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.1317del (p.Thr441fs)	BRCA2	Pathogenic	13	32906929	32906929	AT	A	reviewed by expert panel	ClinGen:CA10589086
Duplication	NM_000059.4(BRCA2):c.1318_1319dup (p.Thr441fs)	BRCA2	Pathogenic	13	32906931	32906932	T	TTC	reviewed by expert panel	ClinGen:CA10589087
Deletion	NM_000059.4(BRCA2):c.1334del (p.Ser445fs)	BRCA2	Pathogenic	13	32906949	32906949	TC	T	reviewed by expert panel	ClinGen:CA10589088
single nucleotide variant	NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter)	BRCA2	Pathogenic	13	32906991	32906991	T	G	reviewed by expert panel	ClinGen:CA10589090
Deletion	NM_000059.4(BRCA2):c.1376del (p.Pro458_Leu459insTer)	BRCA2	Pathogenic	13	32906990	32906990	AT	A	reviewed by expert panel	ClinGen:CA10589091
Deletion	NM_000059.4(BRCA2):c.1404_1413del (p.Arg468fs)	BRCA2	Pathogenic	13	32907014	32907023	TAAGAGAGATG	T	reviewed by expert panel	ClinGen:CA10589092
Deletion	NM_000059.4(BRCA2):c.1433_1434del (p.Thr478fs)	BRCA2	Pathogenic	13	32907047	32907048	TAC	T	reviewed by expert panel	ClinGen:CA10589093
Duplication	NM_000059.4(BRCA2):c.1448_1451dupCAGT	BRCA2	Pathogenic	13	32907062	32907063	G	GCAGT	reviewed by expert panel	ClinGen:CA10589094
Indel	NM_000059.3(BRCA2):c.1449_1451delinsTTCC (p.Val484fs)	BRCA2	Pathogenic	13	32907064	32907066	AGT	TTCC	reviewed by expert panel	ClinGen:CA10589095
Deletion	NM_000059.4(BRCA2):c.1454del (p.Lys485fs)	BRCA2	Pathogenic	13	32907067	32907067	TA	T	reviewed by expert panel	ClinGen:CA10589096