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Imported Disease Annotations - OMIM |
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Imported Disease Annotations - OMIM |
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1. | Andres DA, etal., Cell 1993 Jun 18;73(6):1091-9. |
2. | GOA_HUMAN data from the GO Consortium |
3. | OMIM Disease Annotation Pipeline |
4. | Online Mendelian Inheritance in Man, OMIM (TM). |
5. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
6. | RGD automated import pipeline for gene-chemical interactions |
7. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:1302003 | PMID:1373238 | PMID:1549574 | PMID:1598901 | PMID:1904992 | PMID:2215697 | PMID:2220804 | PMID:7951216 | PMID:7957092 | PMID:7981670 | PMID:8294464 | PMID:8380507 |
PMID:8477262 | PMID:8889548 | PMID:9437002 | PMID:9563513 | PMID:10022613 | PMID:11141079 | PMID:11297488 | PMID:11886217 | PMID:12477932 | PMID:12535645 | PMID:12576024 | PMID:12620235 |
PMID:12827496 | PMID:14566650 | PMID:14702039 | PMID:15186776 | PMID:15242790 | PMID:15465555 | PMID:15579993 | PMID:15772651 | PMID:16087855 | PMID:16344560 | PMID:16936131 | PMID:17698759 |
PMID:18029348 | PMID:18087237 | PMID:18385043 | PMID:18487380 | PMID:18532927 | PMID:18773267 | PMID:19376587 | PMID:19422966 | PMID:19427510 | PMID:19597113 | PMID:19764077 | PMID:20027300 |
PMID:20301511 | PMID:21873635 | PMID:21905166 | PMID:21939745 | PMID:21990357 | PMID:22025891 | PMID:22355242 | PMID:22965595 | PMID:23273018 | PMID:23940504 | PMID:24556642 | PMID:24672218 |
PMID:24913019 | PMID:25722215 | PMID:25912515 | PMID:26186194 | PMID:26216097 | PMID:26344197 | PMID:26472337 | PMID:26496610 | PMID:26720468 | PMID:27070432 | PMID:27329764 | PMID:27820636 |
PMID:28055019 | PMID:28230863 | PMID:28271586 | PMID:28514442 | PMID:28643494 | PMID:28752371 | PMID:28774736 | PMID:28846638 | PMID:28911202 | PMID:29367200 | PMID:29449217 | PMID:29555028 |
PMID:29568061 | PMID:29620233 | PMID:29721948 | PMID:29940166 | PMID:30297895 | PMID:30308560 | PMID:30995293 | PMID:32097478 | PMID:32364220 | PMID:32985515 | PMID:33538369 |
CHM (Homo sapiens - human) |
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Chm (Mus musculus - house mouse) |
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Chm (Rattus norvegicus - Norway rat) |
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Chm (Chinchilla lanigera - long-tailed chinchilla) |
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CHM (Pan paniscus - bonobo/pygmy chimpanzee) |
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CHM (Canis lupus familiaris - dog) |
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Chm (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CHM (Sus scrofa - pig) |
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CHM (Chlorocebus sabaeus - African green monkey) |
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Chm (Heterocephalus glaber - naked mole-rat) |
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DXS8326 |
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GDB:636379 |
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GDB:636299 |
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RH119297 |
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GDB:271316 |
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GDB:271320 |
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GDB:452659 |
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GDB:636308 |
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GDB:636311 |
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GDB:636322 |
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GDB:636328 |
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GDB:636338 |
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GDB:636342 |
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GDB:636348 |
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WI-11849 |
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PMC22091P1 |
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CHM_8255 |
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STS-M83773 |
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RH112 |
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RH46170 |
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CHM |
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RH80031 |
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L29953 |
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GDB:437724 |
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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 | 120 | 283 | 145 | 24 | 352 | 25 | 551 | 56 | 417 | 149 | 271 | 280 | 12 | 1 | 23 | 288 | 4 | 2 |
Low | 2319 | 2419 | 1581 | 600 | 1355 | 440 | 3806 | 2097 | 3311 | 268 | 1189 | 1332 | 163 | 1181 | 2500 | 2 | ||
Below cutoff | 289 | 244 | 44 | 6 | 2 | 1 |
RefSeq Transcripts | NG_009874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_000390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001145414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001320959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001362517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001362518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001362519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017029242 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017029246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024452331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AH007342 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK095883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL009175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL022401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL035451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL138748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY255796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC032237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC063522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC065702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC073987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC105969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC130494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC130496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU688880 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA403806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB231066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FB775572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF459204 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF510693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M83773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S60753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X57637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X78121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000357749 ⟹ ENSP00000350386 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000467744 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000483950 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000487515 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000615443 ⟹ ENSP00000484306 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_000390 ⟹ NP_000381 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001145414 ⟹ NP_001138886 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001320959 ⟹ NP_001307888 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001362517 ⟹ NP_001349446 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001362518 ⟹ NP_001349447 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001362519 ⟹ NP_001349448 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_017029242 ⟹ XP_016884731 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017029246 ⟹ XP_016884735 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024452331 ⟹ XP_024308099 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_000381 | (Get FASTA) | NCBI Sequence Viewer |
