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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperphosphatasia with Mental Retardation | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway AnnotationsPhenotype Annotations
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References - curated| 1. | OMIM Disease Annotation Pipeline |
| 2. | Pipeline to import KEGG annotations from KEGG into RGD |
| 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 |
References - uncurated| PubMed | 8889548 10781593 11102867 12044878 12477932 12975309 15164053 15489334 16751776 19913121 19946888 20379614 20628086 21832049 21873635 22683086 24049131 24417746 26186194 28327575 28337824 28514442 |
Comparative Map Data| PIGO (Homo sapiens - human) |
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| Pigo (Mus musculus - house mouse) |
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| Pigo (Rattus norvegicus - Norway rat) |
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| Pigo (Chinchilla lanigera - long-tailed chinchilla) |
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| PIGO (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PIGO (Canis lupus familiaris - dog) |
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| Pigo (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PIGO (Sus scrofa - pig) |
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Position Markers| STS-T65159 |
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| WI-20557 |
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| D15S1477 |
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| L29953 |
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| D8S2279 |
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miRNA Target Status
| 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. |
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Nucleotide Sequences| RefSeq Transcripts | NG_031990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001201484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_032634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_152850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005251619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017015222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017015223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017015224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001746390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001746391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_242515 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB083625 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC004472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK074064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK090433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL353795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL833956 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AW149348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY358472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC001030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC013987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC029271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC036916 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC065282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BE139632 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BI818120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BU727886 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CD387014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR985224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR991745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DQ575362 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001201484 ⟹ NP_001188413 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
TCTCCCGAGAACCTCACCCCCCGGTATTCCCCTCACCCTGAAGTAAGGGAGTCTCCCTCTTCCChide sequence |
| RefSeq Acc Id: | NM_032634 ⟹ NP_116023 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
TCTCCCGAGAACCTCACCCCCCGGTATTCCCCTCACCCTGAAGTAAGGGAGTCTCCCTCTTCCChide sequence |
| RefSeq Acc Id: | NM_152850 ⟹ NP_690577 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
CGCAGGCGCCGCCGCCGCCGCACTTCCGGGTGCCATTGCAGGATGCAGAAAGCCTCAGTGTTGChide sequence |
| RefSeq Acc Id: | XM_005251619 ⟹ XP_005251676 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACTTCCGGGTGCCATTGCAGGATGCAGAAAGCCTCAGTGTTGCTCTTCCTGGCCTGGGTCTGCThide sequence |
| RefSeq Acc Id: | XM_017015222 ⟹ XP_016870711 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CATTGCAGGTGAGCCAGGGTCTCCCGAGAACCTCACCCCCCGGTATTCCCCTCACCCTGAAGTAhide sequence |
| RefSeq Acc Id: | XM_017015223 ⟹ XP_016870712 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCGGGTGCCATTGCAGGTGAGCCAGGGTCTCCCGAGAACCTCACCCCCCGGTATTCCCCTCACChide sequence |
| RefSeq Acc Id: | XM_017015224 ⟹ XP_016870713 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCAGGTGAGCCAGGGTCTCCCGAGAACCTCACCCCCCGGTATTCCCCTCACCCTGAAGTAAGGGhide sequence |
| RefSeq Acc Id: | XR_001746390 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
CCGGGTGCCATTGCAGGTGAGCCAGGGTCTCCCGAGAACCTCACCCCCCGGTATTCCCCTCACChide sequence |
| RefSeq Acc Id: | XR_001746391 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
ACTTCCGGGTGCCATTGCAGGATGCAGAAAGCCTCAGTGTTGCTCTTCCTGGCCTGGGTCTGCThide sequence |
| RefSeq Acc Id: | XR_242515 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
ACTTCCGGGTGCCATTGCAGGATGCAGAAAGCCTCAGTGTTGCTCTTCCTGGCCTGGGTCTGCThide sequence |
Protein Sequences| Protein RefSeqs | NP_001188413 | (Get FASTA) | NCBI Sequence Viewer |
| NP_116023 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_690577 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005251676 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870711 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870712 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870713 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAC07985 | (Get FASTA) | NCBI Sequence Viewer |
| AAH01030 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH13987 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH29271 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH36916 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH65282 | (Get FASTA) | NCBI Sequence Viewer | |
| AAQ88836 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB84890 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB89338 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC03414 | (Get FASTA) | NCBI Sequence Viewer | |
| CAD38806 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58397 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58398 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58399 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58400 | (Get FASTA) | NCBI Sequence Viewer | |
| Q8TEQ8 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_690577 ⟸ NM_152850 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q8TEQ8 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMAhide sequence |
| RefSeq Acc Id: | NP_116023 ⟸ NM_032634 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q8TEQ8 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMAhide sequence |
| RefSeq Acc Id: | NP_001188413 ⟸ NM_001201484 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q8TEQ8 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMAhide sequence |
| RefSeq Acc Id: | XP_005251676 ⟸ XM_005251619 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q8TEQ8 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMAhide sequence |
| RefSeq Acc Id: | XP_016870711 ⟸ XM_017015222 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q8TEQ8 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMAhide sequence |
| RefSeq Acc Id: | XP_016870712 ⟸ XM_017015223 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q8TEQ8 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMAhide sequence |
| RefSeq Acc Id: | XP_016870713 ⟸ XM_017015224 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q8TEQ8 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMAhide sequence |
Promoters| RGD ID: | 6807963 | |||||||||
