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.342del (p.Pro115fs)	BRCA1	Pathogenic	17	41256238	41256238	GA	G	reviewed by expert panel	ClinGen:CA10590020
Deletion	NM_007294.4(BRCA1):c.335del (p.Asn112fs)	BRCA1	Pathogenic	17	41256245	41256245	AT	A	reviewed by expert panel	ClinGen:CA10590021
Insertion	NM_007294.4(BRCA1):c.330_331insA (p.Glu111fs)	BRCA1	Pathogenic	17	41256249	41256250	C	CT	reviewed by expert panel	ClinGen:CA10590022
Deletion	NM_007294.4(BRCA1):c.331del (p.Glu111fs)	BRCA1	Pathogenic	17	41256249	41256249	TC	T	reviewed by expert panel	ClinGen:CA10590023
Deletion	NM_007294.4(BRCA1):c.310del (p.Ser104fs)	BRCA1	Pathogenic	17	41256270	41256270	CT	C	reviewed by expert panel	ClinGen:CA10590024
single nucleotide variant	NM_007294.4(BRCA1):c.303T>A (p.Tyr101Ter)	BRCA1	Pathogenic	17	41256277	41256277	A	T	reviewed by expert panel	ClinGen:CA10590025
single nucleotide variant	NM_007294.4(BRCA1):c.260T>A (p.Leu87Ter)	BRCA1	Pathogenic	17	41256926	41256926	A	T	reviewed by expert panel	ClinGen:CA10590026
Deletion	NM_007294.4(BRCA1):c.246del (p.Val83fs)	BRCA1	Pathogenic	17	41256940	41256940	CA	C	reviewed by expert panel	ClinGen:CA10590027
Indel	NM_007294.4(BRCA1):c.239_241delinsTT (p.Ser80fs)	BRCA1	Pathogenic	17	41256945	41256947	GAC	AA	reviewed by expert panel	ClinGen:CA10590028
Deletion	NM_007294.4(BRCA1):c.237del (p.Phe79fs)	BRCA1	Pathogenic	17	41256949	41256949	TA	T	reviewed by expert panel	ClinGen:CA10590029