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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | non-syndromic X-linked intellectual disability 107 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | non-syndromic X-linked intellectual disability 107 | | IAGP | | 7240710 | | OMIM | | |
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PMID:12477932 | PMID:14702039 | PMID:16344560 | PMID:17207965 | PMID:17353931 | PMID:19377476 | PMID:21832049 | PMID:22365833 | PMID:22412018 | PMID:22939629 | PMID:25416956 | PMID:25544563 |
PMID:26186194 | PMID:26752685 | PMID:27437069 | PMID:27634302 | PMID:28514442 | PMID:28775156 | PMID:29229926 | PMID:29374277 | PMID:29395067 | PMID:29568061 | PMID:29987050 | PMID:30415952 |
PMID:30585729 | PMID:30804502 | PMID:30890647 | PMID:31091453 | PMID:31198491 | PMID:31248990 | PMID:31732153 | PMID:32296183 | PMID:32416067 | PMID:32690950 | PMID:32694731 |
STEEP1 (Homo sapiens - human) |
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C330007P06Rik (Mus musculus - house mouse) |
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Steep1 (Rattus norvegicus - Norway rat) |
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Steep1 (Chinchilla lanigera - long-tailed chinchilla) |
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STEEP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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STEEP1 (Canis lupus familiaris - dog) |
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Steep1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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STEEP1 (Sus scrofa - pig) |
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STEEP1 (Chlorocebus sabaeus - African green monkey) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Steep1 (Heterocephalus glaber - naked mole-rat) |
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RH65346 |
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MARC_21759-21760:1023907404:5 |
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D10S16 | No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D8S2279 |
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D10S16 |
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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 | 1858 | 1416 | 1225 | 240 | 1149 | 125 | 3630 | 926 | 2495 | 334 | 1295 | 1513 | 131 | 1 | 1134 | 2086 | 5 | 2 |
Low | 581 | 1570 | 501 | 384 | 799 | 340 | 727 | 1269 | 1239 | 84 | 165 | 100 | 44 | 70 | 702 | 1 | ||
Below cutoff | 5 | 3 | 2 | 1 |
RefSeq Transcripts | NG_016378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001170569 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001170570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_022101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC004000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC004913 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC005190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK096297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK298877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC023506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ223940 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA590933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA921725 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB033119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000320339 ⟹ ENSP00000320345 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000469448 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000536133 ⟹ ENSP00000441786 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000644802 ⟹ ENSP00000494123 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001170569 ⟹ NP_001164040 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001170570 ⟹ NP_001164041 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_022101 ⟹ NP_071384 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001164040 | (Get FASTA) | NCBI Sequence Viewer |
NP_001164041 | (Get FASTA) | NCBI Sequence Viewer | |
NP_071384 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB96348 | (Get FASTA) | NCBI Sequence Viewer |
BAG53251 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60994 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89864 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89865 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89866 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89867 | (Get FASTA) | NCBI Sequence Viewer | |
Q9H5V9 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_071384 ⟸ NM_022101 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9H5V9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001164041 ⟸ NM_001170570 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q9H5V9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001164040 ⟸ NM_001170569 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9H5V9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000320345 ⟸ ENST00000320339 |
RefSeq Acc Id: | ENSP00000441786 ⟸ ENST00000536133 |
RefSeq Acc Id: | ENSP00000494123 ⟸ ENST00000644802 |
RGD ID: | 6808603 | ||||||||
Promoter ID: | HG_KWN:67884 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000320339, ENST00000371594, NM_001170570, NM_022101, OTTHUMT00000058040, OTTHUMT00000058041 | ||||||||
Position: |
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RGD ID: | 6850822 | ||||||||
Promoter ID: | EP73206 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_FLJ22965 | ||||||||
Description: | Hypothetical protein FLJ22965. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | ||||||||
Position: |
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RGD ID: | 13627948 | ||||||||
Promoter ID: | EPDNEW_H29250 | ||||||||
Type: | initiation region | ||||||||
Name: | FLJ22965_1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
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 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: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)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:10679-156013167)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 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 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 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 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 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 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-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_022101.4(STEEP1):c.158G>T (p.Arg53Leu) | single nucleotide variant | Intellectual disability, x-linked 107 [RCV001331226] | ChrX:119560352 [GRCh38] ChrX:118694315 [GRCh37] ChrX:Xq24 |
uncertain significance |
