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
Duplication	NM_000059.4(BRCA2):c.2618dup (p.Thr874fs)	BRCA2	Pathogenic	13	32911109	32911110	A	AT	reviewed by expert panel	ClinGen:CA015865
Deletion	NM_000059.4(BRCA2):c.2692_2696del (p.Glu897_Arg898insTer)	BRCA2	Pathogenic	13	32911181	32911185	TGAAAG	T	reviewed by expert panel	ClinGen:CA016075
Deletion	NM_000059.4(BRCA2):c.2808del (p.Lys936fs)	BRCA2	Pathogenic	13	32911298	32911298	TA	T	reviewed by expert panel	ClinGen:CA016446
Deletion	NM_000059.4(BRCA2):c.3326del (p.Ala1109fs)	BRCA2	Pathogenic	13	32911818	32911818	GC	G	reviewed by expert panel	ClinGen:CA017791
Deletion	NM_000059.4(BRCA2):c.3336del (p.Glu1113fs)	BRCA2	Pathogenic	13	32911828	32911828	CA	C	reviewed by expert panel	ClinGen:CA017804
Duplication	NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs)	BRCA2	Pathogenic	13	32912195	32912196	C	CA	reviewed by expert panel	ClinGen:CA018613
Deletion	NM_000059.4(BRCA2):c.3873del (p.Gln1291fs)	BRCA2	Pathogenic	13	32912364	32912364	CA	C	reviewed by expert panel	ClinGen:CA019049
Deletion	NM_000059.4(BRCA2):c.4000_4001del (p.Leu1334fs)	BRCA2	Pathogenic	13	32912492	32912493	CTT	C	reviewed by expert panel	ClinGen:CA019371
Deletion	NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer)	BRCA2	Pathogenic	13	32912703	32912703	TC	T	reviewed by expert panel	ClinGen:CA019731
single nucleotide variant	NM_000059.4(BRCA2):c.426-2A>G	BRCA2	Pathogenic/Likely pathogenic	13	32900236	32900236	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019852