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.47T>G (p.Leu16Arg)	CDKN2A	Pathogenic/Likely pathogenic	9	21974780	21974780	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA350461
Duplication	NM_000077.5(CDKN2A):c.340_343dup (p.Val115fs)	CDKN2A	Pathogenic	9	21971014	21971015	A	ACGGG	criteria provided, single submitter	ClinGen:CA10578836
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
Deletion	NM_000077.5(CDKN2A):c.175_212del (p.Val59fs)	CDKN2A	Pathogenic	9	21971146	21971183	GTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCAC	G	criteria provided, single submitter	ClinGen:CA10578843
Deletion	NM_000077.5(CDKN2A):c.212del (p.Asn71fs)	CDKN2A	Pathogenic	9	21971146	21971146	GT	G	criteria provided, single submitter	ClinGen:CA10578844
Indel	NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu)	CDKN2A	Likely pathogenic	9	21971155	21971156	GC	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578845
single nucleotide variant	NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)	CDKN2A	Pathogenic/Likely pathogenic	9	21974678	21974678	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578849,UniProtKB:P42771#VAR_001423
single nucleotide variant	NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter)	CDKN2A	Pathogenic	9	21974783	21974783	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578852
single nucleotide variant	NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21971098	21971098	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582653,UniProtKB:P42771#VAR_001451
Deletion	NM_000077.5(CDKN2A):c.150+1del	CDKN2A	Likely pathogenic	9	21974676	21974676	AC	A	criteria provided, single submitter	ClinGen:CA10582656

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