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
Duplication	NM_000059.4(BRCA2):c.36dup (p.Glu13Ter)	BRCA2	Pathogenic	13	32890627	32890628	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):264&base_change=ins T,ClinGen:CA018441
Deletion	NM_000059.4(BRCA2):c.370del (p.Met124fs)	BRCA2	Pathogenic	13	32899263	32899263	TA	T	reviewed by expert panel	ClinGen:CA018631
Indel	NM_000059.4(BRCA2):c.3723_3725delinsAT (p.Phe1241fs)	BRCA2	Pathogenic	13	32912215	32912217	TAG	AT	reviewed by expert panel	ClinGen:CA018658
Deletion	NM_000059.4(BRCA2):c.3737del (p.Asn1246fs)	BRCA2	Pathogenic	13	32912228	32912228	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3965&base_change=del A,ClinGen:CA018679
single nucleotide variant	NM_000059.4(BRCA2):c.3748G>T (p.Glu1250Ter)	BRCA2	Pathogenic	13	32912240	32912240	G	T	reviewed by expert panel	ClinGen:CA018710
Duplication	NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)	BRCA2	Pathogenic	13	32912240	32912241	G	GA	reviewed by expert panel	ClinGen:CA018719
Deletion	NM_000059.4(BRCA2):c.3772del (p.Pro1257_Ile1258insTer)	BRCA2	Pathogenic	13	32912263	32912263	CA	C	reviewed by expert panel	ClinGen:CA018776
Deletion	NM_000059.4(BRCA2):c.3773_3774del (p.Ile1258fs)	BRCA2	Pathogenic	13	32912264	32912265	AAT	A	reviewed by expert panel	ClinGen:CA018782
Deletion	NM_000059.4(BRCA2):c.3778_3779del (p.Leu1260fs)	BRCA2	Pathogenic	13	32912269	32912270	GTT	G	reviewed by expert panel	ClinGen:CA018795
single nucleotide variant	NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)	BRCA2	Pathogenic	13	32912277	32912277	C	G	reviewed by expert panel	ClinGen:CA018810