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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.266T>A (p.Ile89Asn) | TNNT2 | Pathogenic | 1 | 201334766 | 201334766 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004157,OMIM:191045.0001 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201334425 | 201334425 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004273,OMIM:191045.0002 |
| 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.451C>T (p.Arg151Trp) | TNNT2 | Pathogenic | 1 | 201333464 | 201333464 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004526,UniProtKB:P45379#VAR_016198,OMIM:191045.0007 |
| 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.294T>G (p.Asp98Glu) | TNNT2 | Likely pathogenic | 1 | 201334738 | 201334738 | A | C | criteria provided, single submitter | ClinGen:CA004247 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201334745 | 201334745 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA004228 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) | TNNT2 | Pathogenic | 1 | 201334426 | 201334426 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004266,UniProtKB:P45379#VAR_016196 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) | TNNT2 | Pathogenic | 1 | 201334419 | 201334419 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004294 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201334419 | 201334419 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004302 |
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