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
Deletion	NM_000059.4(BRCA2):c.1306_1307del (p.Lys436fs)	BRCA2	Pathogenic	13	32906920	32906921	GAA	G	reviewed by expert panel	ClinGen:CA10585928
single nucleotide variant	NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter)	BRCA2	Pathogenic	13	32907203	32907203	A	T	reviewed by expert panel	ClinGen:CA10585929
Deletion	NM_000059.4(BRCA2):c.1733del (p.Gly578fs)	BRCA2	Pathogenic	13	32907347	32907347	AG	A	reviewed by expert panel	ClinGen:CA10585930
Duplication	NM_000059.4(BRCA2):c.1821dup (p.Asp608fs)	BRCA2	Pathogenic	13	32907433	32907434	G	GA	reviewed by expert panel	ClinGen:CA10585931
Deletion	NM_000059.4(BRCA2):c.4769del (p.Lys1590fs)	BRCA2	Pathogenic	13	32913259	32913259	CA	C	reviewed by expert panel	ClinGen:CA10585932
Insertion	NM_000059.4(BRCA2):c.5379_5380insTT (p.Val1794fs)	BRCA2	Pathogenic	13	32913870	32913871	A	ATT	reviewed by expert panel	ClinGen:CA10585933
Indel	NM_000059.3(BRCA2):c.7508_7521delinsG (p.Val2503fs)	BRCA2	Pathogenic	13	32930637	32930650	TCTTTCCACAGCCA	G	reviewed by expert panel	ClinGen:CA10585934
Deletion	NM_000059.4(BRCA2):c.7914del (p.Pro2639fs)	BRCA2	Pathogenic	13	32936766	32936766	CT	C	reviewed by expert panel	ClinGen:CA10585935
Deletion	NM_000059.4(BRCA2):c.7919_7928del (p.Lys2640fs)	BRCA2	Pathogenic	13	32936773	32936782	AAGGAATTTGC	A	reviewed by expert panel	ClinGen:CA10585936
Deletion	NM_007294.4(BRCA1):c.3132del (p.Asn1045fs)	BRCA1	Pathogenic	17	41244416	41244416	TA	T	reviewed by expert panel	ClinGen:CA10585939