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.149A>G (p.Gln50Arg)	CDKN2A	Pathogenic/Likely pathogenic	9	21974678	21974678	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578849,UniProtKB:P42771#VAR_001423
single nucleotide variant	NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro)	CDKN2A	Likely pathogenic	9	21974678	21974678	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA198385
Deletion	NM_000077.5(CDKN2A):c.150+1del	CDKN2A	Likely pathogenic	9	21974676	21974676	AC	A	criteria provided, single submitter	ClinGen:CA10582656
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.151-2A>G	CDKN2A	Pathogenic/Likely pathogenic	9	21971209	21971209	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086464
single nucleotide variant	NM_000077.5(CDKN2A):c.151-1G>A	CDKN2A	Pathogenic	9	21971208	21971208	C	T	criteria provided, multiple submitters, no conflicts	-
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.151-1G>C	CDKN2A	Pathogenic	9	21971208	21971208	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA299032
single nucleotide variant	NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)	CDKN2A	Pathogenic/Likely pathogenic	9	21971199	21971199	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA190730408
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