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
Insertion	NM_007294.4(BRCA1):c.1844_1845insG (p.Ser616fs)	BRCA1	Pathogenic	17	41245703	41245704	A	AC	reviewed by expert panel	ClinGen:CA10589916
Deletion	NM_007294.4(BRCA1):c.1820_1823del (p.Lys607fs)	BRCA1	Pathogenic	17	41245725	41245728	CTTTT	C	reviewed by expert panel	ClinGen:CA10589917
Deletion	NM_007294.4(BRCA1):c.1803del (p.His601fs)	BRCA1	Pathogenic	17	41245745	41245745	TG	T	reviewed by expert panel	ClinGen:CA10589918
Deletion	NM_007294.4(BRCA1):c.1795_1798del (p.Asn599fs)	BRCA1	Pathogenic	17	41245750	41245753	ATATT	A	reviewed by expert panel	ClinGen:CA10589919
Deletion	NM_007294.4(BRCA1):c.1779_1785del (p.Met594fs)	BRCA1	Pathogenic	17	41245763	41245769	GTTCCATA	G	reviewed by expert panel	ClinGen:CA10589920
Duplication	NM_007294.4(BRCA1):c.1762dup (p.Ser588fs)	BRCA1	Pathogenic	17	41245785	41245786	C	CT	reviewed by expert panel	ClinGen:CA10589921
Deletion	NM_007294.4(BRCA1):c.1749_1755del (p.Lys583fs)	BRCA1	Pathogenic	17	41245793	41245799	GTTCAGCT	G	reviewed by expert panel	ClinGen:CA10589922
single nucleotide variant	NM_007294.4(BRCA1):c.1723G>T (p.Glu575Ter)	BRCA1	Pathogenic	17	41245825	41245825	C	A	reviewed by expert panel	ClinGen:CA10589923
single nucleotide variant	NM_007294.4(BRCA1):c.1693G>T (p.Glu565Ter)	BRCA1	Pathogenic	17	41245855	41245855	C	A	reviewed by expert panel	ClinGen:CA10589924
Indel	NM_007294.4(BRCA1):c.1637_1685delinsGAAAG (p.Met546fs)	BRCA1	Pathogenic	17	41245863	41245911	ATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA	CTTTC	reviewed by expert panel	ClinGen:CA10589925