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
single nucleotide variant	NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)	BRCA2	Pathogenic	13	32906804	32906804	C	T	reviewed by expert panel	ClinGen:CA10583071
single nucleotide variant	NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)	BRCA2	Pathogenic	13	32910587	32910587	C	T	reviewed by expert panel	ClinGen:CA10583077
single nucleotide variant	NM_000059.4(BRCA2):c.2239G>T (p.Glu747Ter)	BRCA2	Pathogenic	13	32910731	32910731	G	T	reviewed by expert panel	ClinGen:CA10583079
Deletion	NM_000059.4(BRCA2):c.3349del (p.Ile1117fs)	BRCA2	Pathogenic	13	32911841	32911841	TA	T	reviewed by expert panel	ClinGen:CA10583088
Deletion	NM_000059.4(BRCA2):c.3688del (p.Ser1230fs)	BRCA2	Pathogenic	13	32912178	32912178	GT	G	reviewed by expert panel	ClinGen:CA10583093
Insertion	NM_000059.4(BRCA2):c.4007_4008insCATC (p.Asp1337fs)	BRCA2	Pathogenic	13	32912499	32912500	T	TCATC	reviewed by expert panel	ClinGen:CA10583098
Deletion	NM_000059.4(BRCA2):c.4170_4171del (p.Glu1391fs)	BRCA2	Pathogenic	13	32912662	32912663	TGG	T	reviewed by expert panel	ClinGen:CA10583100
single nucleotide variant	NM_000059.4(BRCA2):c.4707C>A (p.Tyr1569Ter)	BRCA2	Pathogenic	13	32913199	32913199	C	A	reviewed by expert panel	ClinGen:CA10583107
Duplication	NM_000059.4(BRCA2):c.6233dup (p.Val2079fs)	BRCA2	Pathogenic	13	32914722	32914723	A	AG	reviewed by expert panel	ClinGen:CA10583118
single nucleotide variant	NM_000059.4(BRCA2):c.6428C>A (p.Ser2143Ter)	BRCA2	Pathogenic	13	32914920	32914920	C	A	reviewed by expert panel	ClinGen:CA10583121