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ブルガダ症候群
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Duplication | NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs) | KCNH2 | Pathogenic | 7 | 150644469 | 150644470 | C | CCG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656012 |
| Deletion | NC_000007.14:g.(?_150974691)_(150977933_?)del | KCNH2 | Pathogenic | 7 | 150671779 | 150675021 | na | na | criteria provided, single submitter | - |
| Duplication | NM_000238.4(KCNH2):c.1335dup (p.Gly446fs) | KCNH2 | Pathogenic | 7 | 150649734 | 150649735 | C | CA | criteria provided, single submitter | ClinGen:CA658656055 |
| Deletion | NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs) | KCNH2 | Pathogenic | 7 | 150654385 | 150654386 | TGA | T | criteria provided, single submitter | ClinGen:CA658656010 |
| single nucleotide variant | NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter) | KCNH2 | Pathogenic | 7 | 150656671 | 150656671 | C | T | criteria provided, single submitter | ClinGen:CA369863610 |
| Duplication | NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs) | KCNH2 | Pathogenic | 7 | 150644461 | 150644462 | C | CCCCGGGG | criteria provided, single submitter | ClinGen:CA658656011 |
| Indel | NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA | KCNH2 | Likely pathogenic | 7 | 150647509 | 150647511 | CTG | TT | criteria provided, single submitter | ClinGen:CA658656024 |
| single nucleotide variant | NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter) | KCNH2 | Pathogenic | 7 | 150648092 | 150648092 | G | A | criteria provided, single submitter | ClinGen:CA369857554 |
| Duplication | NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs) | KCNH2 | Pathogenic | 7 | 150644471 | 150644472 | G | GCCGAC | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656013 |
| Deletion | NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del) | KCNH2 | Likely pathogenic | 7 | 150647337 | 150647474 | CCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGT | C | criteria provided, single submitter | ClinGen:CA658656021 |
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