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.6944_6947del (p.Ile2315fs)	BRCA2	Pathogenic	13	32920968	32920971	CAATA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7172&base_change=del TAAA,ClinGen:CA024608
single nucleotide variant	NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)	BRCA2	Pathogenic	13	32920978	32920978	C	T	reviewed by expert panel	ClinGen:CA024619
single nucleotide variant	NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	BRCA2	Pathogenic	13	32921033	32921033	G	A	reviewed by expert panel	ClinGen:CA024713,OMIM:600185.0020
Deletion	NM_000059.4(BRCA2):c.700del (p.Ser234fs)	BRCA2	Pathogenic	13	32905070	32905070	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):924&base_change=del T,Breast Cancer Information Core (BIC) (BRCA2):928&base_change=del T,ClinGen:CA024654
Deletion	NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)	BRCA2	Pathogenic	13	32929058	32929059	TTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7297&base_change=del CT,ClinGen:CA024835
single nucleotide variant	NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)	BRCA2	Pathogenic	13	32929123	32929123	C	G	reviewed by expert panel	ClinGen:CA024895
Indel	NM_000059.3(BRCA2):c.7185_7190delinsAG (p.His2395fs)	BRCA2	Pathogenic	13	32929175	32929180	CTTGAT	AG	reviewed by expert panel	ClinGen:CA024935
single nucleotide variant	NM_000059.4(BRCA2):c.7258G>T (p.Glu2420Ter)	BRCA2	Pathogenic	13	32929248	32929248	G	T	reviewed by expert panel	ClinGen:CA025002
Deletion	NM_000059.4(BRCA2):c.7342_7343del (p.Lys2448fs)	BRCA2	Pathogenic	13	32929332	32929333	TAA	T	reviewed by expert panel	ClinGen:CA025036
Deletion	NM_000059.4(BRCA2):c.7379_7382del (p.Asn2460fs)	BRCA2	Pathogenic	13	32929367	32929370	AAAAC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7607&base_change=del ACAA,ClinGen:CA025048