| Promoter ID: | HG_KWN:63059 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000207590 | |||||||||
| Position: |
|
| RGD ID: | 6807985 | |||||||||
| Promoter ID: | HG_KWN:63060 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000341666, NM_032634, NM_152850, OTTHUMT00000052286, OTTHUMT00000052287, OTTHUMT00000052288, OTTHUMT00000207589, UC003ZWE.1, UC003ZWG.1 | |||||||||
| Position: |
|
| RGD ID: | 7214975 | |||||||||
| Promoter ID: | EPDNEW_H13233 | |||||||||
| Type: | multiple initiation site | |||||||||
| Name: | PIGO_2 | |||||||||
| Description: | phosphatidylinositol glycan anchor biosynthesis class O | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 7214977 | |||||||||
| Promoter ID: | EPDNEW_H13234 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PIGO_3 | |||||||||
| Description: | phosphatidylinositol glycan anchor biosynthesis class O | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 7214979 | |||||||||
| Promoter ID: | EPDNEW_H13235 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PIGO_1 | |||||||||
| Description: | phosphatidylinositol glycan anchor biosynthesis class O | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_032634.4(PIGO):c.394A>G (p.Met132Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000550988] | Chr9:35095172 [GRCh38] Chr9:35095169 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2233C>T (p.Arg745Trp) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000527623] | Chr9:35091654 [GRCh38] Chr9:35091651 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.94C>T (p.Arg32Cys) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000552426] | Chr9:35095472 [GRCh38] Chr9:35095469 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.789G>A (p.Val263=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000552630]|not specified [RCV000612011] | Chr9:35093571 [GRCh38] Chr9:35093568 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.3(PIGO):c.2361dupC | duplication | Hyperphosphatasia with mental retardation syndrome 2 [RCV000029246]|not provided [RCV000487095] | Chr9:35091526 [GRCh38] Chr9:35091523 [GRCh37] Chr9:9p13.3 |
pathogenic|likely pathogenic |
| NM_032634.3(PIGO):c.3069+5G>A | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000029247] | Chr9:35090061 [GRCh38] Chr9:35090058 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NM_032634.4(PIGO):c.737C>G (p.Pro246Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000542422] | Chr9:35093943 [GRCh38] Chr9:35093940 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.205C>T (p.Arg69Trp) | single nucleotide variant | not specified [RCV000520928] | Chr9:35095361 [GRCh38] Chr9:35095358 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3103C>T (p.Arg1035Cys) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000543482]|not specified [RCV000521509] | Chr9:35089417 [GRCh38] Chr9:35089414 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1891T>G (p.Cys631Gly) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000691364]|not specified [RCV000519497] | Chr9:35091996 [GRCh38] Chr9:35091993 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.662G>C (p.Ser221Thr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000549463] | Chr9:35094018 [GRCh38] Chr9:35094015 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.794G>A (p.Arg265His) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000526366] | Chr9:35093566 [GRCh38] Chr9:35093563 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3062G>C (p.Gly1021Ala) | single nucleotide variant | not specified [RCV000521988] | Chr9:35090073 [GRCh38] Chr9:35090070 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000029245] | Chr9:35090266 [GRCh38] Chr9:35090263 [GRCh37] Chr9:9p13.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|See cases [RCV000050357] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|See cases [RCV000051106] | Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|See cases [RCV000053703] | Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|See cases [RCV000053747] | Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] | Chr9:34340255..35163258 [GRCh38] Chr9:34340253..35163255 [GRCh37] Chr9:34330253..35153255 [NCBI36] Chr9:9p13.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_032634.4(PIGO):c.2004G>A (p.Leu668=) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000324713]|Hyperphosphatasia-intellectual disability syndrome [RCV000324713]|not provided [RCV000712557]|not specified [RCV000179986] | Chr9:35091883 [GRCh38] Chr9:35091880 [GRCh37] Chr9:9p13.3 |
benign |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 | copy number gain | See cases [RCV000133829] | Chr9:33225730..38529813 [GRCh38] Chr9:33225728..38529810 [GRCh37] Chr9:33215728..38519810 [NCBI36] Chr9:9p13.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 | copy number gain | See cases [RCV000135344] | Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 | copy number loss | See cases [RCV000134762] | Chr9:33572681..36782015 [GRCh38] Chr9:33572679..36782012 [GRCh37] Chr9:33562679..36772012 [NCBI36] Chr9:9p13.3-13.2 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 | copy number gain | See cases [RCV000136152] | Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
| GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 | copy number gain | See cases [RCV000137741] | Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 | copy number gain | See cases [RCV000137888] | Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 | copy number gain | See cases [RCV000139208] | Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 | copy number gain | See cases [RCV000139126] | Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| NM_032634.4(PIGO):c.2198G>A (p.Arg733Gln) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000549224]|not specified [RCV000202985] | Chr9:35091689 [GRCh38] Chr9:35091686 [GRCh37] Chr9:9p13.3 |
benign |
| GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) | copy number gain | See cases [RCV000140448] | Chr9:18344605..68257015 [GRCh38] Chr9:18344603..68995221 [GRCh37] Chr9:18334603..68285041 [NCBI36] Chr9:9p22.2-q21.11 |
pathogenic |
| GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 | copy number gain | See cases [RCV000141663] | Chr9:31426827..68257015 [GRCh38] Chr9:31426825..68330127 [GRCh37] Chr9:31416825..67819947 [NCBI36] Chr9:9p21.1-q21.11 |
pathogenic |
| GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 | copy number gain | See cases [RCV000142317] | Chr9:28975663..38787483 [GRCh38] Chr9:28975661..38787480 [GRCh37] Chr9:28965661..38777480 [NCBI36] Chr9:9p21.1-13.1 |
likely pathogenic |
| GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) | copy number gain | See cases [RCV000143411] | Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | See cases [RCV000148159] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| NM_032634.4(PIGO):c.2268G>A (p.Ala756=) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000355273]|Hyperphosphatasia with mental retardation syndrome 2 [RCV000542491]|Hyperphosphatasia-intellectual disability syndrome [RCV000355273]|not provided [RCV000712558]|not specified [RCV000179987] | Chr9:35091619 [GRCh38] Chr9:35091616 [GRCh37] Chr9:9p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 | copy number gain | See cases [RCV000240201] | Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| NM_032634.4(PIGO):c.253C>A (p.Pro85Thr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000525770] | Chr9:35095313 [GRCh38] Chr9:35095310 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2910G>A (p.Arg970=) | single nucleotide variant | not specified [RCV000599854] | Chr9:35090225 [GRCh38] Chr9:35090222 [GRCh37] Chr9:9p13.3 |
likely benign |
| GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 | copy number gain | See cases [RCV000240048] | Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 | copy number gain | See cases [RCV000239869] | Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_032634.4(PIGO):c.1355_1356del (p.Ala452fs) | deletion | Hyperphosphatasia with mental retardation syndrome 2 [RCV000595873] | Chr9:35092531..35092532 [GRCh38] Chr9:35092528..35092529 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NM_032634.4(PIGO):c.1119+11G>A | single nucleotide variant | not specified [RCV000600829] | Chr9:35093019 [GRCh38] Chr9:35093016 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp) | single nucleotide variant | Hyperphosphatasia-intellectual disability syndrome [RCV000626089] | Chr9:35091456 [GRCh38] Chr9:35091453 [GRCh37] Chr9:9p13.3 |
