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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3-M syndrome | | IEA | | 13592920 | OMIM:273750 more ... | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3-M syndrome | | IEA | | 13592920 | OMIM:273750 more ... | MouseDO | | |
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1. | OMIM Disease Annotation Pipeline |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | RGD automated import pipeline for gene-chemical interactions |
4. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:8619474 | PMID:8681137 | PMID:9110174 | PMID:9734811 | PMID:12168954 | PMID:12477932 | PMID:14702039 | PMID:15174051 | PMID:15489334 | PMID:17289344 | PMID:18477606 | PMID:19481195 |
PMID:19877176 | PMID:20133654 | PMID:20301654 | PMID:20489725 | PMID:20498229 | PMID:20562859 | PMID:20797700 | PMID:21572988 | PMID:21737058 | PMID:21873635 | PMID:21903422 | PMID:22156540 |
PMID:23018678 | PMID:23443559 | PMID:23455922 | PMID:23602568 | PMID:24711643 | PMID:24778252 | PMID:24793695 | PMID:24989974 | PMID:25277244 | PMID:25476789 | PMID:25609649 | PMID:25752541 |
PMID:25814554 | PMID:26186194 | PMID:26972000 | PMID:27173435 | PMID:27565346 | PMID:27634302 | PMID:27654294 | PMID:27796265 | PMID:27989621 | PMID:28298427 | PMID:28514442 | PMID:28561026 |
PMID:28675297 | PMID:29150431 | PMID:29395067 | PMID:29507117 | PMID:30561431 | PMID:30773093 | PMID:30980518 | PMID:31073040 | PMID:31091453 | PMID:31152661 | PMID:31343991 | PMID:31586073 |
PMID:31753913 | PMID:32877691 |
OBSL1 (Homo sapiens - human) |
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Obsl1 (Mus musculus - house mouse) |
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Obsl1 (Rattus norvegicus - Norway rat) |
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Obsl1 (Chinchilla lanigera - long-tailed chinchilla) |
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OBSL1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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OBSL1 (Canis lupus familiaris - dog) |
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Obsl1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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OBSL1 (Sus scrofa - pig) |
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OBSL1 (Chlorocebus sabaeus - African green monkey) |
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Obsl1 (Heterocephalus glaber - naked mole-rat) |
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RH102755 |
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ECD00922 |
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ECD01686 |
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ECD03433 |
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ECD05192 |
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ECD06449 |
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ECD21655 |
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D10S2362 |
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REN53382 |
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REN53383 |
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REN53384 |
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REN53385 |
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REN53386 |
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REN53387 |
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REN53388 |
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REN53389 |
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REN53390 |
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REN53391 |
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REN53392 |
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REN53393 |
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REN53394 |
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REN53395 |
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REN53396 |
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REN53397 |
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REN53398 |
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REN53399 |
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REN53400 |
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REN53401 |
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REN53402 |
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REN53403 |
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REN53404 |
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REN53405 |
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REN53406 |
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REN53407 |
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REN53408 |
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REN53409 |
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REN53410 |
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REN53415 |
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REN53424 |
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RH11732 |
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stSG633085 |
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stSG633087 |
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stSG633088 |
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stSG633095 |
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stSG633096 |
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stSG633098 |
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stSG633099 |
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stSG633100 |
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stSG633102 |
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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 | 2038 | 2139 | 1513 | 415 | 371 | 260 | 4294 | 2087 | 3142 | 340 | 1413 | 1524 | 165 | 1197 | 2755 | 3 | ||
Low | 340 | 159 | 204 | 202 | 314 | 199 | 61 | 105 | 589 | 77 | 41 | 78 | 8 | 1 | 7 | 33 | 3 | 1 |
Below cutoff | 35 | 680 | 8 | 6 | 995 | 6 | 2 | 3 | 2 | 4 | 8 | 1 |
RefSeq Transcripts | NG_016977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001173408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001173431 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_015311 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011510857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011510863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011510864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011510865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011510866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017003696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017003697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017003698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017003699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017003700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB014557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC009955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF035292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK023854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK025946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC007201 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC061909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CK904385 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB475523 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF063637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF063638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
F30329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000289656 ⟹ ENSP00000289656 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000373873 ⟹ ENSP00000362980 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000373876 ⟹ ENSP00000362983 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000404537 ⟹ ENSP00000385636 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000456147 ⟹ ENSP00000403665 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000462385 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000462534 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000465149 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000465589 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000472388 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000489804 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000491370 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000596474 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000603926 ⟹ ENSP00000474519 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000604031 ⟹ ENSP00000475126 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001173408 ⟹ NP_001166879 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001173431 ⟹ NP_001166902 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_015311 ⟹ NP_056126 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011510857 ⟹ XP_011509159 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011510863 ⟹ XP_011509165 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011510864 ⟹ XP_011509166 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011510865 ⟹ XP_011509167 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011510866 ⟹ XP_011509168 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017003696 ⟹ XP_016859185 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017003697 ⟹ XP_016859186 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017003698 ⟹ XP_016859187 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017003699 ⟹ XP_016859188 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017003700 ⟹ XP_016859189 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
