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.1336del (p.Arg446fs)	BRCA1	Pathogenic	17	41246212	41246212	CT	C	reviewed by expert panel	ClinGen:CA10589947
Deletion	NM_007294.4(BRCA1):c.1333del (p.Glu445fs)	BRCA1	Pathogenic	17	41246215	41246215	TC	T	reviewed by expert panel	ClinGen:CA10589948
Indel	NM_007294.4(BRCA1):c.1303_1309delinsAAAGT (p.Asp435fs)	BRCA1	Pathogenic	17	41246239	41246245	GAGGATC	ACTTT	reviewed by expert panel	ClinGen:CA10589949
Duplication	NM_007294.4(BRCA1):c.1288dup (p.Asp430fs)	BRCA1	Pathogenic	17	41246259	41246260	T	TC	reviewed by expert panel	ClinGen:CA10589950
single nucleotide variant	NM_007294.4(BRCA1):c.1277C>G (p.Ser426Ter)	BRCA1	Pathogenic	17	41246271	41246271	G	C	reviewed by expert panel	ClinGen:CA10589951
single nucleotide variant	NM_007294.4(BRCA1):c.1277C>A (p.Ser426Ter)	BRCA1	Pathogenic	17	41246271	41246271	G	T	reviewed by expert panel	ClinGen:CA10589952
Duplication	NM_007294.4(BRCA1):c.1273dup (p.Ser425fs)	BRCA1	Pathogenic	17	41246274	41246275	G	GA	reviewed by expert panel	ClinGen:CA10589953
single nucleotide variant	NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter)	BRCA1	Pathogenic	17	41246287	41246287	C	A	reviewed by expert panel	ClinGen:CA10589954
Deletion	NM_007294.4(BRCA1):c.1253del (p.Glu418fs)	BRCA1	Pathogenic	17	41246295	41246295	CT	C	reviewed by expert panel	ClinGen:CA10589955
Duplication	NM_007294.4(BRCA1):c.1252dup (p.Glu418fs)	BRCA1	Pathogenic	17	41246295	41246296	T	TC	reviewed by expert panel	ClinGen:CA10589956