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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.1342G>C (p.Asp448His) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155205518 | 155205518 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA221392,UniProtKB:P04062#VAR_003313,OMIM:606463.0006,OMIM:606463.0047,ClinVar:4334 |
| single nucleotide variant | NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155205563 | 155205563 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA253059,UniProtKB:P04062#VAR_003310,OMIM:606463.0005 |
| single nucleotide variant | NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155208420 | 155208420 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA253057,UniProtKB:P04062#VAR_003263,OMIM:606463.0004 |
| Deletion | NM_000157.4(GBA1):c.595_596del (p.Leu199fs) | GBA1 | Pathogenic | 1 | 155208090 | 155208091 | CAG | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) | GBA1 | Pathogenic | 1 | 155208033 | 155208033 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter) | GBA1 | Pathogenic | 1 | 155205503 | 155205503 | G | A | criteria provided, single submitter | - |
| 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.886C>T (p.Arg296Ter) | GBA1 | Pathogenic | 1 | 155207245 | 155207245 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000157.4(GBA1):c.1348T>A (p.Phe450Ile) | GBA1 | Pathogenic | 1 | 155205512 | 155205512 | A | T | criteria provided, single submitter | ClinGen:CA342712792 |
| single nucleotide variant | NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn) | GBA1 | Pathogenic | 1 | 155205548 | 155205548 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA342713229 |
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