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.4008_4009insCATC (p.Asp1337fs)	BRCA2	Pathogenic	13	32912500	32912501	T	TCATC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4236&base_change=ins CATC,ClinGen:CA019388
Insertion	NM_000059.4(BRCA2):c.4014_4015insGG (p.Ser1339fs)	BRCA2	Pathogenic	13	32912506	32912507	C	CGG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4242&base_change=ins GG,ClinGen:CA019398
Duplication	NM_000059.4(BRCA2):c.4048dup (p.His1350fs)	BRCA2	Pathogenic	13	32912539	32912540	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4276&base_change=ins C,ClinGen:CA019430
Insertion	NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)	BRCA2	Pathogenic	13	32912623	32912624	C	CTGAGGA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4359&base_change=ins TGAGGA,ClinGen:CA019572
Deletion	NM_000059.4(BRCA2):c.4563_4564del (p.Leu1522fs)	BRCA2	Pathogenic	13	32913054	32913055	CTA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4791&base_change=del GT,ClinGen:CA020451
Insertion	NM_000059.4(BRCA2):c.4809_4810insA (p.Leu1604fs)	BRCA2	Pathogenic	13	32913301	32913302	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5037&base_change=ins A,ClinGen:CA020862
Duplication	NM_000059.4(BRCA2):c.4904dup (p.Leu1635fs)	BRCA2	Pathogenic	13	32913391	32913392	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5132&base_change=ins T,ClinGen:CA020987
Insertion	NM_000059.4(BRCA2):c.4981_4982insG (p.Tyr1661Ter)	BRCA2	Pathogenic	13	32913473	32913474	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5209&base_change=ins G,ClinGen:CA021098
Insertion	NM_000059.4(BRCA2):c.5074_5075insA (p.Trp1692Ter)	BRCA2	Pathogenic	13	32913566	32913567	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5302&base_change=ins A,ClinGen:CA021214
Deletion	NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs)	BRCA2	Pathogenic	13	32913711	32913714	TTAAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5450&base_change=del GTAA,ClinGen:CA021774