likely pathogenic |
| NM_032634.4(PIGO):c.1120-15C>A | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000266170]|Hyperphosphatasia-intellectual disability syndrome [RCV000266170]|not specified [RCV000253425] | Chr9:35092782 [GRCh38] Chr9:35092779 [GRCh37] Chr9:9p13.3 |
benign|likely benign |
| NM_032634.4(PIGO):c.512-17C>T | single nucleotide variant | not specified [RCV000246221] | Chr9:35094376 [GRCh38] Chr9:35094373 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.1119+7A>G | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000328393]|Hyperphosphatasia-intellectual disability syndrome [RCV000328393]|not provided [RCV000712555]|not specified [RCV000248645] | Chr9:35093023 [GRCh38] Chr9:35093020 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.1404A>C (p.Ala468=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000531361]|not specified [RCV000243981] | Chr9:35092483 [GRCh38] Chr9:35092480 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.3114C>T (p.Leu1038=) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000351943]|Hyperphosphatasia with mental retardation syndrome 2 [RCV000558152]|Hyperphosphatasia-intellectual disability syndrome [RCV000351943]|not specified [RCV000244895] | Chr9:35089406 [GRCh38] Chr9:35089403 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.1758C>T (p.Val586=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000530453]|not specified [RCV000613163] | Chr9:35092129 [GRCh38] Chr9:35092126 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.423C>T (p.Gly141=) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000296671]|Hyperphosphatasia with mental retardation syndrome 2 [RCV000556576]|Hyperphosphatasia-intellectual disability syndrome [RCV000296671]|not provided [RCV000712561]|not specified [RCV000250076] | Chr9:35095143 [GRCh38] Chr9:35095140 [GRCh37] Chr9:9p13.3 |
benign|likely benign |
| NM_032634.4(PIGO):c.2040G>C (p.Leu680=) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000354997]|Hyperphosphatasia with mental retardation syndrome 2 [RCV000548997]|Hyperphosphatasia-intellectual disability syndrome [RCV000354997]|not specified [RCV000253102] | Chr9:35091847 [GRCh38] Chr9:35091844 [GRCh37] Chr9:9p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000388287]|Hyperphosphatasia with mental retardation syndrome 2 [RCV000549663]|Hyperphosphatasia-intellectual disability syndrome [RCV000388287]|not provided [RCV000514062]|not specified [RCV000253196] | Chr9:35095105 [GRCh38] Chr9:35095102 [GRCh37] Chr9:9p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_032634.4(PIGO):c.*41T>G | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000343817]|Hyperphosphatasia-intellectual disability syndrome [RCV000343817] | Chr9:35089051 [GRCh38] Chr9:35089048 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.468C>T (p.His156=) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000345390]|Hyperphosphatasia-intellectual disability syndrome [RCV000345390] | Chr9:35095098 [GRCh38] Chr9:35095095 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.-213C>G | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000396208]|Hyperphosphatasia-intellectual disability syndrome [RCV000396208] | Chr9:35096366 [GRCh38] Chr9:35096363 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3177C>T (p.Ser1059=) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000398292]|Hyperphosphatasia-intellectual disability syndrome [RCV000398292] | Chr9:35089185 [GRCh38] Chr9:35089182 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.-94C>A | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000349244]|Hyperphosphatasia-intellectual disability syndrome [RCV000349244] | Chr9:35096247 [GRCh38] Chr9:35096244 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.626A>G (p.Asn209Ser) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000288030]|Hyperphosphatasia with mental retardation syndrome 2 [RCV000539232]|Hyperphosphatasia-intellectual disability syndrome [RCV000288030] | Chr9:35094245 [GRCh38] Chr9:35094242 [GRCh37] Chr9:9p13.3 |
likely benign|uncertain significance |
| NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000377119]|Hyperphosphatasia with mental retardation syndrome 2 [RCV000823785]|Hyperphosphatasia-intellectual disability syndrome [RCV000377119]|not specified [RCV000422600] | Chr9:35092610 [GRCh38] Chr9:35092607 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3070-12C>G | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000402131]|Hyperphosphatasia-intellectual disability syndrome [RCV000402131]|not specified [RCV000431598] | Chr9:35089462 [GRCh38] Chr9:35089459 [GRCh37] Chr9:9p13.3 |
likely benign|uncertain significance |
| NM_032634.4(PIGO):c.2807C>G (p.Ala936Gly) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000312107]|Hyperphosphatasia-intellectual disability syndrome [RCV000312107] | Chr9:35090513 [GRCh38] Chr9:35090510 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.*267C>G | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000383333]|Hyperphosphatasia-intellectual disability syndrome [RCV000383333] | Chr9:35088825 [GRCh38] Chr9:35088822 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000313482]|Hyperphosphatasia with mental retardation syndrome 2 [RCV000531940]|Hyperphosphatasia-intellectual disability syndrome [RCV000313482]|not specified [RCV000421736] | Chr9:35089402 [GRCh38] Chr9:35089399 [GRCh37] Chr9:9p13.3 |
likely benign|uncertain significance |
| NM_032634.4(PIGO):c.714C>T (p.Gly238=) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000385203]|Hyperphosphatasia with mental retardation syndrome 2 [RCV000527687]|Hyperphosphatasia-intellectual disability syndrome [RCV000385203]|not provided [RCV000712563]|not specified [RCV000425797] | Chr9:35093966 [GRCh38] Chr9:35093963 [GRCh37] Chr9:9p13.3 |
benign|likely benign|uncertain significance |
| NM_032634.4(PIGO):c.2166G>C (p.Ala722=) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000262881]|Hyperphosphatasia-intellectual disability syndrome [RCV000262881]|not specified [RCV000441071] | Chr9:35091721 [GRCh38] Chr9:35091718 [GRCh37] Chr9:9p13.3 |
likely benign|uncertain significance |
| NM_032634.4(PIGO):c.2065C>T (p.Arg689Cys) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000297835]|Hyperphosphatasia-intellectual disability syndrome [RCV000297835] | Chr9:35091822 [GRCh38] Chr9:35091819 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1810dup (p.Arg604fs) | duplication | Hyperphosphatasia with mental retardation syndrome 2 [RCV000358032]|Hyperphosphatasia-intellectual disability syndrome [RCV000611172]|not provided [RCV000790806] | Chr9:35092077 [GRCh38] Chr9:35092074 [GRCh37] Chr9:9p13.3 |
pathogenic|likely pathogenic |
| NM_032634.4(PIGO):c.2031G>A (p.Leu677=) | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000267174]|Hyperphosphatasia-intellectual disability syndrome [RCV000267174] | Chr9:35091856 [GRCh38] Chr9:35091853 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.*61C>T | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000291312]|Hyperphosphatasia-intellectual disability syndrome [RCV000291312] | Chr9:35089031 [GRCh38] Chr9:35089028 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000798140]|not specified [RCV000522205] | Chr9:35091252 [GRCh38] Chr9:35091249 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.511+14A>G | single nucleotide variant | not specified [RCV000604739] | Chr9:35095041 [GRCh38] Chr9:35095038 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.*372A>T | single nucleotide variant | Hyperphosphatasia with Intellectual Disability Syndrome [RCV000340441]|Hyperphosphatasia-intellectual disability syndrome [RCV000340441] | Chr9:35088720 [GRCh38] Chr9:35088717 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2648-1G>A | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650489]|not provided [RCV000522917] | Chr9:35090673 [GRCh38] Chr9:35090670 [GRCh37] Chr9:9p13.3 |