NP_001138886 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001307888 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001349446 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001349447 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001349448 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016884731 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016884735 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024308099 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA61032 | (Get FASTA) | NCBI Sequence Viewer |
AAD13814 | (Get FASTA) | NCBI Sequence Viewer | |
AAD14934 | (Get FASTA) | NCBI Sequence Viewer | |
AAH65702 | (Get FASTA) | NCBI Sequence Viewer | |
AAH73987 | (Get FASTA) | NCBI Sequence Viewer | |
AAI05970 | (Get FASTA) | NCBI Sequence Viewer | |
AAI30495 | (Get FASTA) | NCBI Sequence Viewer | |
AAI30497 | (Get FASTA) | NCBI Sequence Viewer | |
AAP15253 | (Get FASTA) | NCBI Sequence Viewer | |
BAC04640 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83849 | (Get FASTA) | NCBI Sequence Viewer | |
BAG61331 | (Get FASTA) | NCBI Sequence Viewer | |
CAA40855 | (Get FASTA) | NCBI Sequence Viewer | |
CAA55011 | (Get FASTA) | NCBI Sequence Viewer | |
CAV30743 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98559 | (Get FASTA) | NCBI Sequence Viewer | |
P24386 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_000381 ⟸ NM_000390 |
- Peptide Label: | isoform a |
- UniProtKB: | P24386 (UniProtKB/Swiss-Prot), A8K545 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001138886 ⟸ NM_001145414 |
- Peptide Label: | isoform b |
- UniProtKB: | P24386 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001307888 ⟸ NM_001320959 |
- Peptide Label: | isoform c |
- UniProtKB: | P24386 (UniProtKB/Swiss-Prot), A8K545 (UniProtKB/TrEMBL), B4DRL9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016884735 ⟸ XM_017029246 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DRL9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016884731 ⟸ XM_017029242 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_024308099 ⟸ XM_024452331 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | NP_001349448 ⟸ NM_001362519 |
- Peptide Label: | isoform c |
RefSeq Acc Id: | NP_001349446 ⟸ NM_001362517 |
- Peptide Label: | isoform c |
RefSeq Acc Id: | NP_001349447 ⟸ NM_001362518 |
- Peptide Label: | isoform c |
RefSeq Acc Id: | ENSP00000484306 ⟸ ENST00000615443 |
RefSeq Acc Id: | ENSP00000350386 ⟸ ENST00000357749 |
RGD ID: | 6808569 | ||||||||
Promoter ID: | HG_KWN:67404 | ||||||||
Type: | Non-CpG | ||||||||
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: | ENST00000358786, NM_000390, OTTHUMT00000057398, OTTHUMT00000057399, UC004EEU.2 | ||||||||
Position: |
|
RGD ID: | 13627566 | ||||||||
Promoter ID: | EPDNEW_H29058 | ||||||||
Type: | initiation region | ||||||||
Name: | CHM_1 | ||||||||
Description: | CHM, Rab escort protein 1 | ||||||||
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_000390.4(CHM):c.1520A>G (p.His507Arg) | single nucleotide variant | Choroideremia [RCV000033030] | ChrX:85879054 [GRCh38] ChrX:85134059 [GRCh37] ChrX:Xq21.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 | copy number gain | See cases [RCV000133911] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) | single nucleotide variant | Choroideremia [RCV000132595]|not provided [RCV000519231] | ChrX:85958872 [GRCh38] ChrX:85213877 [GRCh37] ChrX:Xq21.2 |
pathogenic |
CHM, IVS13DS, INS T, +2 | insertion | Choroideremia, Salla type [RCV000011897] | ChrX:Xq21.2 | pathogenic |
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) | indel | Choroideremia [RCV000011898] | ChrX:85900700..85900701 [GRCh38] ChrX:85155705..85155706 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) | single nucleotide variant | Choroideremia [RCV000011899]|not provided [RCV001092045] | ChrX:85894214 [GRCh38] ChrX:85149219 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) | single nucleotide variant | Choroideremia [RCV000011900] | ChrX:85894227 [GRCh38] ChrX:85149232 [GRCh37] ChrX:Xq21.2 |
pathogenic |
CHM, 1-BP DEL, GGA146GA, FS159TER | deletion | Choroideremia [RCV000011901] | ChrX:Xq21.2 | pathogenic |
NM_000390.4(CHM):c.1580_1583TGTT[1] (p.Val529fs) | microsatellite | Choroideremia [RCV000011902]|Retinal dystrophy [RCV001073513] | ChrX:85878987..85878990 [GRCh38] ChrX:85133992..85133995 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) | single nucleotide variant | Choroideremia [RCV000011903] | ChrX:85894201 [GRCh38] ChrX:85149206 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) | single nucleotide variant | Choroideremia [RCV000011904]|not provided [RCV000078687] | ChrX:85957918 [GRCh38] ChrX:85212923 [GRCh37] ChrX:Xq21.2 |
pathogenic |
CHM, L1 INS | insertion | Choroideremia [RCV000011906] | ChrX:Xq21.2 | pathogenic |
NM_000390.4(CHM):c.1609+2T>A | single nucleotide variant | not provided [RCV000520979] | ChrX:85878963 [GRCh38] ChrX:85133968 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.2(CHM):c.1167-282T>G | single nucleotide variant | Lung cancer [RCV000102856] | ChrX:85911620 [GRCh38] ChrX:85166625 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1609+2dup | duplication | Choroideremia [RCV000049636] | ChrX:85878962..85878963 [GRCh38] ChrX:85133967..85133968 [GRCh37] ChrX:Xq21.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 | copy number gain | See cases [RCV000050889] | ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 | copy number gain | See cases [RCV000050810] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 | copy number loss | See cases [RCV000050811] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1 | copy number loss | See cases [RCV000050772] | ChrX:79372269..91308122 [GRCh38] ChrX:78627766..90563121 [GRCh37] ChrX:78514422..90449777 [NCBI36] ChrX:Xq21.1-21.31 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 | copy number loss | See cases [RCV000051665] | ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 | copy number loss | See cases [RCV000051666] | ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)x1 | copy number loss | See cases [RCV000051707] | ChrX:81762602..86457999 [GRCh38] ChrX:81018101..85713002 [GRCh37] ChrX:80904757..85599658 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0 | copy number loss | See cases [RCV000051709] | ChrX:81765008..86444979 [GRCh38] ChrX:81020507..85699982 [GRCh37] ChrX:80907163..85586638 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 | copy number loss | See cases [RCV000051668] | ChrX:77544283..110500317 [GRCh38] ChrX:76799762..109743545 [GRCh37] ChrX:76686418..109630201 [NCBI36] ChrX:Xq21.1-23 |
pathogenic |
GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1 | copy number loss | See cases [RCV000051670] | ChrX:80329330..86150446 [GRCh38] ChrX:79584829..85405450 [GRCh37] ChrX:79471485..85292106 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1 | copy number loss | See cases [RCV000051673] | ChrX:81762601..86471468 [GRCh38] ChrX:81018100..85726471 [GRCh37] ChrX:80904756..85613127 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] | ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 | copy number gain | See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 | copy number gain | See cases [RCV000052359] | ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] | ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 | copy number gain | See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 | copy number gain | See cases [RCV000052438] | ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 | copy number loss | See cases [RCV000053005] | ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 | copy number gain | See cases [RCV000133654] | ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter) | single nucleotide variant | not provided [RCV000171441] | ChrX:85956175 [GRCh38] ChrX:85211180 [GRCh37] ChrX:Xq21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 | copy number loss | See cases [RCV000133792] | ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 | copy number gain | See cases [RCV000133744] | ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 | copy number gain | See cases [RCV000134564] | ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 | copy number loss | See cases [RCV000134570] | ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 | copy number loss | See cases [RCV000133947] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 | copy number gain | See cases [RCV000134025] | ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 | copy number loss | See cases [RCV000135300] | ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 | copy number loss | See cases [RCV000135321] | ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 | copy number loss | See cases [RCV000135306] | ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31 |
