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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.1316C>T (p.Ala439Val) | NLRP3 | Pathogenic | 1 | 247588067 | 247588067 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA280958,OMIM:606416.0001 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1315G>A (p.Ala439Thr) | NLRP3 | Pathogenic | 1 | 247588066 | 247588066 | G | A | criteria provided, single submitter | ClinGen:CA281181 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1307C>T (p.Thr436Ile) | NLRP3 | Pathogenic/Likely pathogenic | 1 | 247588058 | 247588058 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA281177 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1213A>C (p.Thr405Pro) | NLRP3 | Pathogenic/Likely pathogenic | 1 | 247587964 | 247587964 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA281145 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1065A>C (p.Lys355Asn) | NLRP3 | Pathogenic | 1 | 247587816 | 247587816 | A | C | criteria provided, single submitter | ClinGen:CA345556009 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) | NLRP3 | Pathogenic | 1 | 247587809 | 247587809 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA280970,OMIM:606416.0010 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) | NLRP3 | Pathogenic/Likely pathogenic | 1 | 247587806 | 247587806 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA116780,OMIM:606416.0004 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr) | NLRP3 | Likely pathogenic | 1 | 247587805 | 247587805 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA281129 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met) | NLRP3 | Likely pathogenic | 1 | 247587802 | 247587802 | G | A | criteria provided, single submitter | ClinGen:CA281121 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) | NLRP3 | Pathogenic | 1 | 247587794 | 247587794 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA281117 |
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