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
single nucleotide variant	NM_000059.4(BRCA2):c.4904T>A (p.Leu1635Ter)	BRCA2	Pathogenic	13	32913396	32913396	T	A	reviewed by expert panel	ClinGen:CA10586528
single nucleotide variant	NM_000059.4(BRCA2):c.4936G>T (p.Glu1646Ter)	BRCA2	Pathogenic	13	32913428	32913428	G	T	reviewed by expert panel	ClinGen:CA10586529
Deletion	NM_000059.4(BRCA2):c.4940del (p.Thr1647fs)	BRCA2	Pathogenic	13	32913432	32913432	AC	A	reviewed by expert panel	ClinGen:CA10586530
Indel	NM_000059.4(BRCA2):c.4965delinsGA (p.Tyr1655Ter)	BRCA2	Pathogenic	13	32913457	32913457	C	GA	reviewed by expert panel	ClinGen:CA10586531
single nucleotide variant	NM_000059.4(BRCA2):c.4972C>T (p.Gln1658Ter)	BRCA2	Pathogenic	13	32913464	32913464	C	T	reviewed by expert panel	ClinGen:CA10586532
single nucleotide variant	NM_000059.4(BRCA2):c.5057T>A (p.Leu1686Ter)	BRCA2	Pathogenic	13	32913549	32913549	T	A	reviewed by expert panel	ClinGen:CA10586533
Deletion	NM_000059.4(BRCA2):c.5070_5073del (p.Lys1690fs)	BRCA2	Pathogenic	13	32913559	32913562	CAAAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5296&base_change=del AAAA,ClinGen:CA021198
single nucleotide variant	NM_000059.4(BRCA2):c.5071A>T (p.Lys1691Ter)	BRCA2	Pathogenic	13	32913563	32913563	A	T	reviewed by expert panel	ClinGen:CA10586534
Deletion	NM_000059.4(BRCA2):c.5130del (p.Asp1709_Tyr1710insTer)	BRCA2	Pathogenic	13	32913622	32913622	AT	A	reviewed by expert panel	ClinGen:CA10586535
Deletion	NM_000059.4(BRCA2):c.5132_5135del (p.Val1711fs)	BRCA2	Pathogenic	13	32913623	32913626	TGTAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5359&base_change=del GTAG,ClinGen:CA021355