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_016169.4(SUFU):c.175A>T (p.Lys59Ter)	SUFU	Pathogenic	10	104264084	104264084	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_016169.4(SUFU):c.454+1G>A	SUFU	Pathogenic	10	104309864	104309864	G	A	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.2251-28_2276del	PTCH1	Likely pathogenic	9	98229682	98229735	GCCCAGAAAAAGGAAGATCACCACTACCTGGAACAGAAGAGGCACAAGGTCAGAC	G	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.1704del (p.Ala569fs)	PTCH1	Pathogenic	9	98238340	98238340	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter)	PTCH1	Pathogenic	9	98242679	98242679	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000264.5(PTCH1):c.768del (p.Arg255_Trp256insTer)	PTCH1	Pathogenic	9	98242849	98242849	TC	T	criteria provided, single submitter	-
Insertion	NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)	SUFU	Pathogenic	10	104357035	104357036	C	CTGTGT	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.627del (p.Ile210fs)	PTCH1	Pathogenic	9	98244443	98244443	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter)	PTCH1	Pathogenic	9	98247972	98247972	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_016169.4(SUFU):c.824G>A (p.Trp275Ter)	SUFU	Pathogenic	10	104356964	104356964	G	A	criteria provided, single submitter	-

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