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神経線維腫症I型
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_001042492.3(NF1):c.3651T>G (p.Asp1217Glu) | NF1 | Likely pathogenic | 17 | 29560174 | 29560174 | T | G | criteria provided, single submitter | ClinGen:CA398990468 |
| Deletion | NM_001042492.3(NF1):c.3665del (p.Pro1222fs) | NF1 | Pathogenic | 17 | 29560186 | 29560186 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA289338290 |
| single nucleotide variant | NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) | NF1 | Pathogenic/Likely pathogenic | 17 | 29562754 | 29562754 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA398992784 |
| Deletion | NM_001042492.3(NF1):c.4076del (p.Pro1359fs) | NF1 | Pathogenic | 17 | 29576098 | 29576098 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA645373127 |
| single nucleotide variant | NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) | NF1 | Pathogenic/Likely pathogenic | 17 | 29585518 | 29585518 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA398998175 |
| single nucleotide variant | NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter) | NF1 | Pathogenic/Likely pathogenic | 17 | 29586056 | 29586056 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA398998696 |
| single nucleotide variant | NM_001042492.3(NF1):c.4372G>A (p.Glu1458Lys) | NF1 | Pathogenic | 17 | 29586089 | 29586089 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA398998810 |
| Deletion | NM_001042492.3(NF1):c.4460del (p.Pro1487fs) | NF1 | Pathogenic | 17 | 29587415 | 29587415 | TC | T | criteria provided, single submitter | ClinGen:CA645373128 |
| single nucleotide variant | NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly) | NF1 | Pathogenic | 17 | 29587454 | 29587454 | A | G | criteria provided, single submitter | ClinGen:CA398999503 |
| single nucleotide variant | NM_001042492.3(NF1):c.4520T>G (p.Leu1507Ter) | NF1 | Pathogenic | 17 | 29587476 | 29587476 | T | G | criteria provided, single submitter | ClinGen:CA398999657 |
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