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
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.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.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.377T>A (p.Val126Asp)	CDKN2A	Pathogenic	9	21970981	21970981	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120398,UniProtKB:P42771#VAR_001479,OMIM:600160.0013
single nucleotide variant	NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)	CDKN2A	Pathogenic/Likely pathogenic	9	21971182	21971182	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA120402,UniProtKB:P42771#VAR_001427,OMIM:600160.0016
single nucleotide variant	NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile)	CDKN2A	Pathogenic/Likely pathogenic	9	21971191	21971191	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120412,UniProtKB:P42771#VAR_001425,OMIM:600160.0018
Duplication	NM_000077.5(CDKN2A):c.106dup (p.Ala36fs)	CDKN2A	Pathogenic	9	21974720	21974721	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA196201
single nucleotide variant	NM_058195.4(CDKN2A):c.193+5G>A	CDKN2A	Pathogenic/Likely pathogenic	9	21994133	21994133	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166694
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