pathogenic |
GRCh38/hg38 Xq21.1-21.2(chrX:81930916-85965282)x1 | copy number loss | See cases [RCV000135328] | ChrX:81930916..85965282 [GRCh38] ChrX:81186415..85220287 [GRCh37] ChrX:81073071..85106943 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 | copy number loss | See cases [RCV000134958] | ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 | copy number loss | See cases [RCV000135552] | ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 | copy number loss | See cases [RCV000135454] | ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 | copy number loss | See cases [RCV000136097] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 | copy number loss | See cases [RCV000136005] | ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) | copy number loss | See cases [RCV000136094] | ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 | copy number loss | See cases [RCV000136083] | ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 | copy number loss | See cases [RCV000137113] | ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 | copy number gain | See cases [RCV000136841] | ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 | copy number gain | See cases [RCV000136791] | ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 | copy number gain | See cases [RCV000137553] | ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 | copy number loss | See cases [RCV000137414] | ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 | copy number loss | See cases [RCV000137138] | ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 | copy number loss | See cases [RCV000137886] | ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 | copy number loss | See cases [RCV000138678] | ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 | copy number loss | See cases [RCV000138787] | ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 | copy number loss | See cases [RCV000139400] | ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 | copy number gain | See cases [RCV000139416] | ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 | copy number loss | See cases [RCV000139352] | ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
GRCh38/hg38 Xq21.1-21.31(chrX:85396423-87061496)x3 | copy number gain | See cases [RCV000138988] | ChrX:85396423..87061496 [GRCh38] ChrX:84651428..86316499 [GRCh37] ChrX:84538084..86203155 [NCBI36] ChrX:Xq21.1-21.31 |
likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 | copy number gain | See cases [RCV000139888] | ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-21.31(chrX:80722314-92152619)x0 | copy number loss | See cases [RCV000139635] | ChrX:80722314..92152619 [GRCh38] ChrX:79977813..91407618 [GRCh37] ChrX:79864469..91294274 [NCBI36] ChrX:Xq21.1-21.31 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 | copy number gain | See cases [RCV000141400] | ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 | copy number gain | See cases [RCV000141401] | ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 | copy number gain | See cases [RCV000140786] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 | copy number loss | See cases [RCV000140787] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 | copy number loss | See cases [RCV000141825] | ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) | copy number loss | See cases [RCV000141742] | ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24 |
pathogenic |
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 | copy number loss | See cases [RCV000142372] | ChrX:81109470..109442793 [GRCh38] ChrX:80364969..108686022 [GRCh37] ChrX:80251625..108572678 [NCBI36] ChrX:Xq21.1-23 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 | copy number loss | See cases [RCV000142337] | ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.2(chrX:85881568-86228805)x3 | copy number gain | See cases [RCV000142232] | ChrX:85881568..86228805 [GRCh38] ChrX:85136573..85483808 [GRCh37] ChrX:85023229..85370464 [NCBI36] ChrX:Xq21.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 | copy number gain | See cases [RCV000142134] | ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
GRCh38/hg38 Xq21.1-21.2(chrX:85089622-85949735)x2 | copy number gain | See cases [RCV000143106] | ChrX:85089622..85949735 [GRCh38] ChrX:84344628..85204740 [GRCh37] ChrX:84231284..85091396 [NCBI36] ChrX:Xq21.1-21.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 | copy number gain | See cases [RCV000142625] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 | copy number loss | See cases [RCV000143424] | ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 | copy number loss | See cases [RCV000143349] | ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 | copy number loss | See cases [RCV000143441] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 | copy number gain | See cases [RCV000143433] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 | copy number loss | See cases [RCV000143132] | ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 | copy number gain | See cases [RCV000143219] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000148135] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000148141] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.116+1G>A | single nucleotide variant | Choroideremia [RCV000169622]|Retinal dystrophy [RCV001075041]|not provided [RCV001268402] | ChrX:86027490 [GRCh38] ChrX:85282494 [GRCh37] ChrX:Xq21.2 |
pathogenic|likely pathogenic |
NM_000390.4(CHM):c.957A>G (p.Thr319=) | single nucleotide variant | Choroideremia [RCV001274745]|not provided [RCV000180152] | ChrX:85956362 [GRCh38] ChrX:85211367 [GRCh37] ChrX:Xq21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 | copy number gain | See cases [RCV000240143] | ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) | single nucleotide variant | Choroideremia [RCV000763635]|not provided [RCV000302207] | ChrX:85958965 [GRCh38] ChrX:85213970 [GRCh37] ChrX:Xq21.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter) | single nucleotide variant | not provided [RCV000578632] | ChrX:85911287 [GRCh38] ChrX:85166292 [GRCh37] ChrX:Xq21.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.116+1G>T | single nucleotide variant | Retinal dystrophy [RCV001075589]|not provided [RCV000354112] | ChrX:86027490 [GRCh38] ChrX:85282494 [GRCh37] ChrX:Xq21.2 |
pathogenic|likely pathogenic |
NC_000023.10:g.36649710_136649711del100000002insG | indel | Heterotaxy, visceral, 1, X-linked [RCV000754886] | ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 | copy number gain | See cases [RCV000240148] | ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 | copy number gain | See cases [RCV000240541] | ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.351A>G (p.Ala117=) | single nucleotide variant | not specified [RCV000247183] | ChrX:85964016 [GRCh38] ChrX:85219021 [GRCh37] ChrX:Xq21.2 |
