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
Insertion	NM_000059.4(BRCA2):c.995_996insA (p.His334fs)	BRCA2	Pathogenic	13	32906610	32906611	T	TA	reviewed by expert panel	ClinGen:CA10589066
single nucleotide variant	NM_000059.4(BRCA2):c.1023T>A (p.Cys341Ter)	BRCA2	Pathogenic	13	32906638	32906638	T	A	reviewed by expert panel	ClinGen:CA10589067
Duplication	NM_000059.4(BRCA2):c.1053dup (p.Tyr352fs)	BRCA2	Pathogenic	13	32906663	32906664	G	GA	reviewed by expert panel	ClinGen:CA10589068
single nucleotide variant	NM_000059.4(BRCA2):c.1058C>A (p.Ser353Ter)	BRCA2	Pathogenic	13	32906673	32906673	C	A	reviewed by expert panel	ClinGen:CA10589069
single nucleotide variant	NM_000059.4(BRCA2):c.1058C>G (p.Ser353Ter)	BRCA2	Pathogenic	13	32906673	32906673	C	G	reviewed by expert panel	ClinGen:CA10589070
Deletion	NM_000059.4(BRCA2):c.1069del (p.Glu357fs)	BRCA2	Pathogenic	13	32906684	32906684	TG	T	reviewed by expert panel	ClinGen:CA10589071
single nucleotide variant	NM_000059.4(BRCA2):c.1097T>G (p.Leu366Ter)	BRCA2	Pathogenic	13	32906712	32906712	T	G	reviewed by expert panel	ClinGen:CA10589072
single nucleotide variant	NM_000059.4(BRCA2):c.1184G>A (p.Trp395Ter)	BRCA2	Pathogenic	13	32906799	32906799	G	A	reviewed by expert panel	ClinGen:CA10589073
Insertion	NM_000059.4(BRCA2):c.1189_1190insCAAC (p.Gln397fs)	BRCA2	Pathogenic	13	32906803	32906804	T	TCCAA	reviewed by expert panel	ClinGen:CA10589074
Insertion	NM_000059.4(BRCA2):c.1189_1190insTTAT (p.Gln397fs)	BRCA2	Pathogenic	13	32906804	32906805	C	CTTAT	reviewed by expert panel	ClinGen:CA10589075