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
single nucleotide variant	NM_000059.4(BRCA2):c.9502-2A>C	BRCA2	Pathogenic/Likely pathogenic	13	32971033	32971033	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):9730-2&base_change=A to C,ClinGen:CA026190
Deletion	NM_000059.4(BRCA2):c.9507del (p.Ile3169fs)	BRCA2	Pathogenic	13	32971039	32971039	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9735&base_change=del T,ClinGen:CA026192
Deletion	NM_000059.4(BRCA2):c.9513_9516del (p.Leu3172fs)	BRCA2	Pathogenic	13	32971045	32971048	ATACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9741&base_change=del ACTT,ClinGen:CA026196
single nucleotide variant	NM_000059.4(BRCA2):c.952A>T (p.Lys318Ter)	BRCA2	Pathogenic	13	32906567	32906567	A	T	reviewed by expert panel	ClinGen:CA026200
Duplication	NM_000059.4(BRCA2):c.9537dup (p.Leu3180fs)	BRCA2	Pathogenic	13	32971069	32971070	A	AG	reviewed by expert panel	ClinGen:CA026201
Deletion	NM_000059.4(BRCA2):c.9541_9554del (p.Met3181fs)	BRCA2	Pathogenic	13	32971074	32971087	TATGCATATACTGCA	T	reviewed by expert panel	ClinGen:CA026204
Duplication	NM_000059.4(BRCA2):c.956dup (p.Asn319fs)	BRCA2	Pathogenic	13	32906565	32906566	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1184&base_change=ins A,ClinGen:CA026213
single nucleotide variant	NM_000059.4(BRCA2):c.9572G>A (p.Trp3191Ter)	BRCA2	Pathogenic	13	32971105	32971105	G	A	reviewed by expert panel	ClinGen:CA026216
single nucleotide variant	NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)	BRCA2	Pathogenic	13	32906576	32906576	C	T	reviewed by expert panel	ClinGen:CA026238
Deletion	NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)	BRCA2	Pathogenic	13	32972316	32972316	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9894&base_change=del T,ClinGen:CA026261