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.267_268del (p.Leu90fs)	BRCA2	Pathogenic	13	32893412	32893413	CCG	C	reviewed by expert panel	ClinGen:CA16619640
Deletion	NM_000059.4(BRCA2):c.349_350del (p.Leu117fs)	BRCA2	Pathogenic	13	32899244	32899245	GTC	G	reviewed by expert panel	ClinGen:CA16619642
single nucleotide variant	NM_000059.4(BRCA2):c.631+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32900751	32900751	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619647
single nucleotide variant	NM_000059.4(BRCA2):c.913G>T (p.Glu305Ter)	BRCA2	Pathogenic	13	32906528	32906528	G	T	reviewed by expert panel	ClinGen:CA16619652
Duplication	NM_000059.4(BRCA2):c.1211dup (p.Asn404fs)	BRCA2	Pathogenic	13	32906823	32906824	T	TA	reviewed by expert panel	ClinGen:CA16619654
Deletion	NM_000059.4(BRCA2):c.1321_1324del (p.Thr441fs)	BRCA2	Pathogenic	13	32906933	32906936	TCTTA	T	reviewed by expert panel	ClinGen:CA16619656
Deletion	NM_000059.4(BRCA2):c.1379del (p.Asn460fs)	BRCA2	Pathogenic	13	32906992	32906992	TA	T	reviewed by expert panel	ClinGen:CA16619658
Indel	NM_000059.4(BRCA2):c.1831_1842delinsATCAG (p.Ser611fs)	BRCA2	Pathogenic	13	32907446	32907457	TCAGAACTAATT	ATCAG	reviewed by expert panel	ClinGen:CA16619663
Deletion	NM_000059.4(BRCA2):c.1833del (p.Glu612fs)	BRCA2	Pathogenic	13	32907448	32907448	CA	C	reviewed by expert panel	ClinGen:CA16619664
Deletion	NM_000059.4(BRCA2):c.2192_2196del (p.Glu731fs)	BRCA2	Pathogenic	13	32910682	32910686	AAGAAG	A	reviewed by expert panel	ClinGen:CA16619667