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.2160del (p.Glu720fs)	BRCA1	Pathogenic	17	41245388	41245388	AT	A	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.2022_2023dup (p.Ala675fs)	BRCA1	Pathogenic	17	41245524	41245525	G	GCA	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1889del (p.Asn630fs)	BRCA1	Pathogenic	17	41245659	41245659	AT	A	criteria provided, single submitter	-
Insertion	NM_007294.4(BRCA1):c.1641_1642insG (p.Ile548fs)	BRCA1	Pathogenic/Likely pathogenic	17	41245906	41245907	T	TC	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.1293dup (p.Leu432fs)	BRCA1	Pathogenic	17	41246254	41246255	G	GT	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.931_934dup (p.Gly312fs)	BRCA1	Pathogenic	17	41246613	41246614	C	CCAGG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.513dup (p.Gln172fs)	BRCA1	Pathogenic	17	41251825	41251826	G	GT	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.500_503del (p.Thr167fs)	BRCA1	Pathogenic	17	41251836	41251839	CTTTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41258546	41258546	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)	BRCA1	Likely pathogenic	17	41267745	41267745	G	C	criteria provided, single submitter	-