RAB33A (RAB33A, member RAS oncogene family) - Rat Genome Database

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Gene: RAB33A (RAB33A, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB33A
Name: RAB33A, member RAS oncogene family
RGD ID: 1344985
HGNC Page HGNC
Description: Predicted to have GTP binding activity and GTPase activity. Involved in antigen processing and presentation. Predicted to localize to Golgi apparatus and endosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MGC1488; RabS10; ras-related protein Rab-33A; Small GTP-binding protein S10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX130,171,962 - 130,184,870 (+)EnsemblGRCh38hg38GRCh38
GRCh38X130,110,633 - 130,184,873 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X129,305,936 - 129,318,844 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X129,133,454 - 129,146,525 (+)NCBINCBI36hg18NCBI36
Build 34X129,031,307 - 129,044,378NCBI
CeleraX129,692,335 - 129,705,325 (+)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,701,562 - 118,715,130 (+)NCBIHuRef
CHM1_1X129,217,402 - 129,230,486 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7688322   PMID:9512502   PMID:9712825   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15772651   PMID:16136464   PMID:16189514   PMID:18448665   PMID:19060904   PMID:19717423  
PMID:21383079   PMID:21873635   PMID:22082872   PMID:22740627   PMID:23088713   PMID:25416956   PMID:27103069   PMID:30639242   PMID:32296183  


Genomics

Comparative Map Data
RAB33A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX130,171,962 - 130,184,870 (+)EnsemblGRCh38hg38GRCh38
GRCh38X130,110,633 - 130,184,873 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X129,305,936 - 129,318,844 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X129,133,454 - 129,146,525 (+)NCBINCBI36hg18NCBI36
Build 34X129,031,307 - 129,044,378NCBI
CeleraX129,692,335 - 129,705,325 (+)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,701,562 - 118,715,130 (+)NCBIHuRef
CHM1_1X129,217,402 - 129,230,486 (+)NCBICHM1_1
Rab33a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X47,602,540 - 47,619,117 (+)NCBIGRCm39mm39
GRCm39 EnsemblX47,608,162 - 47,619,109 (+)Ensembl
GRCm38X48,513,663 - 48,530,240 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX48,519,285 - 48,530,232 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X45,872,647 - 45,883,409 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X44,764,097 - 44,774,859 (+)NCBImm8
CeleraX36,021,110 - 36,031,749 (+)NCBICelera
Cytogenetic MapXA5NCBI
cM MapX25.68NCBI
Rab33a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X127,694,219 - 127,706,378 (+)NCBI
Rnor_6.0 EnsemblX135,348,436 - 135,360,203 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X135,348,799 - 135,360,204 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X135,420,269 - 135,431,674 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X134,913,903 - 134,925,308 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX126,643,393 - 126,654,798 (+)NCBICelera
Cytogenetic MapXq36NCBI
Rab33a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554734,875,202 - 4,887,177 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554734,875,230 - 4,891,898 (-)NCBIChiLan1.0ChiLan1.0
RAB33A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X129,591,231 - 129,605,214 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX129,591,222 - 129,605,214 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X119,298,428 - 119,311,625 (+)NCBIMhudiblu_PPA_v0panPan3
RAB33A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X101,311,752 - 101,322,825 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX101,312,611 - 101,322,689 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX87,489,539 - 87,500,593 (+)NCBI
ROS_Cfam_1.0X103,168,072 - 103,179,136 (+)NCBI
UMICH_Zoey_3.1X100,585,386 - 100,596,426 (+)NCBI
UNSW_CanFamBas_1.0X102,431,428 - 102,442,487 (+)NCBI
UU_Cfam_GSD_1.0X102,209,808 - 102,220,845 (+)NCBI
Rab33a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X99,550,127 - 99,561,728 (+)NCBI
SpeTri2.0NW_0049364791,425,765 - 1,437,338 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB33A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX106,712,272 - 106,723,413 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X106,708,402 - 106,723,803 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X122,480,414 - 122,491,875 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RAB33A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X105,421,709 - 105,437,206 (+)NCBI
ChlSab1.1 EnsemblX105,424,290 - 105,437,169 (+)Ensembl
Rab33a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247979,389,651 - 9,401,260 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:121
Count of miRNA genes:118
Interacting mature miRNAs:118
Transcripts:ENST00000257017
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 adipose tissue appendage entire extraembryonic component
High
Medium 12 460 15 1 779 1 168 21 1951 16 37 59 68 75
Low 1747 2296 1321 299 1096 222 2890 938 1607 266 1165 1350 85 1097 1674 1
Below cutoff 645 221 377 314 66 234 1172 1107 146 128 233 186 84 39 924 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000257017   ⟹   ENSP00000257017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,171,962 - 130,184,870 (+)Ensembl
RefSeq Acc Id: NM_004794   ⟹   NP_004785
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,171,962 - 130,184,870 (+)NCBI
GRCh37X129,305,773 - 129,318,844 (+)RGD
Build 36X129,133,454 - 129,146,525 (+)NCBI Archive
CeleraX129,692,335 - 129,705,325 (+)RGD
HuRefX118,701,562 - 118,715,130 (+)RGD
