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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Liver Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19255062 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Liver Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19255062 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline |
3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | RGD automated import pipeline for gene-chemical interactions |
5. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
6. | Shilatifard A Annu Rev Biochem. 2012;81:65-95. doi: 10.1146/annurev-biochem-051710-134100. |
PMID:1448082 | PMID:1605216 | PMID:1870093 | PMID:7590226 | PMID:7597030 | PMID:7829097 | PMID:7876203 | PMID:8392914 | PMID:8454622 | PMID:8661027 | PMID:9199328 | PMID:9271389 |
PMID:9315674 | PMID:9389645 | PMID:9658067 | PMID:9822615 | PMID:9889203 | PMID:10623756 | PMID:10629049 | PMID:10637318 | PMID:10675337 | PMID:10779346 | PMID:10821850 | PMID:10871379 |
PMID:10958670 | PMID:10976766 | PMID:11340173 | PMID:11384994 | PMID:11733490 | PMID:12149646 | PMID:12235138 | PMID:12244100 | PMID:12271126 | PMID:12456665 | PMID:12477932 | PMID:12670868 |
PMID:12743030 | PMID:14532282 | PMID:14983011 | PMID:15190068 | PMID:15199122 | PMID:15200950 | PMID:15489334 | PMID:15522876 | PMID:15705566 | PMID:15931389 | PMID:15960975 | PMID:15966902 |
PMID:16042417 | PMID:16227571 | PMID:16624878 | PMID:16633736 | PMID:16964243 | PMID:17081983 | PMID:17567994 | PMID:17578910 | PMID:17612494 | PMID:17643375 | PMID:17846119 | PMID:17998332 |
PMID:18029348 | PMID:18271526 | PMID:18343819 | PMID:18391022 | PMID:18520591 | PMID:18585351 | PMID:18838386 | PMID:18838538 | PMID:19131338 | PMID:19188440 | PMID:19292868 | PMID:19322201 |
PMID:19615732 | PMID:19763085 | PMID:19815555 | PMID:19913121 | PMID:19946888 | PMID:20018852 | PMID:20091349 | PMID:20126307 | PMID:20133788 | PMID:20200153 | PMID:20211142 | PMID:20301503 |
PMID:20305087 | PMID:20360068 | PMID:20479123 | PMID:20516061 | PMID:20622854 | PMID:20628086 | PMID:20805357 | PMID:21081666 | PMID:21145461 | PMID:21285374 | PMID:21295698 | PMID:21319273 |
PMID:21484256 | PMID:21642991 | PMID:21653943 | PMID:21670149 | PMID:21873635 | PMID:21903422 | PMID:21909281 | PMID:22371484 | PMID:22412018 | PMID:22586326 | PMID:22683710 | PMID:22863883 |
PMID:22883232 | PMID:22939629 | PMID:23000143 | PMID:23022380 | PMID:23045687 | PMID:23353889 | PMID:23539139 | PMID:23583719 | PMID:23629655 | PMID:23870121 | PMID:24011988 | PMID:24211834 |
PMID:24311690 | PMID:24332808 | PMID:24457600 | PMID:24703950 | PMID:24748658 | PMID:24981860 | PMID:25036637 | PMID:25332235 | PMID:25437553 | PMID:25451922 | PMID:25468996 | PMID:25472883 |
PMID:25595573 | PMID:25609649 | PMID:25740848 | PMID:25798074 | PMID:25900982 | PMID:25921289 | PMID:26075789 | PMID:26186194 | PMID:26305326 | PMID:26344197 | PMID:26416890 | PMID:26419610 |
PMID:26496610 | PMID:26522729 | PMID:26638075 | PMID:26678539 | PMID:26831064 | PMID:26949251 | PMID:26972000 | PMID:27009953 | PMID:27294441 | PMID:27320910 | PMID:27563068 | PMID:27576892 |
PMID:27634302 | PMID:27684187 | PMID:27703004 | PMID:27705803 | PMID:28242625 | PMID:28481362 | PMID:28486698 | PMID:28514442 | PMID:28515276 | PMID:29053956 | PMID:29180619 | PMID:29229926 |
PMID:29459360 | PMID:29490077 | PMID:29507755 | PMID:29844126 | PMID:29845934 | PMID:29941490 | PMID:29955894 | PMID:29991511 | PMID:30021884 | PMID:30196744 | PMID:30224358 | PMID:30415952 |
PMID:30463901 | PMID:30585266 | PMID:30585729 | PMID:30804502 | PMID:30833792 | PMID:30948266 | PMID:31048545 | PMID:31076518 | PMID:31091453 | PMID:31180492 | PMID:31227231 | PMID:31536960 |
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stSG603722 |
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stSG603724 |
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stSG603725 |
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stSG603726 |
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stSG603727 |
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stSG603728 |
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stSG603729 |
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stSG603730 |
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stSG603731 |
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stSG603732 |
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G10720 |
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STS-D20139 |
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RH70255 |
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G54827 |
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G54828 |
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GDB:594111 |
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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 | 2392 | 1893 | 1452 | 357 | 1361 | 206 | 4171 | 1725 | 2560 | 299 | 1437 | 1597 | 164 | 1184 | 2619 | 3 | ||
Low | 47 | 1097 | 274 | 267 | 589 | 259 | 185 | 472 | 1174 | 120 | 23 | 16 | 11 | 1 | 20 | 169 | 3 | 2 |
Below cutoff | 1 | 1 |
RefSeq Transcripts | NG_012513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_005334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006724815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006724816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011531147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011531148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017029471 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017029472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC010606 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC019887 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC030560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC063435 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ655939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KX710180 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L20010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U52112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X79198 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X84221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000310441 ⟹ ENSP00000309555 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000369984 ⟹ ENSP00000359001 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000444191 ⟹ ENSP00000399589 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000461098 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_005334 ⟹ NP_005325 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006724815 ⟹ XP_006724878 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006724816 ⟹ XP_006724879 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011531147 ⟹ XP_011529449 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011531148 ⟹ XP_011529450 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017029471 ⟹ XP_016884960 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017029472 ⟹ XP_016884961 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
Protein RefSeqs | NP_005325 | (Get FASTA) | NCBI Sequence Viewer |
XP_006724878 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006724879 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011529449 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011529450 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016884960 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016884961 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH19887 | (Get FASTA) | NCBI Sequence Viewer |
AAH30560 | (Get FASTA) | NCBI Sequence Viewer | |
AAH63435 | (Get FASTA) | NCBI Sequence Viewer | |
ASU47377 | (Get FASTA) | NCBI Sequence Viewer | |
CAA55790 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72767 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72768 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72769 | (Get FASTA) | NCBI Sequence Viewer | |
P51610 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_005325 ⟸ NM_005334 |
- UniProtKB: | P51610 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006724879 ⟸ XM_006724816 |
- Peptide Label: | isoform X2 |
- UniProtKB: | P51610 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006724878 ⟸ XM_006724815 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A6NEM2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011529450 ⟸ XM_011531148 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_011529449 ⟸ XM_011531147 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_016884960 ⟸ XM_017029471 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_016884961 ⟸ XM_017029472 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | ENSP00000309555 ⟸ ENST00000310441 |
RefSeq Acc Id: | ENSP00000399589 ⟸ ENST00000444191 |
RefSeq Acc Id: | ENSP00000359001 ⟸ ENST00000369984 |
RGD ID: | 6808905 | ||||||||
Promoter ID: | HG_KWN:68594 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000280573 | ||||||||
Position: |
|
RGD ID: | 6808904 | ||||||||
Promoter ID: | HG_KWN:68595 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000061100 | ||||||||
Position: |
|
RGD ID: | 6808753 | ||||||||
Promoter ID: | HG_KWN:68597 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000354233, ENST00000369984 | ||||||||
Position: |
|
RGD ID: | 6808902 | ||||||||
Promoter ID: | HG_KWN:68598 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000061099 | ||||||||
Position: |
|
RGD ID: | 13628564 | ||||||||
