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
Duplication	NM_000264.5(PTCH1):c.715dup (p.Ala239fs)	PTCH1	Pathogenic	9	98244261	98244262	G	GC	criteria provided, single submitter	ClinGen:CA645369453
Deletion	NM_000264.5(PTCH1):c.482_491del (p.Thr161fs)	PTCH1	Pathogenic	9	98248060	98248069	TTCTTTAGGGG	T	criteria provided, single submitter	ClinGen:CA645369456
single nucleotide variant	NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)	PTCH1	Pathogenic	9	98248148	98248148	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374117333
single nucleotide variant	NM_000264.5(PTCH1):c.394+1G>A	PTCH1	Pathogenic	9	98268688	98268688	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374120125
Deletion	NM_000264.5(PTCH1):c.371_387del (p.Asn124fs)	PTCH1	Pathogenic	9	98268696	98268712	CCCACAGCTCCTCCACGT	C	criteria provided, single submitter	ClinGen:CA645369460
single nucleotide variant	NM_000264.5(PTCH1):c.294C>A (p.Cys98Ter)	PTCH1	Pathogenic	9	98268789	98268789	G	T	criteria provided, single submitter	ClinGen:CA374120337
single nucleotide variant	NM_000264.5(PTCH1):c.202-2A>C	PTCH1	Pathogenic/Likely pathogenic	9	98268883	98268883	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA374120777
single nucleotide variant	NM_000264.5(PTCH1):c.201+1G>A	PTCH1	Likely pathogenic	9	98270442	98270442	C	T	criteria provided, single submitter	ClinGen:CA374121236
single nucleotide variant	NM_000264.5(PTCH1):c.2626G>T (p.Gly876Ter)	PTCH1	Pathogenic	9	98224215	98224215	C	A	criteria provided, single submitter	ClinGen:CA374113441
single nucleotide variant	NM_000264.5(PTCH1):c.2561-1G>A	PTCH1	Pathogenic	9	98224281	98224281	C	T	criteria provided, single submitter	ClinGen:CA374113600

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