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1. | Aslanukov A, etal., PLoS Genet. 2006 Oct;2(10):e177. Epub 2006 Sep 1. |
2. | Cho KI, etal., Cell Mol Life Sci. 2012 Oct;69(20):3511-27. doi: 10.1007/s00018-012-1071-9. Epub 2012 Jul 21. |
3. | Felix RS, etal., Cancer Lett. 2009 Jun 8;278(1):41-8. doi: 10.1016/j.canlet.2008.12.022. Epub 2009 Jan 25. |
4. | GOA_HUMAN data from the GO Consortium |
5. | Lin MY and Sheng ZH, Exp Cell Res. 2015 May 15;334(1):35-44. doi: 10.1016/j.yexcr.2015.01.004. Epub 2015 Jan 19. |
6. | Ma Z, etal., Genes Chromosomes Cancer. 2003 May;37(1):98-105. |
7. | Nagai M, etal., FEBS Lett. 2011 Mar 9;585(5):791-6. doi: 10.1016/j.febslet.2011.02.002. Epub 2011 Feb 26. |
8. | Natalizio BJ and Wente SR, Trends Cell Biol. 2013 Aug;23(8):365-73. doi: 10.1016/j.tcb.2013.03.006. Epub 2013 Apr 11. |
9. | Neilson DE, etal., Am J Hum Genet. 2009 Jan;84(1):44-51. doi: 10.1016/j.ajhg.2008.12.009. |
10. | OMIM Disease Annotation Pipeline |
11. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
12. | RGD automated import pipeline for gene-chemical interactions |
13. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:7559465 | PMID:7603572 | PMID:7724562 | PMID:7775481 | PMID:7882974 | PMID:8857542 | PMID:8909533 | PMID:9019411 | PMID:9037092 | PMID:9114010 | PMID:9144189 | PMID:9244446 |
PMID:9398662 | PMID:9456312 | PMID:9480752 | PMID:9733766 | PMID:10078529 | PMID:10318915 | PMID:10473610 | PMID:10601273 | PMID:10601307 | PMID:10668806 | PMID:11266456 | PMID:11353387 |
PMID:11470507 | PMID:11553612 | PMID:11709548 | PMID:11792325 | PMID:11839768 | PMID:11854305 | PMID:12032081 | PMID:12138183 | PMID:12191015 | PMID:12192048 | PMID:12228227 | PMID:12393906 |
PMID:12874403 | PMID:12894213 | PMID:12963708 | PMID:14729961 | PMID:14755735 | PMID:15037602 | PMID:15144186 | PMID:15174051 | PMID:15302935 | PMID:15378033 | PMID:15388847 | PMID:15608651 |
PMID:15632063 | PMID:15815621 | PMID:15826666 | PMID:15840729 | PMID:15931224 | PMID:16194093 | PMID:16204249 | PMID:16314397 | PMID:16314522 | PMID:16332688 | PMID:16524884 | PMID:16565220 |
PMID:16586133 | PMID:16620772 | PMID:16688858 | PMID:16730000 | PMID:16964243 | PMID:17081983 | PMID:17098863 | PMID:17168522 | PMID:17264123 | PMID:17314511 | PMID:17353931 | PMID:17887960 |
PMID:17911097 | PMID:18080148 | PMID:18187620 | PMID:18239623 | PMID:18305100 | PMID:18359863 | PMID:18394993 | PMID:18691615 | PMID:18854154 | PMID:18946085 | PMID:18984154 | PMID:19182791 |
PMID:19299463 | PMID:19305391 | PMID:19454010 | PMID:19654215 | PMID:19785004 | PMID:19807769 | PMID:19811512 | PMID:19828735 | PMID:19946888 | PMID:20085707 | PMID:20360068 | PMID:20386726 |
PMID:20467437 | PMID:20473521 | PMID:20547757 | PMID:20676357 | PMID:20936779 | PMID:21145461 | PMID:21179483 | PMID:21256132 | PMID:21423673 | PMID:21518904 | PMID:21568279 | PMID:21670213 |
PMID:21859863 | PMID:21873635 | PMID:21988832 | PMID:21995724 | PMID:22155184 | PMID:22174692 | PMID:22190034 | PMID:22194619 | PMID:22262462 | PMID:22412018 | PMID:22464730 | PMID:22578841 |
PMID:22586326 | PMID:22678362 | PMID:22762018 | PMID:22939629 | PMID:22956906 | PMID:23087682 | PMID:23353830 | PMID:23414517 | PMID:23602568 | PMID:23630457 | PMID:23798571 | PMID:23818861 |
PMID:23824909 | PMID:23883001 | PMID:23902822 | PMID:24034896 | PMID:24051001 | PMID:24113188 | PMID:24196705 | PMID:24196714 | PMID:24211586 | PMID:24457600 | PMID:24470379 | PMID:24525292 |
PMID:24586169 | PMID:24586428 | PMID:24613277 | PMID:24639526 | PMID:24711643 | PMID:24855949 | PMID:24909165 | PMID:24927568 | PMID:25036886 | PMID:25147212 | PMID:25294810 | PMID:25315684 |
PMID:25473726 | PMID:25515538 | PMID:25522933 | PMID:25609649 | PMID:25731773 | PMID:25756610 | PMID:25963833 | PMID:26109731 | PMID:26186194 | PMID:26251516 | PMID:26261240 | PMID:26272610 |
PMID:26344197 | PMID:26364603 | PMID:26496610 | PMID:26618866 | PMID:26658161 | PMID:26972000 | PMID:27160050 | PMID:27248496 | PMID:27327622 | PMID:27342126 | PMID:27545878 | PMID:27609421 |
PMID:27634302 | PMID:27637333 | PMID:27684187 | PMID:27880917 | PMID:27882739 | PMID:28039207 | PMID:28242625 | PMID:28378594 | PMID:28380382 | PMID:28514442 | PMID:28515276 | PMID:28600321 |
PMID:28675297 | PMID:28692047 | PMID:28718761 | PMID:28846114 | PMID:28882106 | PMID:28900032 | PMID:28963881 | PMID:29045831 | PMID:29180619 | PMID:29229926 | PMID:29295817 | PMID:29379164 |
PMID:29467282 | PMID:29478914 | PMID:29507755 | PMID:29509190 | PMID:29564676 | PMID:29706609 | PMID:29844126 | PMID:29955894 | PMID:30021884 | PMID:30196744 | PMID:30333138 | PMID:30349055 |
PMID:30463901 | PMID:30561431 | PMID:30804502 | PMID:30833792 | PMID:30948266 | PMID:31010829 | PMID:31040226 | PMID:31073040 | PMID:31091453 | PMID:31177093 | PMID:31180492 | PMID:31267705 |
PMID:31300519 | PMID:31375530 | PMID:31519766 | PMID:31527615 | PMID:31536960 | PMID:31586073 | PMID:31620119 | PMID:31685992 | PMID:31812350 | PMID:31980649 | PMID:32161167 | PMID:32224012 |
PMID:32416067 | PMID:32450081 | PMID:32529326 | PMID:32780723 | PMID:32786267 | PMID:33113626 | PMID:33144569 |
RANBP2 (Homo sapiens - human) |
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Ranbp2 (Mus musculus - house mouse) |
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Ranbp2 (Rattus norvegicus - Norway rat) |
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Ranbp2 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100989340 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RANBP2 (Canis lupus familiaris - dog) |
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LOC101974817 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LOC100511376 (Sus scrofa - pig) |
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RANBP2 (Chlorocebus sabaeus - African green monkey) |
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SHGC-36406 |
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RH79061 |
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RH98799 |
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RH78999 |
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RH67924 |
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RH18435 |
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RH16188 |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2371 | 1960 | 1502 | 407 | 1330 | 249 | 4324 | 1865 | 2427 | 316 | 1434 | 1601 | 171 | 1198 | 2762 | 4 | ||
Low | 66 | 1028 | 224 | 217 | 619 | 216 | 32 | 332 | 1304 | 103 | 25 | 12 | 4 | 1 | 6 | 26 | 2 | 2 |
Below cutoff | 1 | 3 | 2 | 3 |
RefSeq Transcripts | NG_012210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_006267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005264002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005264003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005264004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005264005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005264007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011511575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011511576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011511578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017004624 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017004625 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA971491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB209483 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC010095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC010906 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC011753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC013271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC073415 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC074387 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC092160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC109344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC133109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC133784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC139850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC140485 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC153804 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC233025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK025462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK025711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY170822 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D42063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB525378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF456694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L41840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U19240 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U19248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000283195 ⟹ ENSP00000283195 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000425282 ⟹ ENSP00000398970 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000495506 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000495924 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000629728 ⟹ ENSP00000485979 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_006267 ⟹ NP_006258 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005264002 ⟹ XP_005264059 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005264003 ⟹ XP_005264060 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005264004 ⟹ XP_005264061 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005264005 ⟹ XP_005264062 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005264007 ⟹ XP_005264064 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011511575 ⟹ XP_011509877 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011511576 ⟹ XP_011509878 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011511578 ⟹ XP_011509880 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017004624 ⟹ XP_016860113 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017004625 ⟹ XP_016860114 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_006258 | (Get FASTA) | NCBI Sequence Viewer |
XP_005264059 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005264060 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005264061 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005264062 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005264064 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011509877 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011509878 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011509880 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016860113 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016860114 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA85837 | (Get FASTA) | NCBI Sequence Viewer |
AAA85838 | (Get FASTA) | NCBI Sequence Viewer | |
AAC41758 | (Get FASTA) | NCBI Sequence Viewer | |
AAO13594 | (Get FASTA) | NCBI Sequence Viewer | |
AAY14984 | (Get FASTA) | NCBI Sequence Viewer | |
BAA07662 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92720 | (Get FASTA) | NCBI Sequence Viewer | |
P49792 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_006258 ⟸ NM_006267 |
- UniProtKB: | P49792 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005264059 ⟸ XM_005264002 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_005264060 ⟸ XM_005264003 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_005264061 ⟸ XM_005264004 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_005264064 ⟸ XM_005264007 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_005264062 ⟸ XM_005264005 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_011509878 ⟸ XM_011511576 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_011509877 ⟸ XM_011511575 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011509880 ⟸ XM_011511578 |
- Peptide Label: | isoform X10 |
- Sequence: |
RefSeq Acc Id: | XP_016860114 ⟸ XM_017004625 |
