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
single nucleotide variant	NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter)	PTCH1	Pathogenic	9	98244236	98244236	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612940
Duplication	NM_016169.4(SUFU):c.171dup (p.Val58fs)	SUFU	Pathogenic	10	104264079	104264080	T	TC	criteria provided, single submitter	ClinGen:CA16612978
single nucleotide variant	NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)	SUFU	Pathogenic	10	104309845	104309845	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612979
Indel	NM_000264.5(PTCH1):c.2860_2869delinsTAGT (p.Asp954_Pro957delinsTer)	PTCH1	Pathogenic	9	98221900	98221909	GCATGTAGTC	ACTA	criteria provided, single submitter	ClinGen:CA16618902
single nucleotide variant	NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)	PTCH1	Pathogenic/Likely pathogenic	9	98221936	98221936	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618903
single nucleotide variant	NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter)	PTCH1	Pathogenic	9	98224140	98224140	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618904
Deletion	NM_000264.5(PTCH1):c.2072_2073del (p.Thr691fs)	PTCH1	Pathogenic	9	98231210	98231211	CGG	C	criteria provided, single submitter	ClinGen:CA16618905
Duplication	NM_000264.5(PTCH1):c.1615dup (p.Glu539fs)	PTCH1	Pathogenic	9	98238428	98238429	T	TC	criteria provided, single submitter	ClinGen:CA16618907
single nucleotide variant	NM_000264.5(PTCH1):c.1603-2A>G	PTCH1	Pathogenic	9	98238443	98238443	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618908
single nucleotide variant	NM_000264.5(PTCH1):c.1348-2A>G	PTCH1	Pathogenic	9	98239986	98239986	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618909

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