Protein RefSeqs | NP_001166879 | (Get FASTA) | NCBI Sequence Viewer |
NP_001166902 | (Get FASTA) | NCBI Sequence Viewer | |
NP_056126 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011509159 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011509165 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011509166 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011509167 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011509168 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016859185 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016859186 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016859187 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016859188 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016859189 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH07201 | (Get FASTA) | NCBI Sequence Viewer |
AAH61909 | (Get FASTA) | NCBI Sequence Viewer | |
ABO42327 | (Get FASTA) | NCBI Sequence Viewer | |
ABO42328 | (Get FASTA) | NCBI Sequence Viewer | |
BAA31632 | (Get FASTA) | NCBI Sequence Viewer | |
BAB14704 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12981 | (Get FASTA) | NCBI Sequence Viewer | |
O75147 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_056126 ⟸ NM_015311 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | O75147 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001166902 ⟸ NM_001173431 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | O75147 (UniProtKB/Swiss-Prot), Q9H8B3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001166879 ⟸ NM_001173408 |
- Peptide Label: | isoform 3 precursor |
- UniProtKB: | O75147 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011509159 ⟸ XM_011510857 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011509165 ⟸ XM_011510863 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | XP_011509167 ⟸ XM_011510865 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_011509166 ⟸ XM_011510864 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_011509168 ⟸ XM_011510866 |
- Peptide Label: | isoform X9 |
- Sequence: |
RefSeq Acc Id: | XP_016859188 ⟸ XM_017003699 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_016859187 ⟸ XM_017003698 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_016859189 ⟸ XM_017003700 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_016859186 ⟸ XM_017003697 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_016859185 ⟸ XM_017003696 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | ENSP00000362980 ⟸ ENST00000373873 |
RefSeq Acc Id: | ENSP00000362983 ⟸ ENST00000373876 |
RefSeq Acc Id: | ENSP00000403665 ⟸ ENST00000456147 |
RefSeq Acc Id: | ENSP00000385636 ⟸ ENST00000404537 |
RefSeq Acc Id: | ENSP00000474519 ⟸ ENST00000603926 |
RefSeq Acc Id: | ENSP00000289656 ⟸ ENST00000289656 |
RefSeq Acc Id: | ENSP00000475126 ⟸ ENST00000604031 |
RGD ID: | 6862930 | ||||||||
Promoter ID: | EPDNEW_H4630 | ||||||||
Type: | initiation region | ||||||||
Name: | OBSL1_1 | ||||||||
Description: | obscurin like 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6797897 | ||||||||
Promoter ID: | HG_KWN:37388 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000131423, OTTHUMT00000145696 | ||||||||
Position: |
|
RGD ID: | 6797896 | ||||||||
Promoter ID: | HG_KWN:37391 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3 | ||||||||
Transcripts: | OTTHUMT00000131420 | ||||||||
Position: |
|
RGD ID: | 6797899 | ||||||||
Promoter ID: | HG_KWN:37392 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | UC010FWL.1 | ||||||||
Position: |
|
RGD ID: | 6797231 | ||||||||
Promoter ID: | HG_KWN:37394 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3, K562 | ||||||||
Transcripts: | ENST00000265318, ENST00000373876 | ||||||||
Position: |
|
RGD ID: | 6797898 | ||||||||
Promoter ID: | HG_KWN:37395 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3, K562, NB4 | ||||||||
Transcripts: | ENST00000265317, NM_001173408, NM_001173431, NM_015311, OTTHUMT00000131068, OTTHUMT00000131419, OTTHUMT00000131425, OTTHUMT00000316468, UC002VMJ.2 | ||||||||
Position: |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
OBSL1, 1-BP INS, 1273A | insertion | Three M syndrome 2 [RCV000001100] | Chr2:2q35 | pathogenic |
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter) | single nucleotide variant | Three M syndrome 2 [RCV000001101] | Chr2:219568188 [GRCh38] Chr2:220432910 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.1256_1265del (p.Arg419fs) | deletion | Three M syndrome 2 [RCV000001102] | Chr2:219568072..219568081 [GRCh38] Chr2:220432794..220432803 [GRCh37] Chr2:2q35 |
pathogenic |
OBSL1, 1-BP INS, 690C | insertion | Three M syndrome 2 [RCV000001103] | Chr2:2q35 | pathogenic |
NM_015311.3(OBSL1):c.1465C>T (p.Arg489Ter) | single nucleotide variant | Three M syndrome 2 [RCV000001104] | Chr2:219567787 [GRCh38] Chr2:220432509 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.4023C>T (p.Cys1341=) | single nucleotide variant | not provided [RCV000728051] | Chr2:219557386 [GRCh38] Chr2:220422108 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) | single nucleotide variant | Tongue tie [RCV000735349] | Chr2:219559471 [GRCh38] Chr2:220424193 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) | single nucleotide variant | Tongue tie [RCV000735350]|not provided [RCV001270119] | Chr2:219558345 [GRCh38] Chr2:220423067 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 | copy number gain | See cases [RCV000051119] | Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 | copy number loss | See cases [RCV000052634] | Chr2:219081620..225430308 [GRCh38] Chr2:219946342..226295024 [GRCh37] Chr2:219654586..226003268 [NCBI36] Chr2:2q35-36.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 | copy number gain | See cases [RCV000052958] | Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 | copy number gain | See cases [RCV000052959] | Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] | Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] | Chr2:212614422..227121230 [GRCh38] Chr2:213479146..227985946 [GRCh37] Chr2:213187391..227694190 [NCBI36] Chr2:2q34-36.3 |
pathogenic |
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] | Chr2:219547204..228287942 [GRCh38] Chr2:220411926..229152658 [GRCh37] Chr2:220120170..228860902 [NCBI36] Chr2:2q35-36.3 |
pathogenic |
NM_015311.3(OBSL1):c.951C>A (p.Tyr317Ter) | single nucleotide variant | not provided [RCV000171333] | Chr2:219570282 [GRCh38] Chr2:220435004 [GRCh37] Chr2:2q35 |
likely pathogenic |
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) | single nucleotide variant | Three M syndrome 2 [RCV000379523]|not provided [RCV000418261]|not specified [RCV000174131] | Chr2:219557964 [GRCh38] Chr2:220422686 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance |
NM_015311.3(OBSL1):c.5309-4C>G | single nucleotide variant | Three M syndrome 2 [RCV000393467]|not specified [RCV000175465] | Chr2:219552220 [GRCh38] Chr2:220416942 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) | duplication | Three M syndrome 2 [RCV000175869]|not provided [RCV000790703] | Chr2:219568063..219568064 [GRCh38] Chr2:220432785..220432786 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) | single nucleotide variant | Three M syndrome 2 [RCV000317448]|not provided [RCV000892515]|not specified [RCV000179490] | Chr2:219565411 [GRCh38] Chr2:220430133 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance |
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) | single nucleotide variant | Three M syndrome 2 [RCV001138605]|not provided [RCV000890678]|not specified [RCV000180649] | Chr2:219559448 [GRCh38] Chr2:220424170 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.3293G>A (p.Arg1098His) | single nucleotide variant | not provided [RCV000514390] | Chr2:219558393 [GRCh38] Chr2:220423115 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.119C>G (p.Pro40Arg) | single nucleotide variant | not provided [RCV000429518]|not specified [RCV000173447] | Chr2:219571114 [GRCh38] Chr2:220435836 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) | single nucleotide variant | Three M syndrome 2 [RCV000382515]|not specified [RCV000173448] | Chr2:219570312 [GRCh38] Chr2:220435034 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) | single nucleotide variant | Three M syndrome 2 [RCV000371643]|not specified [RCV000173449] | Chr2:219570633 [GRCh38] Chr2:220435355 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.569C>G (p.Ala190Gly) | single nucleotide variant | Three M syndrome 2 [RCV001136666]|not provided [RCV000894720]|not specified [RCV000173450] | Chr2:219570664 [GRCh38] Chr2:220435386 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.75T>G (p.Ser25Arg) | single nucleotide variant | not provided [RCV000173451] | Chr2:219571158 [GRCh38] Chr2:220435880 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3646G>A (p.Gly1216Ser) | single nucleotide variant | not provided [RCV000174132] | Chr2:219557967 [GRCh38] Chr2:220422689 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4376G>A (p.Arg1459Gln) | single nucleotide variant | not provided [RCV000174777] | Chr2:219556253 [GRCh38] Chr2:220420975 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 | copy number gain | See cases [RCV000135934] | Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3 |
