家族性膵がん - MGenReviews

家族性膵がん

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_007294.4(BRCA1):c.4243G>T (p.Glu1415Ter)	BRCA1	Pathogenic	17	41234535	41234535	C	A	reviewed by expert panel	ClinGen:CA10593235
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_000059.4(BRCA2):c.4226T>A (p.Leu1409Ter)	BRCA2	Pathogenic	13	32912718	32912718	T	A	reviewed by expert panel	ClinGen:CA16606423
single nucleotide variant	NM_000059.4(BRCA2):c.4354C>T (p.Gln1452Ter)	BRCA2	Pathogenic	13	32912846	32912846	C	T	reviewed by expert panel	ClinGen:CA16606424
single nucleotide variant	NM_024675.4(PALB2):c.1448C>G (p.Ser483Ter)	PALB2	Pathogenic	16	23646419	23646419	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607001
single nucleotide variant	NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter)	PALB2	Pathogenic	16	23646429	23646429	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607220

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