基底細胞母斑症候群 - MGenReviews

基底細胞母斑症候群

腫瘍性疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000264.5(PTCH1):c.1615del (p.Glu539fs)	PTCH1	Pathogenic	9	98238429	98238429	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582682
Deletion	NM_000264.5(PTCH1):c.3044_3071del (p.Phe1015fs)	PTCH1	Pathogenic	9	98220392	98220419	GAGGCCGATGTACTGCTCCCAGAAGAGGA	G	criteria provided, single submitter	ClinGen:CA10588476
Deletion	NM_000264.5(PTCH1):c.3042del (p.Phe1015fs)	PTCH1	Pathogenic	9	98220421	98220421	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588477
single nucleotide variant	NM_000264.5(PTCH1):c.2899G>T (p.Glu967Ter)	PTCH1	Pathogenic	9	98220564	98220564	C	A	criteria provided, single submitter	ClinGen:CA10603213
Duplication	NM_000264.5(PTCH1):c.2011dup (p.His671fs)	PTCH1	Pathogenic	9	98231271	98231272	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605647,OMIM:601309.0007
single nucleotide variant	NM_000264.5(PTCH1):c.1504-1G>C	PTCH1	Pathogenic/Likely pathogenic	9	98239140	98239140	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042793
Deletion	NM_000264.5(PTCH1):c.114del (p.Leu39fs)	PTCH1	Pathogenic/Likely pathogenic	9	98270530	98270530	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043675
single nucleotide variant	NM_000264.5(PTCH1):c.1585A>T (p.Lys529Ter)	PTCH1	Pathogenic	9	98239058	98239058	T	A	criteria provided, single submitter	ClinGen:CA16605773
single nucleotide variant	NM_000264.5(PTCH1):c.585-1G>C	PTCH1	Pathogenic	9	98244486	98244486	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605923
Deletion	NC_000009.12:g.(?_95442982)_(95508549_?)del	PTCH1	Pathogenic	9	98205264	98270831	na	na	criteria provided, single submitter	-

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