遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.8938A>T (p.Lys2980Ter)	BRCA2	Pathogenic	13	32953637	32953637	A	T	reviewed by expert panel	ClinGen:CA10589527
single nucleotide variant	NM_000059.4(BRCA2):c.8941G>T (p.Glu2981Ter)	BRCA2	Pathogenic	13	32953640	32953640	G	T	reviewed by expert panel	ClinGen:CA10589528
Deletion	NM_000059.4(BRCA2):c.8941_8942del (p.Glu2981fs)	BRCA2	Pathogenic	13	32953639	32953640	AAG	A	reviewed by expert panel	ClinGen:CA10589529
Deletion	NM_000059.4(BRCA2):c.8941del (p.Glu2981fs)	BRCA2	Pathogenic	13	32953640	32953640	AG	A	reviewed by expert panel	ClinGen:CA10589530
Duplication	NM_000059.4(BRCA2):c.8947dup (p.Asp2983fs)	BRCA2	Pathogenic	13	32953645	32953646	A	AG	reviewed by expert panel	ClinGen:CA10589531
single nucleotide variant	NM_000059.4(BRCA2):c.8951C>A (p.Ser2984Ter)	BRCA2	Pathogenic	13	32953650	32953650	C	A	reviewed by expert panel	ClinGen:CA10589532
Deletion	NM_000059.4(BRCA2):c.8959_8962del (p.Leu2987fs)	BRCA2	Pathogenic	13	32953891	32953894	TACTG	T	reviewed by expert panel	ClinGen:CA10589533
Deletion	NM_000059.4(BRCA2):c.8965del (p.Ile2989fs)	BRCA2	Pathogenic	13	32953898	32953898	TA	T	reviewed by expert panel	ClinGen:CA10589534
Insertion	NM_000059.4(BRCA2):c.8986_8987insAGAT (p.Leu2996Ter)	BRCA2	Pathogenic	13	32953918	32953919	T	TTAGA	reviewed by expert panel	ClinGen:CA10589535
Deletion	NM_000059.4(BRCA2):c.8993_9024del (p.Ser2998fs)	BRCA2	Pathogenic	13	32953923	32953954	TATTCTCTGTTAACAGAAGGAAAGAGATACAGA	T	reviewed by expert panel	ClinGen:CA10589536