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	NC_000017.10:g.(41228632_41234420)_(41251898_41256138)del	BRCA1	Pathogenic	17	41228632	41256138	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41228632_41234420)_(41276114_?)del	BRCA1	Pathogenic	17	41228632	41276114	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41249307_41251791)_(41251898_41256138)del	BRCA1	Pathogenic	17	41249307	41256138	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41251852_41256215)_(41258551_41267742)del	BRCA1	Pathogenic	17	41251852	41267742	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41258551_41267742)_(41276114_?)del	BRCA1	Pathogenic	17	41258551	41276114	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.1381G>T (p.Glu461Ter)	BRCA2	Pathogenic	13	32906996	32906996	G	T	reviewed by expert panel	ClinGen:CA387762984
Deletion	NM_000059.4(BRCA2):c.4103del (p.Leu1368fs)	BRCA2	Pathogenic	13	32912594	32912594	AT	A	reviewed by expert panel	ClinGen:CA645509345
Deletion	NM_007294.4(BRCA1):c.2090del (p.Phe697fs)	BRCA1	Pathogenic	17	41245458	41245458	GA	G	reviewed by expert panel	ClinGen:CA645509515
Duplication	NM_000059.4(BRCA2):c.342dup (p.Lys115Ter)	BRCA2	Pathogenic	13	32899237	32899238	A	AT	reviewed by expert panel	ClinGen:CA658653661
single nucleotide variant	NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn)	BRCA2	Likely pathogenic	13	32900419	32900419	G	T	criteria provided, single submitter	ClinGen:CA387757750