Promoter ID: | EPDNEW_H29520 | ||||||||
Type: | initiation region | ||||||||
Name: | HCFC1_2 | ||||||||
Description: | host cell factor C1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H29521 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13628566 | ||||||||
Promoter ID: | EPDNEW_H29521 | ||||||||
Type: | initiation region | ||||||||
Name: | HCFC1_1 | ||||||||
Description: | host cell factor C1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H29520 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_005334.3(HCFC1):c.-970T>C | single nucleotide variant | Mental retardation 3, X-linked [RCV000032896] | ChrX:153971810 [GRCh38] ChrX:153237261 [GRCh37] ChrX:152890455 [NCBI36] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) | single nucleotide variant | Mental retardation 3, X-linked [RCV000032897]|not provided [RCV000059786] | ChrX:153963263 [GRCh38] ChrX:153228714 [GRCh37] ChrX:Xq28 |
pathogenic|not provided |
NM_005334.3(HCFC1):c.3344G>T (p.Gly1115Val) | single nucleotide variant | not provided [RCV000521058] | ChrX:153955055 [GRCh38] ChrX:153220506 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) | single nucleotide variant | not provided [RCV000904712]|not specified [RCV000605580] | ChrX:153957354 [GRCh38] ChrX:153222805 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 | copy number gain | See cases [RCV000133911] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
NM_005334.3(HCFC1):c.2029-7_2029-6insTAA | insertion | not provided [RCV000519421] | ChrX:153957892..153957893 [GRCh38] ChrX:153223343..153223344 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) | single nucleotide variant | Mental retardation 3, X-linked [RCV000057506] | ChrX:153964283 [GRCh38] ChrX:153229734 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) | single nucleotide variant | Cobalamin C disease [RCV001199845]|Intellectual disability [RCV000224133]|Mental retardation 3, X-linked [RCV000057507]|not provided [RCV000224484] | ChrX:153964702 [GRCh38] ChrX:153230153 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) | single nucleotide variant | Mental retardation 3, X-linked [RCV000057508] | ChrX:153964703 [GRCh38] ChrX:153230154 [GRCh37] ChrX:Xq28 |
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 Xq28(chrX:150036146-156022206)x3 | copy number gain | See cases [RCV000050946] | ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28 |
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 Xq28(chrX:153929344-154367160)x3 | copy number gain | See cases [RCV000050852] | ChrX:153929344..154367160 [GRCh38] ChrX:153333946..153595528 [GRCh37] ChrX:152847991..153248722 [NCBI36] ChrX:Xq28 |
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:10679-156022206)x1 | copy number loss | See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 | copy number gain | See cases [RCV000050657] | ChrX:149989929..156022206 [GRCh38] ChrX:149158160..155251871 [GRCh37] ChrX:148908818..154905065 [NCBI36] ChrX:Xq28 |
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 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 Xq27.3-28(chrX:145879711-156022206)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] | ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 | copy number loss | See cases [RCV000051750] | ChrX:153296806..155699618 [GRCh38] ChrX:152568327..154929279 [GRCh37] ChrX:152215458..154582473 [NCBI36] ChrX:Xq28 |
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 Xq26.3-28(chrX:136956500-156020993)x1 | copy number loss | See cases [RCV000051732] | ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] | ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28 |
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 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 | copy number gain | See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] | ChrX:153722500..154367160 [GRCh38] ChrX:152641149..153248722 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 | copy number gain | See cases [RCV000052525] | ChrX:153769547..154394658 [GRCh38] ChrX:152688196..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 | copy number gain | See cases [RCV000052527] | ChrX:153777340..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152695989..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 | copy number gain | See cases [RCV000052528] | ChrX:153787044..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152705693..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 | copy number gain | See cases [RCV000052529] | ChrX:153932045..155611794 [GRCh38] ChrX:152850692..154494649 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] | ChrX:152932818..156022206 [GRCh38] ChrX:152173071..155251871 [GRCh37] ChrX:151852018..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 | copy number gain | See cases [RCV000052491] | ChrX:153395425..155687381 [GRCh38] ChrX:152314077..154570236 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 | copy number gain | See cases [RCV000052492] | ChrX:153504314..154144797 [GRCh38] ChrX:152422966..153063464 [NCBI36] ChrX:Xq28 |
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 Xq27.1-28(chrX:140226495-155687381)x2 | copy number gain | See cases [RCV000052471] | ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 | copy number gain | See cases [RCV000052474] | ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 | copy number gain | See cases [RCV000052475] | ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] | ChrX:153585420..154427385 [GRCh38] ChrX:152864376..153655730 [GRCh37] ChrX:152504072..153308924 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 | copy number gain | See cases [RCV000052522] | ChrX:153590730..154380801 [GRCh38] ChrX:152864376..153609161 [GRCh37] ChrX:152509382..153262355 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 | copy number gain | See cases [RCV000052523] | ChrX:153714542..154380803 [GRCh38] ChrX:152633191..153262357 [NCBI36] ChrX:Xq28 |
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 |
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) | single nucleotide variant | Mental retardation 3, X-linked [RCV000660486] | ChrX:153954084 [GRCh38] ChrX:153219535 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg) | single nucleotide variant | Mental retardation 3, X-linked [RCV001248497] | ChrX:153951444 [GRCh38] ChrX:153216895 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) | single nucleotide variant | not provided [RCV000081289] | ChrX:153960046 [GRCh38] ChrX:153225497 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) | single nucleotide variant | not specified [RCV000081290] | ChrX:153956206 [GRCh38] ChrX:153221657 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) | single nucleotide variant | not specified [RCV000081291] | ChrX:153954909 [GRCh38] ChrX:153220360 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005334.3(HCFC1):c.3550G>A (p.Gly1184Arg) | single nucleotide variant | not provided [RCV000081292] | ChrX:153954849 [GRCh38] ChrX:153220300 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) | single nucleotide variant | not specified [RCV000081293] | ChrX:153954214 [GRCh38] ChrX:153219665 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) | single nucleotide variant | not specified [RCV000081294] | ChrX:153950388 [GRCh38] ChrX:153215839 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) | single nucleotide variant | not specified [RCV000117213] | ChrX:153957384 [GRCh38] ChrX:153222835 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) | single nucleotide variant | not specified [RCV000117214] | ChrX:153955513 [GRCh38] ChrX:153220964 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) | single nucleotide variant | not provided [RCV000117215]|not specified [RCV000599889] | ChrX:153955109 [GRCh38] ChrX:153220560 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) | single nucleotide variant | Mental retardation 3, X-linked [RCV000948165]|not specified [RCV000117216] | ChrX:153954831 [GRCh38] ChrX:153220282 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) | single nucleotide variant | not specified [RCV000117217] | ChrX:153952914 [GRCh38] ChrX:153218365 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
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_005334.3(HCFC1):c.4790C>T (p.Ala1597Val) | single nucleotide variant | Mental retardation 3, X-linked [RCV001248508] | ChrX:153952666 [GRCh38] ChrX:153218117 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.503+14C>G | single nucleotide variant | not provided [RCV000514082]|not specified [RCV000613088] | ChrX:153964110 [GRCh38] ChrX:153229561 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) | single nucleotide variant | Inborn genetic diseases [RCV000190805]|not provided [RCV000922964] | ChrX:153955043 [GRCh38] ChrX:153220494 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg) | single nucleotide variant | Inborn genetic diseases [RCV000190708] | ChrX:153950387 [GRCh38] ChrX:153215838 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala) | single nucleotide variant | Mental retardation 3, X-linked [RCV001302901] | ChrX:153951399 [GRCh38] ChrX:153216850 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000638559]|not specified [RCV000174341] | ChrX:153957806 [GRCh38] ChrX:153223257 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 | copy number loss | See cases [RCV000133818] | ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28 |
