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.201_202dup (p.Lys68fs)	BRCA2	Pathogenic	13	32893346	32893347	G	GGA	reviewed by expert panel	ClinGen:CA10589013
Duplication	NM_000059.4(BRCA2):c.212dup (p.Tyr71Ter)	BRCA2	Pathogenic	13	32893357	32893358	T	TA	reviewed by expert panel	ClinGen:CA10589014
Insertion	NM_000059.4(BRCA2):c.224_225insA (p.Ser76fs)	BRCA2	Pathogenic	13	32893370	32893371	C	CA	reviewed by expert panel	ClinGen:CA10589015
single nucleotide variant	NM_000059.4(BRCA2):c.247G>T (p.Glu83Ter)	BRCA2	Pathogenic	13	32893393	32893393	G	T	reviewed by expert panel	ClinGen:CA10589016
Deletion	NM_000059.4(BRCA2):c.250del (p.Gln84fs)	BRCA2	Pathogenic	13	32893396	32893396	GC	G	reviewed by expert panel	ClinGen:CA10589018
Deletion	NM_000059.4(BRCA2):c.271_272del (p.Tyr91fs)	BRCA2	Pathogenic	13	32893417	32893418	GTA	G	reviewed by expert panel	ClinGen:CA10589019
Deletion	NM_000059.4(BRCA2):c.368_372del (p.Lys123fs)	BRCA2	Pathogenic	13	32899264	32899268	AAAATG	A	reviewed by expert panel	ClinGen:CA10589020
Deletion	NM_000059.4(BRCA2):c.370_374del (p.Met124fs)	BRCA2	Pathogenic	13	32899265	32899269	AAATGG	A	reviewed by expert panel	ClinGen:CA10589021
Duplication	NM_000059.4(BRCA2):c.428dup (p.Val144fs)	BRCA2	Pathogenic	13	32900238	32900239	T	TC	reviewed by expert panel	ClinGen:CA10589022
Deletion	NM_000059.4(BRCA2):c.433_437del (p.Val145fs)	BRCA2	Pathogenic	13	32900244	32900248	TTGTTC	T	reviewed by expert panel	ClinGen:CA10589023