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.3291dup (p.Asn1098Ter)	BRCA2	Pathogenic	13	32911779	32911780	A	AT	reviewed by expert panel	ClinGen:CA273052
Deletion	NM_000059.4(BRCA2):c.3641del (p.Val1214fs)	BRCA2	Pathogenic	13	32912133	32912133	GT	G	reviewed by expert panel	ClinGen:CA018454
single nucleotide variant	NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)	BRCA1	Pathogenic	17	41228521	41228521	C	A	reviewed by expert panel	ClinGen:CA002864
single nucleotide variant	NM_007294.4(BRCA1):c.4358-2786G>A	BRCA1	Likely pathogenic	17	41231417	41231417	C	T	criteria provided, single submitter	ClinGen:CA002798
Deletion	NM_007294.4(BRCA1):c.5133del (p.Lys1711fs)	BRCA1	Pathogenic	17	41215910	41215910	AT	A	reviewed by expert panel	ClinGen:CA003259
Indel	NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs)	BRCA1	Pathogenic	17	41223093	41223094	CT	GGC	reviewed by expert panel	ClinGen:CA003043
single nucleotide variant	NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)	BRCA2	Pathogenic/Likely pathogenic	13	32900636	32900636	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021599
Duplication	NM_000059.4(BRCA2):c.670_673dup (p.Thr225fs)	BRCA2	Pathogenic	13	32903617	32903618	T	TGATA	reviewed by expert panel	ClinGen:CA024350
Duplication	NM_000059.4(BRCA2):c.2380dup (p.Met794fs)	BRCA2	Pathogenic	13	32910868	32910869	C	CA	reviewed by expert panel	ClinGen:CA015082
Deletion	NM_000059.4(BRCA2):c.3010del (p.Ser1004fs)	BRCA2	Pathogenic	13	32911502	32911502	CA	C	reviewed by expert panel	ClinGen:CA017044