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	NC_000017.10:g.(?_33430267)_(33446638_?)del	RAD51D	Pathogenic	17	33430267	33446638	na	na	criteria provided, single submitter	-
Indel	NM_002878.4(RAD51D):c.144+1_144+11delinsCC	RAD51D	Likely pathogenic	17	33446119	33446129	CAGGAGCTCAC	GG	criteria provided, single submitter	ClinGen:CA658658614
Deletion	NC_000017.11:g.(?_35106380)_(35107453_?)del	RAD51D	Pathogenic	17	33433399	33434472	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_35100947)_(35101042_?)del	RAD51D	Likely pathogenic	17	33427966	33428061	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.2T>A (p.Met1Lys)	RAD51D	Likely pathogenic	17	33446631	33446631	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399092629
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
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.587del (p.Ser196fs)	RAD51D	Likely pathogenic	17	33430553	33430553	AG	A	criteria provided, single submitter	ClinGen:CA16620385
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.772_778del (p.Gly258fs)	RAD51D	Pathogenic/Likely pathogenic	17	33428345	33428351	AGCCTCCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620380