pathogenic |
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 | copy number gain | See cases [RCV000138093] | Chr2:219081620..219758878 [GRCh38] Chr2:219946342..220623600 [GRCh37] Chr2:219654586..220331844 [NCBI36] Chr2:2q35 |
uncertain significance |
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 | copy number gain | See cases [RCV000139446] | Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 | copy number gain | See cases [RCV000142307] | Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 | copy number gain | See cases [RCV000143216] | Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3 |
pathogenic |
NM_015311.3(OBSL1):c.5400del (p.Leu1801fs) | deletion | not provided [RCV000175466] | Chr2:219552125 [GRCh38] Chr2:220416847 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) | single nucleotide variant | Three M syndrome 2 [RCV001143129]|not provided [RCV000178302] | Chr2:219567511 [GRCh38] Chr2:220432233 [GRCh37] Chr2:2q35 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015311.3(OBSL1):c.2283G>A (p.Leu761=) | single nucleotide variant | not provided [RCV000179489] | Chr2:219565366 [GRCh38] Chr2:220430088 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2715G>T (p.Lys905Asn) | single nucleotide variant | not provided [RCV000180335] | Chr2:219562640 [GRCh38] Chr2:220427362 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.2(OBSL1):c.1273dupA (p.Thr425Asnfs) | duplication | Three M syndrome 2 [RCV000185570] | Chr2:219568064 [GRCh38] Chr2:220432786 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) | single nucleotide variant | Three M syndrome 2 [RCV000386747]|not provided [RCV000441738] | Chr2:219557459 [GRCh38] Chr2:220422181 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance |
NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=) | single nucleotide variant | Three M syndrome 2 [RCV000261792] | Chr2:219557557 [GRCh38] Chr2:220422279 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=) | single nucleotide variant | Three M syndrome 2 [RCV000388829] | Chr2:219556234 [GRCh38] Chr2:220420956 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.1850G>A (p.Arg617His) | single nucleotide variant | Three M syndrome 2 [RCV000393642] | Chr2:219567114 [GRCh38] Chr2:220431836 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.82G>C (p.Glu28Gln) | single nucleotide variant | Three M syndrome 2 [RCV000403047] | Chr2:219571151 [GRCh38] Chr2:220435873 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) | single nucleotide variant | Three M syndrome 2 [RCV000403205]|not provided [RCV000968453]|not specified [RCV000303610] | Chr2:219552642 [GRCh38] Chr2:220417364 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.4147G>A (p.Val1383Ile) | single nucleotide variant | Three M syndrome 2 [RCV000404825] | Chr2:219556643 [GRCh38] Chr2:220421365 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=) | single nucleotide variant | Three M syndrome 2 [RCV000292232] | Chr2:219567292 [GRCh38] Chr2:220432014 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.1997_2049del (p.Gly666fs) | deletion | not provided [RCV000297340] | Chr2:219566915..219566967 [GRCh38] Chr2:220431637..220431689 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) | single nucleotide variant | Three M syndrome 2 [RCV000294356]|not provided [RCV000948630] | Chr2:219556266 [GRCh38] Chr2:220420988 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) | single nucleotide variant | Three M syndrome 2 [RCV000987037]|not specified [RCV000378784] | Chr2:219552544 [GRCh38] Chr2:220417266 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) | single nucleotide variant | Three M syndrome 2 [RCV000277709]|not provided [RCV000886285]|not specified [RCV000361857] | Chr2:219557404 [GRCh38] Chr2:220422126 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance |
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) | single nucleotide variant | Three M syndrome 2 [RCV000264982]|not provided [RCV000967985]|not specified [RCV000289152] | Chr2:219568092 [GRCh38] Chr2:220432814 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) | single nucleotide variant | Three M syndrome 2 [RCV000271198] | Chr2:219556063 [GRCh38] Chr2:220420785 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.1912G>A (p.Asp638Asn) | single nucleotide variant | Three M syndrome 2 [RCV000380871]|not provided [RCV000903662] | Chr2:219567052 [GRCh38] Chr2:220431774 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.4454G>A (p.Arg1485Gln) | single nucleotide variant | Three M syndrome 2 [RCV000380807] | Chr2:219556175 [GRCh38] Chr2:220420897 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5676G>A (p.Leu1892=) | single nucleotide variant | Three M syndrome 2 [RCV000383505]|not provided [RCV000890032] | Chr2:219551536 [GRCh38] Chr2:220416258 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) | single nucleotide variant | Three M syndrome 2 [RCV000365082] | Chr2:219568235 [GRCh38] Chr2:220432957 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn) | single nucleotide variant | Three M syndrome 2 [RCV000369865] | Chr2:219557385 [GRCh38] Chr2:220422107 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.2690C>T (p.Ser897Leu) | single nucleotide variant | Three M syndrome 2 [RCV000370709] | Chr2:219562665 [GRCh38] Chr2:220427387 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met) | single nucleotide variant | Three M syndrome 2 [RCV000375995] | Chr2:219556505 [GRCh38] Chr2:220421227 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) | single nucleotide variant | Three M syndrome 2 [RCV000279198]|not provided [RCV000224851]|not specified [RCV000286452] | Chr2:219556598 [GRCh38] Chr2:220421320 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) | single nucleotide variant | Three M syndrome 2 [RCV000358435]|not provided [RCV000388807] | Chr2:219556041 [GRCh38] Chr2:220420763 [GRCh37] Chr2:2q35 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) | single nucleotide variant | Three M syndrome 2 [RCV000340548]|not provided [RCV000948633]|not specified [RCV000377676] | Chr2:219558403 [GRCh38] Chr2:220423125 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.3680G>A (p.Arg1227His) | single nucleotide variant | Three M syndrome 2 [RCV000341349] | Chr2:219557933 [GRCh38] Chr2:220422655 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) | single nucleotide variant | Three M syndrome 2 [RCV000341440]|not specified [RCV000352312] | Chr2:219570653 [GRCh38] Chr2:220435375 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.-209C>G | single nucleotide variant | Three M syndrome 2 [RCV000285828] | Chr2:219571441 [GRCh38] Chr2:220436163 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.593C>A (p.Ala198Glu) | single nucleotide variant | Three M syndrome 2 [RCV000279375] | Chr2:219570640 [GRCh38] Chr2:220435362 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=) | single nucleotide variant | Three M syndrome 2 [RCV000282793] | Chr2:219558052 [GRCh38] Chr2:220422774 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys) | single nucleotide variant | Three M syndrome 2 [RCV000268251] | Chr2:219565481 [GRCh38] Chr2:220430203 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.-43del | deletion | Three M syndrome [RCV000273904] | Chr2:219571275 [GRCh38] Chr2:220435997 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.4067-12C>T | single nucleotide variant | Three M syndrome 2 [RCV000269319] | Chr2:219556735 [GRCh38] Chr2:220421457 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.4441G>A (p.Val1481Met) | single nucleotide variant | Three M syndrome 2 [RCV000269952] | Chr2:219556188 [GRCh38] Chr2:220420910 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1075G>A (p.Val359Met) | single nucleotide variant | Three M syndrome 2 [RCV000272768] | Chr2:219568262 [GRCh38] Chr2:220432984 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4778G>A (p.Arg1593His) | single nucleotide variant | Three M syndrome 2 [RCV000267131]|not provided [RCV000881106] | Chr2:219554572 [GRCh38] Chr2:220419294 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.2721T>C (p.Tyr907=) | single nucleotide variant | Three M syndrome 2 [RCV000313745] | Chr2:219562634 [GRCh38] Chr2:220427356 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4877-15C>G | single nucleotide variant | Three M syndrome 2 [RCV000397597] | Chr2:219553701 [GRCh38] Chr2:220418423 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2656G>A (p.Ala886Thr) | single nucleotide variant | Three M syndrome 2 [RCV000299871] | Chr2:219563379 [GRCh38] Chr2:220428101 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.762C>T (p.Thr254=) | single nucleotide variant | Three M syndrome 2 [RCV000333889]|not provided [RCV000905677] | Chr2:219570471 [GRCh38] Chr2:220435193 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.1512C>T (p.Thr504=) | single nucleotide variant | Three M syndrome 2 [RCV000301436]|not provided [RCV000958594] | Chr2:219567740 [GRCh38] Chr2:220432462 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.4181G>A (p.Arg1394His) | single nucleotide variant | Three M syndrome 2 [RCV000336300] | Chr2:219556609 [GRCh38] Chr2:220421331 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2085C>T (p.Val695=) | single nucleotide variant | Three M syndrome 2 [RCV000378080] | Chr2:219566879 [GRCh38] Chr2:220431601 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4941G>T (p.Thr1647=) | single nucleotide variant | Three M syndrome 2 [RCV000337221] | Chr2:219553622 [GRCh38] Chr2:220418344 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4334G>A (p.Arg1445Gln) | single nucleotide variant | Three M syndrome 2 [RCV000337636] | Chr2:219556456 [GRCh38] Chr2:220421178 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2587C>T (p.Arg863Cys) | single nucleotide variant | Three M syndrome 2 [RCV000357097] | Chr2:219563448 [GRCh38] Chr2:220428170 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) | single nucleotide variant | Three M syndrome 2 [RCV000402769] | Chr2:219556695 [GRCh38] Chr2:220421417 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.1887C>T (p.Asp629=) | single nucleotide variant | Three M syndrome 2 [RCV000288775] | Chr2:219567077 [GRCh38] Chr2:220431799 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg) | single nucleotide variant | Three M syndrome 2 [RCV000303609] | Chr2:219554617 [GRCh38] Chr2:220419339 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.3816C>T (p.Pro1272=) | single nucleotide variant | Three M syndrome 2 [RCV000319275] | Chr2:219557593 [GRCh38] Chr2:220422315 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.660G>C (p.Ala220=) | single nucleotide variant | Three M syndrome 2 [RCV000338034]|not provided [RCV000911283] | Chr2:219570573 [GRCh38] Chr2:220435295 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=) | single nucleotide variant | Three M syndrome 2 [RCV000404526] | Chr2:219562625 [GRCh38] Chr2:220427347 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.2077G>T (p.Ala693Ser) | single nucleotide variant | Three M syndrome 2 [RCV000290049] | Chr2:219566887 [GRCh38] Chr2:220431609 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1317C>T (p.Asp439=) | single nucleotide variant | Three M syndrome 2 [RCV000305049] | Chr2:219567935 [GRCh38] Chr2:220432657 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2101G>A (p.Gly701Ser) | single nucleotide variant | Three M syndrome 2 [RCV000321045] | Chr2:219566863 [GRCh38] Chr2:220431585 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys) | single nucleotide variant | Three M syndrome 2 [RCV000339934]|not provided [RCV000948631] | Chr2:219556673 [GRCh38] Chr2:220421395 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.96G>A (p.Lys32=) | single nucleotide variant | Three M syndrome 2 [RCV000340192] | Chr2:219571137 [GRCh38] Chr2:220435859 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.2188A>C (p.Thr730Pro) | single nucleotide variant | Three M syndrome 2 [RCV000360602] | Chr2:219565461 [GRCh38] Chr2:220430183 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1590C>T (p.His530=) | single nucleotide variant | Three M syndrome 2 [RCV000406049] | Chr2:219567520 [GRCh38] Chr2:220432242 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) | single nucleotide variant | Three M syndrome 2 [RCV000362048]|not provided [RCV000893205] | Chr2:219568082 [GRCh38] Chr2:220432804 [GRCh37] Chr2:2q35 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015311.3(OBSL1):c.3242T>C (p.Ile1081Thr) | single nucleotide variant | Three M syndrome 2 [RCV000408256]|not provided [RCV000593081] | Chr2:219558444 [GRCh38] Chr2:220423166 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys) | single nucleotide variant | Three M syndrome 2 [RCV000291489]|not provided [RCV000934149] | Chr2:219562468 [GRCh38] Chr2:220427190 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.1151G>A (p.Arg384His) | single nucleotide variant | Three M syndrome 2 [RCV000322478] | Chr2:219568186 [GRCh38] Chr2:220432908 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.-42del | deletion | Three M syndrome [RCV000362603] | Chr2:219571274 [GRCh38] Chr2:220435996 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.750C>T (p.Cys250=) | single nucleotide variant | Three M syndrome 2 [RCV000386091] | Chr2:219570483 [GRCh38] Chr2:220435205 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=) | single nucleotide variant | Three M syndrome 2 [RCV000308207] | Chr2:219557377 [GRCh38] Chr2:220422099 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.2817G>A (p.Val939=) | single nucleotide variant | Three M syndrome 2 [RCV000344160] | Chr2:219562538 [GRCh38] Chr2:220427260 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1035G>A (p.Arg345=) | single nucleotide variant | Three M syndrome 2 [RCV000325595]|not provided [RCV000917024] | Chr2:219568302 [GRCh38] Chr2:220433024 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.4067-11G>A | single nucleotide variant | Three M syndrome 2 [RCV000366185] | Chr2:219556734 [GRCh38] Chr2:220421456 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.729G>A (p.Pro243=) | single nucleotide variant | Three M syndrome 2 [RCV000294181]|not provided [RCV000982664] | Chr2:219570504 [GRCh38] Chr2:220435226 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance |
NM_015311.3(OBSL1):c.4067-11G>T | single nucleotide variant | Three M syndrome 2 [RCV000309259] | Chr2:219556734 [GRCh38] Chr2:220421456 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.851G>A (p.Arg284His) | single nucleotide variant | Three M syndrome 2 [RCV000295250]|not provided [RCV000899815] | Chr2:219570382 [GRCh38] Chr2:220435104 [GRCh37] Chr2:2q35 |
benign|likely benign|uncertain significance |
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=) | single nucleotide variant | Three M syndrome 2 [RCV000328631] | Chr2:219566909 [GRCh38] Chr2:220431631 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn) | single nucleotide variant | Three M syndrome 2 [RCV000328536]|not provided [RCV000909499] | Chr2:219556152 [GRCh38] Chr2:220420874 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.*102_*103insTA | insertion | Three M syndrome [RCV000328972] | Chr2:219550732..219550733 [GRCh38] Chr2:220415454..220415455 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu) | single nucleotide variant | Three M syndrome 2 [RCV000330461]|not provided [RCV000997681] | Chr2:219557404 [GRCh38] Chr2:220422126 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.-42T>C | single nucleotide variant | Three M syndrome 2 [RCV000370819] | Chr2:219571274 [GRCh38] Chr2:220435996 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) | single nucleotide variant | Three M syndrome 2 [RCV000371580] | Chr2:219557861 [GRCh38] Chr2:220422583 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) | single nucleotide variant | Three M syndrome 2 [RCV000395194] | Chr2:219562673 [GRCh38] Chr2:220427395 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) | single nucleotide variant | Three M syndrome 2 [RCV000297604] | Chr2:219554514 [GRCh38] Chr2:220419236 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.-51A>C | single nucleotide variant | Three M syndrome 2 [RCV000331225] | Chr2:219571283 [GRCh38] Chr2:220436005 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4440C>T (p.Ala1480=) | single nucleotide variant | Three M syndrome 2 [RCV000331924] | Chr2:219556189 [GRCh38] Chr2:220420911 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) | single nucleotide variant | Three M syndrome 2 [RCV000350654] | Chr2:219567080 [GRCh38] Chr2:220431802 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.-208G>C | single nucleotide variant | Three M syndrome 2 [RCV000373276] | Chr2:219571440 [GRCh38] Chr2:220436162 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.-43_-42del | deletion | Three M syndrome [RCV000270175] | Chr2:219571274..219571275 [GRCh38] Chr2:220435996..220435997 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.380C>T (p.Ala127Val) | single nucleotide variant | not provided [RCV000373867] | Chr2:219570853 [GRCh38] Chr2:220435575 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2261A>G (p.Gln754Arg) | single nucleotide variant | Three M syndrome 2 [RCV000259911] | Chr2:219565388 [GRCh38] Chr2:220430110 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=) | single nucleotide variant | not provided [RCV000345954] | Chr2:219556668 [GRCh38] Chr2:220421390 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.-43dup | duplication | Three M syndrome [RCV000313540] | Chr2:219571274..219571275 [GRCh38] Chr2:220435996..220435997 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2424C>A (p.Ile808=) | single nucleotide variant | not provided [RCV000281074] | Chr2:219563611 [GRCh38] Chr2:220428333 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1954del (p.Glu652fs) | deletion | not provided [RCV000332884] | Chr2:219567010 [GRCh38] Chr2:220431732 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.397G>C (p.Gly133Arg) | single nucleotide variant | Three M syndrome 2 [RCV001136668]|not provided [RCV000386544] | Chr2:219570836 [GRCh38] Chr2:220435558 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) | single nucleotide variant | not provided [RCV000879949]|not specified [RCV000386843] | Chr2:219570810 [GRCh38] Chr2:220435532 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.1283-9G>A | single nucleotide variant | not provided [RCV000388984] | Chr2:219567978 [GRCh38] Chr2:220432700 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.