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)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)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) | single nucleotide variant | Mental retardation 3, X-linked [RCV000602586]|not specified [RCV000174905] | ChrX:153956670 [GRCh38] ChrX:153222121 [GRCh37] ChrX:Xq28 |
benign|likely benign |
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: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 Xq27.3-28(chrX:144627217-155434735)x3 | copy number gain | See cases [RCV000133725] | ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28 |
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 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 Xq28(chrX:153855152-154092314)x2 | copy number gain | See cases [RCV000135840] | ChrX:153855152..154092314 [GRCh38] ChrX:152773801..153010966 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 | copy number gain | See cases [RCV000135451] | ChrX:153296806..154604471 [GRCh38] ChrX:152568327..153832724 [GRCh37] ChrX:152215458..153485918 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 | copy number loss | See cases [RCV000135552] | ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 | copy number loss | See cases [RCV000135454] | ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 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 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 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-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 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 Xq27.1-28(chrX:140783390-155611114)x2 | copy number gain | See cases [RCV000135881] | ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28 |
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 Xq27.2-28(chrX:141650284-156022206)x1 | copy number loss | See cases [RCV000136912] | ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28 |
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 Xq28(chrX:153322656-155522304)x2 | copy number gain | See cases [RCV000136716] | ChrX:153322656..155522304 [GRCh38] ChrX:152864376..154751965 [GRCh37] ChrX:152241308..154405159 [NCBI36] ChrX:Xq28 |
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 Xq28(chrX:151750863-155522304)x1 | copy number loss | See cases [RCV000136718] | ChrX:151750863..155522304 [GRCh38] ChrX:150919335..154751965 [GRCh37] ChrX:150669991..154405159 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 | copy number gain | See cases [RCV000137498] | ChrX:153276277..156003242 [GRCh38] ChrX:152465185..155232907 [GRCh37] ChrX:152118379..154886101 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 | copy number gain | See cases [RCV000137536] | ChrX:153667032..154394658 [GRCh38] ChrX:152585681..153276194 [NCBI36] ChrX:Xq28 |
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 Xq28(chrX:153813894-154140759)x2 | copy number gain | See cases [RCV000137153] | ChrX:153813894..154140759 [GRCh38] ChrX:152732543..153059427 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 | copy number loss | See cases [RCV000137257] | ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
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 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 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 Xq27.3-28(chrX:143553831-156003229)x1 | copy number loss | See cases [RCV000138679] | ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28 |
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 Xq28(chrX:153727116-154555423)x2 | copy number gain | See cases [RCV000138393] | ChrX:153727116..154555423 [GRCh38] ChrX:153333946..153783638 [GRCh37] ChrX:152645765..153436832 [NCBI36] ChrX:Xq28 |
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 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 Xq21.1-28(chrX:82211310-156003229)x1 | copy number loss | See cases [RCV000139400] | ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 | copy number gain | See cases [RCV000139416] | ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-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 Xq28(chrX:153813894-154383071)x2 | copy number gain | See cases [RCV000140524] | ChrX:153813894..154383071 [GRCh38] ChrX:153079349..153611431 [GRCh37] ChrX:152732543..153264625 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 | copy number gain | See cases [RCV000140532] | ChrX:153451351..154230630 [GRCh38] ChrX:152716809..153496099 [GRCh37] ChrX:152370003..153149293 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 | copy number gain | See cases [RCV000140537] | ChrX:153802827..154294817 [GRCh38] ChrX:153068282..153523170 [GRCh37] ChrX:152721476..153176364 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 | copy number loss | See cases [RCV000139724] | ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28 |
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 Xq28(chrX:153861449-154140759)x2 | copy number gain | See cases [RCV000143114] | ChrX:153861449..154140759 [GRCh38] ChrX:152780098..153059427 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 | copy number gain | See cases [RCV000143002] | ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28 |
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 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 |
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) | single nucleotide variant | not specified [RCV000153347] | ChrX:153952911 [GRCh38] ChrX:153218362 [GRCh37] ChrX:Xq28 |
benign |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000148135] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000148141] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) | single nucleotide variant | not provided [RCV000153346] | ChrX:153949579 [GRCh38] ChrX:153215030 [GRCh37] ChrX:Xq28 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) | single nucleotide variant | Mental retardation 3, X-linked [RCV000969004]|not specified [RCV000193244] | ChrX:153955527 [GRCh38] ChrX:153220978 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005334.3(HCFC1):c.713-13C>T | single nucleotide variant | not specified [RCV000178905] | ChrX:153962319 [GRCh38] ChrX:153227770 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.905-3C>T | single nucleotide variant | Mental retardation 3, X-linked [RCV001325203]|not specified [RCV000195219] | ChrX:153960417 [GRCh38] ChrX:153225868 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_005334.3(HCFC1):c.1047C>G (p.Asn349Lys) | single nucleotide variant | not provided [RCV000179904] | ChrX:153960272 [GRCh38] ChrX:153225723 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5664T>G (p.Pro1888=) | single nucleotide variant | not provided [RCV000176405] | ChrX:153950852 [GRCh38] ChrX:153216303 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 |
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) | single nucleotide variant | not specified [RCV000193189] | ChrX:153954709 [GRCh38] ChrX:153220160 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.984C>T (p.Val328=) | single nucleotide variant | not specified [RCV000193208] | ChrX:153960335 [GRCh38] ChrX:153225786 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) | single nucleotide variant | not specified [RCV000193817] | ChrX:153956951 [GRCh38] ChrX:153222402 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) | single nucleotide variant | not specified [RCV000194081] | ChrX:153955273 [GRCh38] ChrX:153220724 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1084+8C>T | single nucleotide variant | not specified [RCV000194817] | ChrX:153960227 [GRCh38] ChrX:153225678 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000638561]|not specified [RCV000194960] | ChrX:153954907 [GRCh38] ChrX:153220358 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) | single nucleotide variant | not specified [RCV000195023] | ChrX:153956356 [GRCh38] ChrX:153221807 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5528G>C (p.Gly1843Ala) | single nucleotide variant | not specified [RCV000194390] | ChrX:153950988 [GRCh38] ChrX:153216439 [GRCh37] ChrX:Xq28 |
uncertain significance |
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_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) | single nucleotide variant | Mental retardation 3, X-linked [RCV000209921] | ChrX:153952053 [GRCh38] ChrX:153217504 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5374G>T (p.Gly1792Cys) | single nucleotide variant | not provided [RCV000224398] | ChrX:153951594 [GRCh38] ChrX:153217045 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) | single nucleotide variant | Mental retardation 3, X-linked [RCV000224972]|not provided [RCV000493756] | ChrX:153959817 [GRCh38] ChrX:153225268 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3990C>T (p.Thr1330=) | single nucleotide variant | not provided [RCV000757369] | ChrX:153954409 [GRCh38] ChrX:153219860 [GRCh37] ChrX:Xq28 |
likely benign |
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:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 | copy number gain | See cases [RCV000239929] | ChrX:153047627..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 | copy number gain | See cases [RCV000239969] | ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.3829G>A (p.Ala1277Thr) | single nucleotide variant | Inborn genetic diseases [RCV000623828] | ChrX:153954570 [GRCh38] ChrX:153220021 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 Xq28(chrX:152993910-153555804)x2 | copy number gain | See cases [RCV000240396] | ChrX:152993910..153555804 [GRCh37] ChrX:Xq28 |
