Knowledge base for genomic medicine in Japanese
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ヌーナン症候群
小児・神経疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) | PTPN11 | Pathogenic/Likely pathogenic | 12 | 112888166 | 112888166 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA273600 |
| single nucleotide variant | NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) | PTPN11 | Pathogenic/Likely pathogenic | 12 | 112888198 | 112888198 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA180706,UniProtKB:Q06124#VAR_015996 |
| single nucleotide variant | NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) | PTPN11 | Pathogenic/Likely pathogenic | 12 | 112892440 | 112892440 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273218 |
| single nucleotide variant | NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) | KRAS | Pathogenic | 12 | 25362830 | 25362830 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273160 |
| single nucleotide variant | NM_004985.5(KRAS):c.214A>T (p.Met72Leu) | KRAS | Pathogenic/Likely pathogenic | 12 | 25380244 | 25380244 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273592 |
| single nucleotide variant | NM_004985.5(KRAS):c.181C>A (p.Gln61Lys) | KRAS | Pathogenic | 12 | 25380277 | 25380277 | G | T | criteria provided, single submitter | ClinGen:CA180750 |
| single nucleotide variant | NM_004985.5(KRAS):c.108A>G (p.Ile36Met) | KRAS | Pathogenic/Likely pathogenic | 12 | 25398211 | 25398211 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA273162,UniProtKB:P01116#VAR_064854 |
| single nucleotide variant | NM_004985.5(KRAS):c.179G>T (p.Gly60Val) | KRAS | Pathogenic/Likely pathogenic | 12 | 25380279 | 25380279 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA176493 |
| single nucleotide variant | NM_004985.5(KRAS):c.39C>A (p.Gly13=) | KRAS | Likely pathogenic | 12 | 25398280 | 25398280 | G | T | criteria provided, single submitter | ClinGen:CA176496 |
| Duplication | NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup) | BRAF | Pathogenic | 7 | 140453138 | 140453139 | T | TGTA | criteria provided, multiple submitters, no conflicts | ClinGen:CA251212 |
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