likely pathogenic |
| NM_032634.4(PIGO):c.939+18C>T | single nucleotide variant | not specified [RCV000600142] | Chr9:35093403 [GRCh38] Chr9:35093400 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2153A>G (p.Tyr718Cys) | single nucleotide variant | not specified [RCV000519907] | Chr9:35091734 [GRCh38] Chr9:35091731 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.95G>A (p.Arg32His) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000530717] | Chr9:35095471 [GRCh38] Chr9:35095468 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2705C>G (p.Thr902Ser) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000530104] | Chr9:35090615 [GRCh38] Chr9:35090612 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1035T>G (p.Ala345=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000554996] | Chr9:35093114 [GRCh38] Chr9:35093111 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2909G>A (p.Arg970Gln) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000555003] | Chr9:35090226 [GRCh38] Chr9:35090223 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.412C>T (p.Leu138Phe) | single nucleotide variant | not specified [RCV000414312] | Chr9:35095154 [GRCh38] Chr9:35095151 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.448G>A (p.Gly150Ser) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000534896] | Chr9:35095118 [GRCh38] Chr9:35095115 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2743A>G (p.Ile915Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000540260] | Chr9:35090577 [GRCh38] Chr9:35090574 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2054G>A (p.Arg685His) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000560387] | Chr9:35091833 [GRCh38] Chr9:35091830 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2522C>T (p.Thr841Ile) | single nucleotide variant | not provided [RCV000733470] | Chr9:35091365 [GRCh38] Chr9:35091362 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2979G>A (p.Leu993=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000533299] | Chr9:35090156 [GRCh38] Chr9:35090153 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.1352T>G (p.Met451Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000761591]|not provided [RCV000413195] | Chr9:35092535 [GRCh38] Chr9:35092532 [GRCh37] Chr9:9p13.3 |
likely pathogenic|uncertain significance |
| NM_032634.4(PIGO):c.365G>A (p.Arg122Gln) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000536244] | Chr9:35095201 [GRCh38] Chr9:35095198 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2722C>T (p.His908Tyr) | single nucleotide variant | not provided [RCV000413816] | Chr9:35090598 [GRCh38] Chr9:35090595 [GRCh37] Chr9:9p13.3 |
likely pathogenic |
| NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000693432]|not specified [RCV000413800] | Chr9:35092755 [GRCh38] Chr9:35092752 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 | copy number gain | See cases [RCV000449165] | Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) | copy number gain | See cases [RCV000447246] | Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | See cases [RCV000446521] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| NM_032634.4(PIGO):c.2889G>C (p.Leu963=) | single nucleotide variant | not specified [RCV000417454] | Chr9:35090246 [GRCh38] Chr9:35090243 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.102G>A (p.Glu34=) | single nucleotide variant | not specified [RCV000423640] | Chr9:35095464 [GRCh38] Chr9:35095461 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.939+12G>C | single nucleotide variant | not specified [RCV000427261] | Chr9:35093409 [GRCh38] Chr9:35093406 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.3141-15C>T | single nucleotide variant | not specified [RCV000437746] | Chr9:35089236 [GRCh38] Chr9:35089233 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2165C>T (p.Ala722Val) | single nucleotide variant | not specified [RCV000444922] | Chr9:35091722 [GRCh38] Chr9:35091719 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.-26G>T | single nucleotide variant | not specified [RCV000444932] | Chr9:35096179 [GRCh38] Chr9:35096176 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2316C>T (p.Gly772=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000820547]|not specified [RCV000444936] | Chr9:35091571 [GRCh38] Chr9:35091568 [GRCh37] Chr9:9p13.3 |
likely benign|uncertain significance |
| NM_032634.4(PIGO):c.1662G>A (p.Leu554=) | single nucleotide variant | not specified [RCV000441677] | Chr9:35092225 [GRCh38] Chr9:35092222 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.969T>G (p.Leu323=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000545452]|not specified [RCV000417841] | Chr9:35093180 [GRCh38] Chr9:35093177 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000543266]|not specified [RCV000431518] | Chr9:35089199 [GRCh38] Chr9:35089196 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.714C>G (p.Gly238=) | single nucleotide variant | not specified [RCV000431554] | Chr9:35093966 [GRCh38] Chr9:35093963 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.300C>T (p.Phe100=) | single nucleotide variant | not specified [RCV000424272] | Chr9:35095266 [GRCh38] Chr9:35095263 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2562C>T (p.Arg854=) | single nucleotide variant | not specified [RCV000434995] | Chr9:35091325 [GRCh38] Chr9:35091322 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.1776C>G (p.Gly592=) | single nucleotide variant | not specified [RCV000428140] | Chr9:35092111 [GRCh38] Chr9:35092108 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2627G>A (p.Gly876Glu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000540479]|not specified [RCV000438771] | Chr9:35091260 [GRCh38] Chr9:35091257 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2124G>A (p.Leu708=) | single nucleotide variant | not specified [RCV000438935] | Chr9:35091763 [GRCh38] Chr9:35091760 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2298G>A (p.Leu766=) | single nucleotide variant | not specified [RCV000432075] | Chr9:35091589 [GRCh38] Chr9:35091586 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2022G>T (p.Val674=) | single nucleotide variant | not specified [RCV000435579] | Chr9:35091865 [GRCh38] Chr9:35091862 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.879G>A (p.Glu293=) | single nucleotide variant | not specified [RCV000442866] | Chr9:35093481 [GRCh38] Chr9:35093478 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2854+10C>T | single nucleotide variant | not specified [RCV000439699] | Chr9:35090456 [GRCh38] Chr9:35090453 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2432G>A (p.Arg811Gln) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000548282]|not provided [RCV000712560]|not specified [RCV000439992] | Chr9:35091455 [GRCh38] Chr9:35091452 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.2287G>T (p.Val763Leu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000697576]|not specified [RCV000419926] | Chr9:35091600 [GRCh38] Chr9:35091597 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.656-8C>T | single nucleotide variant | not specified [RCV000426236] | Chr9:35094032 [GRCh38] Chr9:35094029 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.1392C>T (p.Ile464=) | single nucleotide variant | not specified [RCV000440251] | Chr9:35092495 [GRCh38] Chr9:35092492 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.900G>A (p.Leu300=) | single nucleotide variant | not specified [RCV000433291] | Chr9:35093460 [GRCh38] Chr9:35093457 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2679G>A (p.Ser893=) | single nucleotide variant | not specified [RCV000436858] | Chr9:35090641 [GRCh38] Chr9:35090638 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2025G>A (p.Ala675=) | single nucleotide variant | not specified [RCV000426613] | Chr9:35091862 [GRCh38] Chr9:35091859 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.469G>A (p.Ala157Thr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000529072]|not specified [RCV000430279] | Chr9:35095097 [GRCh38] Chr9:35095094 [GRCh37] Chr9:9p13.3 |
