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.4808dup (p.Asn1603fs)	BRCA2	Pathogenic	13	32913295	32913296	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5036&base_change=ins A,ClinGen:CA020855
Duplication	NM_000059.4(BRCA2):c.4828dup (p.Val1610fs)	BRCA2	Pathogenic	13	32913319	32913320	T	TG	reviewed by expert panel	ClinGen:CA020877
Deletion	NM_000059.4(BRCA2):c.4848_4849del (p.Leu1616_Ser1617insTer)	BRCA2	Pathogenic	13	32913340	32913341	TAA	T	reviewed by expert panel	ClinGen:CA020906
single nucleotide variant	NM_000059.4(BRCA2):c.4859T>G (p.Leu1620Ter)	BRCA2	Pathogenic	13	32913351	32913351	T	G	reviewed by expert panel	ClinGen:CA020929
single nucleotide variant	NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter)	BRCA2	Pathogenic	13	32913381	32913381	C	A	reviewed by expert panel	ClinGen:CA020952
single nucleotide variant	NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)	BRCA2	Pathogenic	13	32913381	32913381	C	G	reviewed by expert panel	ClinGen:CA020955
Deletion	NM_000059.4(BRCA2):c.488_489del (p.Ser163fs)	BRCA2	Pathogenic	13	32900391	32900392	AGT	A	reviewed by expert panel	ClinGen:CA020947
Deletion	NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs)	BRCA2	Pathogenic	13	32913386	32913387	AAG	A	reviewed by expert panel	ClinGen:CA020961
Deletion	NM_000059.4(BRCA2):c.4917del (p.His1640fs)	BRCA2	Pathogenic	13	32913409	32913409	TA	T	reviewed by expert panel	ClinGen:CA021003
single nucleotide variant	NM_000059.4(BRCA2):c.491T>A (p.Leu164Ter)	BRCA2	Pathogenic	13	32900394	32900394	T	A	reviewed by expert panel	ClinGen:CA021006