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
Duplication	NM_007294.4(BRCA1):c.2086dup (p.Thr696fs)	BRCA1	Pathogenic	17	41245461	41245462	G	GT	reviewed by expert panel	ClinGen:CA10589896
Duplication	NM_007294.4(BRCA1):c.2080dup (p.Ser694fs)	BRCA1	Pathogenic	17	41245467	41245468	C	CT	reviewed by expert panel	ClinGen:CA10589897
Insertion	NM_007294.4(BRCA1):c.2078_2079insTA (p.Ser694fs)	BRCA1	Pathogenic	17	41245469	41245470	G	GTA	reviewed by expert panel	ClinGen:CA10589898
Indel	NM_007294.4(BRCA1):c.2077delinsATA (p.Asp693fs)	BRCA1	Pathogenic	17	41245471	41245471	C	TAT	reviewed by expert panel	ClinGen:CA10589899
single nucleotide variant	NM_007294.4(BRCA1):c.2068A>T (p.Lys690Ter)	BRCA1	Pathogenic	17	41245480	41245480	T	A	reviewed by expert panel	ClinGen:CA10589900
Duplication	NM_007294.4(BRCA1):c.2012dup (p.Gly671_Lys672insTer)	BRCA1	Pathogenic	17	41245535	41245536	A	AC	reviewed by expert panel	ClinGen:CA10589901
Deletion	NM_007294.4(BRCA1):c.1978del (p.Val660fs)	BRCA1	Pathogenic	17	41245570	41245570	AC	A	reviewed by expert panel	ClinGen:CA10589902
single nucleotide variant	NM_007294.4(BRCA1):c.1965C>A (p.Tyr655Ter)	BRCA1	Pathogenic	17	41245583	41245583	G	T	reviewed by expert panel	ClinGen:CA10589903
Deletion	NM_007294.4(BRCA1):c.1953del (p.Lys654fs)	BRCA1	Pathogenic	17	41245595	41245595	TC	T	reviewed by expert panel	ClinGen:CA10589904
Deletion	NM_007294.4(BRCA1):c.1949_1952del (p.Ile650fs)	BRCA1	Pathogenic	17	41245596	41245599	CTTTA	C	reviewed by expert panel	ClinGen:CA10589905