likely benign|uncertain significance |
| NM_032634.4(PIGO):c.2520C>T (p.Leu840=) | single nucleotide variant | not specified [RCV000440675] | Chr9:35091367 [GRCh38] Chr9:35091364 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.655+7A>C | single nucleotide variant | not specified [RCV000433852] | Chr9:35094209 [GRCh38] Chr9:35094206 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.512-7C>T | single nucleotide variant | not specified [RCV000437347] | Chr9:35094366 [GRCh38] Chr9:35094363 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2854+7C>A | single nucleotide variant | not specified [RCV000423482] | Chr9:35090459 [GRCh38] Chr9:35090456 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2763C>T (p.Phe921=) | single nucleotide variant | not specified [RCV000427054] | Chr9:35090557 [GRCh38] Chr9:35090554 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.1473G>C (p.Leu491=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000546265]|not provided [RCV000712556]|not specified [RCV000434010] | Chr9:35092414 [GRCh38] Chr9:35092411 [GRCh37] Chr9:9p13.3 |
benign |
| GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 | copy number gain | See cases [RCV000448242] | Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 | copy number gain | See cases [RCV000448569] | Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_032634.4(PIGO):c.-2+16_-2+19dup | duplication | not specified [RCV000483683] | Chr9:35096136..35096139 [GRCh38] Chr9:35096133..35096136 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2908C>T (p.Arg970Trp) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650482]|not specified [RCV000484017] | Chr9:35090227 [GRCh38] Chr9:35090224 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2854+8del | deletion | not specified [RCV000480219] | Chr9:35090458 [GRCh38] Chr9:35090455 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.1119+2T>C | single nucleotide variant | not provided [RCV000484721] | Chr9:35093028 [GRCh38] Chr9:35093025 [GRCh37] Chr9:9p13.3 |
likely pathogenic |
| NM_032634.4(PIGO):c.3069+2T>C | single nucleotide variant | not provided [RCV000485514] | Chr9:35090064 [GRCh38] Chr9:35090061 [GRCh37] Chr9:9p13.3 |
likely pathogenic |
| NM_032634.4(PIGO):c.1369C>G (p.Leu457Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000554064] | Chr9:35092518 [GRCh38] Chr9:35092515 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.*8_*9TG[1] | microsatellite | not specified [RCV000482978] | Chr9:35089081..35089082 [GRCh38] Chr9:35089078..35089079 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.364C>T (p.Arg122Ter) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000779581]|not provided [RCV000480085] | Chr9:35095202 [GRCh38] Chr9:35095199 [GRCh37] Chr9:9p13.3 |
likely pathogenic|uncertain significance |
| NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) | single nucleotide variant | not provided [RCV000480492] | Chr9:35094281 [GRCh38] Chr9:35094278 [GRCh37] Chr9:9p13.3 |
likely pathogenic |
| NM_032634.4(PIGO):c.3211_3212AG[1] (p.Arg1071fs) | microsatellite | not specified [RCV000523267] | Chr9:35089148..35089149 [GRCh38] Chr9:35089145..35089146 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000807419]|not provided [RCV000509082] | Chr9:35091861 [GRCh38] Chr9:35091858 [GRCh37] Chr9:9p13.3 |
uncertain significance|not provided |
| NM_032634.4(PIGO):c.2197C>T (p.Arg733Trp) | single nucleotide variant | not specified [RCV000497344] | Chr9:35091690 [GRCh38] Chr9:35091687 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2405G>A (p.Arg802Gln) | single nucleotide variant | not specified [RCV000498401] | Chr9:35091482 [GRCh38] Chr9:35091479 [GRCh37] Chr9:9p13.3 |
likely pathogenic|uncertain significance |
| NM_032634.4(PIGO):c.1122G>A (p.Val374=) | single nucleotide variant | not specified [RCV000493442] | Chr9:35092765 [GRCh38] Chr9:35092762 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.158G>A (p.Gly53Glu) | single nucleotide variant | not specified [RCV000494461] | Chr9:35095408 [GRCh38] Chr9:35095405 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1013G>A (p.Gly338Glu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650483]|not provided [RCV000712554]|not specified [RCV000493218] | Chr9:35093136 [GRCh38] Chr9:35093133 [GRCh37] Chr9:9p13.3 |
pathogenic|uncertain significance |
| NM_032634.4(PIGO):c.484A>G (p.Asn162Asp) | single nucleotide variant | not specified [RCV000493352] | Chr9:35095082 [GRCh38] Chr9:35095079 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | See cases [RCV000510864] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 | copy number gain | See cases [RCV000510986] | Chr9:17132123..35567051 [GRCh37] Chr9:9p22.2-13.3 |
pathogenic |
| NM_032634.4(PIGO):c.2186C>T (p.Pro729Leu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000534287] | Chr9:35091701 [GRCh38] Chr9:35091698 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NC_000009.11:g.(?_34458984)_(35809462_?)dup | duplication | Hyperphosphatasia with mental retardation syndrome 2 [RCV000540114] | Chr9:34458984..35809462 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.942G>A (p.Glu314=) | single nucleotide variant | not specified [RCV000601075] | Chr9:35093207 [GRCh38] Chr9:35093204 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.946G>A (p.Glu316Lys) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000541086] | Chr9:35093203 [GRCh38] Chr9:35093200 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2388G>A (p.Val796=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000768043] | Chr9:35091499 [GRCh38] Chr9:35091496 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1918C>T (p.Arg640Cys) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000560168] | Chr9:35091969 [GRCh38] Chr9:35091966 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2634C>T (p.Pro878=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000556326] | Chr9:35091253 [GRCh38] Chr9:35091250 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.1960C>G (p.Leu654Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000534075] | Chr9:35091927 [GRCh38] Chr9:35091924 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1199T>C (p.Phe400Ser) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000533440] | Chr9:35092688 [GRCh38] Chr9:35092685 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1935A>G (p.Thr645=) | single nucleotide variant | not specified [RCV000615674] | Chr9:35091952 [GRCh38] Chr9:35091949 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2169G>A (p.Ser723=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650487]|not specified [RCV000616271] | Chr9:35091718 [GRCh38] Chr9:35091715 [GRCh37] Chr9:9p13.3 |
likely benign|uncertain significance |
| NM_032634.4(PIGO):c.876G>A (p.Leu292=) | single nucleotide variant | not specified [RCV000613393] | Chr9:35093484 [GRCh38] Chr9:35093481 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.1720C>T (p.Pro574Ser) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000556546] | Chr9:35092167 [GRCh38] Chr9:35092164 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2197C>G (p.Arg733Gly) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650479] | Chr9:35091690 [GRCh38] Chr9:35091687 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2080C>A (p.Leu694Ile) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650481] | Chr9:35091807 [GRCh38] Chr9:35091804 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2872C>A (p.Leu958Met) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650484] | Chr9:35090263 [GRCh38] Chr9:35090260 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.817G>A (p.Val273Ile) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650485] | Chr9:35093543 [GRCh38] Chr9:35093540 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.268G>A (p.Val90Met) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650486] | Chr9:35095298 [GRCh38] Chr9:35095295 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1045T>G (p.Ser349Ala) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650488] | Chr9:35093104 [GRCh38] Chr9:35093101 