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.8954-15T>G	BRCA2	Pathogenic	13	32953872	32953872	T	G	criteria provided, single submitter	ClinGen:CA10602554
single nucleotide variant	NM_000059.4(BRCA2):c.8954-5A>G	BRCA2	Pathogenic/Likely pathogenic	13	32953882	32953882	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602555
Deletion	NM_000059.3(BRCA2):c.8972_9097del (p.Arg2991_Thr3033delinsPro)	BRCA2	Pathogenic	13	32953905	32954030	CGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA	C	criteria provided, single submitter	ClinGen:CA10602556
single nucleotide variant	NM_000059.4(BRCA2):c.9117+2T>C	BRCA2	Pathogenic	13	32954052	32954052	T	C	criteria provided, single submitter	ClinGen:CA10602558
Deletion	NM_000059.4(BRCA2):c.9118-7_9121del	BRCA2	Pathogenic	13	32954133	32954143	TGTTTTCTGTAG	T	criteria provided, single submitter	ClinGen:CA10602559
single nucleotide variant	NM_000059.4(BRCA2):c.9118-2A>C	BRCA2	Pathogenic	13	32954142	32954142	A	C	criteria provided, single submitter	ClinGen:CA10602560
single nucleotide variant	NM_000059.4(BRCA2):c.9118-2A>T	BRCA2	Pathogenic/Likely pathogenic	13	32954142	32954142	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602561
single nucleotide variant	NM_000059.4(BRCA2):c.9118-1G>A	BRCA2	Pathogenic	13	32954143	32954143	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602562
Indel	NM_000059.4(BRCA2):c.9256_9256+2delinsACAG	BRCA2	Pathogenic	13	32954282	32954284	GGT	ACAG	criteria provided, single submitter	ClinGen:CA10602563
Deletion	NM_000059.4(BRCA2):c.9257-3_9258del	BRCA2	Pathogenic	13	32968823	32968827	CTAGGA	C	criteria provided, single submitter	ClinGen:CA10602564