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肥大型心筋症
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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_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) | TNNT2 | Pathogenic | 1 | 201334372 | 201334372 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004383,UniProtKB:P45379#VAR_007607,OMIM:191045.0005 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201334370 | 201334370 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA004389 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys) | TNNT2 | Likely pathogenic | 1 | 201334348 | 201334348 | C | T | criteria provided, single submitter | ClinGen:CA004396 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201333497 | 201333497 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004443 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.421C>G (p.Arg141Gly) | TNNT2 | Likely pathogenic | 1 | 201333494 | 201333494 | G | C | criteria provided, single submitter | ClinGen:CA16603524 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201333494 | 201333494 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA090410,OMIM:191045.0008 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) | TNNT2 | Likely pathogenic | 1 | 201333493 | 201333493 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA004472 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) | TNNT2 | Pathogenic | 1 | 201333493 | 201333493 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004465 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201333485 | 201333485 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA004479 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.445C>A (p.Arg149Ser) | TNNT2 | Likely pathogenic | 1 | 201333470 | 201333470 | G | T | criteria provided, single submitter | ClinGen:CA089867 |
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