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.71G>C (p.Arg24Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974756	21974756	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA120395,UniProtKB:P42771#VAR_001414,OMIM:600160.0008
single nucleotide variant	NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile)	CDKN2A	Pathogenic	9	21971199	21971199	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA120391,UniProtKB:P42771#VAR_001424,OMIM:600160.0007
single nucleotide variant	NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)	CDKN2A	Pathogenic	9	21971057	21971057	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120387,UniProtKB:P42771#VAR_001464,OMIM:600160.0005
single nucleotide variant	NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter)	CDKN2A	Pathogenic/Likely pathogenic	9	21971120	21971120	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120380,OMIM:600160.0002