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.1364dup (p.Thr456fs)	PTCH1	Pathogenic	9	98239967	98239968	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.1225C>T (p.Gln409Ter)	PTCH1	Pathogenic	9	98240459	98240459	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter)	PTCH1	Pathogenic	9	98241299	98241299	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000264.5(PTCH1):c.1161G>A (p.Trp387Ter)	PTCH1	Pathogenic	9	98241336	98241336	C	T	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.1128del (p.Phe376fs)	PTCH1	Pathogenic	9	98241369	98241369	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.1002T>G (p.Tyr334Ter)	PTCH1	Pathogenic	9	98242316	98242316	A	C	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.970_976del (p.Asn324fs)	PTCH1	Pathogenic	9	98242342	98242348	CCACCATT	C	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.961del (p.Val322fs)	PTCH1	Pathogenic	9	98242357	98242357	AG	A	criteria provided, single submitter	-
Duplication	NM_000264.5(PTCH1):c.290dup (p.Asn97fs)	PTCH1	Pathogenic	9	98268792	98268793	G	GT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter)	PTCH1	Pathogenic	9	98268800	98268800	G	A	criteria provided, multiple submitters, no conflicts	-

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