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 Xq27.3-28(chrX:142174780-155250222)x2 | copy number gain | See cases [RCV000240530] | ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28 |
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 |
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) | single nucleotide variant | Mental retardation 3, X-linked [RCV001247405]|not provided [RCV000487553] | ChrX:153956634 [GRCh38] ChrX:153222085 [GRCh37] ChrX:Xq28 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_005334.3(HCFC1):c.1085-12G>A | single nucleotide variant | not specified [RCV000350506] | ChrX:153960173 [GRCh38] ChrX:153225624 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2144C>T (p.Pro715Leu) | single nucleotide variant | not provided [RCV000520339] | ChrX:153957523 [GRCh38] ChrX:153222974 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) | single nucleotide variant | not provided [RCV000638564] | ChrX:153954546 [GRCh38] ChrX:153219997 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1741G>A (p.Ala581Thr) | single nucleotide variant | not provided [RCV000284130] | ChrX:153958631 [GRCh38] ChrX:153224082 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4333+11G>T | single nucleotide variant | not specified [RCV000605212] | ChrX:153954055 [GRCh38] ChrX:153219506 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2857-23CTC[2] | microsatellite | not provided [RCV000312798] | ChrX:153955557..153955559 [GRCh38] ChrX:153221008..153221010 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) | single nucleotide variant | Inborn genetic diseases [RCV000622815] | ChrX:153951668 [GRCh38] ChrX:153217119 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) | single nucleotide variant | not specified [RCV000606850] | ChrX:153954124 [GRCh38] ChrX:153219575 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4759C>T (p.Leu1587Phe) | single nucleotide variant | Inborn genetic diseases [RCV000624789] | ChrX:153952697 [GRCh38] ChrX:153218148 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) | single nucleotide variant | not specified [RCV000603325] | ChrX:153958650 [GRCh38] ChrX:153224101 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4086C>T (p.Thr1362=) | single nucleotide variant | Kabuki syndrome 1 [RCV000578143] | ChrX:153954313 [GRCh38] ChrX:153219764 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) | single nucleotide variant | Mental retardation 3, X-linked [RCV001314423]|not provided [RCV000522865] | ChrX:153954507 [GRCh38] ChrX:153219958 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1102G>T (p.Ala368Ser) | single nucleotide variant | not provided [RCV000585340] | ChrX:153960144 [GRCh38] ChrX:153225595 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) | deletion | Mental retardation 3, X-linked [RCV001262125]|not provided [RCV000599399] | ChrX:153952113..153952118 [GRCh38] ChrX:153217564..153217569 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) | single nucleotide variant | not specified [RCV000604571] | ChrX:153957315 [GRCh38] ChrX:153222766 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.6005-18C>G | single nucleotide variant | not specified [RCV000602908] | ChrX:153949634 [GRCh38] ChrX:153215085 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4981A>G (p.Thr1661Ala) | single nucleotide variant | not provided [RCV000729776] | ChrX:153952120 [GRCh38] ChrX:153217571 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg) | single nucleotide variant | not specified [RCV000412955] | ChrX:153953629 [GRCh38] ChrX:153219080 [GRCh37] ChrX:Xq28 |
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: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: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 Xq28(chrX:152228560-154930047)x2 | copy number gain | See cases [RCV000447331] | ChrX:152228560..154930047 [GRCh37] ChrX:Xq28 |
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 Xq28(chrX:152970475-153524157)x2 | copy number gain | See cases [RCV000447506] | ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
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 Xq28(chrX:150253008-155233731)x1 | copy number loss | See cases [RCV000446761] | ChrX:150253008..155233731 [GRCh37] ChrX:Xq28 |
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 |
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) | single nucleotide variant | Mental retardation 3, X-linked [RCV001079896]|not provided [RCV000443342]|not specified [RCV000614054] | ChrX:153954240 [GRCh38] ChrX:153219691 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1605+16T>G | single nucleotide variant | not specified [RCV000420868] | ChrX:153959315 [GRCh38] ChrX:153224766 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=) | single nucleotide variant | not provided [RCV000937239]|not specified [RCV000423908] | ChrX:153955144 [GRCh38] ChrX:153220595 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) | single nucleotide variant | Mental retardation 3, X-linked [RCV001078679]|not provided [RCV000960626]|not specified [RCV000441870] | ChrX:153951670 [GRCh38] ChrX:153217121 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000948164]|not specified [RCV000418071] | ChrX:153953640 [GRCh38] ChrX:153219091 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) | single nucleotide variant | not specified [RCV000424409] | ChrX:153956404 [GRCh38] ChrX:153221855 [GRCh37] ChrX:Xq28 |
likely benign |
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_005334.3(HCFC1):c.5808C>T (p.Gly1936=) | single nucleotide variant | not specified [RCV000428167] | ChrX:153950439 [GRCh38] ChrX:153215890 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000883327]|not specified [RCV000431822] | ChrX:153952830 [GRCh38] ChrX:153218281 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) | single nucleotide variant | not specified [RCV000438543] | ChrX:153950496 [GRCh38] ChrX:153215947 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1804-18C>T | single nucleotide variant | not specified [RCV000438615] | ChrX:153958267 [GRCh38] ChrX:153223718 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.6004+14G>A | single nucleotide variant | not specified [RCV000418614] | ChrX:153950229 [GRCh38] ChrX:153215680 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) | single nucleotide variant | not specified [RCV000438821] | ChrX:153951628 [GRCh38] ChrX:153217079 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) | single nucleotide variant | not provided [RCV000910760]|not specified [RCV000442489] | ChrX:153954496 [GRCh38] ChrX:153219947 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1605+20G>T | single nucleotide variant | not specified [RCV000435401] | ChrX:153959311 [GRCh38] ChrX:153224762 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000973917]|not specified [RCV000421721] | ChrX:153952731 [GRCh38] ChrX:153218182 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) | single nucleotide variant | not specified [RCV000439248] | ChrX:153954895 [GRCh38] ChrX:153220346 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) | single nucleotide variant | not specified [RCV000442976] | ChrX:153959376 [GRCh38] ChrX:153224827 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) | single nucleotide variant | Mental retardation 3, X-linked [RCV001079029]|not provided [RCV000424988]|not specified [RCV000479564] | ChrX:153951449 [GRCh38] ChrX:153216900 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000638563]|not specified [RCV000436258] | ChrX:153957032 [GRCh38] ChrX:153222483 [GRCh37] ChrX:Xq28 |
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_005334.3(HCFC1):c.4881G>A (p.Thr1627=) | single nucleotide variant | not specified [RCV000436275] | ChrX:153952575 [GRCh38] ChrX:153218026 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) | single nucleotide variant | not specified [RCV000419932] | ChrX:153957020 [GRCh38] ChrX:153222471 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000891074]|not specified [RCV000422700] | ChrX:153960127 [GRCh38] ChrX:153225578 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1472G>T (p.Gly491Val) | single nucleotide variant | not specified [RCV000426252] | ChrX:153959464 [GRCh38] ChrX:153224915 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) | single nucleotide variant | Mental retardation 3, X-linked [RCV000885849]|not specified [RCV000429760] | ChrX:153954642 [GRCh38] ChrX:153220093 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) | single nucleotide variant | Mental retardation 3, X-linked [RCV000638565]|not specified [RCV000440143] | ChrX:153953662 [GRCh38] ChrX:153219113 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met) | single nucleotide variant | not provided [RCV000443814] | ChrX:153952117 [GRCh38] ChrX:153217568 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1085-16C>G | single nucleotide variant | not specified [RCV000422878] | ChrX:153960177 [GRCh38] ChrX:153225628 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2584G>A (p.Val862Ile) | single nucleotide variant | not provided [RCV000429898] | ChrX:153956676 [GRCh38] ChrX:153222127 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.6005-12C>G | single nucleotide variant | not specified [RCV000433362] | ChrX:153949628 [GRCh38] ChrX:153215079 