-165G>C | single nucleotide variant | Three M syndrome 2 [RCV000263382] | Chr2:219571397 [GRCh38] Chr2:220436119 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg) | single nucleotide variant | Three M syndrome 2 [RCV000765612]|not provided [RCV000354453] | Chr2:219557472 [GRCh38] Chr2:220422194 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1318G>A (p.Val440Ile) | single nucleotide variant | not provided [RCV000259856] | Chr2:219567934 [GRCh38] Chr2:220432656 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1775T>A (p.Ile592Asn) | single nucleotide variant | not provided [RCV000327347] | Chr2:219567335 [GRCh38] Chr2:220432057 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.342C>T (p.Ala114=) | single nucleotide variant | not provided [RCV000262485] | Chr2:219570891 [GRCh38] Chr2:220435613 [GRCh37] Chr2:2q35 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_015311.3(OBSL1):c.3962G>T (p.Gly1321Val) | single nucleotide variant | not provided [RCV000297947] | Chr2:219557447 [GRCh38] Chr2:220422169 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3684A>G (p.Arg1228=) | single nucleotide variant | Three M syndrome 2 [RCV000279293] | Chr2:219557929 [GRCh38] Chr2:220422651 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3159C>T (p.Pro1053=) | single nucleotide variant | Three M syndrome 2 [RCV001138602]|not provided [RCV000948634]|not specified [RCV000267892] | Chr2:219559292 [GRCh38] Chr2:220424014 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.1215C>T (p.Asp405=) | single nucleotide variant | not provided [RCV000301325] | Chr2:219568122 [GRCh38] Chr2:220432844 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2135-7CA[2] | microsatellite | Three M syndrome 2 [RCV000490329]|not provided [RCV000913252] | Chr2:219565516..219565517 [GRCh38] Chr2:220430238..220430239 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_015311.3(OBSL1):c.4829C>A (p.Ser1610Tyr) | single nucleotide variant | Three M syndrome 2 [RCV000361808] | Chr2:219554521 [GRCh38] Chr2:220419243 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.-190C>T | single nucleotide variant | Three M syndrome 2 [RCV000316189] | Chr2:219571422 [GRCh38] Chr2:220436144 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.557A>G (p.Asp186Gly) | single nucleotide variant | Three M syndrome 2 [RCV000403859] | Chr2:219570676 [GRCh38] Chr2:220435398 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4128T>C (p.Asp1376=) | single nucleotide variant | Three M syndrome 2 [RCV000306133] | Chr2:219556662 [GRCh38] Chr2:220421384 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1787G>A (p.Ser596Asn) | single nucleotide variant | Three M syndrome 2 [RCV000349473] | Chr2:219567323 [GRCh38] Chr2:220432045 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5270C>T (p.Pro1757Leu) | single nucleotide variant | Three M syndrome 2 [RCV000350103] | Chr2:219552574 [GRCh38] Chr2:220417296 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1390G>T (p.Asp464Tyr) | single nucleotide variant | Three M syndrome 2 [RCV000405004] | Chr2:219567862 [GRCh38] Chr2:220432584 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1404G>A (p.Leu468=) | single nucleotide variant | Three M syndrome 2 [RCV000353990] | Chr2:219567848 [GRCh38] Chr2:220432570 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.56G>A (p.Arg19Gln) | single nucleotide variant | Three M syndrome 2 [RCV000310180] | Chr2:219571177 [GRCh38] Chr2:220435899 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.-97A>G | single nucleotide variant | Three M syndrome 2 [RCV000374212] | Chr2:219571329 [GRCh38] Chr2:220436051 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5657G>A (p.Ser1886Asn) | single nucleotide variant | Three M syndrome 2 [RCV000288877] | Chr2:219551555 [GRCh38] Chr2:220416277 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5101G>A (p.Ala1701Thr) | single nucleotide variant | Three M syndrome 2 [RCV000300963] | Chr2:219552913 [GRCh38] Chr2:220417635 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.189C>G (p.Asp63Glu) | single nucleotide variant | Three M syndrome 2 [RCV000301544] | Chr2:219571044 [GRCh38] Chr2:220435766 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5400A>T (p.Leu1800=) | single nucleotide variant | Three M syndrome 2 [RCV000343906] | Chr2:219552125 [GRCh38] Chr2:220416847 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1151G>C (p.Arg384Pro) | single nucleotide variant | Three M syndrome 2 [RCV001138809] | Chr2:219568186 [GRCh38] Chr2:220432908 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.268G>A (p.Ala90Thr) | single nucleotide variant | Three M syndrome 2 [RCV001138905] | Chr2:219570965 [GRCh38] Chr2:220435687 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4609+12G>A | single nucleotide variant | Three M syndrome 2 [RCV001138383] | Chr2:219556008 [GRCh38] Chr2:220420730 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.903C>T (p.Gly301=) | single nucleotide variant | not provided [RCV000900973]|not specified [RCV000598395] | Chr2:219570330 [GRCh38] Chr2:220435052 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.3127C>T (p.Arg1043Cys) | single nucleotide variant | Three M syndrome 2 [RCV001138603] | Chr2:219559324 [GRCh38] Chr2:220424046 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2977C>T (p.Pro993Ser) | single nucleotide variant | Three M syndrome 2 [RCV001138607] | Chr2:219559474 [GRCh38] Chr2:220424196 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1500C>G (p.Gly500=) | single nucleotide variant | not provided [RCV000591065] | Chr2:219567752 [GRCh38] Chr2:220432474 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2315G>A (p.Arg772His) | single nucleotide variant | not provided [RCV000591130] | Chr2:219565334 [GRCh38] Chr2:220430056 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 | copy number loss | not provided [RCV000585275] | Chr2:217374144..227643620 [GRCh37] Chr2:2q35-36.3 |
likely pathogenic |
NM_015311.3(OBSL1):c.500C>T (p.Ala167Val) | single nucleotide variant | not provided [RCV000591277] | Chr2:219570733 [GRCh38] Chr2:220435455 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2103C>T (p.Gly701=) | single nucleotide variant | Three M syndrome 2 [RCV001138700] | Chr2:219566861 [GRCh38] Chr2:220431583 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=) | single nucleotide variant | not provided [RCV000592126] | Chr2:219563569 [GRCh38] Chr2:220428291 [GRCh37] Chr2:2q35 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_015311.3(OBSL1):c.751G>T (p.Ala251Ser) | single nucleotide variant | not provided [RCV000900988]|not specified [RCV000592105] | Chr2:219570482 [GRCh38] Chr2:220435204 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.2681-7C>T | single nucleotide variant | not provided [RCV000733027] | Chr2:219562681 [GRCh38] Chr2:220427403 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=) | single nucleotide variant | not provided [RCV000730047] | Chr2:219554538 [GRCh38] Chr2:220419260 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2474del (p.Val825fs) | deletion | Three M syndrome 2 [RCV000415144] | Chr2:219563561 [GRCh38] Chr2:220428283 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) | single nucleotide variant | Three M syndrome 2 [RCV000415461] | Chr2:219557454 [GRCh38] Chr2:220422176 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.2789G>A (p.Arg930His) | single nucleotide variant | not provided [RCV000728898] | Chr2:219562566 [GRCh38] Chr2:220427288 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3128G>A (p.Arg1043His) | single nucleotide variant | not provided [RCV000733953] | Chr2:219559323 [GRCh38] Chr2:220424045 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) | single nucleotide variant | Three M syndrome 2 [RCV001136669]|not provided [RCV000733954] | Chr2:219570858 [GRCh38] Chr2:220435580 [GRCh37] Chr2:2q35 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) | single nucleotide variant | Three M syndrome 2 [RCV001140965]|not provided [RCV000952832]|not specified [RCV000729038] | Chr2:219556268 [GRCh38] Chr2:220420990 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.993C>A (p.Ala331=) | single nucleotide variant | not provided [RCV000729039] | Chr2:219570240 [GRCh38] Chr2:220434962 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2056G>A (p.Val686Ile) | single nucleotide variant | not provided [RCV000733435] | Chr2:219566908 [GRCh38] Chr2:220431630 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1307G>A (p.Arg436Gln) | single nucleotide variant | not provided [RCV000594900] | Chr2:219567945 [GRCh38] Chr2:220432667 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 | copy number gain | See cases [RCV000448049] | Chr2:219966808..237815985 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser) | single nucleotide variant | Three M syndrome 2 [RCV001138066]|not provided [RCV000482025] | Chr2:219556721 [GRCh38] Chr2:220421443 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_015311.3(OBSL1):c.2032C>T (p.Gln678Ter) | single nucleotide variant | not provided [RCV000494006] | Chr2:219566932 [GRCh38] Chr2:220431654 [GRCh37] Chr2:2q35 |
pathogenic |
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 | copy number gain | See cases [RCV000512009] | Chr2:213518431..242783384 [GRCh37] Chr2:2q34-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_015311.3(OBSL1):c.4445G>A (p.Arg1482His) | single nucleotide variant | not provided [RCV000595654] | Chr2:219556184 [GRCh38] Chr2:220420906 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.690dup (p.Glu231fs) | duplication | Short stature [RCV000626927]|Three M syndrome 2 [RCV000001103] | Chr2:219570542..219570543 [GRCh38] Chr2:220435264..220435265 [GRCh37] Chr2:2q35 |
pathogenic|likely pathogenic |
