRB1):c.2981_2982del (p.Lys994fs)	CRB1 (K882fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GPathogenic
Select item 2680978	NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)	CRB1 (M1029V +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680977	NM_201253.3(CRB1):c.894_895del (p.Cys298_Glu299delinsTer)	CRB1	Microsatellite (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680975	NM_201253.3(CRB1):c.1901del (p.Pro634fs)	CRB1 (P522fs +2 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680974	NM_201253.3(CRB1):c.1665dup (p.Leu556fs)	CRB1 (L444fs +2 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680973	NM_201253.3(CRB1):c.679G>T (p.Glu227Ter)	CRB1 (E158* +1 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680972	NM_201253.3(CRB1):c.456T>A (p.Cys152Ter)	CRB1 (C152* +1 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680971	NM_201253.3(CRB1):c.3343_3352del (p.Gly1115fs)	CRB1 (G1003fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GPathogenic
Select item 2680970	NM_201253.3(CRB1):c.3673_3674dup (p.Asn1225fs)	CRB1 (N1113fs +2 more)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680969	NM_201253.3(CRB1):c.712dup (p.Thr238fs)	CRB1 (T169fs +1 more)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680967	NM_201253.3(CRB1):c.2785_2787delinsTG (p.Gly929fs)	CRB1 (G817fs +2 more)	Indel (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680966	NM_201253.3(CRB1):c.2677-1G>T	CRB1	Single nucleotide variant (splice acceptor variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680965	NM_201253.3(CRB1):c.848+2T>C	CRB1	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680963	NM_201253.3(CRB1):c.1465G>T (p.Glu489Ter)	CRB1 (E377* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8	GPathogenic
Select item 2680962	NM_201253.3(CRB1):c.3415C>T (p.Gln1139Ter)	CRB1 (Q1027* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680960	NM_201253.3(CRB1):c.1426del (p.Thr476fs)	CRB1 (T364fs +2 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680959	NM_201253.3(CRB1):c.139del (p.Asp47fs)	CRB1 (D47fs)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GPathogenic
Select item 2680958	NM_201253.3(CRB1):c.3749+1G>C	CRB1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680957	NM_201253.3(CRB1):c.1078G>T (p.Glu360Ter)	CRB1 (E248* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680956	NM_201253.3(CRB1):c.3194del (p.Thr1065fs)	CRB1 (T1041fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680955	NM_201253.3(CRB1):c.918G>A (p.Trp306Ter)	CRB1 (W237* +1 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2680950	NM_201253.3(CRB1):c.2096_2100dup (p.Pro701fs)	CRB1 (P589fs +2 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 2664016	NM_201253.3(CRB1):c.3874G>C (p.Glu1292Gln)	CRB1 (E1180Q +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy	GUncertain significance
Select item 2440537	NM_201253.3(CRB1):c.3275G>A (p.Gly1092Asp)	CRB1 (G1068D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1801405	NM_201253.3(CRB1):c.989-2014_989-1973del	CRB1	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1527504	GRCh37/hg19 1q31.3(chr1:197202740-197266535)	CRB1	Copy number gain	not specified	GUncertain significance
Select item 993404	NM_201253.3(CRB1):c.2486T>A (p.Val829Asp)	CRB1 (V717D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 989649	NM_201253.3(CRB1):c.4165T>C (p.Ser1389Pro)	CRB1 (S1277P +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis	GUncertain significance
Select item 989648	NM_201253.3(CRB1):c.3521G>C (p.Cys1174Ser)	CRB1 (C1062S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis	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 987281	NM_201253.3(CRB1):c.2914G>T (p.Glu972Ter)	CRB1 (E860* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 987002	NM_201253.3(CRB1):c.3541T>A (p.Cys1181Ser)	CRB1 (C1069S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 986905	NM_201253.3(CRB1):c.2812C>T (p.Gln938Ter)	CRB1 (Q826* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 975375	NM_201253.3(CRB1):c.2873G>A (p.Ser958Asn)	CRB1 (S846N +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GLikely benign
