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.7568dup (p.Lys2524fs)	BRCA2	Pathogenic/Likely pathogenic	13	32930696	32930697	C	CT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.8589dup (p.Ala2864fs)	BRCA2	Pathogenic	13	32945192	32945193	G	GA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972419	32972420	GAA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.632-1dup	BRCA2	Likely pathogenic	13	32903578	32903579	A	AG	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.8488-1_8489delinsTCCATTACA	BRCA2	Likely pathogenic	13	32945092	32945094	GTG	TCCATTACA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.68-352_317-1637del	BRCA2	Pathogenic	13	32892842	32897556	TTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCGAATTTTATCGTGGAATGTATTCTTAATGTGAATAGTTTTTGATTCCGAACCATGAATAATAAGAAAATAAATAAAATTTAAATGAAAATAAAAGCTAATATATACAGCTTTTAATAATATAGTTAAATGCCATCTTGTAACTTTTGTGAACTCTTGTTACACCTTTCTATAGATTCGCAAGAGAATGGATTAATGATCTTGTTTAATTAATATGCCTTAACAAAAGTAATCCATAGTCAAGATCTTAAGCATTTTTTTCCTTATGATCTTTAACTGTTCTGGGTCACAAATTTGTCTGTCACTGGTTAAAACTAAGGTGGGATTTTTTTTTTAAATAGATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGTAGACTGGGGAGAACTACAAACTAGGAATTTAGGCAAACCTGTGTTAAAATCTTAGCTCATTCATTAATTGTGTCATGCTGGGCAAATCAGTCTCTCTGGCCTCTTTTTCCTCACTCGAAAAATGGAGACGATGAAAATAATGTCTCATAGGTTTGGATTAAATTAAATAATGTAGGTACTTAGTAAATGTTCTCTTTCATCCCTCCTTTGATAAATTTGCCAACTGAGATTTGCTGAATTACGTCTTTCTTATGCCAAAAAAACCTAGGACTTGTTTTGATGTTAATTAAACTAAACTATATTTCTGCAAGCTATCACAGAGGACAGAGATTATTTTACCGATATACTATAAGTATCATGATTTGGAAGGAGTTTCCCTGGCGTAGGTGCCGCATGTTTCTAAGCAATTATGTAATAAGATTATATATTCAGTCATTCAAATAATTATTACCTACTTGACATAAGTAATGAACTTTCCCTTTTCTTCAGAGTGTTAATCTCTAGTAAGGGGAATAAAGAGTACACAGATAAAGTATAGTGTAAGGTTGAATGTAGTATGTGCTAAGAGAAAAATATAAAAAAGTATAATGAGAGTTGAGAAGAAAGAGCAAATAGTATTGGGCAAAGTTAGGCAATTATTCCTTTGAGCTAAACCTTGAAGGATAGGTGAGAGATTAAGAAATTTGAAGATGTGGTAGAGTGATAATGTTCTAGGCAGAGGGAACAACATGAGGAAGAATATGTAGTGTGTTCAGGAAATAGCAAGTAATTCAGGTTGGCTTTGGTTGTTTTGTGTCTGAAAGGGACCAATAGACAAGGCAAAAAGGCAGACTAAAGGCAGGCATTGAATGCCAAGCTAAAGAAATTGAATTTGTTTGGTTGGTTGGTGAGCAGAGAAATCACATGCAAATTTCATCATGCTACTTATTGTGTCAAACCTTAGATCACCTCCCTTTGTCCTTATAGCAAAATCTAAACTTGATATGGCTTTCAAGTTCCTTTGTGATCAGGCCCCTGATTTACACTCTTGGCTCAGCTTGCCATATTCATCCTCTCACCTATCTTCATTTGCCATTCATTCCTACTGAATTTCTTTTCGTTACCAAAACCACAATGCTCTCTGGCTCTTTATTAAACATATTGTTACCTCTACCCACAACCTACTTTTTCCCTACTTTTTGTCTAGCTAATTTGCGTGCTCGTCTTTCAGATCTTGGCTTATTTCTGCTTCTGAGAAATACTTCCTGTCTGCCCTCGTTGAGCTTCTAGTGAAGGAGACATACATAAGCAATTATAGTGTGATACATGCTTTGAAAGAAATTCATGGCTATAGGGAGTGCATATACAAAGGGAATATAGGTAATGGGCAAATATTTACATGTATGTTATTGGATACCAAATGGTATACATAGGATTCAGTAAATATTTGTAGAGTGAGTATTAGTATTATTTGCTTTAGAAAGCCTAATGATCAAACAGCAGTCTTTGGAGATAACGTTTTTCAAAATGTCATGTCTGTGCCATTAGAATCTTCTAGACTGCTCATTGAAAGGACAGATTCCAGGCCCCACTCTGAATCTCTTAATTTATAATTTTTGGAAATGATGCCCATGAGTCTACATTTTAAACTACCTGAATGATCCCTATAGAAAGAGAAAACTGGAGGTAGGAAGATCAGTTAGGGGATGTGTAATGGTCTAGGTGATAGAGACAAGTGCCTGAATTACAGTAATAACAGTGAAAGTAAATATGGAACATAAAACTATAGGACCTTGCAGTAGTCTAGATATGGAGGATTCAAAAAAAGGAACAAATGACAGGGCAAAGCATATGCAGAACACAGTAGTAACAGTCATAGAAATGGATAAGGGAGTCATCCATTCTGCAAATACTTAGTGCTTACTTGTGTCTGGCAACCTGCTCGGCATTAAGGATACAAATATGAATAAGATGTCCTTTGACCTCTAAGTACTCAGTCTCGTAAGCACGTCTTGTAAGCACATCTTGGTTGCTTCCATAAAAATAAATACACTAGTGTGATATGTTATAAGAGCATGTACCAAGTGCATGAAAAGTGAGCAGCCATCTCTGGTTGGTCAGAAAAAGCTCCATAAAGCAGTTTTTGCTGAATCTTGAAAGATATACCTAAGGTCAAATGGTTAATTCTTTAATCATAACCTGCTAGAATTGATCTATAACCAAGGAAGGATAGTAAGGAATTAATAAGGCCACTCTCAACTCACTGCAAAGGAGTTAACTTTTTGAAGGCTGTAATACATAAATCTGCTGACTAGTCTCTTGAGACCTTTTGCTTTTACGTTTACTTTAGATTCAGTATTGAAAAGTAAGAGTAATGGACTTAAGCTGTGTTTTTCAACCTGTTTTGTTCAGTTCTAACATGTAATATTTTTTAAAAAATTATTCCTAAAGTTCTATGAGGAATTGTGCTGTTTCTGCCTCTCAGCAGTCCTTCCTTTTGCATTAAATCATAGGCATTTCTGTTACCATTCTTCAGCTTATTAATGAGATCCTCAGGTTATTTGGGAAATGTTTATTTGGTAATTAACTCTTTTTCACCTAGTTCATTTTTTTAACTTTTTTTTTTAAATAGCCGAGTTTCTTTTCATTGCTGAACTAAAATGGATGTGTTATTATTAGCTGAACTCCTTAGTTTACTTTAGAGTTCACCCTTTGTATGGTTCTATGGATTTTGACAAATTGTATAATGTCGTATATCTGCCATTATGGCATTATACAGAATAATTTTGCTGCCCTAAAAATCTCCCGAGTTCCACCTGCTCACCCATCCCTCCTCCTGAGCCCCTGGCAGCCACTGATCTTTTTACTGTCTGTATAGTTTTGCCTTTTCCAGAATGTCATGTAGTTGGAATCATACAGAATATAGCATTTTCAGACTGGCTTCTTTCACTTAGCAATATGCCGAGACCAGCTCGATTGTAGAGACCCTAACCCAGCGGCACTAGAGGAATTAAAGGCACACAGAAATATAGCGGTGTGGAGTGGGAAATCAGGGGTCTCACAGCCTTTTGACAGCAAGCCAGTGATAAGCATTGTTTCTATAGATTATAGATTAACTGAAAGTATTCCTTAGGGGAAATAAAGGGCTGGGCCGAAGTAAAGGGATGGGTCTGGCTAGTTATCTGCAGCAGGAGAATGTCCTTAAGGCACAGGTCGCTCATGATAGTTTGTGGTTTAAGAACGCCTTTAAGCGGTTTTCTGCCCCGGGTGGGCCAGGTGTTCCTTGCCCTCATTCCGGTAAACCCACAAGCTTCCAGCGTGGGTGTCATGGCCATCACGAACATGTCACAGTGCTGCAGAGATTTTGTTTATGGCCAGTTTTGGGGCCAGTTCCCAACAGCAATATGTGTTTAAGGTTCTTCCATGTCTTTTAATGATTTCATGCTGAATAATATTCCATCGTATTGATGTACCACAGCTTGTTTATCCATTCATCTATTGAAGGACATCTTGATTGCTTCCAAATTTTGGCAATTATGAATAAAGCTGGTATAAATATTCACATACAGGTTTGTGTGTGAATATATTTTCAACTCATTTTGGTTCACACCAAAGAGCACGATTGTGGGATCATATAGTAAGAGTATGTTTAGTTTTATGAGAAACTACAAGCTTTCTTCCAAAGTAGCTGTTGCATTTTGTATTCCCACCAGCAGTGAATGAGAGTTCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGC	T	criteria provided, single submitter	-
Insertion	NM_000059.4(BRCA2):c.5727_5728insG (p.Asn1910fs)	BRCA2	Pathogenic	13	32914219	32914220	T	TG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4983_4986del (p.Pro1660_Tyr1661insTer)	BRCA2	Likely pathogenic	13	32913474	32913477	TATTC	T	criteria provided, single submitter	-
Duplication	NM_005612.5(REST):c.265dup (p.Glu89fs)	REST	Pathogenic	4	57777068	57777069	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)	WT1	Pathogenic	11	32410674	32410674	C	T	criteria provided, single submitter	-