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
single nucleotide variant	NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)	BRCA2	Pathogenic	13	32905086	32905086	G	T	reviewed by expert panel	ClinGen:CA024893
Deletion	NM_000059.4(BRCA2):c.5390del (p.Ala1797fs)	BRCA2	Pathogenic	13	32913882	32913882	GC	G	reviewed by expert panel	ClinGen:CA022210
single nucleotide variant	NM_000059.4(BRCA2):c.7266T>A (p.Cys2422Ter)	BRCA2	Pathogenic	13	32929256	32929256	T	A	reviewed by expert panel	ClinGen:CA025006
Indel	NM_007294.4(BRCA1):c.5167delinsTTT (p.Ile1723fs)	BRCA1	Pathogenic	17	41215376	41215376	T	AAA	reviewed by expert panel	ClinGen:CA273776
single nucleotide variant	NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41219642	41219642	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003177,UniProtKB:P38398#VAR_070498
single nucleotide variant	NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter)	BRCA1	Pathogenic	17	41219701	41219701	G	T	reviewed by expert panel	ClinGen:CA003146
single nucleotide variant	NM_007294.4(BRCA1):c.3511A>T (p.Lys1171Ter)	BRCA1	Pathogenic	17	41244037	41244037	T	A	reviewed by expert panel	ClinGen:CA002255
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.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