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.6034del (p.Ser2012fs)	BRCA2	Pathogenic	13	32914523	32914523	CT	C	reviewed by expert panel	ClinGen:CA645294073
Deletion	NM_000059.4(BRCA2):c.6650_6654del (p.Lys2217fs)	BRCA2	Pathogenic	13	32915142	32915146	AAAGAT	A	reviewed by expert panel	ClinGen:CA645294074
Deletion	NM_000059.4(BRCA2):c.6652del (p.Asp2218fs)	BRCA2	Pathogenic	13	32915144	32915144	AG	A	reviewed by expert panel	ClinGen:CA645294075
single nucleotide variant	NM_005612.5(REST):c.1310T>A (p.Leu437Ter)	REST	Likely pathogenic	4	57796334	57796334	T	A	criteria provided, single submitter	ClinGen:CA357006327,OMIM:600571.0005
Deletion	NM_005612.5(REST):c.2413del (p.Leu805fs)	REST	Likely pathogenic	4	57797434	57797434	TC	T	criteria provided, single submitter	ClinGen:CA645372752,OMIM:600571.0006
Deletion	NM_000059.4(BRCA2):c.8954-8_9136del	BRCA2	Pathogenic	13	32953879	32954162	CTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA	C	criteria provided, single submitter	ClinGen:CA645369604
single nucleotide variant	NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg)	BRCA2	Pathogenic/Likely pathogenic	13	32936730	32936730	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA387747100
Indel	NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs)	BRCA2	Pathogenic	13	32944607	32944609	TTT	AAAA	reviewed by expert panel	ClinGen:CA645509335
Deletion	NM_000059.4(BRCA2):c.8206del (p.Leu2736fs)	BRCA2	Pathogenic	13	32937542	32937542	TC	T	reviewed by expert panel	ClinGen:CA645509333
single nucleotide variant	NM_000059.4(BRCA2):c.3322A>T (p.Lys1108Ter)	BRCA2	Pathogenic	13	32911814	32911814	A	T	reviewed by expert panel	ClinGen:CA387776244