benign |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 | copy number gain | See cases [RCV000240464] | ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 | copy number gain | See cases [RCV000240314] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.1138C>T (p.Gln380Ter) | single nucleotide variant | not provided [RCV000285432] | ChrX:85956181 [GRCh38] ChrX:85211186 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1488G>A (p.Thr496=) | single nucleotide variant | not provided [RCV000872533]|not specified [RCV000376529] | ChrX:85894210 [GRCh38] ChrX:85149215 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.49+1G>T | single nucleotide variant | not provided [RCV000313760] | ChrX:86047483 [GRCh38] ChrX:85302487 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.315_318del (p.Ser105Argfs) | deletion | Retinal dystrophy [RCV001073362]|not provided [RCV000319155] | ChrX:85964049..85964052 [GRCh38] ChrX:85219054..85219057 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) | single nucleotide variant | Choroideremia [RCV001002947]|Retinal dystrophy [RCV001074621]|not provided [RCV000320612] | ChrX:85958881 [GRCh38] ChrX:85213886 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1244+8T>A | single nucleotide variant | Choroideremia [RCV001274743]|not provided [RCV000389318] | ChrX:85911253 [GRCh38] ChrX:85166258 [GRCh37] ChrX:Xq21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000390.4(CHM):c.525_526del (p.Glu177fs) | deletion | Retinal dystrophy [RCV001073739]|not provided [RCV000355316] | ChrX:85963841..85963842 [GRCh38] ChrX:85218846..85218847 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1100G>T (p.Arg367Leu) | single nucleotide variant | not specified [RCV000355549] | ChrX:85956219 [GRCh38] ChrX:85211224 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.645_648TACT[1] (p.Tyr217fs) | microsatellite | not provided [RCV000374975] | ChrX:85963715..85963718 [GRCh38] ChrX:85218720..85218723 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.969T>A (p.Tyr323Ter) | single nucleotide variant | not provided [RCV000379861] | ChrX:85956350 [GRCh38] ChrX:85211355 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.117-7G>T | single nucleotide variant | not provided [RCV000328889] | ChrX:85981816 [GRCh38] ChrX:85236820 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.189+5A>G | single nucleotide variant | Choroideremia [RCV000408835] | ChrX:85981732 [GRCh38] ChrX:85236736 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.130G>T (p.Gly44Ter) | single nucleotide variant | not provided [RCV000259262] | ChrX:85981796 [GRCh38] ChrX:85236800 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.757C>T (p.Arg253Ter) | single nucleotide variant | Retinitis pigmentosa [RCV000787565]|not provided [RCV000265578] | ChrX:85958923 [GRCh38] ChrX:85213928 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.315-4564C>G | single nucleotide variant | not provided [RCV000488021] | ChrX:85968616 [GRCh38] ChrX:85223621 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 | copy number gain | not provided [RCV000488046] | ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
NM_000390.4(CHM):c.280del (p.Thr94fs) | deletion | Choroideremia [RCV000625730] | ChrX:85978801 [GRCh38] ChrX:85233805 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.962A>G (p.Tyr321Cys) | single nucleotide variant | not provided [RCV001052057] | ChrX:85956357 [GRCh38] ChrX:85211362 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1771-8T>C | single nucleotide variant | not provided [RCV000592998] | ChrX:85864829 [GRCh38] ChrX:85119834 [GRCh37] ChrX:Xq21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000390.4(CHM):c.434C>T (p.Ser145Leu) | single nucleotide variant | not provided [RCV000593740] | ChrX:85963933 [GRCh38] ChrX:85218938 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.311C>G (p.Ala104Gly) | single nucleotide variant | not provided [RCV000875812]|not specified [RCV000591547] | ChrX:85978770 [GRCh38] ChrX:85233774 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.1019C>A (p.Ser340Ter) | single nucleotide variant | not provided [RCV000414588] | ChrX:85956300 [GRCh38] ChrX:85211305 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del | deletion | Retinal dystrophy [RCV000416295] | ChrX:Xq21.2 | likely pathogenic |
NM_000390.4(CHM):c.1437dup (p.Glu480fs) | duplication | not provided [RCV000412929] | ChrX:85894260..85894261 [GRCh38] ChrX:85149265..85149266 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1A>G (p.Met1Val) | single nucleotide variant | Choroideremia [RCV000412301] | ChrX:86047532 [GRCh38] ChrX:85302536 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.1213C>T (p.Gln405Ter) | single nucleotide variant | not provided [RCV000413451] | ChrX:85911292 [GRCh38] ChrX:85166297 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1342C>T (p.Gln448Ter) | single nucleotide variant | not provided [RCV000414063] | ChrX:85901091 [GRCh38] ChrX:85156096 [GRCh37] ChrX:Xq21.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.1771-1G>A | single nucleotide variant | not provided [RCV000522740] | ChrX:85864822 [GRCh38] ChrX:85119827 [GRCh37] ChrX:Xq21.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 | copy number gain | See cases [RCV000449437] | ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 | copy number loss | See cases [RCV000447490] | ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 | copy number gain | See cases [RCV000446151] | ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 | copy number gain | See cases [RCV000446310] | ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 | copy number gain | See cases [RCV000446471] | ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.265A>T (p.Ser89Cys) | single nucleotide variant | Choroideremia [RCV001000512]|not specified [RCV000441588] | ChrX:85978816 [GRCh38] ChrX:85233820 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.1100G>A (p.Arg367Gln) | single nucleotide variant | not provided [RCV000946242]|not specified [RCV000442531] | ChrX:85956219 [GRCh38] ChrX:85211224 [GRCh37] ChrX:Xq21.2 |
benign|likely benign |
NM_000390.4(CHM):c.49+5G>A | single nucleotide variant | not provided [RCV000419936] | ChrX:86047479 [GRCh38] ChrX:85302483 [GRCh37] ChrX:Xq21.2 |
pathogenic|likely pathogenic |
NM_000390.4(CHM):c.1334C>G (p.Ser445Ter) | single nucleotide variant | not provided [RCV000431379] | ChrX:85901099 [GRCh38] ChrX:85156104 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.133G>T (p.Gly45Ter) | single nucleotide variant | not provided [RCV000435190] | ChrX:85981793 [GRCh38] ChrX:85236797 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.315-4441G>C | single nucleotide variant | not specified [RCV000426695] | ChrX:85968493 [GRCh38] ChrX:85223498 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.315-1536A>G | single nucleotide variant | Abnormality of the eye [RCV000504914]|Retinal dystrophy [RCV000504724] | ChrX:85965588 [GRCh38] ChrX:85220593 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 | copy number gain | See cases [RCV000448034] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 | copy number loss | See cases [RCV000448652] | ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 | copy number gain | See cases [RCV000448394] | ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 | copy number loss | See cases [RCV000448870] | ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | See cases [RCV000448393] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.41dup (p.Gly15fs) | duplication | not provided [RCV000485407] | ChrX:86047491..86047492 [GRCh38] ChrX:85302495..85302496 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.866_867dup (p.Val290fs) | duplication | not provided [RCV000498941] | ChrX:85957927..85957928 [GRCh38] ChrX:85212932..85212933 [GRCh37] ChrX:Xq21.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 | copy number loss | See cases [RCV000510419] | ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 | copy number loss | See cases [RCV000511413] | ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic |
