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
Duplication	NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter)	BRCA2	Pathogenic	13	32912751	32912752	A	AT	reviewed by expert panel	ClinGen:CA16619703
Deletion	NM_000059.4(BRCA2):c.4419del (p.Asn1473fs)	BRCA2	Pathogenic	13	32912911	32912911	AC	A	reviewed by expert panel	ClinGen:CA16619709
Deletion	NM_000059.4(BRCA2):c.4548_4549del (p.Lys1517fs)	BRCA2	Pathogenic	13	32913040	32913041	TCA	T	reviewed by expert panel	ClinGen:CA16619710
Deletion	NM_000059.4(BRCA2):c.4677del (p.Phe1559fs)	BRCA2	Pathogenic	13	32913166	32913166	GT	G	reviewed by expert panel	ClinGen:CA16619713
Duplication	NM_000059.4(BRCA2):c.4700dup (p.Tyr1569fs)	BRCA2	Pathogenic	13	32913191	32913192	C	CT	reviewed by expert panel	ClinGen:CA16619714
Deletion	NM_000059.4(BRCA2):c.4909del (p.Val1637fs)	BRCA2	Pathogenic	13	32913401	32913401	AG	A	reviewed by expert panel	ClinGen:CA16619716
single nucleotide variant	NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter)	BRCA2	Pathogenic	13	32913602	32913602	A	T	reviewed by expert panel	ClinGen:CA16619718
Deletion	NM_000059.4(BRCA2):c.5298_5301del (p.Lys1767fs)	BRCA2	Pathogenic	13	32913787	32913790	AAAAT	A	reviewed by expert panel	ClinGen:CA16619722
single nucleotide variant	NM_000059.4(BRCA2):c.5400C>G (p.Tyr1800Ter)	BRCA2	Pathogenic	13	32913892	32913892	C	G	reviewed by expert panel	ClinGen:CA16619724
Duplication	NM_000059.4(BRCA2):c.5465dup (p.Asn1822fs)	BRCA2	Pathogenic	13	32913952	32913953	C	CA	reviewed by expert panel	ClinGen:CA16619726