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.37G>T (p.Glu13Ter)	BRCA2	Pathogenic	13	32890634	32890634	G	T	reviewed by expert panel	ClinGen:CA018834
Deletion	NM_000059.4(BRCA2):c.37_44del (p.Phe12_Glu13insTer)	BRCA2	Pathogenic	13	32890630	32890637	TTTTTGAAA	T	reviewed by expert panel	ClinGen:CA018705
single nucleotide variant	NM_000059.4(BRCA2):c.3812C>A (p.Ser1271Ter)	BRCA2	Pathogenic	13	32912304	32912304	C	A	reviewed by expert panel	ClinGen:CA018857
Deletion	NM_000059.4(BRCA2):c.3824_3827del (p.Ile1275fs)	BRCA2	Pathogenic	13	32912313	32912316	AAGAT	A	reviewed by expert panel	ClinGen:CA018874
Deletion	NM_000059.4(BRCA2):c.3830del (p.Asn1277fs)	BRCA2	Pathogenic	13	32912319	32912319	GA	G	reviewed by expert panel	ClinGen:CA018884
Deletion	NM_000059.4(BRCA2):c.3836del (p.Asn1279fs)	BRCA2	Pathogenic	13	32912327	32912327	TA	T	reviewed by expert panel	ClinGen:CA018897
Deletion	NM_000059.4(BRCA2):c.3837del (p.Asn1279fs)	BRCA2	Pathogenic	13	32912329	32912329	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4065&base_change=del T,ClinGen:CA018900
Deletion	NM_000059.4(BRCA2):c.3847del (p.Thr1282_Val1283insTer)	BRCA2	Pathogenic	13	32912339	32912339	TG	T	reviewed by expert panel	ClinGen:CA018939
Deletion	NM_000059.4(BRCA2):c.3849_3852del (p.Ser1284fs)	BRCA2	Pathogenic	13	32912339	32912342	TGTAA	T	reviewed by expert panel	ClinGen:CA018955
Deletion	NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer)	BRCA2	Pathogenic	13	32912346	32912347	GAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4087&base_change=del AA,ClinGen:CA018979