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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.701G>A (p.Gly234Glu) | GBA1 | Pathogenic | 1 | 155207985 | 155207985 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207983 | 155207983 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA341581,UniProtKB:P04062#VAR_003278 |
| single nucleotide variant | NM_000157.4(GBA1):c.709A>G (p.Lys237Glu) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207977 | 155207977 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207965 | 155207965 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA221411,UniProtKB:P04062#VAR_003279 |
| single nucleotide variant | NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207932 | 155207932 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA221413,UniProtKB:P04062#VAR_003281,OMIM:606463.0013 |
| single nucleotide variant | NM_000157.4(GBA1):c.762-1G>C | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207370 | 155207370 | C | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207367 | 155207367 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA253065,UniProtKB:P04062#VAR_003282,OMIM:606463.0010 |
| 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.886C>T (p.Arg296Ter) | GBA1 | Pathogenic | 1 | 155207245 | 155207245 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) | GBA1 | Pathogenic | 1 | 155207244 | 155207244 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA221417,UniProtKB:P04062#VAR_003284,OMIM:606463.0041 |
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