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ゴーシェ病
小児・神経疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) | GBA1 | Likely pathogenic | 1 | 155205517 | 155205517 | T | A | criteria provided, single submitter | ClinGen:CA253061,UniProtKB:P04062#VAR_003314,OMIM:606463.0007 |
| single nucleotide variant | NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) | GBA1 | Likely pathogenic | 1 | 155206170 | 155206170 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA221381,UniProtKB:P04062#VAR_003296,OMIM:606463.0030 |
| single nucleotide variant | NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) | GBA1 | Likely pathogenic | 1 | 155206052 | 155206052 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA253096,UniProtKB:P04062#VAR_003300,OMIM:606463.0032 |
| Deletion | NM_000157.4(GBA1):c.533del (p.Pro178fs) | GBA1 | Likely pathogenic | 1 | 155208363 | 155208363 | AG | A | criteria provided, single submitter | OMIM:606463.0034,ClinGen:CA253100 |
| single nucleotide variant | NM_000157.4(GBA1):c.1049A>G (p.His350Arg) | GBA1 | Likely pathogenic | 1 | 155206211 | 155206211 | T | C | criteria provided, single submitter | ClinGen:CA253105,UniProtKB:P04062#VAR_009044,OMIM:606463.0037 |
| single nucleotide variant | NM_000157.4(GBA1):c.509G>T (p.Arg170Leu) | GBA1 | Likely pathogenic | 1 | 155208387 | 155208387 | C | A | criteria provided, single submitter | ClinGen:CA253112,UniProtKB:P04062#VAR_009036,OMIM:606463.0042 |
| single nucleotide variant | NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) | GBA1 | Likely pathogenic | 1 | 155207235 | 155207235 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA275428 |
| single nucleotide variant | NM_000157.4(GBA1):c.860G>T (p.Cys287Phe) | GBA1 | Likely pathogenic | 1 | 155207271 | 155207271 | C | A | criteria provided, single submitter | ClinGen:CA16603437 |
| single nucleotide variant | NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) | GBA1 | Likely pathogenic | 1 | 155206208 | 155206208 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA342717600 |
| single nucleotide variant | NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter) | GBA1 | Likely pathogenic | 1 | 155205581 | 155205581 | C | A | criteria provided, single submitter | ClinGen:CA342713575 |
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