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.7976G>C (p.Arg2659Thr)	BRCA2	Pathogenic	13	32936830	32936830	G	C	reviewed by expert panel	ClinGen:CA025369
Deletion	NM_000059.4(BRCA2):c.7977-2del	BRCA2	Pathogenic	13	32937314	32937314	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025375
single nucleotide variant	NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)	BRCA2	Pathogenic/Likely pathogenic	13	32937317	32937317	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025377
single nucleotide variant	NM_000059.4(BRCA2):c.7980T>G (p.Tyr2660Ter)	BRCA2	Pathogenic	13	32937319	32937319	T	G	reviewed by expert panel	ClinGen:CA025381
Deletion	NM_000059.3(BRCA2):c.7980_7984delTGATA	BRCA2	Pathogenic	13	32937315	32937319	AGATAT	A	reviewed by expert panel	ClinGen:CA025379
single nucleotide variant	NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)	BRCA2	Pathogenic/Likely pathogenic	13	32937326	32937326	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025384
single nucleotide variant	NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)	BRCA2	Pathogenic	13	32937327	32937327	A	T	reviewed by expert panel	ClinGen:CA025385
single nucleotide variant	NM_000059.4(BRCA2):c.7996A>T (p.Arg2666Ter)	BRCA2	Pathogenic	13	32937335	32937335	A	T	reviewed by expert panel	ClinGen:CA025391
single nucleotide variant	NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)	BRCA2	Pathogenic	13	32937341	32937341	A	T	reviewed by expert panel	ClinGen:CA025396
Duplication	NM_000059.4(BRCA2):c.8002_8008dup (p.Ser2670Ter)	BRCA2	Pathogenic	13	32937340	32937341	C	CAGAAGAT	reviewed by expert panel	ClinGen:CA025399