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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.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 |
| single nucleotide variant | NM_000157.4(GBA1):c.475C>T (p.Arg159Trp) | GBA1 | Pathogenic | 1 | 155208421 | 155208421 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA221398,UniProtKB:P04062#VAR_003264 |
| Deletion | NM_000157.4(GBA1):c.487del (p.Ala163fs) | GBA1 | Pathogenic | 1 | 155208409 | 155208409 | GC | G | criteria provided, single submitter | ClinGen:CA221400 |
| single nucleotide variant | NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) | GBA1 | Pathogenic | 1 | 155208388 | 155208388 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA221401,UniProtKB:P04062#VAR_009035 |
| Deletion | NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) | GBA1 | Pathogenic | 1 | 155205541 | 155205595 | GGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA253083,dbVar:nssv3761540,OMIM:606463.0023 |
| single nucleotide variant | NM_000157.4(GBA1):c.580A>T (p.Lys194Ter) | GBA1 | Pathogenic | 1 | 155208316 | 155208316 | T | A | criteria provided, single submitter | ClinGen:CA10603918 |
| Deletion | NM_000157.4(GBA1):c.1029del (p.Lys342_Tyr343insTer) | GBA1 | Pathogenic | 1 | 155206231 | 155206231 | CA | C | criteria provided, single submitter | ClinGen:CA421022126 |
| Deletion | NM_000157.4(GBA1):c.630del (p.Val211fs) | GBA1 | Pathogenic | 1 | 155208056 | 155208056 | CG | C | criteria provided, single submitter | ClinGen:CA658683166 |
| 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 |
| 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 |
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