CHM1_1X129,217,402 - 129,230,486 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029963   ⟹   XP_016885452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,110,633 - 130,184,873 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004785   ⟸   NM_004794
- UniProtKB: Q14088 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885452   ⟸   XM_017029963
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000257017   ⟸   ENST00000257017

Promoters
RGD ID:6809161
Promoter ID:HG_KWN:68031
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000058246,   UC010NRE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X129,132,711 - 129,133,932 (+)MPROMDB
RGD ID:13628084
Promoter ID:EPDNEW_H29317
Type:initiation region
Name:RAB33A_3
Description:RAB33A, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29321  EPDNEW_H29322  EPDNEW_H29323  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,110,663 - 130,110,723EPDNEW
RGD ID:13628092
Promoter ID:EPDNEW_H29321
Type:initiation region
Name:RAB33A_4
Description:RAB33A, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29317  EPDNEW_H29322  EPDNEW_H29323  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,165,937 - 130,165,997EPDNEW
RGD ID:13628094
Promoter ID:EPDNEW_H29322
Type:initiation region
Name:RAB33A_2
Description:RAB33A, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29317  EPDNEW_H29321  EPDNEW_H29323  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,171,737 - 130,171,797EPDNEW
RGD ID:13628096
Promoter ID:EPDNEW_H29323
Type:initiation region
Name:RAB33A_1
Description:RAB33A, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29317  EPDNEW_H29321  EPDNEW_H29322  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,171,970 - 130,172,030EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004208.4(AIFM1):c.597A>C (p.Lys199Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000552596] ChrX:130147501 [GRCh38]
ChrX:129281476 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.710A>T (p.Asp237Val) single nucleotide variant not provided [RCV000521704] ChrX:130140604 [GRCh38]
ChrX:129274579 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1574G>A (p.Gly525Glu) single nucleotide variant not provided [RCV000521771] ChrX:130130166 [GRCh38]
ChrX:129264141 [GRCh37]
ChrX:Xq26.1
uncertain significance
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 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:10679-156022206)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)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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
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 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
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 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 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 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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain See cases [RCV000052446] ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2
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-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_004208.4(AIFM1):c.1478A>T (p.Glu493Val) single nucleotide variant Cowchock syndrome [RCV000032801] ChrX:130131770 [GRCh38]
ChrX:129265745 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.603_605del (p.Arg201del) deletion Combined oxidative phosphorylation deficiency 6 [RCV000012302] ChrX:130147493..130147495 [GRCh38]
ChrX:129281468..129281470 [GRCh37]
ChrX:Xq26.1
pathogenic
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)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: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: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 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: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 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 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
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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
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 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
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: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: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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
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 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: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 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 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
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 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 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xp22.2-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 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
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 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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
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-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 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 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
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 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq25-26.1(chrX:129192846-130323929)x2 copy number gain See cases [RCV000143055] ChrX:129192846..130323929 [GRCh38]
ChrX:128326823..129457903 [GRCh37]
ChrX:128154504..129285584 [NCBI36]
ChrX:Xq25-26.1
uncertain significance
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