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 | copy number loss | See cases [RCV000512026] | ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 | copy number loss | See cases [RCV000511482] | ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 | copy number gain | See cases [RCV000511787] | ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 | copy number loss | See cases [RCV000510820] | ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) | copy number loss | See cases [RCV000510947] | ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 | copy number gain | See cases [RCV000510826] | ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 | copy number gain | See cases [RCV000511307] | ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_000390.4(CHM):c.820-2A>G | single nucleotide variant | Choroideremia [RCV000990895]|not provided [RCV000521080] | ChrX:85957977 [GRCh38] ChrX:85212982 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1413G>A (p.Gln471=) | single nucleotide variant | not provided [RCV000585239] | ChrX:85900646 [GRCh38] ChrX:85155651 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.75_77del (p.Ala26del) | deletion | Chorioretinal atrophy [RCV000626681] | ChrX:86027530..86027532 [GRCh38] ChrX:85282534..85282536 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 | copy number gain | See cases [RCV000512173] | ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_000390.4(CHM):c.1680del (p.Ser561fs) | deletion | not provided [RCV000658379] | ChrX:85873142 [GRCh38] ChrX:85128147 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 | copy number gain | not provided [RCV000684261] | ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
NM_000390.4(CHM):c.1511-6del | deletion | Choroideremia [RCV001001637] | ChrX:85879069 [GRCh38] ChrX:85134074 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.2:c.315_702del | deletion | Choroideremia [RCV001002949] | pathogenic | |
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 | copy number loss | not provided [RCV000753606] | ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 | copy number loss | not provided [RCV000753271] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.2-21.31(chrX:85271998-86201736)x3 | copy number gain | not provided [RCV000753636] | ChrX:85271998..86201736 [GRCh37] ChrX:Xq21.2-21.31 |
benign |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 | copy number gain | not provided [RCV000753272] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele | duplication | Autistic disorder of childhood onset [RCV000754365] | ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 | copy number loss | not provided [RCV000753556] | ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.8A>G (p.Asp3Gly) | single nucleotide variant | Choroideremia [RCV001277509]|not provided [RCV000874935] | ChrX:86047525 [GRCh38] ChrX:85302529 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.1437A>G (p.Ala479=) | single nucleotide variant | not provided [RCV000937536] | ChrX:85894261 [GRCh38] ChrX:85149266 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.819+1G>C | single nucleotide variant | Choroideremia [RCV001002946] | ChrX:85958860 [GRCh38] ChrX:85213865 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.660del (p.Ile221fs) | deletion | Choroideremia [RCV000787024] | ChrX:85963707 [GRCh38] ChrX:85218712 [GRCh37] ChrX:Xq21.2 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 | copy number loss | not provided [RCV001007318] | ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_000390.4(CHM):c.1217G>A (p.Cys406Tyr) | single nucleotide variant | not provided [RCV001057385] | ChrX:85911288 [GRCh38] ChrX:85166293 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.3G>A (p.Met1Ile) | single nucleotide variant | Retinitis pigmentosa [RCV000787564] | ChrX:86047530 [GRCh38] ChrX:85302534 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.591T>C (p.Ser197=) | single nucleotide variant | not provided [RCV000942709] | ChrX:85963776 [GRCh38] ChrX:85218781 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.582A>G (p.Glu194=) | single nucleotide variant | Choroideremia [RCV001274748]|not provided [RCV000969806] | ChrX:85963785 [GRCh38] ChrX:85218790 [GRCh37] ChrX:Xq21.2 |
benign|uncertain significance |
NM_000390.4(CHM):c.18T>A (p.Pro6=) | single nucleotide variant | not provided [RCV000943174] | ChrX:86047515 [GRCh38] ChrX:85302519 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.483C>T (p.Ser161=) | single nucleotide variant | not provided [RCV000892238] | ChrX:85963884 [GRCh38] ChrX:85218889 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.1713C>T (p.Asn571=) | single nucleotide variant | not provided [RCV000946265] | ChrX:85873109 [GRCh38] ChrX:85128114 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.1245-8_1245-6del | microsatellite | Choroideremia [RCV001274742]|not provided [RCV000878243] | ChrX:85901194..85901196 [GRCh38] ChrX:85156199..85156201 [GRCh37] ChrX:Xq21.2 |
benign|uncertain significance |
NM_000390.4(CHM):c.1349+10C>T | single nucleotide variant | Choroideremia [RCV001274741]|not provided [RCV000871485] | ChrX:85901074 [GRCh38] ChrX:85156079 [GRCh37] ChrX:Xq21.2 |
benign|uncertain significance |
NM_000390.4(CHM):c.1255A>G (p.Ile419Val) | single nucleotide variant | not provided [RCV000878591] | ChrX:85901178 [GRCh38] ChrX:85156183 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.820-1G>A | single nucleotide variant | Retinal dystrophy [RCV001075238] | ChrX:85957976 [GRCh38] ChrX:85212981 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.586del (p.Asp195_Met196insTer) | deletion | Retinal dystrophy [RCV001075297] | ChrX:85963781 [GRCh38] ChrX:85218786 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.535dup (p.Glu179fs) | duplication | Retinal dystrophy [RCV001075511] | ChrX:85963831..85963832 [GRCh38] ChrX:85218836..85218837 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NC_000023.10:g.(?_83372068)_(86924394_?)del | deletion | not provided [RCV001033923] | ChrX:83372068..86924394 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NC_000023.10:g.(?_82763333)_(86890775_?)del | deletion | not provided [RCV001033944] | ChrX:82763333..86890775 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NM_000390.4(CHM):c.190-2A>G | single nucleotide variant | not provided [RCV001039352] | ChrX:85978893 [GRCh38] ChrX:85233897 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.940G>A (p.Gly314Arg) | single nucleotide variant | not provided [RCV001041242] | ChrX:85957855 [GRCh38] ChrX:85212860 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NC_000023.10:g.(?_85115185)_(85303566_?)del | deletion | not provided [RCV001031585] | ChrX:85115185..85303566 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NC_000023.10:g.(?_83126460)_(86924394_?)del | deletion | not provided [RCV001032392] | ChrX:83126460..86924394 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NM_000390.4(CHM):c.1411C>T (p.Gln471Ter) | single nucleotide variant | Retinal dystrophy [RCV001073299] | ChrX:85900648 [GRCh38] ChrX:85155653 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.926C>T (p.Pro309Leu) | single nucleotide variant | Choroideremia [RCV001274746]|not provided [RCV001047944] | ChrX:85957869 [GRCh38] ChrX:85212874 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1454T>G (p.Phe485Cys) | single nucleotide variant | not provided [RCV001066123] | ChrX:85894244 [GRCh38] ChrX:85149249 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1377A>T (p.Thr459=) | single nucleotide variant | not provided [RCV000995983] | ChrX:85900682 [GRCh38] ChrX:85155687 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.1358_1359delinsG (p.Ile452_Ser453insTer) | indel | Retinal dystrophy [RCV001074196]|not provided [RCV001241864] | ChrX:85900700..85900701 [GRCh38] ChrX:85155705..85155706 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.189+1G>C | single nucleotide variant | Retinal dystrophy [RCV001074312] | ChrX:85981736 [GRCh38] ChrX:85236740 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.1770+2T>A | single nucleotide variant | Retinal dystrophy [RCV001074496] | ChrX:85873050 [GRCh38] ChrX:85128055 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NC_000023.10:g.(?_83576897)_(86924394_?)del | deletion | not provided [RCV001033207] | ChrX:83576897..86924394 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NG_009874.2:g.141225del | deletion | Retinal dystrophy [RCV001075063] | ChrX:85911338 [GRCh38] ChrX:85166343 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) | single nucleotide variant | Choroideremia [RCV000787004]|not provided [RCV001092880] | ChrX:86047511 [GRCh38] ChrX:85302515 [GRCh37] ChrX:Xq21.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000390.4(CHM):c.6G>T (p.Ala2=) | single nucleotide variant | not provided [RCV000941606] | ChrX:86047527 [GRCh38] ChrX:85302531 [GRCh37] ChrX:Xq21.2 |
