Knowledge base for genomic medicine in Japanese
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筋ジストロフィー
小児・神経疾患
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https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_017739.4(POMGNT1):c.1539+1G>T | POMGNT1 | Pathogenic | 1 | 46657769 | 46657769 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA263949 |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46655573 | 46655573 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA263951 |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46655542 | 46655542 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA263954 |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46655211 | 46655211 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA263958 |
| Deletion | NM_017739.4(POMGNT1):c.1876del (p.Val626fs) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46655149 | 46655149 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA263962,OMIM:606822.0006 |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1895+1G>A | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46655129 | 46655129 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA263963,OMIM:606822.0021 |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1895+1G>T | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46655129 | 46655129 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA263964 |
| Deletion | NM_017739.4(POMGNT1):c.351del (p.Thr118fs) | POMGNT1 | Pathogenic | 1 | 46662406 | 46662406 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA263969 |
| Deletion | NM_017739.4(POMGNT1):c.447del (p.Phe149fs) | POMGNT1 | Pathogenic | 1 | 46661570 | 46661570 | CA | C | criteria provided, single submitter | ClinGen:CA263970 |
| Deletion | NM_017739.4(POMGNT1):c.593del (p.Ser198fs) | POMGNT1 | Pathogenic | 1 | 46660575 | 46660575 | GC | G | criteria provided, single submitter | ClinGen:CA263974 |
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