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 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 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: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
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
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
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
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000538656]|Cowchock syndrome [RCV000235074]|not provided [RCV000837953] ChrX:130133373 [GRCh38]
ChrX:129267348 [GRCh37]
ChrX:Xq26.1
likely pathogenic|likely benign|uncertain significance
NM_004208.4(AIFM1):c.497C>T (p.Pro166Leu) single nucleotide variant Malignant tumor of prostate [RCV000149347] ChrX:130147601 [GRCh38]
ChrX:129281576 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.-123G>C single nucleotide variant Deafness, X-linked 5 [RCV000149857] ChrX:130165779 [GRCh38]
ChrX:129299753 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val) single nucleotide variant Deafness, X-linked 5 [RCV000149858] ChrX:130147792 [GRCh38]
ChrX:129281767 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro) indel Deafness, X-linked 5 [RCV000149859] ChrX:130147525..130147526 [GRCh38]
ChrX:129281500..129281501 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001347906]|Deafness, X-linked 5 [RCV000149860] ChrX:130139808 [GRCh38]
ChrX:129273783 [GRCh37]
ChrX:Xq26.1
likely pathogenic|uncertain significance
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr) single nucleotide variant Deafness, X-linked 5 [RCV000149861] ChrX:130138700 [GRCh38]
ChrX:129272675 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000868580]|Deafness, X-linked 5 [RCV000149862] ChrX:130137123 [GRCh38]
ChrX:129271098 [GRCh37]
ChrX:Xq26.1
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser) single nucleotide variant Deafness, X-linked 5 [RCV000149863] ChrX:130136710 [GRCh38]
ChrX:129270685 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) single nucleotide variant Deafness, X-linked 5 [RCV000149864] ChrX:130136086 [GRCh38]
ChrX:129270061 [GRCh37]
ChrX:Xq26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) single nucleotide variant Deafness, X-linked 5 [RCV000149865] ChrX:130136085 [GRCh38]
ChrX:129270060 [GRCh37]
ChrX:Xq26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu) single nucleotide variant Deafness, X-linked 5 [RCV000149866] ChrX:130133337 [GRCh38]
ChrX:129267312 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met) single nucleotide variant Deafness, X-linked 5 [RCV000149867] ChrX:130131756 [GRCh38]
ChrX:129265731 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His) single nucleotide variant Deafness, X-linked 5 [RCV000149868] ChrX:130130062 [GRCh38]
ChrX:129264037 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val) single nucleotide variant Deafness, X-linked 5 [RCV000149869] ChrX:130133442 [GRCh38]
ChrX:129267417 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg) single nucleotide variant Deafness, X-linked 5 [RCV000149870] ChrX:130136729 [GRCh38]
ChrX:129270704 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1113C>T (p.Ser371=) single nucleotide variant Deafness, X-linked 5 [RCV000149871]|not provided [RCV000904868] ChrX:130136694 [GRCh38]
ChrX:129270669 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) single nucleotide variant Deafness, X-linked 5 [RCV000202359] ChrX:130140536 [GRCh38]
ChrX:129274511 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) single nucleotide variant Deafness, X-linked 5 [RCV000202363] ChrX:130133409 [GRCh38]
ChrX:129267384 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000464101]|Charcot-Marie-Tooth disease [RCV001173142]|Combined oxidative phosphorylation deficiency 6 [RCV000374413]|not provided [RCV000676787]|not specified [RCV000123565] ChrX:130138642 [GRCh38]
ChrX:129272617 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000468210]|Charcot-Marie-Tooth disease [RCV001173141]|Combined oxidative phosphorylation deficiency 6 [RCV000321843]|not provided [RCV000676786]|not specified [RCV000123567] ChrX:130137157 [GRCh38]
ChrX:129271132 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000528490]|Charcot-Marie-Tooth disease [RCV001173133]|Combined oxidative phosphorylation deficiency 6 [RCV000361279]|none provided [RCV001285392]|not specified [RCV000123568] ChrX:130133432 [GRCh38]
ChrX:129267407 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000553366]|Charcot-Marie-Tooth disease [RCV001173140]|Combined oxidative phosphorylation deficiency 6 [RCV001166264]|not specified [RCV000123569] ChrX:130133345 [GRCh38]
ChrX:129267320 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1833T>C (p.His611=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001086869]|Charcot-Marie-Tooth disease [RCV001173139]|Combined oxidative phosphorylation deficiency 6 [RCV001169185]|not provided [RCV000676784]|not specified [RCV000123570] ChrX:130129566 [GRCh38]
ChrX:129263541 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000475567]|Combined oxidative phosphorylation deficiency 6 [RCV000333876]|not specified [RCV000123571] ChrX:130165554 [GRCh38]
ChrX:129299528 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.968-358C>T single nucleotide variant not specified [RCV000123566] ChrX:130137543 [GRCh38]
ChrX:129271518 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.134C>G (p.Pro45Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654858]|not specified [RCV000195546] ChrX:130156576 [GRCh38]
ChrX:129290550 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000554197]|Charcot-Marie-Tooth disease [RCV001173134]|Combined oxidative phosphorylation deficiency 6 [RCV000264409]|not specified [RCV000197100] ChrX:130137106 [GRCh38]
ChrX:129271081 [GRCh37]
ChrX:Xq26.1