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) | single nucleotide variant | Three M syndrome 2 [RCV001138381]|not provided [RCV000595636] | Chr2:219554618 [GRCh38] Chr2:220419340 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 | copy number gain | not provided [RCV000682170] | Chr2:219225872..242016876 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 | copy number loss | not provided [RCV000682163] | Chr2:218813434..227450699 [GRCh37] Chr2:2q35-36.3 |
pathogenic |
Single allele | deletion | Polydactyly [RCV000736029] | Chr2:219925666..220914504 [GRCh37] Chr2:2q35 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_015311.3(OBSL1):c.457_458delinsT (p.Gly153fs) | indel | Three M syndrome 2 [RCV000754639] | Chr2:219570775..219570776 [GRCh38] Chr2:220435497..220435498 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.1074C>T (p.Ala358=) | single nucleotide variant | not provided [RCV000918791] | Chr2:219568263 [GRCh38] Chr2:220432985 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.4396G>A (p.Val1466Met) | single nucleotide variant | not provided [RCV000762323] | Chr2:219556233 [GRCh38] Chr2:220420955 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1474G>A (p.Ala492Thr) | single nucleotide variant | not provided [RCV000762324] | Chr2:219567778 [GRCh38] Chr2:220432500 [GRCh37] Chr2:2q35 |
uncertain significance |
Single allele | duplication | Neurodevelopmental disorder [RCV000787403] | Chr2:188926928..225298653 [GRCh37] Chr2:2q32.1-36.2 |
pathogenic |
NM_015311.3(OBSL1):c.2190C>G (p.Thr730=) | single nucleotide variant | not provided [RCV000972695] | Chr2:219565459 [GRCh38] Chr2:220430181 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.2541G>A (p.Val847=) | single nucleotide variant | not provided [RCV000902732] | Chr2:219563494 [GRCh38] Chr2:220428216 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.3323C>G (p.Ala1108Gly) | single nucleotide variant | not provided [RCV000921296] | Chr2:219558363 [GRCh38] Chr2:220423085 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.1158C>T (p.Tyr386=) | single nucleotide variant | Three M syndrome 2 [RCV001138808]|not provided [RCV000925639] | Chr2:219568179 [GRCh38] Chr2:220432901 [GRCh37] Chr2:2q35 |
benign|uncertain significance |
NM_015311.3(OBSL1):c.3604G>A (p.Ala1202Thr) | single nucleotide variant | Three M syndrome 2 [RCV001142909]|not provided [RCV000904989] | Chr2:219558009 [GRCh38] Chr2:220422731 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.5414-10C>T | single nucleotide variant | not provided [RCV000923020] | Chr2:219551808 [GRCh38] Chr2:220416530 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.822G>A (p.Glu274=) | single nucleotide variant | not provided [RCV000903402] | Chr2:219570411 [GRCh38] Chr2:220435133 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.3444C>T (p.Ala1148=) | single nucleotide variant | Three M syndrome 2 [RCV001142912]|not provided [RCV000905718] | Chr2:219558242 [GRCh38] Chr2:220422964 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.3753C>T (p.Pro1251=) | single nucleotide variant | not provided [RCV000900972] | Chr2:219557860 [GRCh38] Chr2:220422582 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.2012G>A (p.Arg671His) | single nucleotide variant | Three M syndrome 2 [RCV001138701]|not provided [RCV000899764] | Chr2:219566952 [GRCh38] Chr2:220431674 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.4610-7C>T | single nucleotide variant | not provided [RCV000982713] | Chr2:219554747 [GRCh38] Chr2:220419469 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.3399G>A (p.Gly1133=) | single nucleotide variant | Three M syndrome 2 [RCV001138172]|not provided [RCV000948632] | Chr2:219558287 [GRCh38] Chr2:220423009 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.1971C>T (p.Asn657=) | single nucleotide variant | not provided [RCV000915420] | Chr2:219566993 [GRCh38] Chr2:220431715 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.3595C>T (p.Arg1199Trp) | single nucleotide variant | not provided [RCV000959842] | Chr2:219558018 [GRCh38] Chr2:220422740 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.2600C>A (p.Pro867His) | single nucleotide variant | not provided [RCV000924285] | Chr2:219563435 [GRCh38] Chr2:220428157 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.2619C>T (p.Asp873=) | single nucleotide variant | Three M syndrome 2 [RCV001143018]|not provided [RCV000903013] | Chr2:219563416 [GRCh38] Chr2:220428138 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.4092G>A (p.Ser1364=) | single nucleotide variant | not provided [RCV000924373] | Chr2:219556698 [GRCh38] Chr2:220421420 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=) | single nucleotide variant | Three M syndrome 2 [RCV001138173]|not provided [RCV000893587] | Chr2:219558296 [GRCh38] Chr2:220423018 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.2981G>A (p.Arg994His) | single nucleotide variant | Three M syndrome 2 [RCV001138606]|not provided [RCV000904830] | Chr2:219559470 [GRCh38] Chr2:220424192 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.831C>A (p.Ile277=) | single nucleotide variant | not provided [RCV000922337] | Chr2:219570402 [GRCh38] Chr2:220435124 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.4448G>A (p.Trp1483Ter) | single nucleotide variant | Three M syndrome 2 [RCV000779309] | Chr2:219556181 [GRCh38] Chr2:220420903 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2826dup (p.Ala943fs) | duplication | Three M syndrome 2 [RCV000779310] | Chr2:219562528..219562529 [GRCh38] Chr2:220427250..220427251 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1277_1282+5del | deletion | Three M syndrome 1 [RCV000778117] | Chr2:219568050..219568060 [GRCh38] Chr2:220432772..220432782 [GRCh37] Chr2:2q35 |
likely pathogenic |
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His) | single nucleotide variant | Three M syndrome 1 [RCV000778118] | Chr2:219568150 [GRCh38] Chr2:220432872 [GRCh37] Chr2:2q35 |
likely pathogenic |
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter) | duplication | Three M syndrome 1 [RCV000778119] | Chr2:219568211..219568212 [GRCh38] Chr2:220432933..220432934 [GRCh37] Chr2:2q35 |
likely pathogenic |
NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys) | single nucleotide variant | Three M syndrome 2 [RCV001138175]|not provided [RCV000898225] | Chr2:219558382 [GRCh38] Chr2:220423104 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.4870G>C (p.Val1624Leu) | single nucleotide variant | not provided [RCV000922433] | Chr2:219554480 [GRCh38] Chr2:220419202 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.3082G>C (p.Glu1028Gln) | single nucleotide variant | not provided [RCV000888457] | Chr2:219559369 [GRCh38] Chr2:220424091 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.2637C>T (p.Cys879=) | single nucleotide variant | not provided [RCV000940516] | Chr2:219563398 [GRCh38] Chr2:220428120 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.546C>T (p.Gly182=) | single nucleotide variant | not provided [RCV000953343] | Chr2:219570687 [GRCh38] Chr2:220435409 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.5147-14_5147-3dup | duplication | not provided [RCV000932232] | Chr2:219552699..219552700 [GRCh38] Chr2:220417421..220417422 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.705G>T (p.Ala235=) | single nucleotide variant | not provided [RCV000895492] | Chr2:219570528 [GRCh38] Chr2:220435250 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.5684-4G>A | single nucleotide variant | not provided [RCV000941501] | Chr2:219550846 [GRCh38] Chr2:220415568 [GRCh37] Chr2:2q35 |
likely benign |
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 | copy number gain | See cases [RCV000790568] | Chr2:210779657..239879183 [GRCh37] Chr2:2q34-37.3 |
pathogenic |
NM_015311.3(OBSL1):c.2826C>T (p.Pro942=) | single nucleotide variant | not provided [RCV000893528] | Chr2:219562529 [GRCh38] Chr2:220427251 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.3415A>C (p.Thr1139Pro) | single nucleotide variant | Three M syndrome 2 [RCV001138171] | Chr2:219558271 [GRCh38] Chr2:220422993 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=) | single nucleotide variant | Three M syndrome 2 [RCV001138174] | Chr2:219558331 [GRCh38] Chr2:220423053 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1311G>T (p.Lys437Asn) | single nucleotide variant | Three M syndrome 2 [RCV001136564] | Chr2:219567941 [GRCh38] Chr2:220432663 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1534+5G>C | single nucleotide variant | Three M syndrome 2 [RCV000987038] | Chr2:219567713 [GRCh38] Chr2:220432435 [GRCh37] Chr2:2q35 |
likely pathogenic |
