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_007294.4(BRCA1):c.848_879del (p.Ser282_Leu283insTer)	BRCA1	Pathogenic	17	41246669	41246700	TAGTGAGTAATAAACTGCTGTTCTCATGCTGTA	T	reviewed by expert panel	ClinGen:CA10588656
Indel	NM_000059.3(BRCA2):c.48_50delinsATCGATCGAT (p.Thr17fs)	BRCA2	Pathogenic	13	32890645	32890647	GAC	ATCGATCGAT	reviewed by expert panel	ClinGen:CA10589001
Duplication	NM_000059.4(BRCA2):c.48dup (p.Thr17fs)	BRCA2	Pathogenic	13	32890644	32890645	A	AG	reviewed by expert panel	ClinGen:CA10589002
Deletion	NM_000059.4(BRCA2):c.52_61del (p.Arg18fs)	BRCA2	Pathogenic	13	32890646	32890655	GACACGCTGCA	G	reviewed by expert panel	ClinGen:CA10589003
single nucleotide variant	NM_000059.4(BRCA2):c.71T>G (p.Leu24Ter)	BRCA2	Pathogenic	13	32893217	32893217	T	G	reviewed by expert panel	ClinGen:CA10589004
single nucleotide variant	NM_000059.4(BRCA2):c.73G>T (p.Gly25Ter)	BRCA2	Pathogenic	13	32893219	32893219	G	T	reviewed by expert panel	ClinGen:CA10589005
Duplication	NM_000059.4(BRCA2):c.103dup (p.Leu35fs)	BRCA2	Pathogenic	13	32893248	32893249	A	AC	reviewed by expert panel	ClinGen:CA10589006
Deletion	NM_000059.4(BRCA2):c.104_110del (p.Leu35fs)	BRCA2	Pathogenic	13	32893249	32893255	ACTTTCTT	A	reviewed by expert panel	ClinGen:CA10589007
Deletion	NM_000059.4(BRCA2):c.109_112del (p.Ser37fs)	BRCA2	Pathogenic	13	32893255	32893258	TTCAG	T	reviewed by expert panel	ClinGen:CA10589008
single nucleotide variant	NM_000059.4(BRCA2):c.110C>A (p.Ser37Ter)	BRCA2	Pathogenic	13	32893256	32893256	C	A	reviewed by expert panel	ClinGen:CA10589009