likely benign |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_000390.4(CHM):c.702+7A>G | single nucleotide variant | not provided [RCV000979512] | ChrX:85963658 [GRCh38] ChrX:85218663 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.1332C>T (p.Cys444=) | single nucleotide variant | not provided [RCV000943891] | ChrX:85901101 [GRCh38] ChrX:85156106 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.1802A>G (p.Asn601Ser) | single nucleotide variant | not provided [RCV000865525] | ChrX:85864790 [GRCh38] ChrX:85119795 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.1920G>A (p.Lys640=) | single nucleotide variant | not provided [RCV000977627] | ChrX:85864672 [GRCh38] ChrX:85119677 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.1299C>T (p.Leu433=) | single nucleotide variant | not provided [RCV000952156] | ChrX:85901134 [GRCh38] ChrX:85156139 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.117-27dup | duplication | not provided [RCV000835085] | ChrX:85981820..85981821 [GRCh38] ChrX:85236824..85236825 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.162A>G (p.Gly54=) | single nucleotide variant | not provided [RCV000871541] | ChrX:85981764 [GRCh38] ChrX:85236768 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.1645G>C (p.Ala549Pro) | single nucleotide variant | Choroideremia [RCV000990892] | ChrX:85873177 [GRCh38] ChrX:85128182 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 | copy number loss | not provided [RCV000845670] | ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32 |
pathogenic |
NC_000023.10:g.(?_85119615)_(85302556_?)del | deletion | not provided [RCV000807234] | ChrX:85119615..85302556 [GRCh37] ChrX:Xq21.2 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 | copy number loss | not provided [RCV001007322] | ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) | single nucleotide variant | Choroideremia [RCV000990893] | ChrX:85879001 [GRCh38] ChrX:85134006 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NC_000023.10:g.85296959_85303375inv | inversion | Choroideremia [RCV000787471] | ChrX:86041956..86048370 [GRCh38] ChrX:85296960..85303374 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1678A>T (p.Ile560Phe) | single nucleotide variant | not provided [RCV000896960] | ChrX:85873144 [GRCh38] ChrX:85128149 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.619A>G (p.Thr207Ala) | single nucleotide variant | not provided [RCV000979375] | ChrX:85963748 [GRCh38] ChrX:85218753 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.1782T>C (p.Leu594=) | single nucleotide variant | Choroideremia [RCV001274739]|not provided [RCV000979833] | ChrX:85864810 [GRCh38] ChrX:85119815 [GRCh37] ChrX:Xq21.2 |
likely benign|uncertain significance |
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) | duplication | Choroideremia [RCV000990894] | ChrX:85956262..85956263 [GRCh38] ChrX:85211267..85211268 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.42_47delinsGGGAA (p.Ile14fs) | indel | not provided [RCV001009162] | ChrX:86047486..86047491 [GRCh38] ChrX:85302490..85302495 [GRCh37] ChrX:Xq21.2 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 | copy number loss | not provided [RCV000846274] | ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 | copy number loss | not provided [RCV000847338] | ChrX:74667077..90312981 [GRCh37] ChrX:Xq13.3-21.31 |
pathogenic |
NM_000390.4(CHM):c.539del (p.Asn180fs) | deletion | Choroideremia [RCV001197084] | ChrX:85963828 [GRCh38] ChrX:85218833 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 | copy number loss | not provided [RCV000848218] | ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
NM_000390.4(CHM):c.819+2T>G | single nucleotide variant | not provided [RCV001201554] | ChrX:85958859 [GRCh38] ChrX:85213864 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.934del (p.Tyr312fs) | deletion | not provided [RCV001225685] | ChrX:85957861 [GRCh38] ChrX:85212866 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1351C>T (p.Gln451Ter) | single nucleotide variant | not provided [RCV001236950] | ChrX:85900708 [GRCh38] ChrX:85155713 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.352C>G (p.Leu118Val) | single nucleotide variant | not provided [RCV001242636] | ChrX:85964015 [GRCh38] ChrX:85219020 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.5C>T (p.Ala2Val) | single nucleotide variant | not provided [RCV001242934] | ChrX:86047528 [GRCh38] ChrX:85302532 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1369del (p.Val456_Leu457insTer) | deletion | not provided [RCV001234923] | ChrX:85900690 [GRCh38] ChrX:85155695 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1893A>G (p.Ile631Met) | single nucleotide variant | not provided [RCV001223398] | ChrX:85864699 [GRCh38] ChrX:85119704 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1664G>C (p.Arg555Thr) | single nucleotide variant | not provided [RCV001218842] | ChrX:85873158 [GRCh38] ChrX:85128163 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1336del (p.Arg446fs) | deletion | not provided [RCV001241020] | ChrX:85901097 [GRCh38] ChrX:85156102 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.226C>T (p.Gln76Ter) | single nucleotide variant | not provided [RCV001212767] | ChrX:85978855 [GRCh38] ChrX:85233859 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.496_497GC[3] (p.Leu167fs) | microsatellite | Choroideremia [RCV001199667] | ChrX:85963867..85963868 [GRCh38] ChrX:85218872..85218873 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.141G>A (p.Trp47Ter) | single nucleotide variant | not provided [RCV001234034] | ChrX:85981785 [GRCh38] ChrX:85236789 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.286C>T (p.Gln96Ter) | single nucleotide variant | not provided [RCV001212672] | ChrX:85978795 [GRCh38] ChrX:85233799 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.419del (p.Pro140fs) | deletion | Choroideremia [RCV001199665] | ChrX:85963948 [GRCh38] ChrX:85218953 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.469C>T (p.Gln157Ter) | single nucleotide variant | Choroideremia [RCV001199666] | ChrX:85963898 [GRCh38] ChrX:85218903 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1380T>C (p.Asp460=) | single nucleotide variant | Choroideremia [RCV001277503]|not provided [RCV000878126] | ChrX:85900679 [GRCh38] ChrX:85155684 [GRCh37] ChrX:Xq21.2 |
benign|likely benign |
NM_000390.4(CHM):c.1008T>C (p.Ile336=) | single nucleotide variant | Choroideremia [RCV001274744]|not provided [RCV000874751] | ChrX:85956311 [GRCh38] ChrX:85211316 [GRCh37] ChrX:Xq21.2 |
benign|uncertain significance |
NM_000390.4(CHM):c.1383A>C (p.Arg461Ser) | single nucleotide variant | not provided [RCV000952168] | ChrX:85900676 [GRCh38] ChrX:85155681 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.1641G>T (p.Leu547=) | single nucleotide variant | Choroideremia [RCV001274740]|not provided [RCV000872007] | ChrX:85873181 [GRCh38] ChrX:85128186 [GRCh37] ChrX:Xq21.2 |
benign|likely benign |
NM_000390.4(CHM):c.1116A>G (p.Pro372=) | single nucleotide variant | not provided [RCV000887499] | ChrX:85956203 [GRCh38] ChrX:85211208 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.1922_1933dup (p.Leu645_Gly646insGlnSerThrAsn) | duplication | not provided [RCV000887584] | ChrX:85864658..85864659 [GRCh38] ChrX:85119663..85119664 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.1494A>G (p.Thr498=) | single nucleotide variant | not provided [RCV000941585] | ChrX:85894204 [GRCh38] ChrX:85149209 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.825G>A (p.Pro275=) | single nucleotide variant | Choroideremia [RCV001274747]|not provided [RCV000870871] | ChrX:85957970 [GRCh38] ChrX:85212975 [GRCh37] ChrX:Xq21.2 |
benign|uncertain significance |
