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
Indel	NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)	BRCA2	Pathogenic	13	32954278	32954281	AACA	TT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9480&base_change=del AACA ins TT,ClinGen:CA026051
Deletion	NM_000059.4(BRCA2):c.9376del (p.Gln3126fs)	BRCA2	Pathogenic	13	32968944	32968944	TC	T	reviewed by expert panel	ClinGen:CA026123
single nucleotide variant	NM_000059.4(BRCA2):c.9573G>A (p.Trp3191Ter)	BRCA2	Pathogenic	13	32971106	32971106	G	A	reviewed by expert panel	ClinGen:CA026218
Deletion	NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)	BRCA2	Pathogenic	13	32972330	32972330	CA	C	reviewed by expert panel	ClinGen:CA026267
Deletion	NM_000059.4(BRCA2):c.9808del (p.Ala3270fs)	BRCA2	Pathogenic	13	32972458	32972458	AG	A	reviewed by expert panel	ClinGen:CA026301
Deletion	NM_000059.4(BRCA2):c.9824del (p.Ser3275fs)	BRCA2	Pathogenic	13	32972474	32972474	AG	A	reviewed by expert panel	ClinGen:CA026307
Deletion	NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs)	BRCA1	Pathogenic	17	41246407	41246462	TTCTGAATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1205&base_change=del 56,ClinGen:CA000729
single nucleotide variant	NM_007294.4(BRCA1):c.1093A>T (p.Arg365Ter)	BRCA1	Pathogenic	17	41246455	41246455	T	A	reviewed by expert panel	ClinGen:CA000732
Deletion	NM_007294.4(BRCA1):c.1292del (p.Leu431fs)	BRCA1	Pathogenic	17	41246256	41246256	TA	T	reviewed by expert panel	ClinGen:CA000844
Duplication	NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs)	BRCA1	Pathogenic	17	41246221	41246222	T	TAC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1445&base_change=ins GT,ClinGen:CA000864