benign|likely benign|uncertain significance
NM_004208.4(AIFM1):c.1642C>T (p.Pro548Ser) single nucleotide variant not specified [RCV000198976] ChrX:130130098 [GRCh38]
ChrX:129264073 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.287A>G (p.Asn96Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000233284] ChrX:130149531 [GRCh38]
ChrX:129283506 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001071849]|Combined oxidative phosphorylation deficiency 6 [RCV000768430]|not provided [RCV000196053] ChrX:130147774 [GRCh38]
ChrX:129281749 [GRCh37]
ChrX:Xq26.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly) single nucleotide variant not provided [RCV000197930] ChrX:130136166 [GRCh38]
ChrX:129270141 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.3(AIFM1):c.1820T>A (p.Leu607Gln) single nucleotide variant not provided [RCV000199085] ChrX:130129579 [GRCh38]
ChrX:129263554 [GRCh37]
ChrX:Xq26.1
likely 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: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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
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
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.*49C>T single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000270368] ChrX:130129508 [GRCh38]
ChrX:129263483 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.366A>G (p.Glu122=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654863]|Combined oxidative phosphorylation deficiency 6 [RCV000316193] ChrX:130147860 [GRCh38]
ChrX:129281835 [GRCh37]
ChrX:Xq26.1
benign|likely benign|uncertain significance
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173144]|Combined oxidative phosphorylation deficiency 6 [RCV000373191]|Deafness, X-linked 5 [RCV000990945]|not provided [RCV000676788] ChrX:130149545 [GRCh38]
ChrX:129283520 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.-185G>A single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000401191] ChrX:130165841 [GRCh38]
ChrX:129299815 [GRCh37]
ChrX:Xq26.1
likely benign|uncertain significance
NM_004208.4(AIFM1):c.-140C>G single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000294173] ChrX:130165796 [GRCh38]
ChrX:129299770 [GRCh37]
ChrX:Xq26.1
likely benign|uncertain significance
NM_004208.4(AIFM1):c.262A>G (p.Met88Val) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000295299] ChrX:130149556 [GRCh38]
ChrX:129283531 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001085808]|Charcot-Marie-Tooth disease [RCV001173138]|Combined oxidative phosphorylation deficiency 6 [RCV000386138]|not provided [RCV000762669] ChrX:130165585 [GRCh38]
ChrX:129299559 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.606-15C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173143]|Combined oxidative phosphorylation deficiency 6 [RCV000263434]|not specified [RCV000435122] ChrX:130145584 [GRCh38]
ChrX:129279559 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.-165G>A single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000346794] ChrX:130165821 [GRCh38]
ChrX:129299795 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.1647A>G (p.Ala549=) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000304209] ChrX:130130093 [GRCh38]
ChrX:129264068 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1436A>G (p.Gln479Arg) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000408758] ChrX:130133325 [GRCh38]
ChrX:129267300 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.578T>C (p.Phe193Ser) single nucleotide variant not provided [RCV000489087] ChrX:130147520 [GRCh38]
ChrX:129281495 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172831]|not provided [RCV000490175] ChrX:130147496 [GRCh38]
ChrX:129281471 [GRCh37]
ChrX:Xq26.1
likely pathogenic|uncertain significance
NM_004208.4(AIFM1):c.1479A>G (p.Glu493=) single nucleotide variant not specified [RCV000604772] ChrX:130131769 [GRCh38]
ChrX:129265744 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001040748]|not provided [RCV000730174] ChrX:130138608 [GRCh38]
ChrX:129272583 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) single nucleotide variant Cowchock syndrome [RCV000789722]|Sensorineural hearing loss [RCV000415225]|not provided [RCV001311404] ChrX:130137134 [GRCh38]
ChrX:129271109 [GRCh37]
ChrX:Xq26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004208.4(AIFM1):c.801G>A (p.Leu267=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000530870] ChrX:130139852 [GRCh38]
ChrX:129273827 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1481C>T (p.Ala494Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000531658] ChrX:130131767 [GRCh38]
ChrX:129265742 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.720C>T (p.Asp240=) single nucleotide variant AIFM1-related hypomyelination with spondylometaphyseal dysplasia [RCV000735220]|Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV000856717] ChrX:130140594 [GRCh38]
ChrX:129274569 [GRCh37]
ChrX:Xq26.1
pathogenic|uncertain significance
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val) single nucleotide variant Leukodystrophy [RCV000414973]|Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV001198204] ChrX:130130094 [GRCh38]
ChrX:129264069 [GRCh37]
ChrX:Xq26.1
likely pathogenic|uncertain significance
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000812665]|Charcot-Marie-Tooth disease [RCV001172830]|not specified [RCV000413652] ChrX:130130143 [GRCh38]
ChrX:129264118 [GRCh37]
ChrX:Xq26.1
uncertain significance
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:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [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 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 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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-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 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
