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.5618_5622del (p.Val1873fs)	BRCA2	Pathogenic	13	32914110	32914114	GTAATT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6141T>G (p.Tyr2047Ter)	BRCA2	Pathogenic	13	32914633	32914633	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.6500T>G (p.Leu2167Ter)	BRCA2	Pathogenic	13	32914992	32914992	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6800C>G (p.Ser2267Ter)	BRCA2	Pathogenic	13	32915292	32915292	C	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs)	BRCA2	Pathogenic/Likely pathogenic	13	32918736	32918740	CAGGAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.7628_7629del (p.Tyr2543fs)	BRCA2	Likely pathogenic	13	32931888	32931889	GTA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32945167	32945167	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.1910-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32910401	32910401	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.7806-1G>A	BRCA2	Pathogenic	13	32936659	32936659	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9649_10257del (p.Met3217_Ter3419del)	BRCA2	Pathogenic	13	32972299	32972907	GATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA	G	criteria provided, single submitter	-