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.262G>T (p.Glu88Ter)	CDKN2A	Pathogenic	9	21971096	21971096	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602751
single nucleotide variant	NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter)	CDKN2A	Pathogenic	9	21971029	21971029	C	T	criteria provided, single submitter	ClinGen:CA16602750
single nucleotide variant	NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter)	CDKN2A	Pathogenic	9	21971028	21971028	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602749
single nucleotide variant	NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974732	21974732	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582657,UniProtKB:P42771#VAR_001416
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.260G>C (p.Arg87Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21971098	21971098	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582653,UniProtKB:P42771#VAR_001451
single nucleotide variant	NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter)	CDKN2A	Pathogenic	9	21974783	21974783	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578852
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
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
Deletion	NM_000077.5(CDKN2A):c.212del (p.Asn71fs)	CDKN2A	Pathogenic	9	21971146	21971146	GT	G	criteria provided, single submitter	ClinGen:CA10578844