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
NM_004208.4(AIFM1):c.474+13T>G single nucleotide variant not specified [RCV000424517] ChrX:130147739 [GRCh38]
ChrX:129281714 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1644G>A (p.Pro548=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654865]|Combined oxidative phosphorylation deficiency 6 [RCV001166263]|not specified [RCV000418775] ChrX:130130096 [GRCh38]
ChrX:129264071 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.1075+20A>G single nucleotide variant not specified [RCV000428698] ChrX:130137058 [GRCh38]
ChrX:129271033 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.696+16G>A single nucleotide variant not specified [RCV000421856] ChrX:130145463 [GRCh38]
ChrX:129279438 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_004208.4(AIFM1):c.349+8T>G single nucleotide variant not specified [RCV000440011] ChrX:130149461 [GRCh38]
ChrX:129283436 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1120G>A (p.Val374Ile) single nucleotide variant not provided [RCV000440195] ChrX:130136687 [GRCh38]
ChrX:129270662 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2
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
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely 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
NM_004208.4(AIFM1):c.1501A>T (p.Ser501Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000459212] ChrX:130131747 [GRCh38]
ChrX:129265722 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000467856]|none provided [RCV001287382] ChrX:130130097 [GRCh38]
ChrX:129264072 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.469G>T (p.Ala157Ser) single nucleotide variant not provided [RCV000497847] ChrX:130147757 [GRCh38]
ChrX:129281732 [GRCh37]
ChrX:Xq26.1
likely 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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr) single nucleotide variant not provided [RCV000493175] ChrX:130136146 [GRCh38]
ChrX:129270121 [GRCh37]
ChrX:Xq26.1
likely 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
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_004208.4(AIFM1):c.1090A>G (p.Met364Val) single nucleotide variant not provided [RCV000519178] ChrX:130136717 [GRCh38]
ChrX:129270692 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_004208.4(AIFM1):c.782-4C>A single nucleotide variant not specified [RCV000606126] ChrX:130139875 [GRCh38]
ChrX:129273850 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.249+1226G>C single nucleotide variant Inborn genetic diseases [RCV000623671] ChrX:130155235 [GRCh38]
ChrX:129289210 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000699009]|Cowchock syndrome [RCV000766070]|Inborn genetic diseases [RCV000623865]|not provided [RCV000514093] ChrX:130156540 [GRCh38]
ChrX:129290514 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1036G>A (p.Glu346Lys) single nucleotide variant not specified [RCV000609681] ChrX:130137117 [GRCh38]
ChrX:129271092 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1794T>C (p.His598=) single nucleotide variant not specified [RCV000610956] ChrX:130129605 [GRCh38]
ChrX:129263580 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.54C>G (p.Pro18=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000861933]|not specified [RCV000613711] ChrX:130165603 [GRCh38]
ChrX:129299577 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.1609G>A (p.Glu537Lys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654857] ChrX:130130131 [GRCh38]
ChrX:129264106 [GRCh37]
ChrX:Xq26.1
likely benign|uncertain significance
NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654859] ChrX:130136693 [GRCh38]
ChrX:129270668 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654860]|Combined oxidative phosphorylation deficiency 6 [RCV001166266] ChrX:130136123 [GRCh38]
ChrX:129270098 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.339C>T (p.Ala113=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654861] ChrX:130149479 [GRCh38]
ChrX:129283454 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1543G>A (p.Asp515Asn) single nucleotide variant not specified [RCV000609100] ChrX:130131705 [GRCh38]
ChrX:129265680 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
NM_004208.4(AIFM1):c.948C>A (p.Ala316=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654862]|not specified [RCV000607639] ChrX:130138612 [GRCh38]
ChrX:129272587 [GRCh37]
ChrX:Xq26.1
benign|likely benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
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_004208.4(AIFM1):c.556A>G (p.Asn186Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000813177]|not provided [RCV000659180] ChrX:130147542 [GRCh38]
ChrX:129281517 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1081G>A (p.Val361Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000698851] ChrX:130136726 [GRCh38]
ChrX:129270701 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1719C>G (p.Val573=) single nucleotide variant not provided [RCV000676785] ChrX:130130021 [GRCh38]
ChrX:129263996 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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_004208.4(AIFM1):c.646G>A (p.Asp216Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000806645] ChrX:130145529 [GRCh38]
ChrX:129279504 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