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.6005-12C>T | single nucleotide variant | not specified [RCV000433373] | ChrX:153949628 [GRCh38] ChrX:153215079 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) | single nucleotide variant | not specified [RCV000440500] | ChrX:153955381 [GRCh38] ChrX:153220832 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) | single nucleotide variant | Mental retardation 3, X-linked [RCV001088878]|not provided [RCV000969389]|not specified [RCV000423087] | ChrX:153954331 [GRCh38] ChrX:153219782 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000970564]|not specified [RCV000444476] | ChrX:153956260 [GRCh38] ChrX:153221711 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1445-14C>T | single nucleotide variant | not specified [RCV000423437] | ChrX:153959505 [GRCh38] ChrX:153224956 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) | single nucleotide variant | not specified [RCV000434101] | ChrX:153951350 [GRCh38] ChrX:153216801 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=) | single nucleotide variant | not provided [RCV000927588]|not specified [RCV000441139] | ChrX:153954217 [GRCh38] ChrX:153219668 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) | single nucleotide variant | Mental retardation 3, X-linked [RCV001080457]|not provided [RCV000441909]|not specified [RCV000613623] | ChrX:153954605 [GRCh38] ChrX:153220056 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 | copy number gain | See cases [RCV000448796] | ChrX:152886474..153368990 [GRCh37] ChrX:Xq28 |
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 Xq26.3-28(chrX:134114063-155233731)x1 | copy number loss | See cases [RCV000448865] | ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) | single nucleotide variant | Mental retardation 3, X-linked [RCV001089332]|not provided [RCV000514364] | ChrX:153955425 [GRCh38] ChrX:153220876 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1781_1803+3delinsCA | indel | not provided [RCV000486422] | ChrX:153958566..153958591 [GRCh38] ChrX:153224017..153224042 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_005334.3(HCFC1):c.5997G>T (p.Trp1999Cys) | single nucleotide variant | not provided [RCV000486458] | ChrX:153950250 [GRCh38] ChrX:153215701 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) | single nucleotide variant | not provided [RCV000766506]|not specified [RCV000482310] | ChrX:153952837 [GRCh38] ChrX:153218288 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) | single nucleotide variant | not provided [RCV000478950] | ChrX:153952546 [GRCh38] ChrX:153217997 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=) | single nucleotide variant | not provided [RCV000904097]|not specified [RCV000501063] | ChrX:153960124 [GRCh38] ChrX:153225575 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 | copy number gain | See cases [RCV000510478] | ChrX:151201777..154741703 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) | single nucleotide variant | not specified [RCV000503529] | ChrX:153957378 [GRCh38] ChrX:153222829 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) | single nucleotide variant | not specified [RCV000503750] | ChrX:153954553 [GRCh38] ChrX:153220004 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) | single nucleotide variant | not specified [RCV000503991] | ChrX:153955129 [GRCh38] ChrX:153220580 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1251C>T (p.Val417=) | single nucleotide variant | not specified [RCV000504035] | ChrX:153959995 [GRCh38] ChrX:153225446 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4722A>C (p.Pro1574=) | single nucleotide variant | not specified [RCV000499415] | ChrX:153952734 [GRCh38] ChrX:153218185 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) | single nucleotide variant | not specified [RCV000499852] | ChrX:153960032 [GRCh38] ChrX:153225483 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) | single nucleotide variant | not specified [RCV000502145] | ChrX:153956656 [GRCh38] ChrX:153222107 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1461C>T (p.Leu487=) | single nucleotide variant | not specified [RCV000502570] | ChrX:153959475 [GRCh38] ChrX:153224926 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000974787]|not specified [RCV000502520] | ChrX:153962302 [GRCh38] ChrX:153227753 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1692A>G (p.Ala564=) | single nucleotide variant | not specified [RCV000500475] | ChrX:153958680 [GRCh38] ChrX:153224131 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4594G>A (p.Ala1532Thr) | single nucleotide variant | not specified [RCV000502967] | ChrX:153952862 [GRCh38] ChrX:153218313 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 | copy number gain | See cases [RCV000510362] | ChrX:153097608..153681801 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=) | single nucleotide variant | not specified [RCV000500679] | ChrX:153954934 [GRCh38] ChrX:153220385 [GRCh37] ChrX:Xq28 |
likely benign |
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 |
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala) | single nucleotide variant | not provided [RCV000494599] | ChrX:153956718 [GRCh38] ChrX:153222169 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 | copy number loss | See cases [RCV000511936] | ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) | single nucleotide variant | Mental retardation 3, X-linked [RCV000766079]|not specified [RCV000507069] | ChrX:153952880 [GRCh38] ChrX:153218331 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 | copy number loss | See cases [RCV000511482] | ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_005334.3(HCFC1):c.5491C>T (p.Pro1831Ser) | single nucleotide variant | not provided [RCV000492897] | ChrX:153951376 [GRCh38] ChrX:153216827 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.4969G>A (p.Glu1657Lys) | single nucleotide variant | not provided [RCV000493062] | ChrX:153952132 [GRCh38] ChrX:153217583 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 Xq27.3-28(chrX:146232592-155233731)x1 | copy number loss | See cases [RCV000511228] | ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 | copy number loss | See cases [RCV000510820] | ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 | copy number loss | See cases [RCV000510866] | ChrX:151963528..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 | copy number loss | See cases [RCV000510920] | ChrX:151311551..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 | copy number gain | See cases [RCV000511034] | ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
NM_005334.3(HCFC1):c.2636-16G>T | single nucleotide variant | not specified [RCV000603182] | ChrX:153956427 [GRCh38] ChrX:153221878 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5261-17A>G | single nucleotide variant | not specified [RCV000605541] | ChrX:153951724 [GRCh38] ChrX:153217175 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:153138672-153665655) | copy number gain | Microcytic anemia [RCV000626549] | ChrX:153138672..153665655 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) | single nucleotide variant | not specified [RCV000603271] | ChrX:153955057 [GRCh38] ChrX:153220508 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) | single nucleotide variant | Mental retardation 3, X-linked [RCV000892959]|not specified [RCV000606981] | ChrX:153951692 [GRCh38] ChrX:153217143 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000638562] | ChrX:153957435 [GRCh38] ChrX:153222886 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) | single nucleotide variant | not specified [RCV000615116] | ChrX:153952545 [GRCh38] ChrX:153217996 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000904711]|not specified [RCV000612508] | ChrX:153950289 [GRCh38] ChrX:153215740 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) | single nucleotide variant | not specified [RCV000615853] | ChrX:153955282 [GRCh38] ChrX:153220733 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000920930]|not specified [RCV000602012] | ChrX:153956230 [GRCh38] ChrX:153221681 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) | single nucleotide variant | not specified [RCV000607410] | ChrX:153954358 [GRCh38] ChrX:153219809 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) | single nucleotide variant | not specified [RCV000610345] | ChrX:153954436 [GRCh38] ChrX:153219887 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=) | single nucleotide variant | not provided [RCV000925828]|not specified [RCV000616246] | ChrX:153954181 [GRCh38] ChrX:153219632 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000909461]|not specified [RCV000616391] | ChrX:153955018 [GRCh38] ChrX:153220469 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=) | single nucleotide variant | not specified [RCV000613441] | ChrX:153958644 [GRCh38] ChrX:153224095 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) | single nucleotide variant | not specified [RCV000610738] | ChrX:153954456 [GRCh38] ChrX:153219907 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2856+15G>A | single nucleotide variant | not specified [RCV000613672] | ChrX:153956176 [GRCh38] ChrX:153221627 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000638560]|not specified [RCV000613758] | ChrX:153950915 [GRCh38] ChrX:153216366 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) | single nucleotide variant | not specified [RCV000608374] | ChrX:153956671 [GRCh38] ChrX:153222122 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=) | single nucleotide variant | not specified [RCV000608567] | ChrX:153954814 [GRCh38] ChrX:153220265 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4089T>C (p.Thr1363=) | single nucleotide variant | not specified [RCV000614098] | ChrX:153954310 [GRCh38] ChrX:153219761 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) | single nucleotide variant | not specified [RCV000608858] | ChrX:153964247 [GRCh38] ChrX:153229698 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) | single nucleotide variant | not specified [RCV000614416] | ChrX:153950298 [GRCh38] ChrX:153215749 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.