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.2402_2420del (p.Asn801fs)	BRCA2	Pathogenic	13	32910894	32910912	AACAATTATGAATCTGATGT	A	reviewed by expert panel	ClinGen:CA10602528
Indel	NM_000059.3(BRCA2):c.2778_2782delCATGGins12 (p.?)	BRCA2	Pathogenic	13	32911270	32911274	na	na	criteria provided, single submitter	-
Insertion	NM_000059.3:c.4539_4540ins4	BRCA2	Pathogenic	13	32913031	32913032	na	na	criteria provided, single submitter	-
Indel	NM_000059.3:c.5161_5169delins5	BRCA2	Pathogenic	13	32913653	32913661	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5616del (p.Lys1872_Val1873insTer)	BRCA2	Pathogenic	13	32914106	32914106	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602529
Deletion	NM_000059.4(BRCA2):c.6879del (p.Phe2293fs)	BRCA2	Pathogenic/Likely pathogenic	13	32918730	32918730	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602530
Duplication	NM_000059.4(BRCA2):c.6899_6906dup (p.Ser2303fs)	BRCA2	Pathogenic	13	32918751	32918752	C	CAAGAAAAA	criteria provided, single submitter	ClinGen:CA6941013
single nucleotide variant	NM_000059.4(BRCA2):c.6901G>T (p.Glu2301Ter)	BRCA2	Pathogenic	13	32918754	32918754	G	T	criteria provided, single submitter	ClinGen:CA10602532
single nucleotide variant	NM_000059.4(BRCA2):c.6938-2A>C	BRCA2	Pathogenic	13	32920962	32920962	A	C	criteria provided, single submitter	ClinGen:CA10602534
single nucleotide variant	NM_000059.4(BRCA2):c.6938-1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32920963	32920963	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602535