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 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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_004208.4(AIFM1):c.1725G>A (p.Gly575=) single nucleotide variant not provided [RCV000938943] ChrX:130130015 [GRCh38]
ChrX:129263990 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr) single nucleotide variant Deafness, X-linked 5 [RCV000990944] ChrX:130136109 [GRCh38]
ChrX:129270084 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.342G>A (p.Ala114=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000866471] ChrX:130149476 [GRCh38]
ChrX:129283451 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser) single nucleotide variant Cowchock syndrome [RCV000907854] ChrX:130139869 [GRCh38]
ChrX:129273844 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.422C>T (p.Thr141Ile) single nucleotide variant Cowchock syndrome [RCV000907858] ChrX:130147804 [GRCh38]
ChrX:129281779 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.724A>G (p.Met242Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001037431] ChrX:130140590 [GRCh38]
ChrX:129274565 [GRCh37]
ChrX:Xq26.1
uncertain significance
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_004208.4(AIFM1):c.710A>G (p.Asp237Gly) single nucleotide variant Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV000856716] ChrX:130140604 [GRCh38]
ChrX:129274579 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.74T>C (p.Val25Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001064872] ChrX:130165583 [GRCh38]
ChrX:129299557 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_004208.4(AIFM1):c.1758A>C (p.Pro586=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000919386] ChrX:130129982 [GRCh38]
ChrX:129263957 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.84G>A (p.Pro28=) single nucleotide variant not provided [RCV000873012] ChrX:130165573 [GRCh38]
ChrX:129299547 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.250-9G>C single nucleotide variant not provided [RCV000870057] ChrX:130149577 [GRCh38]
ChrX:129283552 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys) inversion Charcot-Marie-Tooth Neuropathy X [RCV000862194]|Charcot-Marie-Tooth disease [RCV001173136] ChrX:130149544..130149545 [GRCh38]
ChrX:129283519..129283520 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.250-5C>T single nucleotide variant not provided [RCV000873644] ChrX:130149573 [GRCh38]
ChrX:129283548 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.705G>C (p.Gln235His) single nucleotide variant Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV000856718] ChrX:130140609 [GRCh38]
ChrX:129274584 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.697-44T>G single nucleotide variant Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV000856719] ChrX:130140661 [GRCh38]
ChrX:129274636 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.1710C>A (p.Asp570Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000797426] ChrX:130130030 [GRCh38]
ChrX:129264005 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.782-124C>T single nucleotide variant not provided [RCV000837959] ChrX:130139995 [GRCh38]
ChrX:129273970 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.250-118A>G single nucleotide variant not provided [RCV000836117] ChrX:130149686 [GRCh38]
ChrX:129283661 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.605+262T>G single nucleotide variant not provided [RCV000832345] ChrX:130147231 [GRCh38]
ChrX:129281206 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.350C>T (p.Ala117Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000801623] ChrX:130147876 [GRCh38]
ChrX:129281851 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.967+127T>C single nucleotide variant not provided [RCV000834873] ChrX:130138466 [GRCh38]
ChrX:129272441 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1094C>G (p.Pro365Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000814995] ChrX:130136713 [GRCh38]
ChrX:129270688 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_004208.4(AIFM1):c.238G>A (p.Ala80Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000797319] ChrX:130156472 [GRCh38]
ChrX:129290446 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.107-177G>A single nucleotide variant not provided [RCV000839760] ChrX:130156780 [GRCh38]
ChrX:129290754 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1771-9C>T single nucleotide variant not provided [RCV000842662] ChrX:130129637 [GRCh38]
ChrX:129263612 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.250-243T>C single nucleotide variant not provided [RCV000837538] ChrX:130149811 [GRCh38]
ChrX:129283786 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1305+240C>G single nucleotide variant not provided [RCV000837539] ChrX:130135805 [GRCh38]
ChrX:129269780 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.697-4C>T single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001166793] ChrX:130140621 [GRCh38]
ChrX:129274596 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000795040] ChrX:130137147 [GRCh38]
ChrX:129271122 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.-90G>C single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001168506] ChrX:130165746 [GRCh38]
ChrX:129299720 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.858+13T>G single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001166792] ChrX:130139782 [GRCh38]
ChrX:129273757 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.968-14T>A single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001166267] ChrX:130137199 [GRCh38]
ChrX:129271174 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.341C>T (p.Ala114Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000792594] ChrX:130149477 [GRCh38]
