膵臓がん・悪性黒色腫症候群

腫瘍性疾患

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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.238C>T (p.Arg80Ter)	CDKN2A	Pathogenic/Likely pathogenic	9	21971120	21971120	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120380,OMIM:600160.0002
Deletion	NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs)	CDKN2A	Pathogenic	9	21971115	21971133	CGGGTCGGGTGAGAGTGGCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299023
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
Deletion	NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)	CDKN2A	Pathogenic	9	21971105	21971118	GCGTCGTGCACGGGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA299024
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
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
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
Deletion	NM_000077.5(CDKN2A):c.283del (p.Val95fs)	CDKN2A	Pathogenic	9	21971075	21971075	AC	A	criteria provided, single submitter	ClinGen:CA658656027
single nucleotide variant	NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)	CDKN2A	Likely pathogenic	9	21971062	21971062	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086116
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