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	NC_000013.11:g.(?_32316422)_(32355288_?)del	BRCA2	Pathogenic	13	32890559	32929425	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.203_218del (p.Lys68fs)	BRCA2	Pathogenic	13	32893348	32893363	GAAACCATCTTATAATC	G	reviewed by expert panel	ClinGen:CA16613896
Deletion	NM_000059.4(BRCA2):c.471del (p.Lys157fs)	BRCA2	Pathogenic	13	32900283	32900283	AG	A	reviewed by expert panel	ClinGen:CA16613909
single nucleotide variant	NM_000059.4(BRCA2):c.681+1G>T	BRCA2	Pathogenic	13	32903630	32903630	G	T	criteria provided, single submitter	ClinGen:CA16613912
Indel	NM_000059.3(BRCA2):c.898_900delinsTT (p.Val300fs)	BRCA2	Pathogenic	13	32906513	32906515	GTA	TT	reviewed by expert panel	ClinGen:CA16613922
Deletion	NM_000059.4(BRCA2):c.7819del (p.Thr2607fs)	BRCA2	Pathogenic	13	32936673	32936673	CA	C	reviewed by expert panel	ClinGen:CA16613949
Duplication	NM_000059.4(BRCA2):c.8426dup (p.Ser2810fs)	BRCA2	Pathogenic	13	32944629	32944630	C	CT	reviewed by expert panel	ClinGen:CA16613965
Deletion	NM_000059.4(BRCA2):c.4273del (p.Asp1425fs)	BRCA2	Pathogenic	13	32912765	32912765	TG	T	reviewed by expert panel	ClinGen:CA16613968
Insertion	NM_000059.4(BRCA2):c.9311_9312insTTAT (p.Lys3104fs)	BRCA2	Pathogenic	13	32968880	32968881	A	ATTAT	criteria provided, single submitter	ClinGen:CA16613975
Deletion	NM_000059.4(BRCA2):c.7447del (p.Ser2483fs)	BRCA2	Pathogenic	13	32930575	32930575	CA	C	reviewed by expert panel	ClinGen:CA16614002