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ロイス・ディーツ症候群
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val) | TGFBR2 | Likely pathogenic | 3 | 30715601 | 30715601 | G | T | criteria provided, single submitter | ClinGen:CA351808880 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1256T>A (p.Val419Glu) | TGFBR2 | Likely pathogenic | 3 | 30715598 | 30715598 | T | A | criteria provided, single submitter | ClinGen:CA324927 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu) | TGFBR2 | Likely pathogenic | 3 | 30715597 | 30715597 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA322630 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn) | TGFBR2 | Likely pathogenic | 3 | 30713864 | 30713864 | G | A | criteria provided, single submitter | ClinGen:CA10587567 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1181G>A (p.Cys394Tyr) | TGFBR2 | Likely pathogenic | 3 | 30713856 | 30713856 | G | A | criteria provided, single submitter | ClinGen:CA351808708 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1178G>A (p.Cys393Tyr) | TGFBR2 | Pathogenic | 3 | 30713853 | 30713853 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10587569 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1136A>T (p.Asp379Val) | TGFBR2 | Pathogenic | 3 | 30713811 | 30713811 | A | T | criteria provided, single submitter | ClinGen:CA10587568 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg) | TGFBR2 | Pathogenic | 3 | 30713805 | 30713805 | A | G | criteria provided, single submitter | ClinGen:CA351808600 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) | TGFBR2 | Likely pathogenic | 3 | 30713795 | 30713795 | C | T | criteria provided, single submitter | ClinGen:CA320627 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) | TGFBR2 | Pathogenic | 3 | 30713742 | 30713742 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020594 |
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