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_000059.4(BRCA2):c.5344_5345del (p.Gln1782fs)	BRCA2	Pathogenic	13	32913836	32913837	TCA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5572&base_change=del CA,ClinGen:CA022055
Indel	NM_000059.4(BRCA2):c.5350_5351delinsT (p.Asn1784fs)	BRCA2	Pathogenic	13	32913842	32913843	AA	T	reviewed by expert panel	ClinGen:CA022100
Duplication	NM_000059.4(BRCA2):c.5355dup (p.Ser1786Ter)	BRCA2	Pathogenic	13	32913846	32913847	C	CT	reviewed by expert panel	ClinGen:CA022139
Deletion	NM_000059.4(BRCA2):c.5380del (p.Asn1793_Val1794insTer)	BRCA2	Pathogenic	13	32913872	32913872	TG	T	reviewed by expert panel	ClinGen:CA022173
Deletion	NM_000059.4(BRCA2):c.5389_5390del (p.Ala1797fs)	BRCA2	Pathogenic	13	32913881	32913882	TGC	T	reviewed by expert panel	ClinGen:CA022198
single nucleotide variant	NM_000059.4(BRCA2):c.5404C>T (p.Gln1802Ter)	BRCA2	Pathogenic	13	32913896	32913896	C	T	reviewed by expert panel	ClinGen:CA022246
Deletion	NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs)	BRCA2	Pathogenic	13	32913924	32913927	GAGGA	G	reviewed by expert panel	ClinGen:CA022316
single nucleotide variant	NM_000059.4(BRCA2):c.5434G>T (p.Glu1812Ter)	BRCA2	Pathogenic	13	32913926	32913926	G	T	reviewed by expert panel	ClinGen:CA022320
Deletion	NM_000059.4(BRCA2):c.5439del (p.Leu1813_Val1814insTer)	BRCA2	Pathogenic	13	32913930	32913930	CT	C	reviewed by expert panel	ClinGen:CA022334
Deletion	NM_000059.4(BRCA2):c.5454del (p.Cys1820fs)	BRCA2	Pathogenic	13	32913946	32913946	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5682&base_change=del A,ClinGen:CA022345