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.1832C>G (p.Ser611Ter)	BRCA2	Pathogenic	13	32907447	32907447	C	G	reviewed by expert panel	ClinGen:CA501226
single nucleotide variant	NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)	BRCA2	Pathogenic	13	32911679	32911679	C	T	reviewed by expert panel	ClinGen:CA10576940
single nucleotide variant	NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter)	BRCA2	Pathogenic	13	32913143	32913143	C	T	reviewed by expert panel	ClinGen:CA10577473
single nucleotide variant	NM_000059.4(BRCA2):c.5134G>T (p.Gly1712Ter)	BRCA2	Pathogenic	13	32913626	32913626	G	T	reviewed by expert panel	ClinGen:CA10577476
Deletion	NM_000059.4(BRCA2):c.5962del (p.Val1988fs)	BRCA2	Pathogenic	13	32914453	32914453	AG	A	reviewed by expert panel	ClinGen:CA10577479
single nucleotide variant	NM_000059.4(BRCA2):c.9381G>A (p.Trp3127Ter)	BRCA2	Pathogenic	13	32968950	32968950	G	A	reviewed by expert panel	ClinGen:CA10577497
Insertion	NM_000059.4(BRCA2):c.9517_9518insTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCT (p.Cys3173delinsPheTer)	BRCA2	Pathogenic	13	32971049	32971050	T	TTTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTC	criteria provided, single submitter	ClinGen:CA10577501
Deletion	NM_000059.4(BRCA2):c.9588del (p.Asp3197fs)	BRCA2	Pathogenic	13	32971119	32971119	TA	T	reviewed by expert panel	ClinGen:CA10577504
Duplication	NM_000077.5(CDKN2A):c.340_343dup (p.Val115fs)	CDKN2A	Pathogenic	9	21971014	21971015	A	ACGGG	criteria provided, single submitter	ClinGen:CA10578836
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