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.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.172C>T (p.Arg58Ter)	CDKN2A	Pathogenic	9	21971186	21971186	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602756
Deletion	NM_000077.5(CDKN2A):c.175_212del (p.Val59fs)	CDKN2A	Pathogenic	9	21971146	21971183	GTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCAC	G	criteria provided, single submitter	ClinGen:CA10578843
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.179C>A (p.Ala60Glu)	CDKN2A	Likely pathogenic	9	21971179	21971179	G	T	criteria provided, single submitter	ClinGen:CA194216
Deletion	NM_000077.5(CDKN2A):c.189del (p.Leu64fs)	CDKN2A	Pathogenic	9	21971169	21971169	GC	G	criteria provided, single submitter	-
Duplication	NM_000077.5(CDKN2A):c.197dup (p.His66fs)	CDKN2A	Pathogenic	9	21971160	21971161	G	GT	criteria provided, single submitter	-
Indel	NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu)	CDKN2A	Likely pathogenic	9	21971155	21971156	GC	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578845
single nucleotide variant	NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser)	CDKN2A	Likely pathogenic	9	21971146	21971146	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012207
Deletion	NM_000077.5(CDKN2A):c.212del (p.Asn71fs)	CDKN2A	Pathogenic	9	21971146	21971146	GT	G	criteria provided, single submitter	ClinGen:CA10578844