NM_015311.3(OBSL1):c.367T>C (p.Ser123Pro) | single nucleotide variant | Three M syndrome 2 [RCV001136670] | Chr2:219570866 [GRCh38] Chr2:220435588 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met) | single nucleotide variant | Three M syndrome 2 [RCV001138065] | Chr2:219556657 [GRCh38] Chr2:220421379 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1737C>T (p.Gly579=) | single nucleotide variant | not provided [RCV000916938] | Chr2:219567373 [GRCh38] Chr2:220432095 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.463C>T (p.Pro155Ser) | single nucleotide variant | Three M syndrome 2 [RCV001136667] | Chr2:219570770 [GRCh38] Chr2:220435492 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2896G>A (p.Gly966Ser) | single nucleotide variant | Three M syndrome 2 [RCV001138608] | Chr2:219562459 [GRCh38] Chr2:220427181 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1966A>G (p.Ser656Gly) | single nucleotide variant | Three M syndrome 2 [RCV001138702] | Chr2:219566998 [GRCh38] Chr2:220431720 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.202G>A (p.Gly68Ser) | single nucleotide variant | Three M syndrome 2 [RCV001138906] | Chr2:219571031 [GRCh38] Chr2:220435753 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4018C>T (p.Leu1340=) | single nucleotide variant | Three M syndrome 2 [RCV001138492] | Chr2:219557391 [GRCh38] Chr2:220422113 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1237G>A (p.Glu413Lys) | single nucleotide variant | Three M syndrome 2 [RCV001138804] | Chr2:219568100 [GRCh38] Chr2:220432822 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1228T>C (p.Tyr410His) | single nucleotide variant | Three M syndrome 2 [RCV001138805] | Chr2:219568109 [GRCh38] Chr2:220432831 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1167C>T (p.Ile389=) | single nucleotide variant | Three M syndrome 2 [RCV001138807] | Chr2:219568170 [GRCh38] Chr2:220432892 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.142G>A (p.Gly48Ser) | single nucleotide variant | Three M syndrome 2 [RCV001138907] | Chr2:219571091 [GRCh38] Chr2:220435813 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3236A>T (p.Glu1079Val) | single nucleotide variant | not provided [RCV000997684] | Chr2:219558450 [GRCh38] Chr2:220423172 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3402del (p.Thr1135fs) | deletion | not provided [RCV000997683] | Chr2:219558284 [GRCh38] Chr2:220423006 [GRCh37] Chr2:2q35 |
likely pathogenic |
NM_015311.3(OBSL1):c.3067T>C (p.Tyr1023His) | single nucleotide variant | not provided [RCV000997685] | Chr2:219559384 [GRCh38] Chr2:220424106 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1424G>A (p.Ser475Asn) | single nucleotide variant | not provided [RCV000997686] | Chr2:219567828 [GRCh38] Chr2:220432550 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3682C>G (p.Arg1228Gly) | single nucleotide variant | Three M syndrome 2 [RCV001142908] | Chr2:219557931 [GRCh38] Chr2:220422653 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5308+12T>G | single nucleotide variant | Three M syndrome 2 [RCV001140859] | Chr2:219552524 [GRCh38] Chr2:220417246 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln) | single nucleotide variant | Three M syndrome 2 [RCV001141055] | Chr2:219557570 [GRCh38] Chr2:220422292 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.4950C>T (p.Cys1650=) | single nucleotide variant | Three M syndrome 2 [RCV001137964] | Chr2:219553613 [GRCh38] Chr2:220418335 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1365C>T (p.Ala455=) | single nucleotide variant | not provided [RCV000907797] | Chr2:219567887 [GRCh38] Chr2:220432609 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.5210C>A (p.Thr1737Lys) | single nucleotide variant | Three M syndrome 2 [RCV001142708]|not provided [RCV000910006] | Chr2:219552634 [GRCh38] Chr2:220417356 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.2697C>T (p.Ile899=) | single nucleotide variant | not provided [RCV000908549] | Chr2:219562658 [GRCh38] Chr2:220427380 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.3309T>C (p.Cys1103=) | single nucleotide variant | not provided [RCV000907378] | Chr2:219558377 [GRCh38] Chr2:220423099 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.1734G>A (p.Pro578=) | single nucleotide variant | Three M syndrome 2 [RCV001143125]|not provided [RCV000888276] | Chr2:219567376 [GRCh38] Chr2:220432098 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_015311.3(OBSL1):c.2595G>A (p.Val865=) | single nucleotide variant | not provided [RCV000916940] | Chr2:219563440 [GRCh38] Chr2:220428162 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.4990-6C>T | single nucleotide variant | not provided [RCV000923596] | Chr2:219553030 [GRCh38] Chr2:220417752 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.5229G>T (p.Ser1743=) | single nucleotide variant | Three M syndrome 2 [RCV001142707]|not provided [RCV000932780] | Chr2:219552615 [GRCh38] Chr2:220417337 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.2823C>T (p.Ser941=) | single nucleotide variant | not provided [RCV000955303] | Chr2:219562532 [GRCh38] Chr2:220427254 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.1999G>A (p.Ala667Thr) | single nucleotide variant | not provided [RCV000955304] | Chr2:219566965 [GRCh38] Chr2:220431687 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.2408-8C>T | single nucleotide variant | not provided [RCV000974949] | Chr2:219563635 [GRCh38] Chr2:220428357 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) | single nucleotide variant | not provided [RCV000904433] | Chr2:219553612 [GRCh38] Chr2:220418334 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.2954-8C>T | single nucleotide variant | not provided [RCV000889010] | Chr2:219559505 [GRCh38] Chr2:220424227 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=) | single nucleotide variant | Three M syndrome 2 [RCV001142704]|not provided [RCV000886436] | Chr2:219552564 [GRCh38] Chr2:220417286 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.3678C>T (p.Pro1226=) | single nucleotide variant | not provided [RCV000920747] | Chr2:219557935 [GRCh38] Chr2:220422657 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.5245G>A (p.Gly1749Arg) | single nucleotide variant | Three M syndrome 2 [RCV001142705] | Chr2:219552599 [GRCh38] Chr2:220417321 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3575T>C (p.Val1192Ala) | single nucleotide variant | Three M syndrome 2 [RCV001142911] | Chr2:219558038 [GRCh38] Chr2:220422760 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.765C>T (p.Phe255=) | single nucleotide variant | Three M syndrome 2 [RCV001143239] | Chr2:219570468 [GRCh38] Chr2:220435190 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.183G>A (p.Pro61=) | single nucleotide variant | not provided [RCV000891345] | Chr2:219571050 [GRCh38] Chr2:220435772 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser) | single nucleotide variant | Three M syndrome 2 [RCV001141054]|not provided [RCV000997682] | Chr2:219557559 [GRCh38] Chr2:220422281 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.2394C>T (p.Gly798=) | single nucleotide variant | not provided [RCV000913859] | Chr2:219565255 [GRCh38] Chr2:220429977 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.1722C>T (p.Ala574=) | single nucleotide variant | Three M syndrome 2 [RCV001143127]|not provided [RCV000912737] | Chr2:219567388 [GRCh38] Chr2:220432110 [GRCh37] Chr2:2q35 |
likely benign|uncertain significance |
NM_015311.3(OBSL1):c.4610-10C>T | single nucleotide variant | not provided [RCV000935480] | Chr2:219554750 [GRCh38] Chr2:220419472 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) | single nucleotide variant | Three M syndrome 2 [RCV001143019]|not provided [RCV000890762] | Chr2:219563457 [GRCh38] Chr2:220428179 [GRCh37] Chr2:2q35 |
benign |
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) | single nucleotide variant | Three M syndrome 2 [RCV001143020]|not provided [RCV000890763] | Chr2:219563458 [GRCh38] Chr2:220428180 [GRCh37] Chr2:2q35 |
benign |
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 | copy number gain | not provided [RCV001007510] | Chr2:216883237..220953003 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.-35C>A | single nucleotide variant | Three M syndrome 2 [RCV001141505] | Chr2:219571267 [GRCh38] Chr2:220435989 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.-51A>T | single nucleotide variant | Three M syndrome 2 [RCV001141506] | Chr2:219571283 [GRCh38] Chr2:220436005 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1443C>G (p.Ala481=) | single nucleotide variant | Three M syndrome 2 [RCV001143130] | Chr2:219567809 [GRCh38] Chr2:220432531 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4152C>T (p.Ser1384=) | single nucleotide variant | Three M syndrome 2 [RCV001142812] | Chr2:219556638 [GRCh38] Chr2:220421360 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1733C>T (p.Pro578Leu) | single nucleotide variant | Three M syndrome 2 [RCV001143126] | Chr2:219567377 [GRCh38] Chr2:220432099 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5243C>T (p.Thr1748Met) | single nucleotide variant | Three M syndrome 2 [RCV001142706] | Chr2:219552601 [GRCh38] Chr2:220417323 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2638G>A (p.Val880Ile) | single nucleotide variant | Three M syndrome 2 [RCV001143017] | Chr2:219563397 [GRCh38] Chr2:220428119 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2498G>A (p.Arg833Gln) | single nucleotide variant | Three M syndrome 2 [RCV001143021] | Chr2:219563537 [GRCh38] Chr2:220428259 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1298G>A (p.Arg433His) | single nucleotide variant | Three M syndrome 2 [RCV001136565] | Chr2:219567954 [GRCh38] Chr2:220432676 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.46C>A (p.Arg16Ser) | single nucleotide variant | Three M syndrome 2 [RCV001138908] | Chr2:219571187 [GRCh38] Chr2:220435909 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs) | duplication | not provided [RCV001061983] | Chr2:219556093..219556094 [GRCh38] Chr2:220420815..220420816 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2392G>A (p.Gly798Ser) | single nucleotide variant | Three M syndrome 2 [RCV001138279] | Chr2:219565257 [GRCh38] Chr2:220429979 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2706C>T (p.Pro902=) | single nucleotide variant | Three M syndrome 2 [RCV001141179] | Chr2:219562649 [GRCh38] Chr2:220427371 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1911C>G (p.Leu637=) | single nucleotide variant | Three M syndrome 2 [RCV001141277] | Chr2:219567053 [GRCh38] Chr2:220431775 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1077G>A (p.Val359=) | single nucleotide variant | Three M syndrome 2 [RCV001141388] | Chr2:219568260 [GRCh38] Chr2:220432982 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5593C>T (p.Leu1865=) | single nucleotide variant | Three M syndrome 2 [RCV001140857] | Chr2:219551619 [GRCh38] Chr2:220416341 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2858G>A (p.Arg953His) | single nucleotide variant | Three M syndrome 2 [RCV001141176] | Chr2:219562497 [GRCh38] Chr2:220427219 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1136G>A (p.Arg379Gln) | single nucleotide variant | Three M syndrome 2 [RCV001141387] | Chr2:219568201 [GRCh38] Chr2:220432923 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5487G>A (p.Glu1829=) | single nucleotide variant | Three M syndrome 2 [RCV001140858] | Chr2:219551725 [GRCh38] Chr2:220416447 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.