- Peptide Label: | isoform X11 |
- Sequence: |
RefSeq Acc Id: | XP_016860113 ⟸ XM_017004624 |
- Peptide Label: | isoform X9 |
- Sequence: |
RefSeq Acc Id: | ENSP00000398970 ⟸ ENST00000425282 |
RefSeq Acc Id: | ENSP00000283195 ⟸ ENST00000283195 |
RefSeq Acc Id: | ENSP00000485979 ⟸ ENST00000629728 |
RGD ID: | 6798050 | ||||||||
Promoter ID: | HG_KWN:34360 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000409491, NM_006267, OTTHUMT00000330302, OTTHUMT00000330303, OTTHUMT00000331200 | ||||||||
Position: |
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RGD ID: | 6861292 | ||||||||
Promoter ID: | EPDNEW_H3811 | ||||||||
Type: | initiation region | ||||||||
Name: | RANBP2_1 | ||||||||
Description: | RAN binding protein 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_006267.5(RANBP2):c.3228_3229delinsAA (p.Gln1077Lys) | indel | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551201] | Chr2:108763767..108763768 [GRCh38] Chr2:109380223..109380224 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2243C>T (p.Ser748Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000549084] | Chr2:108754945 [GRCh38] Chr2:109371401 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_006267.5(RANBP2):c.4950A>G (p.Thr1650=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000526818] | Chr2:108765489 [GRCh38] Chr2:109381945 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.7474A>C (p.Thr2492Pro) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000527202] | Chr2:108768013 [GRCh38] Chr2:109384469 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.6171G>A (p.Leu2057=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000533038] | Chr2:108766710 [GRCh38] Chr2:109383166 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.3153T>C (p.Val1051=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547723] | Chr2:108763692 [GRCh38] Chr2:109380148 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.6060C>T (p.Pro2020=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000554459] | Chr2:108766599 [GRCh38] Chr2:109383055 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.6033C>T (p.Ile2011=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000544324] | Chr2:108766572 [GRCh38] Chr2:109383028 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.5653A>G (p.Thr1885Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000554948] | Chr2:108766192 [GRCh38] Chr2:109382648 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1718C>G (p.Ala573Gly) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000532671] | Chr2:108751957 [GRCh38] Chr2:109368413 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4801G>T (p.Gly1601Ter) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000655953] | Chr2:108765340 [GRCh38] Chr2:109381796 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7850-6T>G | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000544112] | Chr2:108771695 [GRCh38] Chr2:109388151 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.1738G>A (p.Glu580Lys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000542999] | Chr2:108751977 [GRCh38] Chr2:109368433 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_006267.5(RANBP2):c.3242A>G (p.Tyr1081Cys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000524654] | Chr2:108763781 [GRCh38] Chr2:109380237 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5452C>T (p.Pro1818Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000525208] | Chr2:108765991 [GRCh38] Chr2:109382447 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8166G>A (p.Glu2722=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000543877] | Chr2:108772920 [GRCh38] Chr2:109389376 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.1284A>G (p.Arg428=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000544227] | Chr2:108751274 [GRCh38] Chr2:109367730 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2056-10A>G | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551733] | Chr2:108753815 [GRCh38] Chr2:109370271 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2625A>G (p.Val875=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545048] | Chr2:108762123 [GRCh38] Chr2:109378579 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.4530A>G (p.Leu1510=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545334]|not specified [RCV000611989] | Chr2:108765069 [GRCh38] Chr2:109381525 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.4999G>A (p.Gly1667Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547468] | Chr2:108765538 [GRCh38] Chr2:109381994 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5096C>T (p.Ser1699Phe) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000526599] | Chr2:108765635 [GRCh38] Chr2:109382091 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3612C>T (p.Phe1204=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547182] | Chr2:108764151 [GRCh38] Chr2:109380607 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2997A>G (p.Ile999Met) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547943] | Chr2:108763536 [GRCh38] Chr2:109379992 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.746C>T (p.Thr249Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000548086] | Chr2:108736213 [GRCh38] Chr2:109352669 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.739C>T (p.Leu247Phe) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000542449] | Chr2:108736206 [GRCh38] Chr2:109352662 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000008868] | Chr2:108751993 [GRCh38] Chr2:109368449 [GRCh37] Chr2:2q13 |
pathogenic|risk factor|conflicting interpretations of pathogenicity |
NM_006267.5(RANBP2):c.1958C>T (p.Thr653Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000008869] | Chr2:108753466 [GRCh38] Chr2:109369922 [GRCh37] Chr2:2q13 |
pathogenic|risk factor |
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000008870] | Chr2:108753474 [GRCh38] Chr2:109369930 [GRCh37] Chr2:2q13 |
pathogenic|risk factor |
GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1 | copy number loss | See cases [RCV000051261] | Chr2:108579001..109736559 [GRCh38] Chr2:109195457..110494136 [GRCh37] Chr2:108561889..109851425 [NCBI36] Chr2:2q12.3-13 |
pathogenic |
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 | copy number gain | See cases [RCV000053141] | Chr2:106696282..110223328 [GRCh38] Chr2:107312738..110980905 [GRCh37] Chr2:106679170..110338194 [NCBI36] Chr2:2q12.2-13 |
uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|See cases [RCV000053142] | Chr2:108593876..109700179 [GRCh38] Chr2:109210332..110457756 [GRCh37] Chr2:2q12.3-13 |
uncertain significance |
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 | copy number gain | See cases [RCV000052947] | Chr2:97672522..110211318 [GRCh38] Chr2:98288985..110968895 [GRCh37] Chr2:97655417..110326184 [NCBI36] Chr2:2q11.2-13 |
pathogenic |
NM_144978.2(CCDC138):c.230C>T (p.Pro77Leu) | single nucleotide variant | Malignant melanoma [RCV000065015] | Chr2:108788930 [GRCh38] Chr2:109405386 [GRCh37] Chr2:108771818 [NCBI36] Chr2:2q13 |
not provided |
NM_006267.5(RANBP2):c.2351G>A (p.Arg784Lys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001085448]|not provided [RCV000514780] | Chr2:108755053 [GRCh38] Chr2:109371509 [GRCh37] Chr2:2q13 |
benign|likely benign |
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 | copy number gain | See cases [RCV000053142] | Chr2:108593876..109700179 [GRCh38] Chr2:109210332..110457756 [GRCh37] Chr2:108576764..109815045 [NCBI36] Chr2:2q12.3-13 |
uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1 | copy number loss | See cases [RCV000134167] | Chr2:107962353..109700179 [GRCh38] Chr2:108578809..110457756 [GRCh37] Chr2:107945241..109815045 [NCBI36] Chr2:2q12.3-13 |
pathogenic|uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1 | copy number loss | See cases [RCV000135738] | Chr2:108593876..109700179 [GRCh38] Chr2:109210332..110457756 [GRCh37] Chr2:108576764..109815045 [NCBI36] Chr2:2q12.3-13 |
uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3 | copy number gain | See cases [RCV000136575] | Chr2:108681906..109700179 [GRCh38] Chr2:109298362..110457756 [GRCh37] Chr2:108664794..109815045 [NCBI36] Chr2:2q12.3-13 |
likely benign|uncertain significance |
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 | copy number gain | See cases [RCV000137361] | Chr2:108719125..110611314 [GRCh38] Chr2:109335581..111368891 [GRCh37] Chr2:108702013..111085360 [NCBI36] Chr2:2q13 |
uncertain significance |
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 | copy number gain | See cases [RCV000138645] | Chr2:101710825..110791418 [GRCh38] Chr2:102327287..111548995 [GRCh37] Chr2:101693719..111265466 [NCBI36] Chr2:2q11.2-13 |
pathogenic |
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 | copy number gain | See cases [RCV000139569] | Chr2:106516472..110576905 [GRCh38] Chr2:107132928..111334482 [GRCh37] Chr2:106499360..110857227 [NCBI36] Chr2:2q12.2-13 |
uncertain significance |
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 | copy number gain | See cases [RCV000140834] | Chr2:106428663..112379067 [GRCh38] Chr2:107045119..113136644 [GRCh37] Chr2:106411551..112853115 [NCBI36] Chr2:2q12.2-14.1 |
uncertain significance |
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 | copy number gain | See cases [RCV000141075] | Chr2:94678532..110602409 [GRCh38] Chr2:95344257..111359986 [GRCh37] Chr2:94707984..111076455 [NCBI36] Chr2:2q11.1-13 |
pathogenic |
GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1 | copy number loss | See cases [RCV000141950] | Chr2:108660713..109735214 [GRCh38] Chr2:109277169..110492791 [GRCh37] Chr2:108643601..109850080 [NCBI36] Chr2:2q12.3-13 |
uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1 | copy number loss | See cases [RCV000142089] | Chr2:108526866..109746741 [GRCh38] Chr2:109143322..110504318 [GRCh37] Chr2:108509754..109861607 [NCBI36] Chr2:2q12.3-13 |
uncertain significance |
NM_006267.5(RANBP2):c.73-6T>A | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001079953]|not provided [RCV000514181]|not specified [RCV000603997] | Chr2:108729126 [GRCh38] Chr2:109345582 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.3967G>T (p.Val1323Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545865] | Chr2:108764506 [GRCh38] Chr2:109380962 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3161A>G (p.Gln1054Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000526008] | Chr2:108763700 [GRCh38] Chr2:109380156 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2q12.3-13(chr2:109300532-110862536)x3 | copy number gain | not provided [RCV000762743] | Chr2:109300532..110862536 [GRCh37] Chr2:2q12.3-13 |
uncertain significance |
NM_006267.5(RANBP2):c.627G>A (p.Gln209=) | single nucleotide variant | not provided [RCV000543255] | Chr2:108735753 [GRCh38] Chr2:109352209 [GRCh37] Chr2:2q13 |
likely benign |
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 | copy number loss | See cases [RCV000240053] | Chr2:106423310..115054828 [GRCh37] Chr2:2q12.2-14.1 |
pathogenic |
