家族性膵がん - MGenReviews

家族性膵がん

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
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_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.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.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.301G>T (p.Gly101Trp)	CDKN2A	Pathogenic	9	21971057	21971057	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120387,UniProtKB:P42771#VAR_001464,OMIM:600160.0005
single nucleotide variant	NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)	CDKN2A	Likely pathogenic	9	21971062	21971062	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086116
Deletion	NM_000077.5(CDKN2A):c.283del (p.Val95fs)	CDKN2A	Pathogenic	9	21971075	21971075	AC	A	criteria provided, single submitter	ClinGen:CA658656027
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.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.259C>T (p.Arg87Trp)	CDKN2A	Likely pathogenic	9	21971099	21971099	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012197