-59C>T | single nucleotide variant | Three M syndrome 2 [RCV001141507] | Chr2:219571291 [GRCh38] Chr2:220436013 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2731G>A (p.Val911Met) | single nucleotide variant | Three M syndrome 2 [RCV001141178] | Chr2:219562624 [GRCh38] Chr2:220427346 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1195A>G (p.Ile399Val) | single nucleotide variant | Three M syndrome 2 [RCV001138806] | Chr2:219568142 [GRCh38] Chr2:220432864 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.848del (p.Gly283fs) | deletion | Three M syndrome 2 [RCV001089805] | Chr2:219570385 [GRCh38] Chr2:220435107 [GRCh37] Chr2:2q35 |
pathogenic |
NM_015311.3(OBSL1):c.4610-6G>A | single nucleotide variant | Three M syndrome 2 [RCV001138382] | Chr2:219554746 [GRCh38] Chr2:220419468 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4484G>A (p.Arg1495His) | single nucleotide variant | Three M syndrome 2 [RCV001138384] | Chr2:219556145 [GRCh38] Chr2:220420867 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln) | single nucleotide variant | Three M syndrome 2 [RCV001138493] | Chr2:219557429 [GRCh38] Chr2:220422151 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3078G>C (p.Gly1026=) | single nucleotide variant | Three M syndrome 2 [RCV001138604] | Chr2:219559373 [GRCh38] Chr2:220424095 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2104G>A (p.Val702Met) | single nucleotide variant | Three M syndrome 2 [RCV001138699] | Chr2:219566860 [GRCh38] Chr2:220431582 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1268A>G (p.Asn423Ser) | single nucleotide variant | Three M syndrome 2 [RCV001136567] | Chr2:219568069 [GRCh38] Chr2:220432791 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.-12T>C | single nucleotide variant | Three M syndrome 2 [RCV001141503] | Chr2:219571244 [GRCh38] Chr2:220435966 [GRCh37] Chr2:2q35 |
likely benign |
NM_015311.3(OBSL1):c.-21T>C | single nucleotide variant | Three M syndrome 2 [RCV001141504] | Chr2:219571253 [GRCh38] Chr2:220435975 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.5515G>T (p.Val1839Leu) | single nucleotide variant | not provided [RCV001043079] | Chr2:219551697 [GRCh38] Chr2:220416419 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His) | single nucleotide variant | Three M syndrome 2 [RCV001137965] | Chr2:219554500 [GRCh38] Chr2:220419222 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3275A>G (p.His1092Arg) | single nucleotide variant | Three M syndrome 2 [RCV001138176] | Chr2:219558411 [GRCh38] Chr2:220423133 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2407+11A>G | single nucleotide variant | Three M syndrome 2 [RCV001138278] | Chr2:219565231 [GRCh38] Chr2:220429953 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.907G>A (p.Val303Met) | single nucleotide variant | Three M syndrome 2 [RCV001143238] | Chr2:219570326 [GRCh38] Chr2:220435048 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1850G>T (p.Arg617Leu) | single nucleotide variant | Three M syndrome 2 [RCV001141278] | Chr2:219567114 [GRCh38] Chr2:220431836 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.-73C>T | single nucleotide variant | Three M syndrome 2 [RCV001141508] | Chr2:219571305 [GRCh38] Chr2:220436027 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1296G>A (p.Lys432=) | single nucleotide variant | Three M syndrome 2 [RCV001136566] | Chr2:219567956 [GRCh38] Chr2:220432678 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4202C>T (p.Pro1401Leu) | single nucleotide variant | Three M syndrome 2 [RCV001142809] | Chr2:219556588 [GRCh38] Chr2:220421310 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4183A>G (p.Asn1395Asp) | single nucleotide variant | Three M syndrome 2 [RCV001142811] | Chr2:219556607 [GRCh38] Chr2:220421329 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3591G>C (p.Leu1197=) | single nucleotide variant | Three M syndrome 2 [RCV001142910] | Chr2:219558022 [GRCh38] Chr2:220422744 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) | single nucleotide variant | Three M syndrome 2 [RCV001140963] | Chr2:219556200 [GRCh38] Chr2:220420922 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4419C>T (p.Gly1473=) | single nucleotide variant | Three M syndrome 2 [RCV001140964] | Chr2:219556210 [GRCh38] Chr2:220420932 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.3853G>A (p.Gly1285Arg) | single nucleotide variant | Three M syndrome 2 [RCV001141053] | Chr2:219557556 [GRCh38] Chr2:220422278 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2791T>G (p.Trp931Gly) | single nucleotide variant | Three M syndrome 2 [RCV001141177] | Chr2:219562564 [GRCh38] Chr2:220427286 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.993C>T (p.Ala331=) | single nucleotide variant | Three M syndrome 2 [RCV001141389] | Chr2:219570240 [GRCh38] Chr2:220434962 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2349T>A (p.Ser783Arg) | single nucleotide variant | Three M syndrome 2 [RCV001138280] | Chr2:219565300 [GRCh38] Chr2:220430022 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.4194C>A (p.Val1398=) | single nucleotide variant | Three M syndrome 2 [RCV001142810] | Chr2:219556596 [GRCh38] Chr2:220421318 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.1663C>T (p.Arg555Trp) | single nucleotide variant | Three M syndrome 2 [RCV001143128] | Chr2:219567447 [GRCh38] Chr2:220432169 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_015311.3(OBSL1):c.2635del (p.Cys879fs) | deletion | Three M syndrome 2 [RCV001198095] | Chr2:219563400 [GRCh38] Chr2:220428122 [GRCh37] Chr2:2q35 |
likely pathogenic |
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 | copy number gain | See cases [RCV001263052] | Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:29092 | AgrOrtholog |
COSMIC | OBSL1 | COSMIC |
Ensembl Genes | ENSG00000124006 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000289656 | UniProtKB/TrEMBL |
ENSP00000362980 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000362983 | UniProtKB/TrEMBL | |
ENSP00000385636 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000403665 | UniProtKB/TrEMBL | |
ENSP00000474519 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000475126 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000289656 | UniProtKB/TrEMBL |
ENST00000373873 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000373876 | UniProtKB/TrEMBL | |
ENST00000404537 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000456147 | UniProtKB/TrEMBL | |
ENST00000603926 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000604031 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000124006 | GTEx |
HGNC ID | HGNC:29092 | ENTREZGENE |
Human Proteome Map | OBSL1 | Human Proteome Map |
InterPro | FN3_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FN3_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_I-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:23363 | UniProtKB/Swiss-Prot |
NCBI Gene | 23363 | ENTREZGENE |
OMIM | 610991 | OMIM |
612921 | OMIM | |
Pfam | I-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA142671235 | PharmGKB |
PROSITE | FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IG_LIKE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | IGc2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SM00409 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF49265 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniGene | Hs.526594 | ENTREZGENE |
UniProt | A6NN50_HUMAN | UniProtKB/TrEMBL |
A8MSZ8_HUMAN | UniProtKB/TrEMBL | |
H0Y684_HUMAN | UniProtKB/TrEMBL | |
O75147 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Q6P710_HUMAN | UniProtKB/TrEMBL | |
Q9H8B3 | ENTREZGENE, UniProtKB/TrEMBL | |
S4R463_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | A4KVA4 | UniProtKB/Swiss-Prot |
A4KVA5 | UniProtKB/Swiss-Prot | |
Q96IW3 | UniProtKB/Swiss-Prot | |
S4R3M6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-08-20 | OBSL1 | obscurin like cytoskeletal adaptor 1 | OBSL1 | obscurin like 1 | Symbol and/or name change | 5135510 | APPROVED |
2016-07-19 | OBSL1 | obscurin like 1 | obscurin-like 1 | Symbol and/or name change | 5135510 | APPROVED |