Select item 931806	NM_201253.3(CRB1):c.699T>A (p.Cys233Ter)	CRB1 (C164* +1 more)	Single nucleotide variant (nonsense +2 more)	Pigmented paravenous retinochoroidal atrophy	GPathogenic
Select item 931559	NM_201253.3(CRB1):c.2708_2709del (p.His903fs)	CRB1 (H903fs +2 more)	Deletion (frameshift variant +2 more)	Pigmented paravenous retinochoroidal atrophy	GLikely pathogenic
Select item 930440	NM_201253.3(CRB1):c.527C>T (p.Pro176Leu)	CRB1 (P176L +1 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy	GUncertain significance
Select item 930439	NM_201253.3(CRB1):c.523G>A (p.Val175Ile)	CRB1 (V106I +1 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy	GUncertain significance
Select item 870263	Single allele	CRB1	Insertion	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 867214	NM_201253.3(CRB1):c.201_202del (p.Cys67_Asp68delinsTer)	CRB1	Microsatellite (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 867210	NM_201253.3(CRB1):c.2676+1G>T	CRB1	Single nucleotide variant (splice donor variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 867209	NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter)	CRB1 (W1010* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 867178	NM_201253.3(CRB1):c.2138C>T (p.Ala713Val)	CRB1 (A601V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 867145	NM_201253.3(CRB1):c.629G>T (p.Cys210Phe)	CRB1 (C210F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 867118	NM_201253.3(CRB1):c.2834G>A (p.Gly945Glu)	CRB1 (G833E +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866950	NM_201253.3(CRB1):c.3522_3523del (p.Cys1174_Glu1175delinsTer)	CRB1	Microsatellite (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 866914	NM_201253.3(CRB1):c.3239T>C (p.Ile1080Thr)	CRB1 (I968T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866912	NM_201253.3(CRB1):c.2092T>C (p.Cys698Arg)	CRB1 (C629R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866828	NM_201253.3(CRB1):c.2294T>C (p.Val765Ala)	CRB1 (V653A +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866717	NM_201253.3(CRB1):c.2521A>C (p.Thr841Pro)	CRB1 (T841P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866665	NM_201253.3(CRB1):c.2671T>C (p.Cys891Arg)	CRB1 (C779R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866651	NM_201253.3(CRB1):c.2956A>T (p.Asn986Tyr)	CRB1 (N874Y +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866629	NM_201253.3(CRB1):c.1640A>C (p.Gln547Pro)	CRB1 (Q547P +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866526	NM_201253.3(CRB1):c.2632C>T (p.Leu878Phe)	CRB1 (L809F +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866525	NM_201253.3(CRB1):c.3506G>A (p.Trp1169Ter)	CRB1 (W1145* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 866455	NM_201253.3(CRB1):c.872G>A (p.Ser291Asn)	CRB1 (S291N +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866373	NM_201253.3(CRB1):c.2416G>T (p.Glu806Ter)	CRB1 (E694* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +1 more	GPathogenic
Select item 866294	NM_201253.3(CRB1):c.3880T>C (p.Cys1294Arg)	CRB1 (C1294R +3 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866205	NM_201253.3(CRB1):c.1181G>A (p.Cys394Tyr)	CRB1 (C394Y +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 813174	NM_201253.3(CRB1):c.1171+2T>G	CRB1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 813173	NM_201253.3(CRB1):c.803_806del (p.Ser268fs)	CRB1 (S268fs +1 more)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa	GPathogenic
Select item 813172	NM_201253.3(CRB1):c.733del (p.Ala245fs)	CRB1 (A245fs +1 more)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa	GPathogenic
Select item 813171	NM_201253.3(CRB1):c.3934T>A (p.Cys1312Ser)	CRB1 (C1288S +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GPathogenic

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