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.9118-2A>C	BRCA2	Pathogenic	13	32954142	32954142	A	C	criteria provided, single submitter	ClinGen:CA10602560
single nucleotide variant	NM_000059.4(BRCA2):c.9118-2A>T	BRCA2	Pathogenic/Likely pathogenic	13	32954142	32954142	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602561
single nucleotide variant	NM_000059.4(BRCA2):c.9118-1G>A	BRCA2	Pathogenic	13	32954143	32954143	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602562
Indel	NM_000059.4(BRCA2):c.9256_9256+2delinsACAG	BRCA2	Pathogenic	13	32954282	32954284	GGT	ACAG	criteria provided, single submitter	ClinGen:CA10602563
Deletion	NM_000059.4(BRCA2):c.9257-3_9258del	BRCA2	Pathogenic	13	32968823	32968827	CTAGGA	C	criteria provided, single submitter	ClinGen:CA10602564
single nucleotide variant	NM_000059.4(BRCA2):c.9257-2A>G	BRCA2	Pathogenic/Likely pathogenic	13	32968824	32968824	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602565
Duplication	NM_000059.4(BRCA2):c.9257-2_9261dup	BRCA2	Pathogenic	13	32968822	32968823	C	CTAGGACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602566
Deletion	NM_000059.4(BRCA2):c.9499_9501+2del	BRCA2	Pathogenic	13	32969067	32969071	TTGAGG	T	criteria provided, single submitter	ClinGen:CA10602567
single nucleotide variant	NM_000059.4(BRCA2):c.9501+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32969071	32969071	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602568
Duplication	NM_007294.4(BRCA1):c.5468-11_5520dup	BRCA1	Pathogenic	17	41197766	41197767	T	TGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGA	criteria provided, single submitter	ClinGen:CA10602569