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
Duplication	NM_000077.5(CDKN2A):c.45dup (p.Leu16fs)	CDKN2A	Pathogenic	9	21974781	21974782	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369445
single nucleotide variant	NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974780	21974780	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg)	CDKN2A	Pathogenic/Likely pathogenic	9	21974780	21974780	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA350461
single nucleotide variant	NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser)	CDKN2A	Likely pathogenic	9	21974760	21974760	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086621
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
Deletion	NM_000077.5(CDKN2A):c.69del (p.Arg24fs)	CDKN2A	Pathogenic	9	21974758	21974758	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974756	21974756	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA120395,UniProtKB:P42771#VAR_001414,OMIM:600160.0008
single nucleotide variant	NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter)	CDKN2A	Pathogenic	9	21974748	21974748	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086600
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
Duplication	NM_000077.5(CDKN2A):c.106dup (p.Ala36fs)	CDKN2A	Pathogenic	9	21974720	21974721	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA196201