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2192G>A (p.Arg731His) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650490] | Chr9:35091695 [GRCh38] Chr9:35091692 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.56C>T (p.Ala19Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650491] | Chr9:35095510 [GRCh38] Chr9:35095507 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2168C>T (p.Ser723Leu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650492] | Chr9:35091719 [GRCh38] Chr9:35091716 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.324G>T (p.Gln108His) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650480] | Chr9:35095242 [GRCh38] Chr9:35095239 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2647+8T>C | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650493] | Chr9:35091232 [GRCh38] Chr9:35091229 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.1758C>G (p.Val586=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650494] | Chr9:35092129 [GRCh38] Chr9:35092126 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.3231C>T (p.Ser1077=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650496] | Chr9:35089131 [GRCh38] Chr9:35089128 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.828G>C (p.Gly276=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650497] | Chr9:35093532 [GRCh38] Chr9:35093529 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.3141-9T>A | single nucleotide variant | not specified [RCV000608531] | Chr9:35089230 [GRCh38] Chr9:35089227 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.1283T>A (p.Leu428Gln) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000539170] | Chr9:35092604 [GRCh38] Chr9:35092601 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.34T>C (p.Trp12Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000557957] | Chr9:35095532 [GRCh38] Chr9:35095529 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.459C>T (p.Phe153=) | single nucleotide variant | not specified [RCV000608811] | Chr9:35095107 [GRCh38] Chr9:35095104 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.2196C>T (p.Leu732=) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000650495]|not specified [RCV000614356] | Chr9:35091691 [GRCh38] Chr9:35091688 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.477G>A (p.Val159=) | single nucleotide variant | not specified [RCV000611643] | Chr9:35095089 [GRCh38] Chr9:35095086 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.54C>T (p.Tyr18=) | single nucleotide variant | not specified [RCV000604785] | Chr9:35095512 [GRCh38] Chr9:35095509 [GRCh37] Chr9:9p13.3 |
likely benign |
| GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 | copy number gain | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] | Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2 |
likely pathogenic |
| NM_032634.4(PIGO):c.279G>A (p.Glu93=) | single nucleotide variant | not specified [RCV000607760] | Chr9:35095287 [GRCh38] Chr9:35095284 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.387C>A (p.Thr129=) | single nucleotide variant | not specified [RCV000599870] | Chr9:35095179 [GRCh38] Chr9:35095176 [GRCh37] Chr9:9p13.3 |
likely benign |
| GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_032634.4(PIGO):c.1554A>G (p.Ala518=) | single nucleotide variant | not provided [RCV000657934] | Chr9:35092333 [GRCh38] Chr9:35092330 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1919G>A (p.Arg640His) | single nucleotide variant | not provided [RCV000658435] | Chr9:35091968 [GRCh38] Chr9:35091965 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.942G>T (p.Glu314Asp) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000685393] | Chr9:35093207 [GRCh38] Chr9:35093204 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1269_1270TG[1] (p.Val424fs) | microsatellite | Hyperphosphatasia with mental retardation syndrome 2 [RCV000699892] | Chr9:35092615..35092616 [GRCh38] Chr9:35092612..35092613 [GRCh37] Chr9:9p13.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 | copy number gain | not provided [RCV000683174] | Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | not provided [RCV000683172] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | not provided [RCV000683173] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 | copy number gain | not provided [RCV000683175] | Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 | copy number gain | not provided [RCV000683176] | Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
| NM_032634.4(PIGO):c.749A>G (p.Lys250Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000701885] | Chr9:35093931 [GRCh38] Chr9:35093928 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1363A>G (p.Thr455Ala) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000700269] | Chr9:35092524 [GRCh38] Chr9:35092521 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1864C>A (p.Leu622Met) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000686480] | Chr9:35092023 [GRCh38] Chr9:35092020 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.55G>T (p.Ala19Ser) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000704057] | Chr9:35095511 [GRCh38] Chr9:35095508 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3262C>G (p.Gln1088Glu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000690093] | Chr9:35089100 [GRCh38] Chr9:35089097 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3113T>G (p.Leu1038Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000706897] | Chr9:35089407 [GRCh38] Chr9:35089404 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2944G>A (p.Ala982Thr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000694875] | Chr9:35090191 [GRCh38] Chr9:35090188 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2092G>A (p.Glu698Lys) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000709821] | Chr9:35091795 [GRCh38] Chr9:35091792 [GRCh37] Chr9:9p13.3 |
not provided |
| NM_032634.4(PIGO):c.2084_2086del (p.Lys695del) | deletion | Hyperphosphatasia with mental retardation syndrome 2 [RCV000690707] | Chr9:35091801..35091803 [GRCh38] Chr9:35091798..35091800 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1718C>T (p.Thr573Ile) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000690801] | Chr9:35092169 [GRCh38] Chr9:35092166 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.298T>G (p.Phe100Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000691043] | Chr9:35095268 [GRCh38] Chr9:35095265 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2337C>T (p.Val779=) | single nucleotide variant | not provided [RCV000712559] | Chr9:35091550 [GRCh38] Chr9:35091547 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2267C>T (p.Ala756Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000702762] | Chr9:35091620 [GRCh38] Chr9:35091617 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NC_000009.11:g.(?_34645556)_(36277059_?)dup | duplication | Anauxetic dysplasia [RCV000708053] | Chr9:34645559..36277062 [GRCh38] Chr9:34645556..36277059 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2007G>A (p.Trp669Ter) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000705922] | Chr9:35091880 [GRCh38] Chr9:35091877 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NM_032634.4(PIGO):c.1959G>A (p.Trp653Ter) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000685434] | Chr9:35091928 [GRCh38] Chr9:35091925 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NM_032634.4(PIGO):c.2188C>T (p.Pro730Ser) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000689165] | Chr9:35091699 [GRCh38] Chr9:35091696 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2506A>G (p.Met836Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000689194] | Chr9:35091381 [GRCh38] Chr9:35091378 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NC_000009.11:g.(?