遺伝性乳がん・卵巣がん症候群

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.1017_1018insA (p.Val340fs)	BRCA1	Pathogenic	17	41246530	41246531	C	CT	reviewed by expert panel	ClinGen:CA10589972
Insertion	NM_007294.4(BRCA1):c.1016_1017insC (p.Lys339fs)	BRCA1	Pathogenic	17	41246531	41246532	C	CG	reviewed by expert panel	ClinGen:CA10589973
Deletion	NM_007294.4(BRCA1):c.944_1007del (p.Arg315fs)	BRCA1	Pathogenic	17	41246541	41246604	TGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC	T	reviewed by expert panel	ClinGen:CA10589974
Deletion	NM_007294.4(BRCA1):c.979del (p.Thr327fs)	BRCA1	Pathogenic	17	41246569	41246569	GT	G	reviewed by expert panel	ClinGen:CA10589975
Deletion	NM_007294.4(BRCA1):c.966del (p.Gly323fs)	BRCA1	Pathogenic	17	41246582	41246582	CA	C	reviewed by expert panel	ClinGen:CA10589976
single nucleotide variant	NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter)	BRCA1	Pathogenic	17	41246585	41246585	C	T	reviewed by expert panel	ClinGen:CA10589977
Deletion	NM_007294.4(BRCA1):c.958del (p.Arg320fs)	BRCA1	Pathogenic	17	41246590	41246590	CT	C	reviewed by expert panel	ClinGen:CA10589978
Deletion	NM_007294.4(BRCA1):c.953del (p.His318fs)	BRCA1	Pathogenic	17	41246595	41246595	AT	A	reviewed by expert panel	ClinGen:CA10589979
single nucleotide variant	NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)	BRCA1	Pathogenic	17	41246623	41246623	T	A	reviewed by expert panel	ClinGen:CA10589980
Deletion	NM_007294.4(BRCA1):c.923_924del (p.Ser308fs)	BRCA1	Pathogenic	17	41246624	41246625	TGC	T	reviewed by expert panel	ClinGen:CA10589981