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.7115C>G (p.Ser2372Ter)	BRCA2	Pathogenic	13	32929105	32929105	C	G	reviewed by expert panel	ClinGen:CA024881
Deletion	NM_000059.4(BRCA2):c.7151_7152del (p.Gln2384fs)	BRCA2	Pathogenic	13	32929141	32929142	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7379&base_change=del AA,ClinGen:CA024907
Duplication	NM_000059.4(BRCA2):c.7156dup (p.Ser2386fs)	BRCA2	Pathogenic	13	32929143	32929144	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7384&base_change=ins T,ClinGen:CA024911
Deletion	NM_000059.4(BRCA2):c.7166del (p.Arg2389fs)	BRCA2	Pathogenic	13	32929156	32929156	AG	A	reviewed by expert panel	ClinGen:CA024917
Duplication	NM_000059.4(BRCA2):c.7177dup (p.Met2393fs)	BRCA2	Pathogenic	13	32929161	32929162	G	GA	reviewed by expert panel	ClinGen:CA024922
single nucleotide variant	NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)	BRCA2	Pathogenic	13	32929170	32929170	A	T	reviewed by expert panel	ClinGen:CA024928
Deletion	NM_000059.4(BRCA2):c.7183del (p.His2395fs)	BRCA2	Pathogenic	13	32929173	32929173	AC	A	reviewed by expert panel	ClinGen:CA024933
Duplication	NM_000059.4(BRCA2):c.7187dup (p.Leu2396fs)	BRCA2	Pathogenic	13	32929175	32929176	C	CT	reviewed by expert panel	ClinGen:CA024940
single nucleotide variant	NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter)	BRCA2	Pathogenic	13	32893217	32893217	T	A	reviewed by expert panel	ClinGen:CA024957
Deletion	NM_000059.4(BRCA2):c.71del (p.Asp23_Leu24insTer)	BRCA2	Pathogenic	13	32893215	32893215	AT	A	reviewed by expert panel	ClinGen:CA024955