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

1
...
14
15
16
17
18
...
23

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.2561-2A>G	PTCH1	Pathogenic	9	98224282	98224282	T	C	criteria provided, single submitter	ClinGen:CA374113601
Deletion	NM_000264.5(PTCH1):c.1348-14_1370del	PTCH1	Pathogenic	9	98239962	98239998	CATGGTTAGACAGGCATAGGCGAGCTGCAAGCAGAACA	C	criteria provided, single submitter	ClinGen:CA658797232
single nucleotide variant	NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter)	PTCH1	Pathogenic	9	98248103	98248103	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374117142
single nucleotide variant	NM_016169.4(SUFU):c.183-1G>A	SUFU	Likely pathogenic	10	104268925	104268925	G	A	criteria provided, single submitter	ClinGen:CA377888078
Duplication	NM_000264.5(PTCH1):c.3314dup (p.Thr1106fs)	PTCH1	Pathogenic	9	98215894	98215895	C	CA	criteria provided, single submitter	-
Duplication	NM_000264.5(PTCH1):c.2712dup (p.Gln905fs)	PTCH1	Pathogenic	9	98222056	98222057	G	GT	criteria provided, single submitter	-
Duplication	NM_000264.5(PTCH1):c.2135dup (p.Ser713fs)	PTCH1	Pathogenic	9	98231147	98231148	G	GA	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.1893_1902del (p.Asp632fs)	PTCH1	Pathogenic	9	98231381	98231390	CGTGTGTGTCG	C	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.1405_1423del (p.Val469fs)	PTCH1	Pathogenic	9	98239909	98239927	AGGACGCCAGCCAGCCCCAC	A	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.822del (p.Val275fs)	PTCH1	Pathogenic	9	98242795	98242795	CT	C	criteria provided, multiple submitters, no conflicts	-

1
...
14
15
16
17
18
...
23