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_002878.4(RAD51D):c.772_778del (p.Gly258fs)	RAD51D	Pathogenic/Likely pathogenic	17	33428345	33428351	AGCCTCCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620380
Duplication	NM_002878.4(RAD51D):c.774dup (p.Arg259fs)	RAD51D	Likely pathogenic	17	33428348	33428349	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620381
Deletion	NM_002878.4(RAD51D):c.587del (p.Ser196fs)	RAD51D	Likely pathogenic	17	33430553	33430553	AG	A	criteria provided, single submitter	ClinGen:CA16620385
Deletion	NM_002878.4(RAD51D):c.131_144+24del	RAD51D	Pathogenic/Likely pathogenic	17	33446106	33446143	TGGAATGTGGAGATCAGGAGCTCACCTTGTAAGACAAGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620391
Deletion	NM_002878.4(RAD51D):c.81del (p.Val28fs)	RAD51D	Pathogenic/Likely pathogenic	17	33446552	33446552	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620392
single nucleotide variant	NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys)	BRCA1	Pathogenic/Likely pathogenic	17	41197776	41197776	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590294
Deletion	NM_007294.4(BRCA1):c.5398del (p.Gly1801fs)	BRCA1	Pathogenic	17	41201146	41201146	AG	A	reviewed by expert panel	ClinGen:CA16620419
single nucleotide variant	NM_007294.4(BRCA1):c.4787C>A (p.Ser1596Ter)	BRCA1	Pathogenic	17	41223144	41223144	G	T	reviewed by expert panel	ClinGen:CA10591942
Indel	NM_007294.4(BRCA1):c.4523_4526delinsTGCCCATCATTAGATGAG (p.Trp1508_Tyr1509delinsLeuProIleIleArgTer)	BRCA1	Pathogenic	17	41226497	41226500	TACC	CTCATCTAATGATGGGCA	reviewed by expert panel	ClinGen:CA16620423
Deletion	NM_007294.4(BRCA1):c.4412del (p.Gly1471fs)	BRCA1	Pathogenic	17	41228577	41228577	GC	G	reviewed by expert panel	ClinGen:CA16620424