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.6223A>T (p.Lys2075Ter)	BRCA2	Pathogenic	13	32914715	32914715	A	T	criteria provided, single submitter	ClinGen:CA387788877
single nucleotide variant	NM_000059.4(BRCA2):c.9310A>T (p.Lys3104Ter)	BRCA2	Pathogenic	13	32968879	32968879	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387760919
Duplication	NM_000059.4(BRCA2):c.6327dup (p.Asp2110Ter)	BRCA2	Pathogenic	13	32914817	32914818	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656328
Indel	NM_000059.4(BRCA2):c.6336_6340delinsTTT (p.Arg2112fs)	BRCA2	Pathogenic	13	32914828	32914832	AAACC	TTT	criteria provided, single submitter	ClinGen:CA658656329
Indel	NM_000059.4(BRCA2):c.9556_9567delinsAAGTGGTCCACCCCAACTA (p.Ala3186fs)	BRCA2	Pathogenic	13	32971089	32971100	GCAAATGATCCC	AAGTGGTCCACCCCAACTA	criteria provided, single submitter	ClinGen:CA658656375
Indel	NM_000059.4(BRCA2):c.6355_6357delinsT (p.Asn2119fs)	BRCA2	Pathogenic	13	32914847	32914849	AAC	T	criteria provided, single submitter	ClinGen:CA658656330
single nucleotide variant	NM_000059.4(BRCA2):c.9649-1G>C	BRCA2	Likely pathogenic	13	32972298	32972298	G	C	criteria provided, single submitter	ClinGen:CA387765050
Duplication	NM_000059.4(BRCA2):c.270_273dup (p.Gln92fs)	BRCA2	Pathogenic	13	32893415	32893416	T	TGTAC	criteria provided, single submitter	ClinGen:CA658656335
Deletion	NM_000059.4(BRCA2):c.7279_7283del (p.Asn2427fs)	BRCA2	Pathogenic	13	32929267	32929271	ATTAAC	A	criteria provided, single submitter	ClinGen:CA658656417
single nucleotide variant	NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32930699	32930699	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387743779