NM_006267.5(RANBP2):c.7066G>A (p.Asp2356Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000550452] | Chr2:108767605 [GRCh38] Chr2:109384061 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7760A>G (p.Gln2587Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530705] | Chr2:108768299 [GRCh38] Chr2:109384755 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9354A>G (p.Pro3118=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000549696] | Chr2:108782847 [GRCh38] Chr2:109399303 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8334A>G (p.Val2778=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551514] | Chr2:108775773 [GRCh38] Chr2:109392229 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.1172C>G (p.Ser391Cys) | single nucleotide variant | not provided [RCV000520852] | Chr2:108749028 [GRCh38] Chr2:109365484 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3653A>G (p.Asn1218Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000552535] | Chr2:108764192 [GRCh38] Chr2:109380648 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4972T>G (p.Phe1658Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646004]|not provided [RCV000489412] | Chr2:108765511 [GRCh38] Chr2:109381967 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7340C>T (p.Ser2447Phe) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000549183] | Chr2:108767879 [GRCh38] Chr2:109384335 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_006267.5(RANBP2):c.7966A>G (p.Thr2656Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001078469]|not provided [RCV000489853] | Chr2:108771817 [GRCh38] Chr2:109388273 [GRCh37] Chr2:2q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006267.5(RANBP2):c.543G>A (p.Leu181=) | single nucleotide variant | not specified [RCV000606521] | Chr2:108735669 [GRCh38] Chr2:109352125 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.225C>G (p.Asn75Lys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000527481] | Chr2:108730858 [GRCh38] Chr2:109347314 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.3461A>T (p.His1154Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000528138] | Chr2:108764000 [GRCh38] Chr2:109380456 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2142C>T (p.Thr714=) | single nucleotide variant | not provided [RCV000550565] | Chr2:108753911 [GRCh38] Chr2:109370367 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8599+16G>A | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000603361] | Chr2:108777247 [GRCh38] Chr2:109393703 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.4826A>T (p.Gln1609Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000548563] | Chr2:108765365 [GRCh38] Chr2:109381821 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2410G>A (p.Ala804Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530505] | Chr2:108755203 [GRCh38] Chr2:109371659 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7982A>G (p.Lys2661Arg) | single nucleotide variant | not provided [RCV000522557] | Chr2:108771833 [GRCh38] Chr2:109388289 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000529003] | Chr2:108767711 [GRCh38] Chr2:109384167 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2392A>G (p.Lys798Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000552067] | Chr2:108755185 [GRCh38] Chr2:109371641 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5175A>G (p.Glu1725=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000613401] | Chr2:108765714 [GRCh38] Chr2:109382170 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000534076] | Chr2:108765299 [GRCh38] Chr2:109381755 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.5217C>T (p.Ala1739=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001085130]|not provided [RCV000842640] | Chr2:108765756 [GRCh38] Chr2:109382212 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.5561A>G (p.Asn1854Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539924] | Chr2:108766100 [GRCh38] Chr2:109382556 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.4994_4996AGG[1] (p.Glu1666del) | microsatellite | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000537269] | Chr2:108765533..108765535 [GRCh38] Chr2:109381989..109381991 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535126] | Chr2:108765037 [GRCh38] Chr2:109381493 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2182A>G (p.Asn728Asp) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539001] | Chr2:108753951 [GRCh38] Chr2:109370407 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.911_913GTA[1] (p.Ser305del) | microsatellite | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539747] | Chr2:108740615..108740617 [GRCh38] Chr2:109357071..109357073 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.432A>G (p.Glu144=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000560523] | Chr2:108735558 [GRCh38] Chr2:109352014 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2084A>C (p.Glu695Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535662] | Chr2:108753853 [GRCh38] Chr2:109370309 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_006267.5(RANBP2):c.6856C>G (p.Gln2286Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535692] | Chr2:108767395 [GRCh38] Chr2:109383851 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3033G>A (p.Pro1011=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000558351]|not specified [RCV000609979] | Chr2:108763572 [GRCh38] Chr2:109380028 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.8461A>C (p.Thr2821Pro) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000536259] | Chr2:108775900 [GRCh38] Chr2:109392356 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.9405A>G (p.Gly3135=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000538420] | Chr2:108783631 [GRCh38] Chr2:109400087 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2383-3T>C | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000542012] | Chr2:108755173 [GRCh38] Chr2:109371629 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_006267.5(RANBP2):c.5249C>G (p.Pro1750Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000445625] | Chr2:108765788 [GRCh38] Chr2:109382244 [GRCh37] Chr2:2q13 |
likely pathogenic |
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 | copy number gain | See cases [RCV000446842] | Chr2:95327499..111370025 [GRCh37] Chr2:2q11.1-13 |
pathogenic |
GRCh37/hg19 2q12.3-13(chr2:108526025-110876776)x3 | copy number gain | See cases [RCV000446992] | Chr2:108526025..110876776 [GRCh37] Chr2:2q12.3-13 |
uncertain significance |
NM_006267.5(RANBP2):c.-45C>T | single nucleotide variant | not specified [RCV000423758] | Chr2:108719562 [GRCh38] Chr2:109336018 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.6349G>A (p.Ala2117Thr) | single nucleotide variant | not provided [RCV000423778] | Chr2:108766888 [GRCh38] Chr2:109383344 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.637-18G>A | single nucleotide variant | not specified [RCV000427156] | Chr2:108736086 [GRCh38] Chr2:109352542 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2955G>A (p.Pro985=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000559712]|not specified [RCV000427190] | Chr2:108763494 [GRCh38] Chr2:109379950 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2559T>A (p.Asp853Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000559917]|not specified [RCV000445101] | Chr2:108758505 [GRCh38] Chr2:109374961 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.8670C>T (p.Ala2890=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551012]|not specified [RCV000417552] | Chr2:108781339 [GRCh38] Chr2:109397795 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2056-19A>G | single nucleotide variant | not specified [RCV000420924] | Chr2:108753806 [GRCh38] Chr2:109370262 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.7850-5T>A | single nucleotide variant | not provided [RCV000427418] | Chr2:108771696 [GRCh38] Chr2:109388152 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000553569]|not specified [RCV000434550] | Chr2:108755041 [GRCh38] Chr2:109371497 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2173A>G (p.Ser725Gly) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000528682]|not specified [RCV000417954] | Chr2:108753942 [GRCh38] Chr2:109370398 [GRCh37] Chr2:2q13 |
benign|likely benign|uncertain significance |
NM_006267.5(RANBP2):c.816G>C (p.Leu272Phe) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000558174]|not specified [RCV000417963] | Chr2:108740522 [GRCh38] Chr2:109356978 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2550A>G (p.Ser850=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646024]|not specified [RCV000418014] | Chr2:108758496 [GRCh38] Chr2:109374952 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.1209C>T (p.Ser403=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000529607]|not specified [RCV000427926] | Chr2:108749065 [GRCh38] Chr2:109365521 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535955]|not specified [RCV000431568] | Chr2:108767148 [GRCh38] Chr2:109383604 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.1632-16T>C | single nucleotide variant | not specified [RCV000438656] | Chr2:108751855 [GRCh38] Chr2:109368311 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000445589]|not specified [RCV000419020] | Chr2:108768038 [GRCh38] Chr2:109384494 [GRCh37] Chr2:2q13 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_006267.5(RANBP2):c.72+11C>G | single nucleotide variant | not specified [RCV000424792] | Chr2:108719689 [GRCh38] Chr2:109336145 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.5489A>G (p.His1830Arg) | single nucleotide variant | not specified [RCV000439072] | Chr2:108766028 [GRCh38] Chr2:109382484 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.-41G>T | single nucleotide variant | not specified [RCV000439089] | Chr2:108719566 [GRCh38] Chr2:109336022 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.3934G>A (p.Val1312Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530818]|not specified [RCV000442777] | Chr2:108764473 [GRCh38] Chr2:109380929 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_006267.5(RANBP2):c.5941T>A (p.Ser1981Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000533259]|not specified [RCV000428797] | Chr2:108766480 [GRCh38] Chr2:109382936 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.1456-7A>G | single nucleotide variant | not specified [RCV000435663] | Chr2:108751521 [GRCh38] Chr2:109367977 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.3597G>A (p.Ala1199=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000532455]|not specified [RCV000422066] | Chr2:108764136 [GRCh38] Chr2:109380592 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.8113+12G>A | single nucleotide variant | not specified [RCV000428994] | Chr2:108772593 [GRCh38] Chr2:109389049 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2520T>C (p.Arg840=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545116]|not specified [RCV000436016] | Chr2:108758466 [GRCh38] Chr2:109374922 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.4443A>G (p.Gly1481=) | single nucleotide variant | not specified [RCV000419571] | Chr2:108764982 [GRCh38] Chr2:109381438 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.405+17T>G | single nucleotide variant | not specified [RCV000443418] | Chr2:108731491 [GRCh38] Chr2:109347947 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.7850-7G>C | single nucleotide variant | not specified [RCV000443433] | Chr2:108771694 [GRCh38] Chr2:109388150 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.560A>G (p.His187Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693103]|not provided [RCV000419803] | Chr2:108735686 [GRCh38] Chr2:109352142 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1274-14T>A | single nucleotide variant | not specified [RCV000422343] | Chr2:108751250 [GRCh38] Chr2:109367706 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000552434]|not specified [RCV000425988] | Chr2:108768293 [GRCh38] Chr2:109384749 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.6643C>G (p.Pro2215Ala) | single nucleotide variant | not specified [RCV000429457] | Chr2:108767182 [GRCh38] Chr2:109383638 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.1064-13A>T | single nucleotide variant | not specified [RCV000443547] | Chr2:108748907 [GRCh38] Chr2:109365363 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2982A>T (p.Ala994=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000537735]|not specified [RCV000443896] | Chr2:108763521 [GRCh38] Chr2:109379977 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.9369+4G>A | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000527967]|not specified [RCV000430083] | Chr2:108782866 [GRCh38] Chr2:109399322 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2330A>G (p.His777Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000538640]|not specified [RCV000440405] | Chr2:108755032 [GRCh38] Chr2:109371488 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.6612C>A (p.Ala2204=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000546469]|not specified [RCV000440460] | Chr2:108767151 [GRCh38] Chr2:109383607 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802922]|not provided [RCV000435639] | Chr2:108751607 [GRCh38] Chr2:109368063 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2562A>G (p.Gly854=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530004]|not specified [RCV000440607] | Chr2:108758508 [GRCh38] Chr2:109374964 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2466+17C>T | single nucleotide variant | not specified [RCV000444332] | Chr2:108755276 [GRCh38] Chr2:109371732 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.9585C>T (p.Gly3195=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000553195]|not specified [RCV000444408] | Chr2:108783811 [GRCh38] Chr2:109400267 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.783-6T>C | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001087843]|not provided [RCV000420242] | Chr2:108740483 [GRCh38] Chr2:109356939 [GRCh37] Chr2:2q13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006267.5(RANBP2):c.8600-14G>T | single nucleotide variant | not specified [RCV000426800] | Chr2:108781255 [GRCh38] Chr2:109397711 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.3411A>C (p.Pro1137=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000554396]|not specified [RCV000437267] | Chr2:108763950 [GRCh38] Chr2:109380406 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.238G>A (p.Val80Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000960742]|not specified [RCV000433920] | Chr2:108730871 [GRCh38] Chr2:109347327 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.7849+4A>G | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000529327]|not specified [RCV000437422] | Chr2:108768392 [GRCh38] Chr2:109384848 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001083701]|not provided [RCV000442260]|not specified [RCV000486351] | Chr2:108775846 [GRCh38] Chr2:109392302 [GRCh37] Chr2:2q13 |
benign |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000477838]|not provided [RCV000513896] | Chr2:108763765 [GRCh38] Chr2:109380221 [GRCh37] Chr2:2q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006267.5(RANBP2):c.2977T>G (p.Ser993Ala) | single nucleotide variant | not provided [RCV000482620] | Chr2:108763516 [GRCh38] Chr2:109379972 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2502C>G (p.Asn834Lys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001080738]|not provided [RCV000498608] | Chr2:108758448 [GRCh38] Chr2:109374904 [GRCh37] Chr2:2q13 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006267.5(RANBP2):c.3125G>A (p.Gly1042Asp) | single nucleotide variant | not provided [RCV000492843] | Chr2:108763664 [GRCh38] Chr2:109380120 [GRCh37] Chr2:2q13 |
likely pathogenic |
Single allele | inversion | not provided [RCV000714264] | Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q12.3-13(chr2:108534030-110492791)x3 | copy number gain | See cases [RCV000510943] | Chr2:108534030..110492791 [GRCh37] Chr2:2q12.3-13 |
uncertain significance |
NM_006267.5(RANBP2):c.1087C>T (p.Arg363Cys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000555719] | Chr2:108748943 [GRCh38] Chr2:109365399 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.6613G>C (p.Gly2205Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000556583] | Chr2:108767152 [GRCh38] Chr2:109383608 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_006267.5(RANBP2):c.561C>T (p.His187=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646023] | Chr2:108735687 [GRCh38] Chr2:109352143 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.728T>C (p.Met243Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000534686]|not specified [RCV000602236] | Chr2:108736195 [GRCh38] Chr2:109352651 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.8916A>C (p.Leu2972=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000525025] | Chr2:108782283 [GRCh38] Chr2:109398739 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2056-4A>T | single nucleotide variant | not provided [RCV000557493] | Chr2:108753821 [GRCh38] Chr2:109370277 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.1918-3del | deletion | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000557535] | Chr2:108753421 [GRCh38] Chr2:109369877 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539349] | Chr2:108763902 [GRCh38] Chr2:109380358 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.9603G>T (p.Lys3201Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646015] | Chr2:108783829 [GRCh38] Chr2:109400285 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 | copy number loss | PARP Inhibitor response [RCV000626436] | Chr2:104172062..168223828 [GRCh37] Chr2:2q12.1-24.3 |
drug response |
NM_006267.5(RANBP2):c.7670A>G (p.Asn2557Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646030] | Chr2:108768209 [GRCh38] Chr2:109384665 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2943C>T (p.Phe981=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646031] | Chr2:108763482 [GRCh38] Chr2:109379938 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.7474A>G (p.Thr2492Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646020] | Chr2:108768013 [GRCh38] Chr2:109384469 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.1776T>C (p.Phe592=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646018] | Chr2:108753018 [GRCh38] Chr2:109369474 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8491A>T (p.Ser2831Cys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646016] | Chr2:108775930 [GRCh38] Chr2:109392386 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7911A>T (p.Glu2637Asp) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646011] | Chr2:108771762 [GRCh38] Chr2:109388218 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5983G>A (p.Asp1995Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646010] | Chr2:108766522 [GRCh38] Chr2:109382978 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1398T>G (p.His466Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646009] | Chr2:108751388 [GRCh38] Chr2:109367844 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4442G>A (p.Gly1481Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646008] | Chr2:108764981 [GRCh38] Chr2:109381437 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.967G>C (p.Ala323Pro) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646007] | Chr2:108740673 [GRCh38] Chr2:109357129 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2164A>T (p.Ile722Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646003] | Chr2:108753933 [GRCh38] Chr2:109370389 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2q12.3-13(chr2:109301074-110482930) | copy number loss | not provided [RCV000767554] | Chr2:109301074..110482930 [GRCh37] Chr2:2q12.3-13 |
likely pathogenic |
NM_006267.5(RANBP2):c.1632-10_1632-1delinsAATTTTTAT | indel | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000559030] | Chr2:108751861..108751870 [GRCh38] Chr2:109368317..109368326 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3035G>T (p.Gly1012Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000536673] | Chr2:108763574 [GRCh38] Chr2:109380030 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7805C>T (p.Thr2602Met) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000540574] | Chr2:108768344 [GRCh38] Chr2:109384800 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5394C>T (p.Ser1798=) | single nucleotide variant | not specified [RCV000606225] | Chr2:108765933 [GRCh38] Chr2:109382389 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.5307G>A (p.Lys1769=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000556266]|not specified [RCV000602379] | Chr2:108765846 [GRCh38] Chr2:109382302 [GRCh37] Chr2:2q13 |
benign|likely benign |
Single allele | duplication | Neuronopathy, distal hereditary motor, type viia [RCV000534213] | Chr2:107988136..108963283 [GRCh38] Chr2:2q12.3-13 |
uncertain significance |
NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001084294]|not provided [RCV000514609] | Chr2:108768290 [GRCh38] Chr2:109384746 [GRCh37] Chr2:2q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006267.5(RANBP2):c.3582C>A (p.Phe1194Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000553897] | Chr2:108764121 [GRCh38] Chr2:109380577 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9369+20T>C | single nucleotide variant | not specified [RCV000607756] | Chr2:108782882 [GRCh38] Chr2:109399338 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8075G>A (p.Gly2692Asp) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000533410] | Chr2:108772543 [GRCh38] Chr2:109388999 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.3162_3163delinsTT (p.Gln1054_Pro1055delinsHisSer) | indel | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000541006] | Chr2:108763701..108763702 [GRCh38] Chr2:109380157..109380158 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.4726A>T (p.Thr1576Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000560329]|not specified [RCV000616977] | Chr2:108765265 [GRCh38] Chr2:109381721 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.7463T>C (p.Val2488Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000890560]|not specified [RCV000607627] | Chr2:108768002 [GRCh38] Chr2:109384458 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.7850-15dup | duplication | not specified [RCV000608297] | Chr2:108771679..108771680 [GRCh38] Chr2:109388135..109388136 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.6461C>G (p.Pro2154Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000557647] | Chr2:108767000 [GRCh38] Chr2:109383456 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_006267.5(RANBP2):c.1920A>G (p.Ala640=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535989]|not specified [RCV000609540] | Chr2:108753428 [GRCh38] Chr2:109369884 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_006267.5(RANBP2):c.8253= (p.Glu2751=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000536483] | Chr2:108773007 [GRCh38] Chr2:109389463 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.3501T>C (p.Asp1167=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539136] | Chr2:108764040 [GRCh38] Chr2:109380496 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.8188A>C (p.Lys2730Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000655954] | Chr2:108772942 [GRCh38] Chr2:109389398 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4239A>G (p.Pro1413=) | single nucleotide variant | not specified [RCV000601379] | Chr2:108764778 [GRCh38] Chr2:109381234 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.4317G>C (p.Gln1439His) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645995] | Chr2:108764856 [GRCh38] Chr2:109381312 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1270G>A (p.Val424Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645996] | Chr2:108749126 [GRCh38] Chr2:109365582 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2904G>C (p.Gln968His) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645997] | Chr2:108763443 [GRCh38] Chr2:109379899 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2894A>G (p.Asn965Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645998] | Chr2:108763433 [GRCh38] Chr2:109379889 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7697G>A (p.Ser2566Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645999] | Chr2:108768236 [GRCh38] Chr2:109384692 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2129A>C (p.Tyr710Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646000] | Chr2:108753898 [GRCh38] Chr2:109370354 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6342T>C (p.Asp2114=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646025] | Chr2:108766881 [GRCh38] Chr2:109383337 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8671G>A (p.Gly2891Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646026] | Chr2:108781340 [GRCh38] Chr2:109397796 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.2405G>A (p.Arg802Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646027] | Chr2:108755198 [GRCh38] Chr2:109371654 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.4752T>C (p.Phe1584=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646028] | Chr2:108765291 [GRCh38] Chr2:109381747 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.3351G>A (p.Ser1117=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646029] | Chr2:108763890 [GRCh38] Chr2:109380346 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.7602A>G (p.Ala2534=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646022] | Chr2:108768141 [GRCh38] Chr2:109384597 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.4707G>A (p.Pro1569=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646021] | Chr2:108765246 [GRCh38] Chr2:109381702 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.5979C>T (p.Ser1993=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646019] | Chr2:108766518 [GRCh38] Chr2:109382974 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.526C>T (p.Arg176Cys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646017] | Chr2:108735652 [GRCh38] Chr2:109352108 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8621A>G (p.Asn2874Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646014] | Chr2:108781290 [GRCh38] Chr2:109397746 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1787G>A (p.Arg596Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646013] | Chr2:108753029 [GRCh38] Chr2:109369485 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2147A>G (p.Asp716Gly) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646012] | Chr2:108753916 [GRCh38] Chr2:109370372 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1478A>C (p.Tyr493Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646006] | Chr2:108751550 [GRCh38] Chr2:109368006 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3860C>T (p.Thr1287Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646005] | Chr2:108764399 [GRCh38] Chr2:109380855 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.715T>A (p.Tyr239Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646002] | Chr2:108736182 [GRCh38] Chr2:109352638 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2603-3T>C | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646001] | Chr2:108762098 [GRCh38] Chr2:109378554 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2q12.3-13(chr2:109295035-110504318)x1 | copy number loss | not provided [RCV000682122] | Chr2:109295035..110504318 [GRCh37] Chr2:2q12.3-13 |
likely pathogenic |
GRCh37/hg19 2q12.3-13(chr2:108501887-110504318)x3 | copy number gain | not provided [RCV000682142] | Chr2:108501887..110504318 [GRCh37] Chr2:2q12.3-13 |
uncertain significance |
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 | copy number loss | not provided [RCV000682152] | Chr2:107020782..111365996 [GRCh37] Chr2:2q12.2-13 |
likely pathogenic |
Single allele | duplication | not provided [RCV000678012] | Chr2:107096423..112235727 [GRCh37] Chr2:2q12.2-13 |
likely pathogenic |
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 | copy number gain | not provided [RCV000682168] | Chr2:96353030..114045463 [GRCh37] Chr2:2q11.1-13 |
pathogenic |
NM_006267.5(RANBP2):c.1918-1G>A | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000685431] | Chr2:108753425 [GRCh38] Chr2:109369881 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6272C>T (p.Thr2091Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000685444] | Chr2:108766811 [GRCh38] Chr2:109383267 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8411G>T (p.Ser2804Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000707252] | Chr2:108775850 [GRCh38] Chr2:109392306 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6844G>T (p.Ala2282Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000694990] | Chr2:108767383 [GRCh38] Chr2:109383839 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4139C>G (p.Pro1380Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000702073] | Chr2:108764678 [GRCh38] Chr2:109381134 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7933A>C (p.Lys2645Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000707380] | Chr2:108771784 [GRCh38] Chr2:109388240 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2469A>G (p.Lys823=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000707390] | Chr2:108758415 [GRCh38] Chr2:109374871 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1216A>G (p.Ile406Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000691111] | Chr2:108749072 [GRCh38] Chr2:109365528 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8729T>C (p.Ile2910Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693812] | Chr2:108781398 [GRCh38] Chr2:109397854 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1252G>T (p.Asp418Tyr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000691214] | Chr2:108749108 [GRCh38] Chr2:109365564 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4177A>G (p.Thr1393Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000685130] | Chr2:108764716 [GRCh38] Chr2:109381172 [GRCh37] Chr2:2q13 |
uncertain significance |
NC_000002.12:g.(?_108719587)_(108963283_?)del | deletion | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000708268] | Chr2:108719587..108963283 [GRCh38] Chr2:109336043..109579739 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.873G>A (p.Met291Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000692579] | Chr2:108740579 [GRCh38] Chr2:109357035 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3129C>G (p.Asp1043Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000689722] | Chr2:108763668 [GRCh38] Chr2:109380124 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5929A>G (p.Lys1977Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000697531] | Chr2:108766468 [GRCh38] Chr2:109382924 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3376C>T (p.Arg1126Trp) | single nucleotide variant | not provided [RCV000701823] | Chr2:108763915 [GRCh38] Chr2:109380371 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_006267.5(RANBP2):c.2188T>G (p.Ser730Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000703979] | Chr2:108753957 [GRCh38] Chr2:109370413 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2369G>A (p.Ser790Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000692764] | Chr2:108755071 [GRCh38] Chr2:109371527 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6431G>A (p.Arg2144Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000706958] | Chr2:108766970 [GRCh38] Chr2:109383426 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4042G>A (p.Val1348Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693206] | Chr2:108764581 [GRCh38] Chr2:109381037 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8484T>A (p.Asp2828Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693324] | Chr2:108775923 [GRCh38] Chr2:109392379 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.929G>A (p.Arg310Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000702692] | Chr2:108740635 [GRCh38] Chr2:109357091 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3010A>G (p.Thr1004Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000704892] | Chr2:108763549 [GRCh38] Chr2:109380005 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9253T>C (p.Phe3085Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000696731] | Chr2:108782746 [GRCh38] Chr2:109399202 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9035A>C (p.Asp3012Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000697015] | Chr2:108782528 [GRCh38] Chr2:109398984 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9215C>T (p.Ala3072Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000703691] | Chr2:108782708 [GRCh38] Chr2:109399164 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2q12.3(chr2:109392302-109492622)x3 | copy number gain | not provided [RCV000753078] | Chr2:109392302..109492622 [GRCh37] Chr2:2q12.3 |
benign |
NC_000002.11:g.(?_109367964)_(109579739_?)dup | duplication | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000814613] | Chr2:108751508..108963283 [GRCh38] Chr2:109367964..109579739 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_006267.5(RANBP2):c.5950G>A (p.Gly1984Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000916090] | Chr2:108766489 [GRCh38] Chr2:109382945 [GRCh37] Chr2:2q13 |
likely benign |
NC_000002.12:g.(?_108729112)_(108963283_?)dup | duplication | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001032251] | Chr2:109345568..109579739 [GRCh37] Chr2:2q12.3 |
uncertain significance |
GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)x1 | copy number loss | not provided [RCV001005304] | Chr2:108499809..110504318 [GRCh37] Chr2:2q12.3-13 |
likely pathogenic |
NM_006267.5(RANBP2):c.4220G>A (p.Arg1407Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001045698] | Chr2:108764759 [GRCh38] Chr2:109381215 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2066G>A (p.Arg689Lys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001066901] | Chr2:108753835 [GRCh38] Chr2:109370291 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5092A>G (p.Thr1698Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001045242] | Chr2:108765631 [GRCh38] Chr2:109382087 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3170C>T (p.Pro1057Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001046512] | Chr2:108763709 [GRCh38] Chr2:109380165 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5367T>G (p.Val1789=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000973849] | Chr2:108765906 [GRCh38] Chr2:109382362 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.4161C>T (p.Gly1387=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000921516] | Chr2:108764700 [GRCh38] Chr2:109381156 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.1770T>C (p.Asn590=) | single nucleotide variant | not provided [RCV000944926] | Chr2:108753012 [GRCh38] Chr2:109369468 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8589T>C (p.Phe2863=) | single nucleotide variant | not provided [RCV000906125] | Chr2:108777221 [GRCh38] Chr2:109393677 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.4534G>T (p.Ala1512Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000972868] | Chr2:108765073 [GRCh38] Chr2:109381529 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.7464A>G (p.Val2488=) | single nucleotide variant | not provided [RCV000958400] | Chr2:108768003 [GRCh38] Chr2:109384459 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.6680A>G (p.Tyr2227Cys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000950573] | Chr2:108767219 [GRCh38] Chr2:109383675 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.468A>G (p.Ser156=) | single nucleotide variant | not provided [RCV000943359] | Chr2:108735594 [GRCh38] Chr2:109352050 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.9369+8T>C | single nucleotide variant | not provided [RCV000945538] | Chr2:108782870 [GRCh38] Chr2:109399326 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.288T>G (p.Leu96=) | single nucleotide variant | not provided [RCV000902827] | Chr2:108731357 [GRCh38] Chr2:109347813 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8761-4A>G | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000950892] | Chr2:108782124 [GRCh38] Chr2:109398580 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.1361G>A (p.Arg454Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000880561] | Chr2:108751351 [GRCh38] Chr2:109367807 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2212C>T (p.Pro738Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000878448] | Chr2:108754914 [GRCh38] Chr2:109371370 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.3350C>T (p.Ser1117Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000878356] | Chr2:108763889 [GRCh38] Chr2:109380345 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.4791C>T (p.Ser1597=) | single nucleotide variant | not provided [RCV000950314] | Chr2:108765330 [GRCh38] Chr2:109381786 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2268T>C (p.Tyr756=) | single nucleotide variant | not provided [RCV000903262] | Chr2:108754970 [GRCh38] Chr2:109371426 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.834G>A (p.Leu278=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000882250] | Chr2:108740540 [GRCh38] Chr2:109356996 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.1133A>G (p.Asn378Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001040509] | Chr2:108748989 [GRCh38] Chr2:109365445 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4162C>T (p.Pro1388Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001061430] | Chr2:108764701 [GRCh38] Chr2:109381157 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8254G>C (p.Asp2752His) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001055249] | Chr2:108773008 [GRCh38] Chr2:109389464 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1117G>C (p.Val373Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001062502] | Chr2:108748973 [GRCh38] Chr2:109365429 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2852C>T (p.Thr951Met) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001061864] | Chr2:108763391 [GRCh38] Chr2:109379847 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2834G>A (p.Arg945His) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001058938] | Chr2:108763373 [GRCh38] Chr2:109379829 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4084T>C (p.Ser1362Pro) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001039396] | Chr2:108764623 [GRCh38] Chr2:109381079 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7790T>C (p.Phe2597Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001053765] | Chr2:108768329 [GRCh38] Chr2:109384785 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6499A>G (p.Ile2167Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001042327] | Chr2:108767038 [GRCh38] Chr2:109383494 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1231G>A (p.Val411Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001059201] | Chr2:108749087 [GRCh38] Chr2:109365543 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5798G>A (p.Gly1933Asp) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001060233] | Chr2:108766337 [GRCh38] Chr2:109382793 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9604A>G (p.Ile3202Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001040419] | Chr2:108783830 [GRCh38] Chr2:109400286 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5210A>G (p.Asn1737Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000792717] | Chr2:108765749 [GRCh38] Chr2:109382205 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8497+8_8497+10del | deletion | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000978783] | Chr2:108775944..108775946 [GRCh38] Chr2:109392400..109392402 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.342A>T (p.Ala114=) | single nucleotide variant | not provided [RCV000969816] | Chr2:108731411 [GRCh38] Chr2:109347867 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.6612C>T (p.Ala2204=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000933069] | Chr2:108767151 [GRCh38] Chr2:109383607 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.7863A>G (p.Lys2621=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000942865] | Chr2:108771714 [GRCh38] Chr2:109388170 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.1108A>G (p.Lys370Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000945998] | Chr2:108748964 [GRCh38] Chr2:109365420 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.6792A>C (p.Thr2264=) | single nucleotide variant | not provided [RCV000907177] | Chr2:108767331 [GRCh38] Chr2:109383787 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.6270G>A (p.Thr2090=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000945761] | Chr2:108766809 [GRCh38] Chr2:109383265 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.9243T>C (p.Thr3081=) | single nucleotide variant | not provided [RCV000940670] | Chr2:108782736 [GRCh38] Chr2:109399192 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8859C>T (p.Arg2953=) | single nucleotide variant | not provided [RCV000960761] | Chr2:108782226 [GRCh38] Chr2:109398682 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.6312A>G (p.Ala2104=) | single nucleotide variant | not provided [RCV000942647] | Chr2:108766851 [GRCh38] Chr2:109383307 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.7827C>T (p.Tyr2609=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000895934] | Chr2:108768366 [GRCh38] Chr2:109384822 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2230G>C (p.Glu744Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000946104] | Chr2:108754932 [GRCh38] Chr2:109371388 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2340G>A (p.Pro780=) | single nucleotide variant | not provided [RCV000951644] | Chr2:108755042 [GRCh38] Chr2:109371498 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2148C>T (p.Asp716=) | single nucleotide variant | not provided [RCV000932213] | Chr2:108753917 [GRCh38] Chr2:109370373 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.6663A>G (p.Thr2221=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000945382] | Chr2:108767202 [GRCh38] Chr2:109383658 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.6857A>G (p.Gln2286Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804380] | Chr2:108767396 [GRCh38] Chr2:109383852 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5040C>T (p.Ala1680=) | single nucleotide variant | not provided [RCV000916089] | Chr2:108765579 [GRCh38] Chr2:109382035 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8125G>A (p.Glu2709Lys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000960430] | Chr2:108772879 [GRCh38] Chr2:109389335 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.-50C>T | single nucleotide variant | not provided [RCV000830857] | Chr2:108719557 [GRCh38] Chr2:109336013 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.20A>C (p.Asp7Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000793251] | Chr2:108719626 [GRCh38] Chr2:109336082 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4216G>A (p.Asp1406Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817400] | Chr2:108764755 [GRCh38] Chr2:109381211 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000960107] | Chr2:108763701 [GRCh38] Chr2:109380157 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.7844A>G (p.Glu2615Gly) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817712] | Chr2:108768383 [GRCh38] Chr2:109384839 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7513C>A (p.Pro2505Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804895] | Chr2:108768052 [GRCh38] Chr2:109384508 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5356G>T (p.Asp1786Tyr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804952] | Chr2:108765895 [GRCh38] Chr2:109382351 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.771A>T (p.Glu257Asp) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000795329] | Chr2:108736238 [GRCh38] Chr2:109352694 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9292G>T (p.Ala3098Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000800269] | Chr2:108782785 [GRCh38] Chr2:109399241 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7617A>T (p.Ser2539=) | single nucleotide variant | not provided [RCV000836806] | Chr2:108768156 [GRCh38] Chr2:109384612 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2995A>G (p.Ile999Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000791886] | Chr2:108763534 [GRCh38] Chr2:109379990 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1957A>G (p.Thr653Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000805729] | Chr2:108753465 [GRCh38] Chr2:109369921 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.520G>T (p.Val174Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000815409] | Chr2:108735646 [GRCh38] Chr2:109352102 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1043G>T (p.Cys348Phe) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804150] | Chr2:108746778 [GRCh38] Chr2:109363234 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4976A>G (p.Glu1659Gly) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817201] | Chr2:108765515 [GRCh38] Chr2:109381971 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3387T>G (p.Asp1129Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000799311] | Chr2:108763926 [GRCh38] Chr2:109380382 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5996A>T (p.Asp1999Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000796232] | Chr2:108766535 [GRCh38] Chr2:109382991 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.297G>T (p.Lys99Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000816203] | Chr2:108731366 [GRCh38] Chr2:109347822 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3380G>A (p.Arg1127Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000822768] | Chr2:108763919 [GRCh38] Chr2:109380375 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9220G>A (p.Gly3074Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000800155] | Chr2:108782713 [GRCh38] Chr2:109399169 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3469G>C (p.Asp1157His) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817087] | Chr2:108764008 [GRCh38] Chr2:109380464 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4514C>T (p.Pro1505Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817240] | Chr2:108765053 [GRCh38] Chr2:109381509 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5189G>A (p.Cys1730Tyr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000823404] | Chr2:108765728 [GRCh38] Chr2:109382184 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3273A>T (p.Gln1091His) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000824491] | Chr2:108763812 [GRCh38] Chr2:109380268 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.73A>G (p.Lys25Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000805597] | Chr2:108729132 [GRCh38] Chr2:109345588 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4332T>C (p.Ala1444=) | single nucleotide variant | not provided [RCV000997189] | Chr2:108764871 [GRCh38] Chr2:109381327 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.4830G>C (p.Trp1610Cys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001044945] | Chr2:108765369 [GRCh38] Chr2:109381825 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2314G>C (p.Asp772His) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000812232] | Chr2:108755016 [GRCh38] Chr2:109371472 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4508A>T (p.Gln1503Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000809133] | Chr2:108765047 [GRCh38] Chr2:109381503 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.702C>G (p.Asp234Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000794786] | Chr2:108736169 [GRCh38] Chr2:109352625 [GRCh37] Chr2:2q13 |
