Clinvar数据库查找变异位点相关的文章
我想在Clinvar数据库里面找RAB33A基因，突变位点为c.-264-u6020C>G可能致病的相关所有文章。我打不开这个数据库，最好能把这个变异位点的信息截图看一下。
我能打开这个基因库，兄弟私信交流一下。
这是cDNA上的一小段位点由C核苷酸突变到G核苷酸了。暂时没有相关的文献资料。
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB33A%5Bgene%5D
GeneCustomize this list. ..Clinical significance #位点的临床致病性
Conflictinginterpretations(22)Benign(26)Likely benign(40)Uncertain significance(80)Likelypathogenic(64)Pathogenic(125)#只想要看致病的位点，点这个即可^Risk
factor (O)Review status #证据的准确性Practice guideline(O)Expert panel (O)Multiplesubmitters(77)Single submitter(116)At least one star(215)Conflicting
interpretations(22)Allele origin # allele的来源Germline(226)De
novo(2)Somatic(O)Method type #位点的报道方式Research(7)Literatureonly(77)Clinical testing(238)Molecular consequence #分子水平的信息Frameshift (26)Missense(129)Nonsense(18)Splice site(2)ncRNA(O)Neargene(2)UTR(31)Variation type #突变类型
Deletion(36)Duplication(29)Indel(3)Insertion(10)Single
nucleotide(203)ComplexityHaplotype(3)Compound heterozygote(0)Phase
unknown(O)Distinct chromosomes(0)Simple(266)Variant lengthLess than 51bp(235)Between 51 and 1000 bp(0)Between 1 and 50 kb(0)Between 50 and 500
lkcb(2)Between 500 kb and 1 Mb(O)Between 1 and 5 Mb(4)Greater than 5 Mb(16)Variant-gene relationshipSingle gene(238)In overlapping genes(0)Spans multiple
genes(30)Multiple genes(31)
没有这个c.-264-u6020C>G的文章
Name Gene(s) Protein change Condition(s) Clinical significance (Last reviewed) Review status Accession GRCh37Chromosome GRCh37Location GRCh38Chromosome GRCh38Location VariationID AlleleID(s) dbSNP ID Canonical SPDI
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His) AIFM1|RAB33A Y560H, Y556H, Y221H Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162483 X 129264037 X 130130062 162483 172146 rs724160024 NC_000023.11:130130061:A:G
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val) AIFM1|RAB33A A549V, A545V, A210V Leukodystrophy|Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy Likely pathogenic(Last reviewed: Jan 1, 2016) criteria provided, single submitter VCV000373913 X 129264069 X 130130094 373913 361079 rs761953453 NC_000023.11:130130093:G:A
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met) AIFM1|RAB33A V498M, V159M, V494M Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162482 X 129265731 X 130131756 162482 172147 rs724160023 NC_000023.11:130131755:C:T
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu) AIFM1|RAB33A P475L, P471L, P136L Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162481 X 129267312 X 130133337 162481 172148 rs724160022 NC_000023.11:130133336:G:A
NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val) AIFM1|RAB33A A440V, A101V, A436V Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162484 X 129267417 X 130133442 162484 172149 rs724160025 NC_000023.11:130133441:G:A
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) AIFM1|RAB33A R422Q, R83Q, R418Q Deafness, X-linked 5 Pathogenic/Likely pathogenic(Last reviewed: Aug 1, 2015) no assertion criteria provided VCV000162480 X 129270060 X 130136085 162480 172150 rs724160021 NC_000023.11:130136084:C:T
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) AIFM1|RAB33A R422W, R418W, R83W Deafness, X-linked 5 Pathogenic/Likely pathogenic(Last reviewed: Aug 1, 2015) no assertion criteria provided VCV000162479 X 129270061 X 130136086 162479 172151 rs724160020 NC_000023.11:130136085:G:A
NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr) AIFM1|RAB33A P402T, P63T, P398T not provided Likely pathogenic(Last reviewed: Oct 10, 2017) criteria provided, single submitter VCV000430466 X 129270121 X 130136146 430466 422412 rs1131691983 NC_000023.11:130136145:G:T
NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly) AIFM1|RAB33A V395G, V391G, V56G not provided Likely pathogenic(Last reviewed: Nov 14, 2013) criteria provided, single submitter VCV000214083 X 129270141 X 130136166 214083 211998 rs863223898 NC_000023.11:130136165:A:C
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser) AIFM1|RAB33A N366S, N362S, N27S Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162478 X 129270685 X 130136710 162478 172153 rs724160019 NC_000023.11:130136709:T:C
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg) AIFM1|RAB33A G360R, G21R, G356R Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162485 X 129270704 X 130136729 162485 172154 rs724160026 NC_000023.11:130136728:C:G
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) AIFM1|RAB33A M340T, M1T, M336T Cowchock syndrome|Pes planus|Sensorineural hearing loss|Distal muscle weakness|Foot dorsiflexor weakness Likely pathogenic(Last reviewed: Aug 6, 2015) criteria provided, single submitter VCV000374094 X 129271109 X 130137134 374094 361080 rs1057518895 NC_000023.11:130137133:A:G
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr) AIFM1|RAB33A I287T, I283T Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162476 X 129272675 X 130138700 162476 172156 rs724160018 NC_000023.11:130138699:A:G
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met) AIFM1|RAB33A T282M, T278M Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162475 X 129273783 X 130139808 162475 172157 rs724160017 NC_000023.11:130139807:G:A
NM_004208.4(AIFM1):c.710A>T (p.Asp237Val) AIFM1|RAB33A D237V, D233V not provided Likely pathogenic(Last reviewed: Sep 26, 2017) criteria provided, single submitter VCV000449839 X 129274579 X 130140604 449839 446498 rs1202786652 NC_000023.11:130140603:T:A
NM_004208.4(AIFM1):c.578T>C (p.Phe193Ser) AIFM1|RAB33A F193S, F189S not provided Likely pathogenic(Last reviewed: May 14, 2015) criteria provided, single submitter VCV000427154 X 129281495 X 130147520 427154 415740 rs1085307990 NC_000023.11:130147519:A:G
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro) AIFM1|RAB33A L187P, L191P Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162474 X 129281500 - 129281501 X 130147525 - 130147526 162474 172158 rs724160016 NC_000023.11:130147524:CA:AG
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) AIFM1|RAB33A P165L, P169L Combined oxidative phosphorylation deficiency 6 Likely pathogenic(Last reviewed: Jan 1, 2019) criteria provided, single submitter VCV000982823 X 129281567 X 130147592 982823 971179 NC_000023.11:130147591:G:A
NM_004208.4(AIFM1):c.469G>T (p.Ala157Ser) AIFM1|RAB33A A157S, A153S not provided Likely pathogenic(Last reviewed: Jun 7, 2017) criteria provided, single submitter VCV000432694 X 129281732 X 130147757 432694 426404 rs1556277188 NC_000023.11:130147756:C:A
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val) AIFM1|RAB33A A145V, A141V Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162473 X 129281767 X 130147792 162473 172159 rs724160015 NC_000023.11:130147791:G:A
NM_004208.4(AIFM1):c.-123G>C AIFM1|RAB33A Deafness, X-linked 5 Likely pathogenic no assertion criteria provided VCV000162472 X 129299753 X 130165779 162472 172160 rs724160014 NC_000023.11:130165778:C:G
