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
Deletion	NM_000059.4(BRCA2):c.4380_4381del (p.Ser1461fs)	BRCA2	Pathogenic	13	32912870	32912871	CTT	C	reviewed by expert panel	ClinGen:CA020074
Deletion	NM_000059.4(BRCA2):c.438del (p.Gln147fs)	BRCA2	Pathogenic	13	32900250	32900250	TA	T	reviewed by expert panel	ClinGen:CA020078
Deletion	NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)	BRCA2	Pathogenic	13	32912887	32912891	AATTAC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4626&base_change=del ACATT,ClinGen:CA020088
single nucleotide variant	NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter)	BRCA2	Pathogenic	13	32900251	32900251	C	T	reviewed by expert panel	ClinGen:CA020093
Deletion	NM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs)	BRCA2	Pathogenic	13	32912900	32912901	CAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4637&base_change=del TA,ClinGen:CA020106
Deletion	NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs)	BRCA2	Pathogenic	13	32912900	32912904	CATAAG	C	reviewed by expert panel	ClinGen:CA020111
Deletion	NM_000059.4(BRCA2):c.4423del (p.Met1475fs)	BRCA2	Pathogenic	13	32912912	32912912	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4651&base_change=del A,ClinGen:CA020171
single nucleotide variant	NM_000059.4(BRCA2):c.4440T>G (p.Tyr1480Ter)	BRCA2	Pathogenic	13	32912932	32912932	T	G	reviewed by expert panel	ClinGen:CA020187
Deletion	NM_000059.4(BRCA2):c.4456_4459del (p.Val1486fs)	BRCA2	Pathogenic	13	32912946	32912949	ATAGT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4682&base_change=del TAGT,Breast Cancer Information Core (BIC) (BRCA2):4684&base_change=del GTTA,ClinGen:CA020201
Deletion	NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs)	BRCA2	Pathogenic	13	32912962	32912965	TACTG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4699&base_change=del CTGA,ClinGen:CA020226