-25C>G | single nucleotide variant | not specified [RCV000614506] | ChrX:153970865 [GRCh38] ChrX:153236316 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4942+9C>T | single nucleotide variant | not specified [RCV000609194] | ChrX:153952505 [GRCh38] ChrX:153217956 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1084+18G>T | single nucleotide variant | not specified [RCV000611823] | ChrX:153960217 [GRCh38] ChrX:153225668 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=) | single nucleotide variant | not specified [RCV000611901] | ChrX:153954763 [GRCh38] ChrX:153220214 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000907145]|not specified [RCV000614618] | ChrX:153954784 [GRCh38] ChrX:153220235 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) | single nucleotide variant | not specified [RCV000614665] | ChrX:153956668 [GRCh38] ChrX:153222119 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.503+3G>A | single nucleotide variant | not specified [RCV000614673] | ChrX:153964121 [GRCh38] ChrX:153229572 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 | copy number gain | See cases [RCV000512403] | ChrX:152899437..153624564 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5517+16T>A | single nucleotide variant | not specified [RCV000600176] | ChrX:153951334 [GRCh38] ChrX:153216785 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5260+17G>C | single nucleotide variant | not specified [RCV000600475] | ChrX:153951824 [GRCh38] ChrX:153217275 [GRCh37] ChrX:Xq28 |
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 |
NC_000023.10:g.(?_153128098)_(153599633_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] | ChrX:153128098..153599633 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=) | single nucleotide variant | not provided [RCV000513072] | ChrX:153952154 [GRCh38] ChrX:153217605 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4001C>T (p.Thr1334Ile) | single nucleotide variant | Inborn genetic diseases [RCV000623608] | ChrX:153954398 [GRCh38] ChrX:153219849 [GRCh37] ChrX:Xq28 |
uncertain significance |
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_005334.3(HCFC1):c.2992G>A (p.Asp998Asn) | single nucleotide variant | not provided [RCV000658053] | ChrX:153955407 [GRCh38] ChrX:153220858 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele | duplication | not provided [RCV000677999] | ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 | copy number loss | not provided [RCV000684386] | ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 | copy number loss | not provided [RCV000684397] | ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 | copy number loss | not provided [RCV000684401] | ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 | copy number gain | not provided [RCV000684402] | ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28 |
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 Xq28(chrX:152628304-153594168)x2 | copy number gain | not provided [RCV000684738] | ChrX:152628304..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 | copy number gain | not provided [RCV000684739] | ChrX:152941302..153438781 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 | copy number gain | not provided [RCV000684741] | ChrX:153123907..153431401 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152954010)_(153599633_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] | ChrX:152954010..153599633 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) | single nucleotide variant | Mental retardation 3, X-linked [RCV000706024] | ChrX:153954246 [GRCh38] ChrX:153219697 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153128823)_(153416424_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] | ChrX:153128823..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128118)_(153416424_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] | ChrX:153128118..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) | single nucleotide variant | Mental retardation 3, X-linked [RCV000696305] | ChrX:153959819 [GRCh38] ChrX:153225270 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153170600)_(153409869_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000708104] | ChrX:153170600..153409869 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153184286)_(153409869_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] | ChrX:153184286..153409869 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 | copy number loss | not provided [RCV000753810] | ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 | copy number gain | not provided [RCV000753922] | ChrX:152806628..153626649 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 | copy number gain | not provided [RCV000753930] | ChrX:153184816..153626794 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 | copy number loss | not provided [RCV000753815] | ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
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:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [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 |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [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 Xq11.1-28(chrX:61694576-155254881)x1 | copy number loss | not provided [RCV000753556] | ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=) | single nucleotide variant | not provided [RCV000917014] | ChrX:153955219 [GRCh38] ChrX:153220670 [GRCh37] ChrX:Xq28 |
likely benign |
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_005334.3(HCFC1):c.4026G>A (p.Thr1342=) | single nucleotide variant | not provided [RCV000906947] | ChrX:153954373 [GRCh38] ChrX:153219824 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000921522] | ChrX:153954940 [GRCh38] ChrX:153220391 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=) | single nucleotide variant | not provided [RCV000901612] | ChrX:153954469 [GRCh38] ChrX:153219920 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000903361] | ChrX:153954136 [GRCh38] ChrX:153219587 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=) | single nucleotide variant | not provided [RCV000898504] | ChrX:153954241 [GRCh38] ChrX:153219692 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000899606] | ChrX:153956380 [GRCh38] ChrX:153221831 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000945281] | ChrX:153954139 [GRCh38] ChrX:153219590 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000914947] | ChrX:153952683 [GRCh38] ChrX:153218134 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000882333] | ChrX:153951377 [GRCh38] ChrX:153216828 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=) | single nucleotide variant | not provided [RCV000966322] | ChrX:153958211 [GRCh38] ChrX:153223662 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3103G>C (p.Ala1035Pro) | single nucleotide variant | not provided [RCV000905314] | ChrX:153955296 [GRCh38] ChrX:153220747 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.237C>A (p.Pro79=) | single nucleotide variant | not provided [RCV000898839] | ChrX:153964683 [GRCh38] ChrX:153230134 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=) | single nucleotide variant | not provided [RCV000902207] | ChrX:153957321 [GRCh38] ChrX:153222772 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) | single nucleotide variant | not provided [RCV000944655] | ChrX:153955171 [GRCh38] ChrX:153220622 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) | single nucleotide variant | Mental retardation 3, X-linked [RCV000884806] | ChrX:153954282 [GRCh38] ChrX:153219733 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:153174571-153609996) | copy number gain | Syndromic X-linked intellectual disability Lubs type [RCV000767661] | ChrX:153174571..153609996 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr) | single nucleotide variant | Mental retardation 3, X-linked [RCV001069603] | ChrX:153951692 [GRCh38] ChrX:153217143 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152954010)_(153363142_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] | ChrX:152954010..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile) | single nucleotide variant | Mental retardation 3, X-linked [RCV001059874] | ChrX:153956379 [GRCh38] ChrX:153221830 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5087_5089AGC[5] (p.Gln1699dup) | microsatellite | not provided [RCV000996052] | ChrX:153952002..153952003 [GRCh38] ChrX:153217453..153217454 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu) | single nucleotide variant | not provided [RCV000996053] | ChrX:153952721 [GRCh38] ChrX:153218172 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4497+4A>G | single nucleotide variant | not provided [RCV000996054] | ChrX:153953603 [GRCh38] ChrX:153219054 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met) | single nucleotide variant | not provided [RCV000996055] | ChrX:153953678 [GRCh38] ChrX:153219129 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) | single nucleotide variant | not provided [RCV000996056] | ChrX:153955188 [GRCh38] ChrX:153220639 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1606-13G>A | single nucleotide variant | not provided [RCV000826295] | ChrX:153958779 [GRCh38] ChrX:153224230 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 | copy number loss | not provided [RCV000847838] | ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
