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.95T>C (p.Leu32Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974732	21974732	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582657,UniProtKB:P42771#VAR_001416
single nucleotide variant	NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter)	CDKN2A	Pathogenic	9	21971028	21971028	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602749
single nucleotide variant	NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter)	CDKN2A	Pathogenic	9	21971029	21971029	C	T	criteria provided, single submitter	ClinGen:CA16602750
single nucleotide variant	NM_000077.5(CDKN2A):c.262G>T (p.Glu88Ter)	CDKN2A	Pathogenic	9	21971096	21971096	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602751
single nucleotide variant	NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter)	CDKN2A	Pathogenic	9	21971186	21971186	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602756
single nucleotide variant	NM_000077.5(CDKN2A):c.249C>G (p.His83Gln)	CDKN2A	Pathogenic	9	21971109	21971109	G	C	criteria provided, single submitter	ClinGen:CA16602820
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
Deletion	NM_000077.5(CDKN2A):c.358del (p.Glu120fs)	CDKN2A	Pathogenic	9	21971000	21971000	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612781
single nucleotide variant	NM_058195.4(CDKN2A):c.193+1G>A	CDKN2A	Pathogenic	9	21994137	21994137	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612794,OMIM:600160.0020
single nucleotide variant	NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)	CDKN2A	Likely pathogenic	9	21971099	21971099	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012197

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