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.334C>G (p.Arg112Gly)	CDKN2A	Pathogenic/Likely pathogenic	9	21971024	21971024	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578837
single nucleotide variant	NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg)	CDKN2A	Pathogenic/Likely pathogenic	9	21974780	21974780	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA350461
single nucleotide variant	NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)	CDKN2A	Pathogenic/Likely pathogenic	9	21970901	21970901	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA337714
single nucleotide variant	NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr)	CDKN2A	Pathogenic/Likely pathogenic	9	21974685	21974685	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA334526
Duplication	NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup)	CDKN2A	Pathogenic/Likely pathogenic	9	21971020	21971021	A	AGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA186348
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
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
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.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.238C>T (p.Arg80Ter)	CDKN2A	Pathogenic/Likely pathogenic	9	21971120	21971120	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120380,OMIM:600160.0002