NM_000390.4(CHM):c.190-5T>C | single nucleotide variant | not provided [RCV000979105] | ChrX:85978896 [GRCh38] ChrX:85233900 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.238C>T (p.Leu80Phe) | single nucleotide variant | Choroideremia [RCV001274749]|not provided [RCV000865421] | ChrX:85978843 [GRCh38] ChrX:85233847 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.1680_1681insTAACAGACATATAAC (p.Ser561Ter) | insertion | not provided [RCV001212213] | ChrX:85873141..85873142 [GRCh38] ChrX:85128146..85128147 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1273C>T (p.Gln425Ter) | single nucleotide variant | not provided [RCV001235454] | ChrX:85901160 [GRCh38] ChrX:85156165 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1648C>G (p.Leu550Val) | single nucleotide variant | not provided [RCV001238781] | ChrX:85873174 [GRCh38] ChrX:85128179 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1350-15_1350-10del | deletion | not provided [RCV001226392] | ChrX:85900719..85900724 [GRCh38] ChrX:85155724..85155729 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1511-2A>G | single nucleotide variant | not provided [RCV001062736] | ChrX:85879065 [GRCh38] ChrX:85134070 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1695dup (p.Asn566Ter) | duplication | not provided [RCV001205899] | ChrX:85873126..85873127 [GRCh38] ChrX:85128131..85128132 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.652_655del (p.Ser218fs) | deletion | not provided [RCV001205977] | ChrX:85963712..85963715 [GRCh38] ChrX:85218717..85218720 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NC_000023.11:g.(?_85956153)_(85956378_?)del | deletion | not provided [RCV001031124] | ChrX:85211158..85211383 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NC_000023.11:g.(?_85981737)_(86149108_?)del | deletion | not provided [RCV001031177] | ChrX:85236741..85404112 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NC_000023.10:g.(?_85211158)_(85404112_?)dup | duplication | not provided [RCV001031290] | ChrX:85211158..85404112 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NC_000023.11:g.(?_86027491)_(86047532_?)del | deletion | not provided [RCV001031478] | ChrX:85282495..85302536 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.127T>C (p.Tyr43His) | single nucleotide variant | Choroideremia [RCV001277506]|not provided [RCV001240903] | ChrX:85981799 [GRCh38] ChrX:85236803 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.235_236del (p.Ile79fs) | deletion | not provided [RCV001206310] | ChrX:85978845..85978846 [GRCh38] ChrX:85233849..85233850 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.940+1G>T | single nucleotide variant | not provided [RCV001228070] | ChrX:85957854 [GRCh38] ChrX:85212859 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.29_30del (p.Asp10fs) | deletion | Choroideremia [RCV000990896] | ChrX:86047503..86047504 [GRCh38] ChrX:85302507..85302508 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) | deletion | not provided [RCV001092042] | ChrX:85873167..85873171 [GRCh38] ChrX:85128172..85128176 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1644G>A (p.Trp548Ter) | single nucleotide variant | not provided [RCV001092043] | ChrX:85873178 [GRCh38] ChrX:85128183 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1531_1532insTCTTCTAAACAGCAT (p.Thr511delinsIlePheTer) | insertion | not provided [RCV001092044] | ChrX:85879042..85879043 [GRCh38] ChrX:85134047..85134048 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1413+1G>T | single nucleotide variant | Choroideremia [RCV001199668]|not provided [RCV001092046] | ChrX:85900645 [GRCh38] ChrX:85155650 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1359del (p.Arg454fs) | deletion | not provided [RCV001092047] | ChrX:85900700 [GRCh38] ChrX:85155705 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.924T>G (p.Tyr308Ter) | single nucleotide variant | not provided [RCV001092048] | ChrX:85957871 [GRCh38] ChrX:85212876 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.645del (p.Thr216fs) | deletion | not provided [RCV001092049] | ChrX:85963722 [GRCh38] ChrX:85218727 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.50-1G>C | single nucleotide variant | not provided [RCV001092879] | ChrX:86027558 [GRCh38] ChrX:85282562 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) | single nucleotide variant | Choroideremia [RCV001002945] | ChrX:85901119 [GRCh38] ChrX:85156124 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.126C>G (p.Tyr42Ter) | single nucleotide variant | not provided [RCV001067549] | ChrX:85981800 [GRCh38] ChrX:85236804 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1349+3A>C | single nucleotide variant | Retinal dystrophy [RCV001073432] | ChrX:85901081 [GRCh38] ChrX:85156086 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.1463G>T (p.Arg488Leu) | single nucleotide variant | Retinal dystrophy [RCV001073988] | ChrX:85894235 [GRCh38] ChrX:85149240 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.971T>G (p.Leu324Ter) | single nucleotide variant | Retinal dystrophy [RCV001074294] | ChrX:85956348 [GRCh38] ChrX:85211353 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NC_000023.10:g.(?_84634178)_(85404112_?)del | deletion | not provided [RCV001033627] | ChrX:84634178..85404112 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.385A>G (p.Asn129Asp) | single nucleotide variant | Retinal dystrophy [RCV001074936] | ChrX:85963982 [GRCh38] ChrX:85218987 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.653C>G (p.Ser218Ter) | single nucleotide variant | Retinal dystrophy [RCV001074941] | ChrX:85963714 [GRCh38] ChrX:85218719 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.1094_1095del (p.Leu365fs) | deletion | Retinal dystrophy [RCV001075011] | ChrX:85956224..85956225 [GRCh38] ChrX:85211229..85211230 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.819+1G>A | single nucleotide variant | Retinal dystrophy [RCV001075027] | ChrX:85958860 [GRCh38] ChrX:85213865 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.116C>T (p.Ser39Leu) | single nucleotide variant | Retinal dystrophy [RCV001075030] | ChrX:86027491 [GRCh38] ChrX:85282495 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1363del (p.Ala455fs) | deletion | Retinal dystrophy [RCV001075183] | ChrX:85900696 [GRCh38] ChrX:85155701 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.1245-1G>T | single nucleotide variant | not provided [RCV001049376] | ChrX:85901189 [GRCh38] ChrX:85156194 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.776A>G (p.Asn259Ser) | single nucleotide variant | Retinal dystrophy [RCV001075698]|not provided [RCV001052928] | ChrX:85958904 [GRCh38] ChrX:85213909 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1718_1719del (p.Tyr573fs) | deletion | not provided [RCV001042551] | ChrX:85873103..85873104 [GRCh38] ChrX:85128108..85128109 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.941-3dup | duplication | not provided [RCV001248598] | ChrX:85956380..85956381 [GRCh38] ChrX:85211385..85211386 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.564_565del (p.Pro189fs) | deletion | Choroideremia [RCV001002948] | ChrX:85963802..85963803 [GRCh38] ChrX:85218807..85218808 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.2:c.315_318del | deletion | Retinal dystrophy [RCV001073362]|not provided [RCV001066836] | pathogenic | |
NC_000023.10:g.(?_85090756)_(86924394_?)del | deletion | not provided [RCV001032367] | ChrX:85090756..86924394 [GRCh37] ChrX:Xq21.2-21.31 |
pathogenic |
