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.68G>A (p.Gly23Asp)	CDKN2A	Pathogenic/Likely pathogenic	9	21974759	21974759	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618835
single nucleotide variant	NM_000077.5(CDKN2A):c.151-1G>T	CDKN2A	Pathogenic/Likely pathogenic	9	21971208	21971208	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618833
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
single nucleotide variant	NM_000077.5(CDKN2A):c.150+2T>C	CDKN2A	Likely pathogenic	9	21974675	21974675	A	G	criteria provided, single submitter	ClinGen:CA16612864
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_058195.4(CDKN2A):c.193+1G>A	CDKN2A	Pathogenic	9	21994137	21994137	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612794,OMIM:600160.0020
Deletion	NM_000077.5(CDKN2A):c.358del (p.Glu120fs)	CDKN2A	Pathogenic	9	21971000	21971000	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612781
single nucleotide variant	NM_000077.5(CDKN2A):c.458-105A>G	CDKN2A	Pathogenic/Likely pathogenic	9	21968346	21968346	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612773,OMIM:600160.0014
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
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