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
Deletion	NM_007294.4(BRCA1):c.1779_1785del (p.Met594fs)	BRCA1	Pathogenic	17	41245763	41245769	GTTCCATA	G	reviewed by expert panel	ClinGen:CA10589920
Duplication	NM_007294.4(BRCA1):c.1762dup (p.Ser588fs)	BRCA1	Pathogenic	17	41245785	41245786	C	CT	reviewed by expert panel	ClinGen:CA10589921
Deletion	NM_007294.4(BRCA1):c.1749_1755del (p.Lys583fs)	BRCA1	Pathogenic	17	41245793	41245799	GTTCAGCT	G	reviewed by expert panel	ClinGen:CA10589922
single nucleotide variant	NM_007294.4(BRCA1):c.1723G>T (p.Glu575Ter)	BRCA1	Pathogenic	17	41245825	41245825	C	A	reviewed by expert panel	ClinGen:CA10589923
single nucleotide variant	NM_007294.4(BRCA1):c.1693G>T (p.Glu565Ter)	BRCA1	Pathogenic	17	41245855	41245855	C	A	reviewed by expert panel	ClinGen:CA10589924
Indel	NM_007294.4(BRCA1):c.1637_1685delinsGAAAG (p.Met546fs)	BRCA1	Pathogenic	17	41245863	41245911	ATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA	CTTTC	reviewed by expert panel	ClinGen:CA10589925
Deletion	NM_007294.4(BRCA1):c.1669del (p.Thr557fs)	BRCA1	Pathogenic	17	41245879	41245879	GT	G	reviewed by expert panel	ClinGen:CA10589926
Insertion	NM_007294.4(BRCA1):c.1651_1652insC (p.Ser551fs)	BRCA1	Pathogenic	17	41245896	41245897	C	CG	reviewed by expert panel	ClinGen:CA10589927
Deletion	NM_007294.4(BRCA1):c.1616_1625del (p.Thr539fs)	BRCA1	Pathogenic	17	41245923	41245932	ATTCTGCTCCG	A	reviewed by expert panel	ClinGen:CA10589929
single nucleotide variant	NM_007294.4(BRCA1):c.1618G>T (p.Glu540Ter)	BRCA1	Pathogenic	17	41245930	41245930	C	A	reviewed by expert panel	ClinGen:CA10589930