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先天性QT延長症候群
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_000238.4(KCNH2):c.46del (p.Asp16fs) | KCNH2 | Pathogenic | 7 | 150674956 | 150674956 | TC | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter) | KCNH2 | Pathogenic | 7 | 150674971 | 150674971 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA008102 |
| Deletion | NC_000007.14:g.(?_150974691)_(150977933_?)del | KCNH2 | Pathogenic | 7 | 150671779 | 150675021 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_150944956)_(150978314_?)del | KCNH2 | Pathogenic | 7 | 150642044 | 150675402 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.13:g.(?_150642433)_(151573725_?)del | KCNH2 | Pathogenic | 7 | 150642433 | 151573725 | na | na | criteria provided, single submitter | - |
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