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遺伝性難聴
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_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys) | NLRP3 | Pathogenic/Likely pathogenic | 1 | 247588450 | 247588450 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA281254 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1709A>G (p.Tyr570Cys) | NLRP3 | Pathogenic | 1 | 247588460 | 247588460 | A | G | criteria provided, single submitter | ClinGen:CA281262 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.2264G>C (p.Gly755Ala) | NLRP3 | Likely pathogenic | 1 | 247593000 | 247593000 | G | C | criteria provided, single submitter | ClinGen:CA281314 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) | NLRP3 | Pathogenic/Likely pathogenic | 1 | 247599355 | 247599355 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA281318 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr) | NLRP3 | Likely pathogenic | 1 | 247587266 | 247587266 | T | C | criteria provided, single submitter | ClinGen:CA281331 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.785T>G (p.Val262Gly) | NLRP3 | Likely pathogenic | 1 | 247587536 | 247587536 | T | G | criteria provided, single submitter | ClinGen:CA281363 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.790C>G (p.Leu264Val) | NLRP3 | Likely pathogenic | 1 | 247587541 | 247587541 | C | G | criteria provided, single submitter | ClinGen:CA281367 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp) | NLRP3 | Pathogenic/Likely pathogenic | 1 | 247587653 | 247587653 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA281387 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.908A>G (p.Asp303Gly) | NLRP3 | Pathogenic | 1 | 247587659 | 247587659 | A | G | criteria provided, single submitter | ClinGen:CA281395 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys) | NLRP3 | Pathogenic | 1 | 247587661 | 247587661 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA281399 |
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