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	NG_005905.2:g.(92714_93868)_(172307_?)del	BRCA1	Pathogenic	17	41197694	41277287	na	na	criteria provided, single submitter	-
Indel	NM_007294.3(BRCA1):c.-19-48_80+248delins[U77841.1:g.2145_2536]	BRCA1	Pathogenic	17	41275786	41276180	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.-19-2A>G	BRCA1	Pathogenic	17	41276134	41276134	T	C	criteria provided, single submitter	ClinGen:CA10602608
Deletion	NC_000017.11:g.(?_43082404)_(43124115_?)del	BRCA1	Pathogenic	17	41234421	41276132	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43047643)_(43124115_?)del	BRCA1	Pathogenic	17	41199660	41276132	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43063333)_(43124115_?)del	BRCA1	Pathogenic	17	41215350	41276132	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.-19-?_80+?del	BRCA1	Pathogenic	17	41276034	41276132	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.-19-?_4185+?del	BRCA1	Pathogenic	17	41242961	41276132	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43063868)_(43124102_?)del	BRCA1	Pathogenic	17	41215885	41276119	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43099769)_(43124102_?)del	BRCA1	Pathogenic	17	41251786	41276119	na	na	criteria provided, single submitter	-