NM_000390.4(CHM):c.481A>G (p.Ser161Gly) | single nucleotide variant | not provided [RCV001046170] | ChrX:85963886 [GRCh38] ChrX:85218891 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NC_000023.11:g.(?_85835751)_(85911338_?)dup | duplication | not provided [RCV001033070] | ChrX:85090756..85166343 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs) | indel | Choroideremia [RCV001199664] | ChrX:85963968..85963981 [GRCh38] ChrX:85218973..85218986 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.49+2T>C | single nucleotide variant | Retinal dystrophy [RCV001073288] | ChrX:86047482 [GRCh38] ChrX:85302486 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.436_439del (p.Leu146fs) | deletion | Retinal dystrophy [RCV001073370] | ChrX:85963928..85963931 [GRCh38] ChrX:85218933..85218936 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NC_000023.11:g.(?_85878965)_(85903741_?)del | deletion | not provided [RCV001033540] | ChrX:85133970..85158746 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.355C>T (p.Gln119Ter) | single nucleotide variant | Retinal dystrophy [RCV001073539] | ChrX:85964012 [GRCh38] ChrX:85219017 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.1446del (p.Gly483fs) | deletion | Retinal dystrophy [RCV001073784] | ChrX:85894252 [GRCh38] ChrX:85149257 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.1246T>C (p.Cys416Arg) | single nucleotide variant | not provided [RCV001202261] | ChrX:85901187 [GRCh38] ChrX:85156192 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.464C>A (p.Thr155Lys) | single nucleotide variant | not provided [RCV001205355] | ChrX:85963903 [GRCh38] ChrX:85218908 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NC_000023.10:g.(?_83372068)_(86890775_?)del | deletion | not provided [RCV001032728] | ChrX:83372068..86890775 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NC_000023.11:g.(?_85864630)_(85911338_?)del | deletion | not provided [RCV001033782] | ChrX:85119635..85166343 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NC_000023.10:g.(?_82763333)_(86924394_?)del | deletion | not provided [RCV001033898] | ChrX:82763333..86924394 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NM_000390.4(CHM):c.37del (p.Ile12_Val13insTer) | deletion | Retinal dystrophy [RCV001075742] | ChrX:86047496 [GRCh38] ChrX:85302500 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NC_000023.10:g.(?_85211158)_(85237732_?)dup | duplication | not provided [RCV001033071] | ChrX:85211158..85237732 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.437_440dup (p.Thr148fs) | duplication | not provided [RCV001066435] | ChrX:85963926..85963927 [GRCh38] ChrX:85218931..85218932 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NC_000023.10:g.(?_85211158)_(85237732_?)del | deletion | not provided [RCV001033470] | ChrX:85211158..85237732 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 | copy number gain | See cases [RCV001263024] | ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq21.2(chrX:85002027-85171444)x2 | copy number gain | not provided [RCV001259006] | ChrX:85002027..85171444 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
GRCh37/hg19 Xq21.2(chrX:85203910-85338467)x2 | copy number gain | not provided [RCV001259007] | ChrX:85203910..85338467 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.941-1G>T | single nucleotide variant | not provided [RCV001268035] | ChrX:85956379 [GRCh38] ChrX:85211384 [GRCh37] ChrX:Xq21.2 |
likely pathogenic |
NM_000390.4(CHM):c.262_263dup (p.Ser89fs) | microsatellite | not provided [RCV001268601] | ChrX:85978817..85978818 [GRCh38] ChrX:85233821..85233822 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.315-4587T>A | single nucleotide variant | not provided [RCV001268673] | ChrX:85968639 [GRCh38] ChrX:85223644 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_000390.4(CHM):c.29A>G (p.Asp10Gly) | single nucleotide variant | Choroideremia [RCV001277507] | ChrX:86047504 [GRCh38] ChrX:85302508 [GRCh37] ChrX:Xq21.2 |
benign |
NM_000390.4(CHM):c.10A>G (p.Thr4Ala) | single nucleotide variant | Choroideremia [RCV001277508] | ChrX:86047523 [GRCh38] ChrX:85302527 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 | copy number loss | not provided [RCV001259005] | ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25 |
pathogenic |
NM_000390.4(CHM):c.368C>T (p.Ala123Val) | single nucleotide variant | not provided [RCV001341749] | ChrX:85963999 [GRCh38] ChrX:85219004 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.99A>T (p.Arg33Ser) | single nucleotide variant | not provided [RCV001308436] | ChrX:86027508 [GRCh38] ChrX:85282512 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 | copy number gain | not provided [RCV001281359] | ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_000390.4(CHM):c.1609+3A>T | single nucleotide variant | not provided [RCV001320638] | ChrX:85878962 [GRCh38] ChrX:85133967 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.153C>A (p.Ser51Arg) | single nucleotide variant | not provided [RCV001338280] | ChrX:85981773 [GRCh38] ChrX:85236777 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1907C>T (p.Ser636Leu) | single nucleotide variant | not provided [RCV001337516] | ChrX:85864685 [GRCh38] ChrX:85119690 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.391A>G (p.Thr131Ala) | single nucleotide variant | not provided [RCV001325009] | ChrX:85963976 [GRCh38] ChrX:85218981 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.670G>A (p.Gly224Ser) | single nucleotide variant | not provided [RCV001327112] | ChrX:85963697 [GRCh38] ChrX:85218702 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NC_000023.10:g.(?_85090756)_(85404112_?)dup | duplication | not provided [RCV001294971] | ChrX:85090756..85404112 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.502G>C (p.Glu168Gln) | single nucleotide variant | Choroideremia [RCV001277504] | ChrX:85963865 [GRCh38] ChrX:85218870 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.498G>A (p.Ala166=) | single nucleotide variant | Choroideremia [RCV001277505] | ChrX:85963869 [GRCh38] ChrX:85218874 [GRCh37] ChrX:Xq21.2 |
likely benign |
NM_000390.4(CHM):c.281C>G (p.Thr94Ser) | single nucleotide variant | not provided [RCV001305971] | ChrX:85978800 [GRCh38] ChrX:85233804 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1771-4C>T | single nucleotide variant | not provided [RCV001309840] | ChrX:85864825 [GRCh38] ChrX:85119830 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.182A>C (p.Glu61Ala) | single nucleotide variant | not provided [RCV001343158] | ChrX:85981744 [GRCh38] ChrX:85236748 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1595C>A (p.Thr532Asn) | single nucleotide variant | not provided [RCV001341772] | ChrX:85878979 [GRCh38] ChrX:85133984 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
NM_000390.4(CHM):c.1275G>C (p.Gln425His) | single nucleotide variant | not provided [RCV001337223] | ChrX:85901158 [GRCh38] ChrX:85156163 [GRCh37] ChrX:Xq21.2 |
uncertain significance |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:1940 | AgrOrtholog |
COSMIC | CHM | COSMIC |
Ensembl Genes | ENSG00000188419 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000350386 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000484306 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000357749 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000615443 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.50.50.60 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000188419 | GTEx |
HGNC ID | HGNC:1940 | ENTREZGENE |
Human Proteome Map | CHM | Human Proteome Map |
InterPro | FAD/NAD-bd_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GDP_dissociation_inhibitor | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rab_escort | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:1121 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 1121 | ENTREZGENE |
OMIM | 300390 | OMIM |
303100 | OMIM | |
PANTHER | PTHR11787 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | GDI | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA26471 | PharmGKB |
PIRSF | Rab_ger_ger_transf_A_euk | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PRINTS | RABESCORT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RABGDIREP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF51905 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A8K545 | ENTREZGENE, UniProtKB/TrEMBL |
B4DRL9 | ENTREZGENE, UniProtKB/TrEMBL | |
P24386 | ENTREZGENE | |
Q8N917_HUMAN | UniProtKB/TrEMBL | |
RAE1_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A1L4D2 | UniProtKB/Swiss-Prot |
O43732 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-02-05 | CHM | CHM Rab escort protein | CHM, Rab escort protein 1 | Symbol and/or name change | 5135510 | APPROVED | |
2016-02-29 | CHM | CHM, Rab escort protein 1 | choroideremia (Rab escort protein 1) | Symbol and/or name change | 5135510 | APPROVED | |
2011-08-16 | CHM | choroideremia (Rab escort protein 1) | CHM | choroideremia (Rab escort protein 1) | Symbol and/or name change | 5135510 | APPROVED |