ChrX:129283452 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1075+4G>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000793401] ChrX:130137074 [GRCh38]
ChrX:129271049 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000796324] ChrX:130130047 [GRCh38]
ChrX:129264022 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.630C>A (p.Phe210Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000802263] ChrX:130145545 [GRCh38]
ChrX:129279520 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000907842] ChrX:130138637 [GRCh38]
ChrX:129272612 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.1573+256T>C single nucleotide variant not provided [RCV000844021] ChrX:130131419 [GRCh38]
ChrX:129265394 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000811082] ChrX:130138667 [GRCh38]
ChrX:129272642 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.967+48G>A single nucleotide variant not provided [RCV000834845] ChrX:130138545 [GRCh38]
ChrX:129272520 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1594A>G (p.Ser532Gly) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000800712] ChrX:130130146 [GRCh38]
ChrX:129264121 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000817329]|not specified [RCV001199842] ChrX:130156569 [GRCh38]
ChrX:129290543 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.954T>C (p.Ala318=) single nucleotide variant not provided [RCV000876374] ChrX:130138606 [GRCh38]
ChrX:129272581 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
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
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_004208.4(AIFM1):c.1631C>T (p.Pro544Leu) single nucleotide variant not specified [RCV001199881] ChrX:130130109 [GRCh38]
ChrX:129264084 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1045A>G (p.Ser349Gly) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001231423] ChrX:130137108 [GRCh38]
ChrX:129271083 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.187A>G (p.Lys63Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001221229] ChrX:130156523 [GRCh38]
ChrX:129290497 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.956T>A (p.Leu319His) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001243224] ChrX:130138604 [GRCh38]
ChrX:129272579 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.249+1258T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173137] ChrX:130155203 [GRCh38]
ChrX:129289178 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001062623]|Combined oxidative phosphorylation deficiency 6 [RCV001166795] ChrX:130149478 [GRCh38]
ChrX:129283453 [GRCh37]
ChrX:Xq26.1
likely benign|uncertain significance
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001166794] ChrX:130147501 [GRCh38]
ChrX:129281476 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.636C>G (p.Val212=) single nucleotide variant not provided [RCV000910614] ChrX:130145539 [GRCh38]
ChrX:129279514 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1013G>A (p.Gly338Glu) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000907852] ChrX:130137140 [GRCh38]
ChrX:129271115 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.727G>T (p.Val243Leu) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000907860] ChrX:130140587 [GRCh38]
ChrX:129274562 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.1448+8T>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000869273] ChrX:130133305 [GRCh38]
ChrX:129267280 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.274G>A (p.Glu92Lys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000972569] ChrX:130149544 [GRCh38]
ChrX:129283519 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1464C>T (p.Pro488=) single nucleotide variant not provided [RCV000953896] ChrX:130131784 [GRCh38]
ChrX:129265759 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.511A>G (p.Met171Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001066988] ChrX:130147587 [GRCh38]
ChrX:129281562 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.370C>A (p.Pro124Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001218816] ChrX:130147856 [GRCh38]
ChrX:129281831 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1669G>T (p.Gly557Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001243677] ChrX:130130071 [GRCh38]
ChrX:129264046 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1483A>G (p.Ile495Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001243674] ChrX:130131765 [GRCh38]
ChrX:129265740 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1633C>T (p.Pro545Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001066132] ChrX:130130107 [GRCh38]
ChrX:129264082 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1707G>A (p.Arg569=) single nucleotide variant not provided [RCV000956346] ChrX:130130033 [GRCh38]
ChrX:129264008 [GRCh37]
ChrX:Xq26.1
likely benign
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_004208.4(AIFM1):c.*20C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173130] ChrX:130129537 [GRCh38]
ChrX:129263512 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1782C>T (p.Asp594=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173131] ChrX:130129617 [GRCh38]
ChrX:129263592 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.911C>T (p.Thr304Met) single nucleotide variant Intellectual disability [RCV001004056] ChrX:130138649 [GRCh38]
ChrX:129272624 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001239715]|Charcot-Marie-Tooth disease [RCV001172829] ChrX:130130113 [GRCh38]
ChrX:129264088 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1574-20G>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173132] ChrX:130130186 [GRCh38]
ChrX:129264161 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173129] ChrX:130147585 [GRCh38]
