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
Deletion	NM_000059.4(BRCA2):c.3688del (p.Ser1230fs)	BRCA2	Pathogenic	13	32912178	32912178	GT	G	reviewed by expert panel	ClinGen:CA10583093
Insertion	NM_000059.4(BRCA2):c.4007_4008insCATC (p.Asp1337fs)	BRCA2	Pathogenic	13	32912499	32912500	T	TCATC	reviewed by expert panel	ClinGen:CA10583098
Deletion	NM_000059.4(BRCA2):c.4170_4171del (p.Glu1391fs)	BRCA2	Pathogenic	13	32912662	32912663	TGG	T	reviewed by expert panel	ClinGen:CA10583100
single nucleotide variant	NM_000059.4(BRCA2):c.4707C>A (p.Tyr1569Ter)	BRCA2	Pathogenic	13	32913199	32913199	C	A	reviewed by expert panel	ClinGen:CA10583107
Duplication	NM_000059.4(BRCA2):c.6233dup (p.Val2079fs)	BRCA2	Pathogenic	13	32914722	32914723	A	AG	reviewed by expert panel	ClinGen:CA10583118
single nucleotide variant	NM_000059.4(BRCA2):c.6428C>A (p.Ser2143Ter)	BRCA2	Pathogenic	13	32914920	32914920	C	A	reviewed by expert panel	ClinGen:CA10583121
single nucleotide variant	NM_000059.4(BRCA2):c.7007+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32921034	32921034	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583124
Duplication	NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs)	BRCA2	Pathogenic	13	32929133	32929134	A	AT	reviewed by expert panel	ClinGen:CA6941064
Deletion	NM_000059.4(BRCA2):c.7673del (p.Glu2558fs)	BRCA2	Pathogenic	13	32931934	32931934	GA	G	reviewed by expert panel	ClinGen:CA10583134
Deletion	NM_000059.4(BRCA2):c.8223del (p.Asn2742fs)	BRCA2	Pathogenic	13	32937562	32937562	AG	A	reviewed by expert panel	ClinGen:CA10583139