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	NC_000009.12:g.(?_95467116)_(95469931_?)del	PTCH1	Pathogenic	9	98229398	98232213	na	na	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.3460del (p.Ala1154fs)	PTCH1	Pathogenic	9	98212212	98212212	GC	G	criteria provided, single submitter	ClinGen:CA16612662
single nucleotide variant	NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)	PTCH1	Pathogenic	9	98220311	98220311	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612669
single nucleotide variant	NM_000264.5(PTCH1):c.1602+1G>T	PTCH1	Pathogenic	9	98239040	98239040	C	A	criteria provided, single submitter	ClinGen:CA16612681
Deletion	NM_000264.5(PTCH1):c.1155del (p.Asn386fs)	PTCH1	Pathogenic	9	98241342	98241342	TG	T	criteria provided, single submitter	ClinGen:CA16612686
single nucleotide variant	NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter)	PTCH1	Pathogenic	9	98229650	98229650	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612765
single nucleotide variant	NM_000264.5(PTCH1):c.1882C>T (p.Gln628Ter)	PTCH1	Pathogenic	9	98231401	98231401	G	A	criteria provided, single submitter	ClinGen:CA16612768
single nucleotide variant	NM_000264.5(PTCH1):c.1068-2A>T	PTCH1	Pathogenic	9	98241431	98241431	T	A	criteria provided, single submitter	ClinGen:CA16612775
single nucleotide variant	NM_000264.5(PTCH1):c.708G>A (p.Trp236Ter)	PTCH1	Pathogenic	9	98244269	98244269	C	T	criteria provided, single submitter	ClinGen:CA16612778
Deletion	NM_000264.5(PTCH1):c.454_455del (p.Met152fs)	PTCH1	Pathogenic	9	98248096	98248097	CAT	C	criteria provided, single submitter	ClinGen:CA16612783

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