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_007294.4(BRCA1):c.4976del (p.Pro1659fs)	BRCA1	Pathogenic	17	41222955	41222955	TG	T	reviewed by expert panel	ClinGen:CA10585909
single nucleotide variant	NM_007294.4(BRCA1):c.4675+2T>G	BRCA1	Pathogenic/Likely pathogenic	17	41226346	41226346	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585910
Duplication	NM_007294.4(BRCA1):c.4389_4392dup (p.Ile1465fs)	BRCA1	Pathogenic	17	41228596	41228597	T	TAGGG	reviewed by expert panel	ClinGen:CA10585914
Deletion	NM_007294.4(BRCA1):c.2418del (p.Ala807fs)	BRCA1	Pathogenic	17	41245130	41245130	CT	C	reviewed by expert panel	ClinGen:CA10585917
Duplication	NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)	BRCA1	Pathogenic	17	41245215	41245216	C	CCA	reviewed by expert panel	ClinGen:CA001558
Deletion	NM_007294.4(BRCA1):c.715del (p.His239fs)	BRCA1	Pathogenic	17	41246833	41246833	TG	T	reviewed by expert panel	ClinGen:CA10585919
Deletion	NM_007294.4(BRCA1):c.346del (p.Glu116fs)	BRCA1	Pathogenic	17	41256234	41256234	TC	T	reviewed by expert panel	ClinGen:CA055760
Duplication	NM_000059.4(BRCA2):c.378dup (p.Ala127fs)	BRCA2	Pathogenic	13	32899272	32899273	C	CA	reviewed by expert panel	ClinGen:CA10585925
Deletion	NM_000059.4(BRCA2):c.1057del (p.Ser353fs)	BRCA2	Pathogenic	13	32906672	32906672	CT	C	reviewed by expert panel	ClinGen:CA10585926
Indel	NM_000059.3(BRCA2):c.1114_1117delinsCATT (p.Asn372_Gln373delinsHisTer)	BRCA2	Pathogenic	13	32906729	32906732	AATC	CATT	criteria provided, single submitter	ClinGen:CA10585927