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.7878G>C (p.Trp2626Cys)	BRCA2	Pathogenic	13	32936732	32936732	G	C	reviewed by expert panel	ClinGen:CA025319
Deletion	NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)	BRCA2	Pathogenic	13	32936764	32936768	GCCTTT	G	reviewed by expert panel	ClinGen:CA025328,Breast Cancer Information Core (BIC) (BRCA2):8138&base_change=del CCTTT,Breast Cancer Information Core (BIC) (BRCA2):8141&base_change=del TTCCT
single nucleotide variant	NM_000059.4(BRCA2):c.7963C>T (p.Gln2655Ter)	BRCA2	Pathogenic	13	32936817	32936817	C	T	reviewed by expert panel	ClinGen:CA025356
single nucleotide variant	NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter)	BRCA2	Pathogenic	13	32936828	32936828	C	G	reviewed by expert panel	ClinGen:CA025361
single nucleotide variant	NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)	BRCA2	Pathogenic	13	32936829	32936829	A	G	reviewed by expert panel	ClinGen:CA025362
single nucleotide variant	NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)	BRCA2	Pathogenic	13	32936830	32936830	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025368
single nucleotide variant	NM_000059.4(BRCA2):c.7977-1G>C	BRCA2	Pathogenic	13	32937315	32937315	G	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8205-1&base_change=G to C,ClinGen:CA025372
single nucleotide variant	NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)	BRCA2	Pathogenic/Likely pathogenic	13	32937402	32937402	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025432
single nucleotide variant	NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)	BRCA2	Pathogenic	13	32937507	32937507	A	G	reviewed by expert panel	ClinGen:CA025484
Deletion	NM_000059.4(BRCA2):c.8205_8206del (p.Leu2737fs)	BRCA2	Pathogenic	13	32937542	32937543	TCC	T	reviewed by expert panel	ClinGen:CA025511