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_005334.3(HCFC1):c.4245G>A (p.Arg1415=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000880816] | ChrX:153954154 [GRCh38] ChrX:153219605 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) | single nucleotide variant | Mental retardation 3, X-linked [RCV000880846] | ChrX:153952760 [GRCh38] ChrX:153218211 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000981510] | ChrX:153956694 [GRCh38] ChrX:153222145 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000930911] | ChrX:153963358 [GRCh38] ChrX:153228809 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000901402] | ChrX:153954103 [GRCh38] ChrX:153219554 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=) | single nucleotide variant | not provided [RCV000979644] | ChrX:153958073 [GRCh38] ChrX:153223524 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000945280] | ChrX:153954133 [GRCh38] ChrX:153219584 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.648C>G (p.Ser216=) | single nucleotide variant | not provided [RCV000896494] | ChrX:153963289 [GRCh38] ChrX:153228740 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3579T>C (p.Leu1193=) | single nucleotide variant | not provided [RCV000901239] | ChrX:153954820 [GRCh38] ChrX:153220271 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000941048] | ChrX:153958674 [GRCh38] ChrX:153224125 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1803+7G>A | single nucleotide variant | not provided [RCV000919143] | ChrX:153958562 [GRCh38] ChrX:153224013 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=) | single nucleotide variant | not provided [RCV000894911] | ChrX:153950903 [GRCh38] ChrX:153216354 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.504-9C>T | single nucleotide variant | not provided [RCV000926078] | ChrX:153963442 [GRCh38] ChrX:153228893 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) | copy number gain | not provided [RCV000767679] | ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NC_000023.10:g.(?_152954020)_(154096327_?)del | deletion | Adrenoleukodystrophy [RCV000815921] | ChrX:152954020..154096327 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) | single nucleotide variant | Mental retardation 3, X-linked [RCV000814705] | ChrX:153954704 [GRCh38] ChrX:153220155 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del) | microsatellite | Mental retardation 3, X-linked [RCV000821246]|not provided [RCV001093006] | ChrX:153951471..153951473 [GRCh38] ChrX:153216922..153216924 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) | single nucleotide variant | Mental retardation 3, X-linked [RCV000821405] | ChrX:153954836 [GRCh38] ChrX:153220287 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2029-17C>T | single nucleotide variant | not provided [RCV000842654] | ChrX:153957903 [GRCh38] ChrX:153223354 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153128108)_(153609567_?)dup | duplication | Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000795425] | ChrX:153128108..153609567 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2134-20C>A | single nucleotide variant | not provided [RCV000827012] | ChrX:153957553 [GRCh38] ChrX:153223004 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.797+247T>C | single nucleotide variant | not provided [RCV000830710] | ChrX:153961975 [GRCh38] ChrX:153227426 [GRCh37] ChrX:Xq28 |
benign |
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_005334.3(HCFC1):c.1407C>T (p.Gly469=) | single nucleotide variant | not provided [RCV000841906] | ChrX:153959839 [GRCh38] ChrX:153225290 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_153137587)_(153363142_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] | ChrX:153137587..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3231C>T (p.Asn1077=) | single nucleotide variant | not provided [RCV000842461] | ChrX:153955168 [GRCh38] ChrX:153220619 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4942+11G>A | single nucleotide variant | not provided [RCV000842468] | ChrX:153952503 [GRCh38] ChrX:153217954 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 | copy number loss | not provided [RCV000849097] | ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NC_000023.10:g.(?_153128098)_(153363142_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] | ChrX:153128098..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.3975C>T (p.His1325=) | single nucleotide variant | not provided [RCV000840109] | ChrX:153954424 [GRCh38] ChrX:153219875 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) | single nucleotide variant | Mental retardation 3, X-linked [RCV000824315] | ChrX:153954290 [GRCh38] ChrX:153219741 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.6069-4C>T | single nucleotide variant | not provided [RCV000917327] | ChrX:153949390 [GRCh38] ChrX:153214841 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2029-9C>G | single nucleotide variant | not provided [RCV000898445] | ChrX:153957895 [GRCh38] ChrX:153223346 [GRCh37] ChrX:Xq28 |
benign |
NC_000023.10:g.(?_152990712)_(153650075_?)del | deletion | Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] | ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) | single nucleotide variant | Mental retardation 3, X-linked [RCV000810818] | ChrX:153954157 [GRCh38] ChrX:153219608 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000817195] | ChrX:153952641 [GRCh38] ChrX:153218092 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1085-22C>G | single nucleotide variant | not provided [RCV000835624] | ChrX:153960183 [GRCh38] ChrX:153225634 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000981626] | ChrX:153958067 [GRCh38] ChrX:153223518 [GRCh37] ChrX:Xq28 |
benign |
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000916133] | ChrX:153964587 [GRCh38] ChrX:153230038 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 | copy number gain | not provided [RCV000846110] | ChrX:153154008..153624566 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 | copy number gain | not provided [RCV000846316] | ChrX:153105400..153438105 [GRCh37] ChrX:Xq28 |
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 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_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu) | single nucleotide variant | Mental retardation 3, X-linked [RCV001227255] | ChrX:153952936 [GRCh38] ChrX:153218387 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg) | indel | Mental retardation 3, X-linked [RCV001239235] | ChrX:153970768 [GRCh38] ChrX:153236219 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=) | single nucleotide variant | Mental retardation 3, X-linked [RCV001223620] | ChrX:153958683 [GRCh38] ChrX:153224134 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.712+6C>T | single nucleotide variant | Mental retardation 3, X-linked [RCV001228849] | ChrX:153963219 [GRCh38] ChrX:153228670 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 Xq25-28(chrX:122757437-155208244)x1 | copy number loss | Premature ovarian insufficiency [RCV000852349] | ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_005334.3(HCFC1):c.979G>A (p.Ala327Thr) | single nucleotide variant | not provided [RCV000996057] | ChrX:153960340 [GRCh38] ChrX:153225791 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=) | single nucleotide variant | not provided [RCV000902634] | ChrX:153956978 [GRCh38] ChrX:153222429 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=) | single nucleotide variant | not provided [RCV000927685] | ChrX:153954274 [GRCh38] ChrX:153219725 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=) | single nucleotide variant | not provided [RCV000976069] | ChrX:153950478 [GRCh38] ChrX:153215929 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=) | single nucleotide variant | not provided [RCV000938356] | ChrX:153955426 [GRCh38] ChrX:153220877 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=) | single nucleotide variant | not provided [RCV000930007] | ChrX:153955120 [GRCh38] ChrX:153220571 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) | single nucleotide variant | not provided [RCV000940194] | ChrX:153954448 [GRCh38] ChrX:153219899 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=) | single nucleotide variant | Mental retardation 3, X-linked [RCV001037014] | ChrX:153959848 [GRCh38] ChrX:153225299 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly) | single nucleotide variant | Mental retardation 3, X-linked [RCV001043818] | ChrX:153953770 [GRCh38] ChrX:153219221 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.2555G>T (p.Gly852Val) | single nucleotide variant | not provided [RCV001093008] | ChrX:153956705 [GRCh38] ChrX:153222156 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met) | single nucleotide variant | Mental retardation 3, X-linked [RCV001228108] | ChrX:153959937 [GRCh38] ChrX:153225388 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) | single nucleotide variant | Mental retardation 3, X-linked [RCV000913412]|not provided [RCV001171653] | ChrX:153951470 [GRCh38] ChrX:153216921 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=) | single nucleotide variant | not provided [RCV000912213] | ChrX:153957351 [GRCh38] ChrX:153222802 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.5784C>T (p.Ala1928=) | single nucleotide variant | not provided [RCV000912374] | ChrX:153950463 [GRCh38] ChrX:153215914 [GRCh37] ChrX:Xq28 |
