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

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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.458-105A>G	CDKN2A	Pathogenic/Likely pathogenic	9	21968346	21968346	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612773,OMIM:600160.0014
single nucleotide variant	NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)	CDKN2A	Pathogenic/Likely pathogenic	9	21970901	21970901	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA337714
Indel	NM_000077.5(CDKN2A):c.381_393delinsGATGCG (p.Arg128fs)	CDKN2A	Likely pathogenic	9	21970965	21970977	GCGCAGGTACCGT	CGCATC	criteria provided, single submitter	ClinGen:CA658656022
single nucleotide variant	NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)	CDKN2A	Pathogenic	9	21970981	21970981	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120398,UniProtKB:P42771#VAR_001479,OMIM:600160.0013
Duplication	NM_000077.5(CDKN2A):c.359_360dup (p.Leu121fs)	CDKN2A	Likely pathogenic	9	21970997	21970998	G	GCT	criteria provided, single submitter	-
Deletion	NM_000077.5(CDKN2A):c.358del (p.Glu120fs)	CDKN2A	Pathogenic	9	21971000	21971000	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612781
Duplication	NM_000077.5(CDKN2A):c.340_343dup (p.Val115fs)	CDKN2A	Pathogenic	9	21971014	21971015	A	ACGGG	criteria provided, single submitter	ClinGen:CA10578836
Deletion	NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs)	CDKN2A	Likely pathogenic	9	21971003	21971018	TCAGCCAGGTCCACGGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656026
Duplication	NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup)	CDKN2A	Pathogenic/Likely pathogenic	9	21971020	21971021	A	AGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA186348
single nucleotide variant	NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly)	CDKN2A	Pathogenic/Likely pathogenic	9	21971024	21971024	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578837

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