膵臓がん・悪性黒色腫症候群

腫瘍性疾患

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.146T>G (p.Ile49Ser)	CDKN2A	Pathogenic/Likely pathogenic	9	21974681	21974681	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086481
single nucleotide variant	NM_000077.5(CDKN2A):c.151-2A>G	CDKN2A	Pathogenic/Likely pathogenic	9	21971209	21971209	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086464
single nucleotide variant	NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)	CDKN2A	Pathogenic/Likely pathogenic	9	21971199	21971199	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA190730408
single nucleotide variant	NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974780	21974780	A	G	criteria provided, multiple submitters, no conflicts	-