ChrX:129281560 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1105G>T (p.Val369Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001070075] ChrX:130136702 [GRCh38]
ChrX:129270677 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.248A>G (p.Tyr83Cys) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001168505] ChrX:130156462 [GRCh38]
ChrX:129290436 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1660C>T (p.Pro554Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001234213] ChrX:130130080 [GRCh38]
ChrX:129264055 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.143_145del (p.Leu48del) deletion Charcot-Marie-Tooth Neuropathy X [RCV001207920] ChrX:130156565..130156567 [GRCh38]
ChrX:129290539..129290541 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1208A>G (p.Asn403Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001232414] ChrX:130136142 [GRCh38]
ChrX:129270117 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1781A>C (p.Asp594Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001219360] ChrX:130129618 [GRCh38]
ChrX:129263593 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1232G>A (p.Gly411Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001207094] ChrX:130136118 [GRCh38]
ChrX:129270093 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1058T>C (p.Met353Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001046566] ChrX:130137095 [GRCh38]
ChrX:129271070 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001214647]|Combined oxidative phosphorylation deficiency 6 [RCV001166265] ChrX:130133406 [GRCh38]
ChrX:129267381 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1465G>A (p.Asp489Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001208296] ChrX:130131783 [GRCh38]
ChrX:129265758 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.971G>A (p.Arg324Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001035377] ChrX:130137182 [GRCh38]
ChrX:129271157 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.939C>T (p.Ser313=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173135] ChrX:130138621 [GRCh38]
ChrX:129272596 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1586G>A (p.Arg529Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001037553] ChrX:130130154 [GRCh38]
ChrX:129264129 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_004208.4(AIFM1):c.606C>T (p.Ser202=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001204334] ChrX:130145569 [GRCh38]
ChrX:129279544 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.253T>C (p.Tyr85His) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001040714] ChrX:130149565 [GRCh38]
ChrX:129283540 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1770+12T>C single nucleotide variant Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV001199119] ChrX:130129958 [GRCh38]
ChrX:129263933 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001262516] ChrX:130147592 [GRCh38]
ChrX:129281567 [GRCh37]
ChrX:Xq26.1
likely pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004208.4(AIFM1):c.1805A>G (p.Asn602Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001339309] ChrX:130129594 [GRCh38]
ChrX:129263569 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.29G>A (p.Gly10Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001341570] ChrX:130165628 [GRCh38]
ChrX:129299602 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.147G>C (p.Gln49His) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001329822] ChrX:130156563 [GRCh38]
ChrX:129290537 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1151A>G (p.Lys384Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001298572] ChrX:130136656 [GRCh38]
ChrX:129270631 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1751G>A (p.Arg584Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001318544] ChrX:130129989 [GRCh38]
ChrX:129263964 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.383C>T (p.Ala128Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001309611] ChrX:130147843 [GRCh38]
ChrX:129281818 [GRCh37]
ChrX:Xq26.1
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_004208.4(AIFM1):c.1579G>A (p.Gly527Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001343534] ChrX:130130161 [GRCh38]
ChrX:129264136 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.232G>A (p.Val78Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001324863] ChrX:130156478 [GRCh38]
ChrX:129290452 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.980G>T (p.Gly327Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001299321] ChrX:130137173 [GRCh38]
ChrX:129271148 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.284A>G (p.Tyr95Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001297632] ChrX:130149534 [GRCh38]
ChrX:129283509 [GRCh37]
ChrX:Xq26.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9773 AgrOrtholog
COSMIC RAB33A COSMIC
Ensembl Genes ENSG00000134594 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000257017 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000257017 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000134594 GTEx
HGNC ID HGNC:9773 ENTREZGENE
Human Proteome Map RAB33A Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot
  Rab33A/B UniProtKB/Swiss-Prot
  Small_GTP-bd_dom UniProtKB/Swiss-Prot
  Small_GTPase UniProtKB/Swiss-Prot
KEGG Report hsa:9363 UniProtKB/Swiss-Prot
NCBI Gene 9363 ENTREZGENE
OMIM 300333 OMIM
Pfam Ras UniProtKB/Swiss-Prot
PharmGKB PA34124 PharmGKB
PROSITE RAB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
TIGRFAMs small_GTP UniProtKB/Swiss-Prot
UniProt Q14088 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5JUZ6 UniProtKB/Swiss-Prot
  Q92465 UniProtKB/Swiss-Prot