NM_022101.4(STEEP1):c.44G>T (p.Arg15Leu) | single nucleotide variant | Intellectual disability, x-linked 107 [RCV001331227] | ChrX:119565312 [GRCh38] ChrX:118699275 [GRCh37] ChrX:Xq24 |
uncertain significance |
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: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 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 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 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: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 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 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 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 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 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 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 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 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 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 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 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)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 Xp22.33-q28(chrX:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] 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: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 |
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 | copy number loss | Premature ovarian failure [RCV000225336] | ChrX:99931059..120328627 [GRCh37] ChrX:Xq22.1-24 |
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 |
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: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:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [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 Xq24(chrX:118673728-118717682)x0 | copy number loss | See cases [RCV000240349] | ChrX:118673728..118717682 [GRCh37] ChrX:Xq24 |
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 |
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_022101.4(STEEP1):c.159_160insTA (p.Asp54Ter) | insertion | Intellectual disability, x-linked 107 [RCV000626311] | ChrX:119560350..119560351 [GRCh38] ChrX:118694313..118694314 [GRCh37] ChrX:Xq24 |
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: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:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 | copy number gain | See cases [RCV000446318] | ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1 |
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: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 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [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: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 |
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 | copy number loss | See cases [RCV000445891] | ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
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 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:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
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 |
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 |
GRCh37/hg19 Xq24(chrX:118601218-118855714)x0 | copy number loss | See cases [RCV000510978] | ChrX:118601218..118855714 [GRCh37] ChrX:Xq24 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 | copy number loss | See cases [RCV000510820] | ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
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 |
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 |
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 Xq22.3-28(chrX:104098124-155233731)x1 | copy number loss | not provided [RCV000846958] | ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xq24(chrX:118053103-119334499)x2 | copy number gain | not provided [RCV000753733] | ChrX:118053103..119334499 [GRCh37] ChrX:Xq24 |
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 |
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 | copy number loss | not provided [RCV001007318] | ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
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 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 | copy number loss | not provided [RCV000847838] | ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
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 |
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 | copy number gain | not provided [RCV001007336] | ChrX:117119895..129850963 [GRCh37] ChrX:Xq24-26.1 |
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 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_022101.4(STEEP1):c.492AGAGGA[1] (p.Glu167_Glu168del) | microsatellite | Intellectual disability, x-linked 107 [RCV001254153] | ChrX:119542515..119542520 [GRCh38] ChrX:118676478..118676483 [GRCh37] ChrX:Xq24 |
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 |
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 | copy number loss | not provided [RCV001259012] | ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xq24(chrX:118679335-118744405)x0 | copy number loss | See cases [RCV001264395] | ChrX:118679335..118744405 [GRCh37] ChrX:Xq24 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 | copy number gain | not provided [RCV001281359] | ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 | copy number loss | not provided [RCV001259005] | ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:26239 | AgrOrtholog |
COSMIC | STEEP1 | COSMIC |
Ensembl Genes | ENSG00000018610 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000320345 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000441786 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000494123 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000320339 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000536133 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000644802 | ENTREZGENE, UniProtKB/Swiss-Prot | |
GTEx | ENSG00000018610 | GTEx |
HGNC ID | HGNC:26239 | ENTREZGENE |
Human Proteome Map | STEEP1 | Human Proteome Map |
InterPro | UPF0428 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:63932 | UniProtKB/Swiss-Prot |
NCBI Gene | 63932 | ENTREZGENE |
OMIM | 301012 | OMIM |
301013 | OMIM | |
PANTHER | PTHR46355 | UniProtKB/Swiss-Prot |
PharmGKB | PA143485444 | PharmGKB |
UniProt | CX056_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
UniProt Secondary | A8MPX7 | UniProtKB/Swiss-Prot |
B4DQN2 | UniProtKB/Swiss-Prot | |
D3DWH9 | UniProtKB/Swiss-Prot | |
F5GWL7 | UniProtKB/Swiss-Prot | |
O43351 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2020-12-07 | STEEP1 | STING1 ER exit protein 1 | CXorf56 | chromosome X open reading frame 56 | Symbol and/or name change | 19259463 | PROVISIONAL |