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.3308T>G (p.Leu1103Ter)	BRCA2	Pathogenic	13	32911800	32911800	T	G	reviewed by expert panel	ClinGen:CA017759
Deletion	NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	BRCA2	Pathogenic	13	32912036	32912037	ATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3773&base_change=del TT,ClinGen:CA018299
Deletion	NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)	BRCA2	Pathogenic	13	32912181	32912181	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3917&base_change=del C,ClinGen:CA018587
Deletion	NM_000059.4(BRCA2):c.3717del (p.Lys1239fs)	BRCA2	Pathogenic	13	32912207	32912207	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3945&base_change=del A,ClinGen:CA018654
Deletion	NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)	BRCA2	Pathogenic	13	32912234	32912237	TAGTG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3972&base_change=del TGAG,ClinGen:CA018693
Deletion	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Pathogenic	13	32912338	32912339	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4075&base_change=del GT,ClinGen:CA018922
Duplication	NM_000059.4(BRCA2):c.3848dup (p.Ser1284fs)	BRCA2	Pathogenic	13	32912339	32912340	G	GT	reviewed by expert panel	ClinGen:CA018945
Deletion	NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)	BRCA2	Pathogenic	13	32912354	32912357	TAATA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4093&base_change=del 4,ClinGen:CA019016
single nucleotide variant	NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)	BRCA2	Pathogenic	13	32912414	32912414	G	T	reviewed by expert panel	ClinGen:CA019195
single nucleotide variant	NM_000059.4(BRCA2):c.396T>A (p.Cys132Ter)	BRCA2	Pathogenic	13	32899292	32899292	T	A	reviewed by expert panel	ClinGen:CA019311