膵臓がん・悪性黒色腫症候群 - MGenReviews

膵臓がん・悪性黒色腫症候群

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_000077.5(CDKN2A):c.150+2T>C	CDKN2A	Likely pathogenic	9	21974675	21974675	A	G	criteria provided, single submitter	ClinGen:CA16612864
single nucleotide variant	NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser)	CDKN2A	Likely pathogenic	9	21971146	21971146	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012207
single nucleotide variant	NM_000077.5(CDKN2A):c.151-1G>T	CDKN2A	Pathogenic/Likely pathogenic	9	21971208	21971208	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618833
single nucleotide variant	NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)	CDKN2A	Pathogenic/Likely pathogenic	9	21974759	21974759	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618835
Deletion	NM_000077.5(CDKN2A):c.132del (p.Ser43_Tyr44insTer)	CDKN2A	Pathogenic	9	21974695	21974695	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369444
single nucleotide variant	NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser)	CDKN2A	Likely pathogenic	9	21974760	21974760	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086621
Duplication	NM_000077.5(CDKN2A):c.45dup (p.Leu16fs)	CDKN2A	Pathogenic	9	21974781	21974782	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369445
single nucleotide variant	NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)	CDKN2A	Pathogenic/Likely pathogenic	9	21974681	21974681	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086481
Deletion	NC_000009.12:g.(?_21994140)_(21994331_?)del	CDKN2A	Pathogenic	9	21994139	21994330	na	na	criteria provided, single submitter	-
Deletion	NM_000077.5(CDKN2A):c.283del (p.Val95fs)	CDKN2A	Pathogenic	9	21971075	21971075	AC	A	criteria provided, single submitter	ClinGen:CA658656027

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