uncertain significance |
NC_000002.11:g.(?_109336043)_(109579739_?)dup | duplication | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000811356] | Chr2:108719587..108963283 [GRCh38] Chr2:109336043..109579739 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1283G>A (p.Arg428Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000814675] | Chr2:108751273 [GRCh38] Chr2:109367729 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5323T>C (p.Phe1775Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802327] | Chr2:108765862 [GRCh38] Chr2:109382318 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6592G>T (p.Gly2198Cys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802465] | Chr2:108767131 [GRCh38] Chr2:109383587 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6116G>A (p.Arg2039Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000822231] | Chr2:108766655 [GRCh38] Chr2:109383111 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5871A>G (p.Glu1957=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000939027] | Chr2:108766410 [GRCh38] Chr2:109382866 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.6881A>T (p.Asp2294Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000813056] | Chr2:108767420 [GRCh38] Chr2:109383876 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6988C>A (p.Gln2330Lys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802556] | Chr2:108767527 [GRCh38] Chr2:109383983 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7690G>T (p.Ala2564Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000794332] | Chr2:108768229 [GRCh38] Chr2:109384685 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000960108] | Chr2:108763702 [GRCh38] Chr2:109380158 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.1601C>T (p.Ala534Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000813584] | Chr2:108751673 [GRCh38] Chr2:109368129 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.467C>G (p.Ser156Ter) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000813897] | Chr2:108735593 [GRCh38] Chr2:109352049 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9038G>A (p.Gly3013Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001043100] | Chr2:108782531 [GRCh38] Chr2:109398987 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.593G>A (p.Arg198His) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001044348] | Chr2:108735719 [GRCh38] Chr2:109352175 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2296G>C (p.Gly766Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001042548]|not provided [RCV000997188] | Chr2:108754998 [GRCh38] Chr2:109371454 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2275G>A (p.Gly759Arg) | single nucleotide variant | not provided [RCV000997187] | Chr2:108754977 [GRCh38] Chr2:109371433 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9402C>T (p.Gly3134=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001066701] | Chr2:108783628 [GRCh38] Chr2:109400084 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2797A>T (p.Met933Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001066949] | Chr2:108763336 [GRCh38] Chr2:109379792 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1765C>G (p.Leu589Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001208249] | Chr2:108753007 [GRCh38] Chr2:109369463 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3028A>C (p.Met1010Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001236930] | Chr2:108763567 [GRCh38] Chr2:109380023 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.974A>G (p.Gln325Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001214075] | Chr2:108740680 [GRCh38] Chr2:109357136 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7372A>C (p.Thr2458Pro) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001222537] | Chr2:108767911 [GRCh38] Chr2:109384367 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3287G>A (p.Arg1096Gln) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001239666] | Chr2:108763826 [GRCh38] Chr2:109380282 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7309G>A (p.Asp2437Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001223253] | Chr2:108767848 [GRCh38] Chr2:109384304 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5416G>A (p.Ala1806Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001237845] | Chr2:108765955 [GRCh38] Chr2:109382411 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9503A>G (p.Asn3168Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001226943] | Chr2:108783729 [GRCh38] Chr2:109400185 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3944C>T (p.Ala1315Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001206914] | Chr2:108764483 [GRCh38] Chr2:109380939 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.745A>G (p.Thr249Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001238132] | Chr2:108736212 [GRCh38] Chr2:109352668 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6893A>T (p.Asp2298Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001210174] | Chr2:108767432 [GRCh38] Chr2:109383888 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6782G>A (p.Gly2261Asp) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001210177] | Chr2:108767321 [GRCh38] Chr2:109383777 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5066A>G (p.Gln1689Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001203799] | Chr2:108765605 [GRCh38] Chr2:109382061 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.9158C>T (p.Ser3053Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001225485] | Chr2:108782651 [GRCh38] Chr2:109399107 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1190A>G (p.Asp397Gly) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001225974] | Chr2:108749046 [GRCh38] Chr2:109365502 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3689T>G (p.Ile1230Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001226017] | Chr2:108764228 [GRCh38] Chr2:109380684 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4918T>A (p.Ser1640Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001222050] | Chr2:108765457 [GRCh38] Chr2:109381913 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8423T>C (p.Val2808Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001224728] | Chr2:108775862 [GRCh38] Chr2:109392318 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7756G>A (p.Glu2586Lys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001219047] | Chr2:108768295 [GRCh38] Chr2:109384751 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6025G>A (p.Asp2009Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001212814] | Chr2:108766564 [GRCh38] Chr2:109383020 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3060A>G (p.Pro1020=) | single nucleotide variant | not provided [RCV000978150] | Chr2:108763599 [GRCh38] Chr2:109380055 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2203-8A>G | single nucleotide variant | not provided [RCV000936605] | Chr2:108754897 [GRCh38] Chr2:109371353 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.3955G>C (p.Ala1319Pro) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000952191] | Chr2:108764494 [GRCh38] Chr2:109380950 [GRCh37] Chr2:2q13 |
benign |
NM_006267.5(RANBP2):c.6098A>G (p.Lys2033Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000983806] | Chr2:108766637 [GRCh38] Chr2:109383093 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.4207A>G (p.Asn1403Asp) | single nucleotide variant | not provided [RCV000900467] | Chr2:108764746 [GRCh38] Chr2:109381202 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2862A>G (p.Leu954=) | single nucleotide variant | not provided [RCV000929751] | Chr2:108763401 [GRCh38] Chr2:109379857 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.5825G>T (p.Ser1942Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000952355] | Chr2:108766364 [GRCh38] Chr2:109382820 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.324T>C (p.Asp108=) | single nucleotide variant | not provided [RCV000954656] | Chr2:108731393 [GRCh38] Chr2:109347849 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2244A>G (p.Ser748=) | single nucleotide variant | not provided [RCV000976121] | Chr2:108754946 [GRCh38] Chr2:109371402 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.7039G>C (p.Gly2347Arg) | single nucleotide variant | not provided [RCV000946112] | Chr2:108767578 [GRCh38] Chr2:109384034 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.7293G>T (p.Ser2431=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000946154] | Chr2:108767832 [GRCh38] Chr2:109384288 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8021-7T>C | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000982917] | Chr2:108772482 [GRCh38] Chr2:109388938 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.6120A>G (p.Val2040=) | single nucleotide variant | not provided [RCV000960777] | Chr2:108766659 [GRCh38] Chr2:109383115 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.2379C>T (p.Tyr793=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000981549] | Chr2:108755081 [GRCh38] Chr2:109371537 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8385A>G (p.Glu2795=) | single nucleotide variant | not provided [RCV000920558] | Chr2:108775824 [GRCh38] Chr2:109392280 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.951A>G (p.Ala317=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000895933] | Chr2:108740657 [GRCh38] Chr2:109357113 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.1225A>G (p.Ile409Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000895327] | Chr2:108749081 [GRCh38] Chr2:109365537 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.9408G>A (p.Gln3136=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000981844] | Chr2:108783634 [GRCh38] Chr2:109400090 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.5800C>T (p.Arg1934Cys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001046539] | Chr2:108766339 [GRCh38] Chr2:109382795 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7364G>T (p.Arg2455Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001068371] | Chr2:108767903 [GRCh38] Chr2:109384359 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2038T>C (p.Tyr680His) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001214074] | Chr2:108753546 [GRCh38] Chr2:109370002 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4400C>T (p.Pro1467Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001218562] | Chr2:108764939 [GRCh38] Chr2:109381395 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.931G>A (p.Ala311Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001208279] | Chr2:108740637 [GRCh38] Chr2:109357093 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3484C>T (p.His1162Tyr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001208998] | Chr2:108764023 [GRCh38] Chr2:109380479 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5298G>T (p.Glu1766Asp) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001208999] | Chr2:108765837 [GRCh38] Chr2:109382293 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7625G>T (p.Gly2542Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001220553] | Chr2:108768164 [GRCh38] Chr2:109384620 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4949C>T (p.Thr1650Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001224899] | Chr2:108765488 [GRCh38] Chr2:109381944 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1756G>T (p.Gly586Cys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001196450] | Chr2:108752998 [GRCh38] Chr2:109369454 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7974C>G (p.Phe2658Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001217754] | Chr2:108771825 [GRCh38] Chr2:109388281 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.151A>G (p.Thr51Ala) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001241363] | Chr2:108730784 [GRCh38] Chr2:109347240 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.507C>G (p.Ile169Met) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001244063] | Chr2:108735633 [GRCh38] Chr2:109352089 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5579A>C (p.Lys1860Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001212060] | Chr2:108766118 [GRCh38] Chr2:109382574 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8415A>G (p.Ser2805=) | single nucleotide variant | not provided [RCV000935685] | Chr2:108775854 [GRCh38] Chr2:109392310 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.5093C>T (p.Thr1698Ile) | single nucleotide variant | not provided [RCV000997190] | Chr2:108765632 [GRCh38] Chr2:109382088 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8262A>G (p.Gln2754=) | single nucleotide variant | not provided [RCV000913693] | Chr2:108773016 [GRCh38] Chr2:109389472 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8700T>C (p.Ser2900=) | single nucleotide variant | not provided [RCV000934734] | Chr2:108781369 [GRCh38] Chr2:109397825 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.8020+7C>T | single nucleotide variant | not provided [RCV000935220] | Chr2:108771878 [GRCh38] Chr2:109388334 [GRCh37] Chr2:2q13 |
