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.6408_6414del (p.Asn2137fs)	BRCA2	Pathogenic	13	32914898	32914904	CTTAAATG	C	reviewed by expert panel	ClinGen:CA024006
Insertion	NM_000059.4(BRCA2):c.6420_6421insA (p.Gly2141fs)	BRCA2	Pathogenic	13	32914912	32914913	T	TA	reviewed by expert panel	ClinGen:CA024012
Duplication	NM_000059.4(BRCA2):c.6422dup (p.Ser2142fs)	BRCA2	Pathogenic	13	32914912	32914913	T	TG	reviewed by expert panel	ClinGen:CA024016
Deletion	NM_000059.4(BRCA2):c.6428del (p.Ser2142_Ser2143insTer)	BRCA2	Pathogenic	13	32914920	32914920	TC	T	reviewed by expert panel	ClinGen:CA024022
Deletion	NM_000059.4(BRCA2):c.6437_6440del (p.Asn2146fs)	BRCA2	Pathogenic	13	32914928	32914931	TAATC	T	reviewed by expert panel	ClinGen:CA024033
Deletion	NM_000059.4(BRCA2):c.6444_6447del (p.Ile2149fs)	BRCA2	Pathogenic	13	32914936	32914939	CTATT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6672&base_change=del TATT,ClinGen:CA024046
Deletion	NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer)	BRCA2	Pathogenic	13	32914936	32914937	CTA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6673&base_change=del AT,ClinGen:CA024050
Deletion	NM_000059.4(BRCA2):c.6445del (p.Ile2149fs)	BRCA2	Pathogenic	13	32914937	32914937	TA	T	reviewed by expert panel	ClinGen:CA024054
Deletion	NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)	BRCA2	Pathogenic	13	32914937	32914941	TATTAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6674&base_change=del TTAAA,ClinGen:CA024058
Deletion	NM_000059.4(BRCA2):c.6447_6448del (p.Lys2150fs)	BRCA2	Pathogenic	13	32914939	32914940	TTA	T	reviewed by expert panel	ClinGen:CA024060