_34458984)_(36277059_?)dup | duplication | Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492] | Chr9:34458984..36277059 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.676G>A (p.Val226Met) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000692350] | Chr9:35094004 [GRCh38] Chr9:35094001 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2053C>T (p.Arg685Cys) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000689862] | Chr9:35091834 [GRCh38] Chr9:35091831 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.418A>G (p.Thr140Ala) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000693235] | Chr9:35095148 [GRCh38] Chr9:35095145 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1442C>G (p.Pro481Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000695481] | Chr9:35092445 [GRCh38] Chr9:35092442 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.547A>G (p.Lys183Glu) | single nucleotide variant | not provided [RCV000712562] | Chr9:35094324 [GRCh38] Chr9:35094321 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.204dup (p.Arg69fs) | duplication | Hyperphosphatasia with mental retardation syndrome 2 [RCV000696325] | Chr9:35095362 [GRCh38] Chr9:35095359 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NM_032634.4(PIGO):c.2191dup (p.Arg731fs) | duplication | Hyperphosphatasia with mental retardation syndrome 2 [RCV000696328] | Chr9:35091696 [GRCh38] Chr9:35091693 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NC_000009.11:g.(?_34458984)_(35809462_?)del | deletion | Hyperphosphatasia with mental retardation syndrome 2 [RCV000708109] | Chr9:34458984..35809462 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NM_032634.4(PIGO):c.452G>A (p.Ser151Asn) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000696419] | Chr9:35095114 [GRCh38] Chr9:35095111 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1721C>G (p.Pro574Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000698283] | Chr9:35092166 [GRCh38] Chr9:35092163 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.782G>C (p.Gly261Ala) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000696650] | Chr9:35093578 [GRCh38] Chr9:35093575 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2891G>A (p.Cys964Tyr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000691855] | Chr9:35090244 [GRCh38] Chr9:35090241 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.974C>G (p.Pro325Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000691782] | Chr9:35093175 [GRCh38] Chr9:35093172 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1991G>C (p.Arg664Pro) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000689310] | Chr9:35091896 [GRCh38] Chr9:35091893 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2839C>T (p.His947Tyr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000706357] | Chr9:35090481 [GRCh38] Chr9:35090478 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| Single allele | complex | Glioma [RCV000754871] | Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_032634.4(PIGO):c.2404C>T (p.Arg802Ter) | single nucleotide variant | not provided [RCV000760860] | Chr9:35091483 [GRCh38] Chr9:35091480 [GRCh37] Chr9:9p13.3 |
likely pathogenic |
| NM_032634.4(PIGO):c.1392_1393insA (p.Cys465fs) | insertion | Hyperphosphatasia with mental retardation syndrome 2 [RCV000761592] | Chr9:35092494..35092495 [GRCh38] Chr9:35092491..35092492 [GRCh37] Chr9:9p13.3 |
likely pathogenic |
| NM_032634.4(PIGO):c.3194G>C (p.Gly1065Ala) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000768041] | Chr9:35089168 [GRCh38] Chr9:35089165 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 | copy number gain | not provided [RCV000848175] | Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000807715] | Chr9:35091896 [GRCh38] Chr9:35091893 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.589_590del (p.Pro197fs) | deletion | Hyperphosphatasia with mental retardation syndrome 2 [RCV000779580] | Chr9:35094282..35094283 [GRCh38] Chr9:35094277..35094279 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1707G>C (p.Glu569Asp) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000793131] | Chr9:35092180 [GRCh38] Chr9:35092177 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_032634.4(PIGO):c.196C>T (p.Arg66Ter) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000806267] | Chr9:35095370 [GRCh38] Chr9:35095367 [GRCh37] Chr9:9p13.3 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) | copy number gain | not provided [RCV000767644] | Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| NM_032634.4(PIGO):c.1120G>C (p.Val374Leu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000804357] | Chr9:35092767 [GRCh38] Chr9:35092764 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.438del (p.Phe146fs) | deletion | Hyperphosphatasia with mental retardation syndrome 2 [RCV000813290] | Chr9:35095130 [GRCh38] Chr9:35095125 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NM_032634.4(PIGO):c.572C>T (p.Ser191Phe) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000809680] | Chr9:35094299 [GRCh38] Chr9:35094296 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1526A>T (p.Asp509Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000819048] | Chr9:35092361 [GRCh38] Chr9:35092358 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2930G>A (p.Gly977Glu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000817405] | Chr9:35090205 [GRCh38] Chr9:35090202 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1094C>T (p.Ser365Leu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000797628] | Chr9:35093055 [GRCh38] Chr9:35093052 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2767G>A (p.Gly923Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000796909] | Chr9:35090553 [GRCh38] Chr9:35090550 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1831A>G (p.Thr611Ala) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000814264] | Chr9:35092056 [GRCh38] Chr9:35092053 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.372G>T (p.Gln124His) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000823377] | Chr9:35095194 [GRCh38] Chr9:35095191 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3198A>G (p.Ile1066Met) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000817696] | Chr9:35089164 [GRCh38] Chr9:35089161 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3098T>C (p.Ile1033Thr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000797520] | Chr9:35089422 [GRCh38] Chr9:35089419 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2648-51A>G | single nucleotide variant | not provided [RCV000832155] | Chr9:35090723 [GRCh38] Chr9:35090720 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.91dup (p.Thr31fs) | duplication | Hyperphosphatasia with mental retardation syndrome 2 [RCV000799847] | Chr9:35095475 [GRCh38] Chr9:35095472 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NM_032634.4(PIGO):c.1256C>T (p.Ala419Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000824258] | Chr9:35092631 [GRCh38] Chr9:35092628 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.908C>G (p.Pro303Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000824364] | Chr9:35093452 [GRCh38] Chr9:35093449 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1708G>A (p.Ala570Thr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000801753] | Chr9:35092179 [GRCh38] Chr9:35092176 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1460T>C (p.Val487Ala) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000821762] | Chr9:35092427 [GRCh38] Chr9:35092424 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1177C>T (p.Leu393Phe) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000807167] | Chr9:35092710 [GRCh38] Chr9:35092707 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1241C>G (p.Pro414Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000805472] | Chr9:35092646 [GRCh38] Chr9:35092643 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2030T>G (p.Leu677Arg) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000796027] | Chr9:35091857 [GRCh38] Chr9:35091854 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3002C>T (p.Ala1001Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000805602] | Chr9:35090133 [GRCh38] Chr9:35090130 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1069C>T (p.His357Tyr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000808504] | Chr9:35093080 [GRCh38] Chr9:35093077 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1119+122G>A | single nucleotide variant | not provided [RCV000836934] | Chr9:35092908 [GRCh38] Chr9:35092905 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.1549del (p.Ala517fs) | deletion | Hyperphosphatasia with mental retardation syndrome 2 [RCV000811662] | Chr9:35092339 [GRCh38] Chr9:35092335 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NM_032634.4(PIGO):c.23T>C (p.Leu8Pro) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000798983] | Chr9:35095543 [GRCh38] Chr9:35095540 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.511G>T (p.Gly171Ter) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000802291] | Chr9:35095055 [GRCh38] Chr9:35095052 [GRCh37] Chr9:9p13.3 |