likely benign |
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) | single nucleotide variant | Mental retardation 3, X-linked [RCV001043826] | ChrX:153954904 [GRCh38] ChrX:153220355 [GRCh37] ChrX:Xq28 |
uncertain significance |
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_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln) | single nucleotide variant | not provided [RCV001093007] | ChrX:153954803 [GRCh38] ChrX:153220254 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 | copy number gain | not provided [RCV001007367] | ChrX:153023149..153345755 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) | single nucleotide variant | Mental retardation 3, X-linked [RCV001231378] | ChrX:153952723 [GRCh38] ChrX:153218174 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 | copy number gain | not provided [RCV001007368] | ChrX:153029046..153567369 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala) | single nucleotide variant | Mental retardation 3, X-linked [RCV001205455] | ChrX:153953681 [GRCh38] ChrX:153219132 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3249C>T (p.His1083=) | single nucleotide variant | not provided [RCV001200552] | ChrX:153955150 [GRCh38] ChrX:153220601 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152990712)_(153650075_?)dup | duplication | Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] | ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr) | single nucleotide variant | Mental retardation 3, X-linked [RCV001232383] | ChrX:153955082 [GRCh38] ChrX:153220533 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp) | single nucleotide variant | Mental retardation 3, X-linked [RCV001064227] | ChrX:153954990 [GRCh38] ChrX:153220441 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 | copy number gain | not provided [RCV001007365] | ChrX:152516781..153368573 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_005334.3(HCFC1):c.4381G>C (p.Gly1461Arg) | single nucleotide variant | Inborn genetic diseases [RCV001267009] | ChrX:153953723 [GRCh38] ChrX:153219174 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) | single nucleotide variant | Mental retardation 3, X-linked [RCV001334385] | ChrX:153952890 [GRCh38] ChrX:153218341 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 | copy number gain | See cases [RCV001263024] | ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_005334.3(HCFC1):c.748G>A (p.Val250Met) | single nucleotide variant | Inborn genetic diseases [RCV001266994] | ChrX:153962271 [GRCh38] ChrX:153227722 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.958C>T (p.Arg320Cys) | single nucleotide variant | Intellectual disability [RCV001260715] | ChrX:153960361 [GRCh38] ChrX:153225812 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met) | single nucleotide variant | Inborn genetic diseases [RCV001265667] | ChrX:153962297 [GRCh38] ChrX:153227748 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.101A>C (p.His34Pro) | single nucleotide variant | Intellectual disability [RCV001260714] | ChrX:153970740 [GRCh38] ChrX:153236191 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5945G>A (p.Arg1982His) | single nucleotide variant | Neurodevelopmental abnormality [RCV001264675] | ChrX:153950302 [GRCh38] ChrX:153215753 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 | copy number gain | not provided [RCV001260058] | ChrX:153113943..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 | copy number gain | not provided [RCV001260059] | ChrX:153135257..153594096 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 | copy number gain | not provided [RCV001260062] | ChrX:152631130..153240286 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3646A>T (p.Ser1216Cys) | single nucleotide variant | Inborn genetic diseases [RCV001266288] | ChrX:153954753 [GRCh38] ChrX:153220204 [GRCh37] ChrX:Xq28 |
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_005334.3(HCFC1):c.1030C>T (p.Arg344Cys) | single nucleotide variant | Mental retardation 3, X-linked [RCV001262751] | ChrX:153960289 [GRCh38] ChrX:153225740 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) | single nucleotide variant | Mental retardation 3, X-linked [RCV001329391] | ChrX:153954725 [GRCh38] ChrX:153220176 [GRCh37] ChrX:Xq28 |
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_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) | single nucleotide variant | Mental retardation 3, X-linked [RCV001291690] | ChrX:153954669 [GRCh38] ChrX:153220120 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala) | single nucleotide variant | Mental retardation 3, X-linked [RCV001337188] | ChrX:153954608 [GRCh38] ChrX:153220059 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) | single nucleotide variant | Mental retardation 3, X-linked [RCV001329390] | ChrX:153958675 [GRCh38] ChrX:153224126 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser) | single nucleotide variant | Mental retardation 3, X-linked [RCV001327000] | ChrX:153952769 [GRCh38] ChrX:153218220 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg) | single nucleotide variant | Mental retardation 3, X-linked [RCV001320668] | ChrX:153951447 [GRCh38] ChrX:153216898 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.477C>T (p.Ser159=) | single nucleotide variant | Mental retardation 3, X-linked [RCV001347763] | ChrX:153964150 [GRCh38] ChrX:153229601 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu) | single nucleotide variant | Mental retardation 3, X-linked [RCV001345485] | ChrX:153952957 [GRCh38] ChrX:153218408 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) | single nucleotide variant | Mental retardation 3, X-linked [RCV001329392] | ChrX:153954108 [GRCh38] ChrX:153219559 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) | single nucleotide variant | Mental retardation 3, X-linked [RCV001329394] | ChrX:153950818 [GRCh38] ChrX:153216269 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) | single nucleotide variant | Mental retardation 3, X-linked [RCV001291632] | ChrX:153955142 [GRCh38] ChrX:153220593 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) | single nucleotide variant | Mental retardation 3, X-linked [RCV001329393] | ChrX:153952048 [GRCh38] ChrX:153217499 [GRCh37] ChrX:Xq28 |
uncertain significance |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4839 | AgrOrtholog |
COSMIC | HCFC1 | COSMIC |
Ensembl Genes | ENSG00000172534 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000309555 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000359001 | ENTREZGENE, UniProtKB/TrEMBL | |
ENSP00000399589 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000310441 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000369984 | ENTREZGENE, UniProtKB/TrEMBL | |
ENST00000444191 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.120.10.80 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000172534 | GTEx |
HGNC ID | HGNC:4839 | ENTREZGENE |
Human Proteome Map | HCFC1 | Human Proteome Map |
InterPro | FN3_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FN3_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HCF1 | UniProtKB/TrEMBL | |
HCF1/2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HCFC1 | UniProtKB/Swiss-Prot | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kelch-typ_b-propeller | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kelch_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:3054 | UniProtKB/Swiss-Prot |
NCBI Gene | 3054 | ENTREZGENE |
OMIM | 300019 | OMIM |
309541 | OMIM | |
PANTHER | PTHR46003 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR46003:SF3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Kelch_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA29215 | PharmGKB |
PROSITE | FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF117281 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF49265 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A6NEM2 | ENTREZGENE, UniProtKB/TrEMBL |
H7C1C4_HUMAN | UniProtKB/TrEMBL | |
HCFC1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q05C05_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | Q6P4G5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-04-05 | HCFC1 | host cell factor C1 | MRX3 | mental retardation, X-linked 3 | Data Merged | 737654 | PROVISIONAL |
2014-06-17 | HCFC1 | host cell factor C1 | host cell factor C1 (VP16-accessory protein) | Symbol and/or name change | 5135510 | APPROVED | |
2011-08-16 | HCFC1 | host cell factor C1 (VP16-accessory protein) | HCFC1 | host cell factor C1 (VP16-accessory protein) | Symbol and/or name change | 5135510 | APPROVED |