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.179C>A (p.Ala60Glu)	CDKN2A	Likely pathogenic	9	21971179	21971179	G	T	criteria provided, single submitter	ClinGen:CA194216
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
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.150+1del	CDKN2A	Likely pathogenic	9	21974676	21974676	AC	A	criteria provided, single submitter	ClinGen:CA10582656
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_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.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.67G>A (p.Gly23Ser)	CDKN2A	Likely pathogenic	9	21974760	21974760	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086621
Indel	NM_000077.5(CDKN2A):c.381_393delinsGATGCG (p.Arg128fs)	CDKN2A	Likely pathogenic	9	21970965	21970977	GCGCAGGTACCGT	CGCATC	criteria provided, single submitter	ClinGen:CA658656022
Deletion	NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs)	CDKN2A	Likely pathogenic	9	21971003	21971018	TCAGCCAGGTCCACGGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656026