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.9871del (p.Ser3291fs)	BRCA2	Pathogenic	13	32972519	32972519	GT	G	reviewed by expert panel	ClinGen:CA10589577
single nucleotide variant	NM_000059.4(BRCA2):c.9924C>A (p.Tyr3308Ter)	BRCA2	Pathogenic	13	32972574	32972574	C	A	reviewed by expert panel	ClinGen:CA10589578
Deletion	NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)	BRCA1	Pathogenic	17	41197727	41197731	AGGTAG	A	reviewed by expert panel	ClinGen:CA10589579
Deletion	NM_007294.4(BRCA1):c.5560del (p.Tyr1853_Leu1854insTer)	BRCA1	Pathogenic	17	41197727	41197727	AG	A	reviewed by expert panel	ClinGen:CA10589580
Deletion	NM_007294.4(BRCA1):c.5537_5556del (p.Gln1846fs)	BRCA1	Pathogenic	17	41197731	41197750	AGGTGTCCAGCTCCTGGCACT	A	reviewed by expert panel	ClinGen:CA10589581
Deletion	NM_007294.4(BRCA1):c.5551del (p.Asp1851fs)	BRCA1	Pathogenic	17	41197736	41197736	TC	T	reviewed by expert panel	ClinGen:CA10589582
single nucleotide variant	NM_007294.4(BRCA1):c.5542C>T (p.Gln1848Ter)	BRCA1	Pathogenic	17	41197745	41197745	G	A	reviewed by expert panel	ClinGen:CA10589583
Deletion	NM_007294.4(BRCA1):c.5536del (p.Gln1846fs)	BRCA1	Pathogenic	17	41197751	41197751	TG	T	reviewed by expert panel	ClinGen:CA10589584
single nucleotide variant	NM_007294.4(BRCA1):c.5535C>G (p.Tyr1845Ter)	BRCA1	Pathogenic	17	41197752	41197752	G	C	reviewed by expert panel	ClinGen:CA10589585
Deletion	NM_007294.4(BRCA1):c.5486_5510del (p.Glu1829fs)	BRCA1	Pathogenic	17	41197777	41197801	CCACTCTCGGGTCACCACAGGTGCCT	C	reviewed by expert panel	ClinGen:CA10589586