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.22_50del (p.Val8fs)	BRCA1	Pathogenic	17	41276064	41276092	AGCATTAATGACATTTTGTACTTCTTCAAC	A	reviewed by expert panel	ClinGen:CA10590045
Deletion	NM_007294.4(BRCA1):c.40_41del (p.Val14fs)	BRCA1	Pathogenic	17	41276073	41276074	GAC	G	reviewed by expert panel	ClinGen:CA10590046
Deletion	NM_007294.4(BRCA1):c.40del (p.Val14fs)	BRCA1	Pathogenic	17	41276074	41276074	AC	A	reviewed by expert panel	ClinGen:CA10590047
Deletion	NM_007294.4(BRCA1):c.36_39del (p.Asn13fs)	BRCA1	Pathogenic	17	41276075	41276078	CATTT	C	reviewed by expert panel	ClinGen:CA10590048
Deletion	NM_000059.4(BRCA2):c.7843_7844del (p.Ile2615fs)	BRCA2	Pathogenic	13	32936696	32936697	TTA	T	reviewed by expert panel	ClinGen:CA10590057
Deletion	NM_007294.4(BRCA1):c.5407_5414delGGTGTCCA (p.Gly1803fs)	BRCA1	Pathogenic	17	41199713	41199720	GTGGACACC	G	reviewed by expert panel	ClinGen:CA10590059
single nucleotide variant	NM_007294.4(BRCA1):c.5116G>C (p.Gly1706Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41215927	41215927	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA501117
single nucleotide variant	NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41215927	41215927	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590060
Deletion	NM_007294.4(BRCA1):c.442-43_524del	BRCA1	Pathogenic	17	41251815	41251940	CTTTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTGCTAAACAGTATGGTAAAGAACAGTCAAGCAATTGTTGGCCAGT	C	criteria provided, single submitter	ClinGen:CA10590063
Deletion	NM_000059.4(BRCA2):c.67+1del	BRCA2	Pathogenic	13	32890664	32890664	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602513