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) CD99L2|H2AB3|USP26|PHF6|RENBP|CXorf51A|HSFX2|PRR32|SMIM9|CXorf51B|CMC4|HSFX1|LOC100509091|TMEM185A|SLITRK2|PNMA6A|MAGEA8|MAGEA9|SPANXC|FUNDC2|MIR506|MIR508|IGSF1|IRAK1|L1CAM|MAGEA12|MCF2|MAGEA10|MAGEA11|XPNPEP2|TMEM187|LAGE3|SLC10A3|TKTL1|PLXNB3|OPN1LW|TAZ|VBP1|CTAG1B|TEX28|ADGRG4|GAB3|CDR1|CETN2|RAP2C|FAM3A|BCORL1|BGN|CLIC2|CNGA2|BRS3|CD40LG|MIR424|CT45A6|CT45A1|EOLA2|MIR503|MIR510|SMIM10|F8|F9|GPC4|FGF13|FHL1|FLNA|FMR1|AFF2|G6PD|GABRA3|MIR509-3|GPR50-AS1|ATP6AP1|AVPR2|GABRE|OPN1MW|GDI1|GPC3|GRIA3|CT45A2|HCFC1|HMGB3|HPRT1|IDH3G|IDS|SH2D1A|MAGEA1|MAGEA2|MAGEA3|MAGEA4|MAGEA6|FMR1-AS1|MECP2|MPP1|MTCP1|MTM1|OCRL|PNMA6E|ABCD1|XIAP|ARHGAP4|ATP2B3|RPL10|SLC6A8|SMARCA1|SOX3|SSR4|DKC1|DNASE1L1|DUSP9|ELF4|EMD|ZIC3|ZNF75D|ZNF185|NAA10|F8A1|UBL4A|MAGEA9B|IKBKG|MTMR1|APLN|RTL8C|SLC25A14|FAM50A|AIFM1|GPR50|RAB33A|ARHGEF6|MAGEC1|MAMLD1|BCAP31|TENM1|SLC9A6|ENOX2|STAG2|PLAC1|OPN1MW2|SPANXB1|SPANXA2|UTP14A|ZNF275|TREX2|LDOC1|RTL8A|SRPK3|RBMX|HTATSF1|PNMA3|SPANXA1|CTAG2|NSDHL|ZDHHC9|TFDP3|MAGEC2|VGLL1|RBMX2|STK26|SASH3|CT55|TMLHE|SAGE1|PLXNA3|HAUS7|BRCC3|MAP7D3|GPR101|ZNF280C|MBNL3|GABRQ|MOSPD1|THOC2|PDZD4|FATE1|HS6ST2|MIR509-1|PRRG3|SPANXD|FRMD7|EOLA1|CCNQ|MMGT1|PNMA5|RAB39B|SLITRK4|SPANXN3|MAGEC3|PASD1|DCAF12L1|PNCK|ZFP92|ACTRT1|GPR119|CSAG1|FMR1NB|ARHGAP36|PABIR2|PABIR3|INTS6L|ZNF449|VMA21|CTAG1A|MAGEA2B|ATP11C|DCAF12L2|OR13H1|CCDC160|CXorf66|UBE2NL|CSAG3|MIR105-1|MIR105-2|MIR106A|MIR19B2|MIR224|RTL8B|CT45A3|CT45A5|SPANXN4|H2AB2|H2AB1|F8A2|F8A3|SPANXN1|SPANXN2 Intellectual disability Likely pathogenic(Last reviewed: Oct 7, 2019) criteria provided, single submitter VCV000916135 X 122132166 - 155097214 916135 904359
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 ABCD1|XIAP|ARHGAP4|ATP2B3|ATP6AP1|AVPR2|BGN|BRS3|CD40LG|CDR1|CETN2|CLIC2|CNGA2|CTAG1B|TEX28|DKC1|DNASE1L1|DUSP9|ELF4|EMD|F8|F9|GPC4|FGF13|FHL1|FLNA|FMR1|AFF2|G6PD|GABRA3|GABRE|OPN1MW|GDI1|GPC3|HCFC1|HMGB3|HPRT1|IDH3G|IDS|IGSF1|IRAK1|L1CAM|SH2D1A|MAGEA1|MAGEA2|MAGEA3|MAGEA4|MAGEA6|MAGEA8|MAGEA9|MAGEA10|MAGEA11|MAGEA12|MCF2|MECP2|MPP1|MTCP1|MTM1|OCRL|PLXNB3|OPN1LW|RENBP|RPL10|SLC6A8|SMARCA1|SOX3|SSR4|TAZ|VBP1|XPNPEP2|ZIC3|ZNF75D|ZNF185|NAA10|F8A1|UBL4A|TMEM187|LAGE3|SLC10A3|TKTL1|IKBKG|MTMR1|APLN|RTL8C|SLC25A14|FAM50A|AIFM1|GPR50|RAB33A|ARHGEF6|MAGEC1|MAMLD1|BCAP31|TENM1|SLC9A6|ENOX2|STAG2|PLAC1|UTP14A|ZNF275|TREX2|LDOC1|RTL8A|SRPK3|RBMX|HTATSF1|PNMA3|SPANXA1|CTAG2|NSDHL|ZDHHC9|TFDP3|MAGEC2|VGLL1|RBMX2|STK26|SASH3|CT55|TMLHE|SAGE1|PLXNA3|HAUS7|ZNF280C|MBNL3|GABRQ|MOSPD1|THOC2|PDZD4|RAP2C|FAM3A|BCORL1|SPANXD|SPANXC|FUNDC2|PRRG3|BRCC3|MAP7D3|GPR101|CD99L2|H2AB3|USP26|PHF6|TMEM185A|SLITRK2|PNMA6A|FATE1|HS6ST2|FRMD7|EOLA1|CCNQ|MMGT1|PNMA5|RAB39B|SLITRK4|SPANXN3|MAGEC3|PASD1|DCAF12L1|ADGRG4|GAB3|PNCK|ZFP92|ACTRT1|GPR119|CSAG1|FMR1NB|ARHGAP36|PABIR2|PABIR3|INTS6L|ZNF449|VMA21|CTAG1A|MAGEA2B|ATP11C|DCAF12L2|OR13H1|CCDC160|CXorf66|UBE2NL|CSAG3|MIR105-1|MIR105-2|MIR106A|MIR19B2|MIR224|RTL8B|CT45A3|CT45A5|SPANXN4|H2AB2|H2AB1|F8A2|F8A3|SPANXN1|SPANXN2|MIR424|CT45A6|CT45A1|EOLA2|MIR503|MIR506|MIR508|MIR509-1|MIR510|SMIM10|PNMA6E|MAGEA9B|OPN1MW2|SPANXB1|SPANXA2|CT45A2|FMR1-AS1|MIR509-3|GPR50-AS1|CXorf51A|HSFX2|PRR32|SMIM9|CXorf51B|CMC4|HSFX1|LOC100509091 Premature ovarian insufficiency Likely pathogenic no assertion criteria provided VCV000625854 X 122757437 - 155208244 625854 614158
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 ZNF280C|MBNL3|RAP2C|BCORL1|USP26|HS6ST2|FRMD7|DCAF12L1|ACTRT1|GPR119|ARHGAP36|DCAF12L2|OR13H1|PRR32|ELF4|GPC4|GPC3|IGSF1|SH2D1A|OCRL|SMARCA1|XPNPEP2|APLN|SLC25A14|AIFM1|RAB33A|TENM1|ENOX2|STAG2|UTP14A|ZDHHC9|TFDP3|RBMX2|STK26|SASH3 See cases Likely pathogenic no assertion criteria provided VCV000396545 X 123108906 - 133026079 396545 383438