likely benign |
NM_006267.5(RANBP2):c.970T>C (p.Phe324Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001043830] | Chr2:108740676 [GRCh38] Chr2:109357132 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) | single nucleotide variant | Hypohidrotic ectodermal dysplasia [RCV001134063]|not provided [RCV000143983] | Chr2:108929347 [GRCh38] Chr2:109545803 [GRCh37] Chr2:2q13 |
benign|likely benign|not provided |
NM_006267.5(RANBP2):c.3220A>G (p.Lys1074Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001071674] | Chr2:108763759 [GRCh38] Chr2:109380215 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3384T>G (p.Ser1128Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001068306] | Chr2:108763923 [GRCh38] Chr2:109380379 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6439T>G (p.Leu2147Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001069070] | Chr2:108766978 [GRCh38] Chr2:109383434 [GRCh37] Chr2:2q13 |
uncertain significance |
NC_000002.12:g.(?_107988146)_(108963283_?)del | deletion | Neuronopathy, distal hereditary motor, type viia [RCV001031168] | Chr2:108604602..109579739 [GRCh37] Chr2:2q12.3 |
uncertain significance |
NM_006267.5(RANBP2):c.8599+3A>G | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001211543] | Chr2:108777234 [GRCh38] Chr2:109393690 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5251A>G (p.Ser1751Gly) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001215743] | Chr2:108765790 [GRCh38] Chr2:109382246 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.80T>C (p.Met27Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001212424] | Chr2:108729139 [GRCh38] Chr2:109345595 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6605G>A (p.Gly2202Asp) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001235722] | Chr2:108767144 [GRCh38] Chr2:109383600 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8438T>C (p.Met2813Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001215855] | Chr2:108775877 [GRCh38] Chr2:109392333 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6323T>C (p.Leu2108Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001233322] | Chr2:108766862 [GRCh38] Chr2:109383318 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.917A>G (p.Asn306Ser) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001212102] | Chr2:108740623 [GRCh38] Chr2:109357079 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1961T>A (p.Phe654Tyr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001217485] | Chr2:108753469 [GRCh38] Chr2:109369925 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2198A>G (p.Lys733Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001060386] | Chr2:108753967 [GRCh38] Chr2:109370423 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2267A>G (p.Tyr756Cys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001233477] | Chr2:108754969 [GRCh38] Chr2:109371425 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2241T>G (p.Asn747Lys) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001060652] | Chr2:108754943 [GRCh38] Chr2:109371399 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6275C>T (p.Thr2092Met) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001060674] | Chr2:108766814 [GRCh38] Chr2:109383270 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7471G>C (p.Ala2491Pro) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001036183] | Chr2:108768010 [GRCh38] Chr2:109384466 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5180A>G (p.Gln1727Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001050767] | Chr2:108765719 [GRCh38] Chr2:109382175 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5675C>T (p.Pro1892Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001042652] | Chr2:108766214 [GRCh38] Chr2:109382670 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7892A>T (p.Asp2631Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001061303] | Chr2:108771743 [GRCh38] Chr2:109388199 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.6150T>G (p.Ser2050Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001247980] | Chr2:108766689 [GRCh38] Chr2:109383145 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4206G>C (p.Glu1402Asp) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001057765] | Chr2:108764745 [GRCh38] Chr2:109381201 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.542T>G (p.Leu181Trp) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001205453] | Chr2:108735668 [GRCh38] Chr2:109352124 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7191G>T (p.Gly2397=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001051024] | Chr2:108767730 [GRCh38] Chr2:109384186 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7943C>T (p.Ala2648Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001057822] | Chr2:108771794 [GRCh38] Chr2:109388250 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1213G>A (p.Asp405Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001058241] | Chr2:108749069 [GRCh38] Chr2:109365525 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.3754A>T (p.Met1252Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001204780] | Chr2:108764293 [GRCh38] Chr2:109380749 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4183T>C (p.Phe1395Leu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001217308] | Chr2:108764722 [GRCh38] Chr2:109381178 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7125C>A (p.Asp2375Glu) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001235063] | Chr2:108767664 [GRCh38] Chr2:109384120 [GRCh37] Chr2:2q13 |
uncertain significance |
NC_000002.12:g.(?_107988146)_(108963283_?)dup | duplication | Neuronopathy, distal hereditary motor, type viia [RCV001033739] | Chr2:108604602..109579739 [GRCh37] Chr2:2q12.3 |
uncertain significance |
NM_006267.5(RANBP2):c.3908G>C (p.Ser1303Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001233640] | Chr2:108764447 [GRCh38] Chr2:109380903 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8360T>G (p.Val2787Gly) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001232833] | Chr2:108775799 [GRCh38] Chr2:109392255 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.1063+3A>G | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001049566] | Chr2:108746801 [GRCh38] Chr2:109363257 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4294G>A (p.Val1432Ile) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001229685] | Chr2:108764833 [GRCh38] Chr2:109381289 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.4403T>C (p.Ile1468Thr) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001230335] | Chr2:108764942 [GRCh38] Chr2:109381398 [GRCh37] Chr2:2q13 |
uncertain significance |
NC_000002.12:g.(?_108719587)_(108740701_?)del | deletion | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001033268] | Chr2:109336043..109357157 [GRCh37] Chr2:2q12.3 |
uncertain significance |
NM_006267.5(RANBP2):c.4789A>G (p.Ser1597Gly) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001070048] | Chr2:108765328 [GRCh38] Chr2:109381784 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.8190A>C (p.Lys2730Asn) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001204135] | Chr2:108772944 [GRCh38] Chr2:109389400 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.7207T>G (p.Leu2403Val) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001057156] | Chr2:108767746 [GRCh38] Chr2:109384202 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.2056-9T>G | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001063251] | Chr2:108753816 [GRCh38] Chr2:109370272 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.5295G>A (p.Ser1765=) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001231063] | Chr2:108765834 [GRCh38] Chr2:109382290 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_006267.5(RANBP2):c.83A>G (p.Lys28Arg) | single nucleotide variant | Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001203400] | Chr2:108729142 [GRCh38] Chr2:109345598 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 | copy number loss | not provided [RCV001259645] | Chr2:107029680..113187742 [GRCh37] Chr2:2q12.2-13 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:9848 | AgrOrtholog |
COSMIC | RANBP2 | COSMIC |
Ensembl Genes | ENSG00000153201 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000283195 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000398970 | UniProtKB/TrEMBL | |
ENSP00000485979 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000283195 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000425282 | UniProtKB/TrEMBL | |
ENST00000629728 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.30.29.30 | UniProtKB/Swiss-Prot | |
2.40.100.10 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000153201 | GTEx |
HGNC ID | HGNC:9848 | ENTREZGENE |
Human Proteome Map | RANBP2 | Human Proteome Map |
InterPro | Cyclophilin-like_dom_sf | UniProtKB/Swiss-Prot |
Cyclophilin-type_PPIase_CS | UniProtKB/Swiss-Prot | |
Cyclophilin-type_PPIase_dom | UniProtKB/Swiss-Prot | |
IR1-M | UniProtKB/Swiss-Prot | |
PH-like_dom_sf | UniProtKB/Swiss-Prot | |
Ran_bind_dom | UniProtKB/Swiss-Prot | |
TPR-contain_dom | UniProtKB/Swiss-Prot | |
TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TPR_repeat | UniProtKB/Swiss-Prot | |
Znf_RanBP2 | UniProtKB/Swiss-Prot | |
Znf_RanBP2_sf | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:5903 | UniProtKB/Swiss-Prot |
NCBI Gene | 5903 | ENTREZGENE |
OMIM | 601181 | OMIM |
608033 | OMIM | |
Pfam | IR1-M | UniProtKB/Swiss-Prot |
Pro_isomerase | UniProtKB/Swiss-Prot | |
Ran_BP1 | UniProtKB/Swiss-Prot | |
zf-RanBP | UniProtKB/Swiss-Prot | |
PharmGKB | PA34209 | PharmGKB |
PRINTS | CSAPPISMRASE | UniProtKB/Swiss-Prot |
PROSITE | CSA_PPIASE_1 | UniProtKB/Swiss-Prot |
CSA_PPIASE_2 | UniProtKB/Swiss-Prot | |
RANBD1 | UniProtKB/Swiss-Prot | |
TPR | UniProtKB/Swiss-Prot | |
TPR_REGION | UniProtKB/Swiss-Prot | |
ZF_RANBP2_1 | UniProtKB/Swiss-Prot | |
ZF_RANBP2_2 | UniProtKB/Swiss-Prot | |
SMART | RanBD | UniProtKB/Swiss-Prot |
TPR | UniProtKB/Swiss-Prot | |
ZnF_RBZ | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF48452 | UniProtKB/Swiss-Prot |
SSF50891 | UniProtKB/Swiss-Prot | |
SSF90209 | UniProtKB/Swiss-Prot | |
UniProt | F8WBP7_HUMAN | UniProtKB/TrEMBL |
P49792 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q13074 | UniProtKB/Swiss-Prot |
Q15280 | UniProtKB/Swiss-Prot | |
Q53TE2 | UniProtKB/Swiss-Prot | |
Q59FH7 | UniProtKB/Swiss-Prot |