ウィルムス腫瘍

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
Insertion	NM_000059.4(BRCA2):c.7379_7380insG (p.Asn2460fs)	BRCA2	Pathogenic	13	32929369	32929370	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7607&base_change=ins G,ClinGen:CA025047
Duplication	NM_000059.3(BRCA2):c.7469dup (p.Gln2491fs)	BRCA2	Pathogenic	13	32930597	32930598	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7696&base_change=ins T,ClinGen:CA025104
Insertion	NM_000059.4(BRCA2):c.7595_7596insTT (p.Ala2534fs)	BRCA2	Pathogenic	13	32930724	32930725	C	CTT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7823&base_change=ins TT,ClinGen:CA025168
Deletion	NM_000059.4(BRCA2):c.7596_7609del (p.Pro2532_Ser2533insTer)	BRCA2	Pathogenic	13	32930724	32930737	CCCTCTGCGTGTTCT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7824&base_change=del 14,ClinGen:CA025169
Duplication	NM_000059.4(BRCA2):c.7627dup (p.Tyr2543fs)	BRCA2	Pathogenic	13	32931887	32931888	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7855&base_change=ins T,ClinGen:CA025198
Duplication	NM_000059.4(BRCA2):c.7719dup (p.Trp2574fs)	BRCA2	Pathogenic	13	32931979	32931980	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7947&base_change=ins A,ClinGen:CA025245
Duplication	NM_000059.4(BRCA2):c.7791dup (p.Glu2598fs)	BRCA2	Pathogenic	13	32932048	32932049	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8019&base_change=ins A,ClinGen:CA025276
Duplication	NM_000059.4(BRCA2):c.7816_7819dup (p.Thr2607fs)	BRCA2	Pathogenic	13	32936669	32936670	T	TGACA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8047&base_change=ins GACA,ClinGen:CA025297
Indel	NM_000059.4(BRCA2):c.7921_7926delGAATTTinsAG	BRCA2	Pathogenic	13	32936775	32936780	GAATTT	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8149&base_change=del 6 ins AG,ClinGen:CA025336
single nucleotide variant	NM_000059.4(BRCA2):c.7977-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32937315	32937315	G	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):8205-1&base_change=G to T,ClinGen:CA025373