pathogenic |
| NM_032634.4(PIGO):c.512-186G>A | single nucleotide variant | not provided [RCV000837145] | Chr9:35094545 [GRCh38] Chr9:35094542 [GRCh37] Chr9:9p13.3 |
likely benign |
| GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 | copy number gain | not provided [RCV000849826] | Chr9:34542635..68210033 [GRCh37] Chr9:9p13.3-q13 |
pathogenic |
| NM_032634.4(PIGO):c.3070-51C>T | single nucleotide variant | not provided [RCV000829996] | Chr9:35089501 [GRCh38] Chr9:35089498 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.1574T>A (p.Phe525Tyr) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000795538] | Chr9:35092313 [GRCh38] Chr9:35092310 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2764G>A (p.Val922Met) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000812656] | Chr9:35090556 [GRCh38] Chr9:35090553 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2852C>T (p.Ala951Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000797192] | Chr9:35090468 [GRCh38] Chr9:35090465 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_001201484.1(PIGO):c.1485dupT | variation | Hyperphosphatasia-intellectual disability syndrome [RCV000825540] | likely pathogenic | |
| NM_032634.4(PIGO):c.693C>G (p.Phe231Leu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000801204] | Chr9:35093987 [GRCh38] Chr9:35093984 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.511+91G>A | single nucleotide variant | not provided [RCV000832151] | Chr9:35094964 [GRCh38] Chr9:35094961 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.779+92G>C | single nucleotide variant | not provided [RCV000832152] | Chr9:35093809 [GRCh38] Chr9:35093806 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.780-125C>T | single nucleotide variant | not provided [RCV000832153] | Chr9:35093705 [GRCh38] Chr9:35093702 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.2647+83C>T | single nucleotide variant | not provided [RCV000832154] | Chr9:35091157 [GRCh38] Chr9:35091154 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.1127G>C (p.Arg376Pro) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000821012] | Chr9:35092760 [GRCh38] Chr9:35092757 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1351A>G (p.Met451Val) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000801827] | Chr9:35092536 [GRCh38] Chr9:35092533 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2114G>A (p.Arg705His) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000805101] | Chr9:35091773 [GRCh38] Chr9:35091770 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1618G>C (p.Ala540Pro) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000814805] | Chr9:35092269 [GRCh38] Chr9:35092266 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3069+248dup | duplication | not provided [RCV000837164] | Chr9:35089817..35089818 [GRCh38] Chr9:35089814..35089815 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.1247G>A (p.Gly416Glu) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000818863] | Chr9:35092640 [GRCh38] Chr9:35092637 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.939+10G>A | single nucleotide variant | not provided [RCV000827420] | Chr9:35093411 [GRCh38] Chr9:35093408 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.779+49C>T | single nucleotide variant | not provided [RCV000829995] | Chr9:35093852 [GRCh38] Chr9:35093849 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.1949C>T (p.Ser650Phe) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000809033] | Chr9:35091938 [GRCh38] Chr9:35091935 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.3107G>A (p.Arg1036Lys) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000815126] | Chr9:35089413 [GRCh38] Chr9:35089410 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1120-111A>G | single nucleotide variant | not provided [RCV000836859] | Chr9:35092878 [GRCh38] Chr9:35092875 [GRCh37] Chr9:9p13.3 |
benign |
| NM_032634.4(PIGO):c.1982T>G (p.Val661Gly) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000796367] | Chr9:35091905 [GRCh38] Chr9:35091902 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.856C>A (p.His286Asn) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000805698] | Chr9:35093504 [GRCh38] Chr9:35093501 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.206G>A (p.Arg69Gln) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000796555] | Chr9:35095360 [GRCh38] Chr9:35095357 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.2030T>C (p.Leu677Pro) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000803372] | Chr9:35091857 [GRCh38] Chr9:35091854 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.401G>A (p.Arg134His) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000804110] | Chr9:35095165 [GRCh38] Chr9:35095162 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.939+97C>T | single nucleotide variant | not provided [RCV000832276] | Chr9:35093324 [GRCh38] Chr9:35093321 [GRCh37] Chr9:9p13.3 |
likely benign |
| NM_032634.4(PIGO):c.3099C>G (p.Ile1033Met) | single nucleotide variant | Hyperphosphatasia with mental retardation syndrome 2 [RCV000804203] | Chr9:35089421 [GRCh38] Chr9:35089418 [GRCh37] Chr9:9p13.3 |
uncertain significance |
| NM_032634.4(PIGO):c.1392delinsGA (p.Ile464fs) | indel | Hyperphosphatasia with mental retardation syndrome 2 [RCV000851190] | Chr9:35092495 [GRCh38] Chr9:35092492 [GRCh37] Chr9:9p13.3 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 | copy number gain | not provided [RCV000845815] | Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:23215 | AgrOrtholog |
| COSMIC | PIGO | COSMIC |
| Ensembl Genes | ENSG00000165282 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000298004 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000354678 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000367880 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000298004 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000361778 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000378617 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 3.40.720.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000165282 | GTEx |
| HGNC ID | HGNC:23215 | ENTREZGENE |
| Human Proteome Map | PIGO | Human Proteome Map |
| InterPro | Alkaline_phosphatase_core_sf | UniProtKB/Swiss-Prot |
| Phosphodiest/P_Trfase | UniProtKB/Swiss-Prot | |
| PIG-O_N | UniProtKB/Swiss-Prot | |
| PIGO/GPI13 | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:84720 | UniProtKB/Swiss-Prot |
| NCBI Gene | 84720 | ENTREZGENE |
| OMIM | 614730 | OMIM |
| 614749 | OMIM | |
| PANTHER | PTHR23071 | UniProtKB/Swiss-Prot |
| Pfam | Phosphodiest | UniProtKB/Swiss-Prot |
| PharmGKB | PA134993507 | PharmGKB |
| Superfamily-SCOP | SSF53649 | UniProtKB/Swiss-Prot |
| UniGene | Hs.522099 | ENTREZGENE |
| Hs.735712 | ENTREZGENE | |
| UniProt | PIGO_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
| UniProt Secondary | B1AML3 | UniProtKB/Swiss-Prot |
| Q6P154 | UniProtKB/Swiss-Prot | |
| Q6UX80 | UniProtKB/Swiss-Prot | |
| Q8TDS8 | UniProtKB/Swiss-Prot | |
| Q96CS9 | UniProtKB/Swiss-Prot | |
| Q9BVN9 | UniProtKB/Swiss-Prot | |
| Q9Y4B0 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-11-10 | PIGO | phosphatidylinositol glycan anchor biosynthesis class O | phosphatidylinositol glycan anchor biosynthesis, class O | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on PIGO | |
|
Alliance Gene |
|
NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1319869 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
