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.3171_3172del (p.Lys1058fs)	BRCA2	Pathogenic	13	32911662	32911663	AAG	A	reviewed by expert panel	ClinGen:CA10589190
single nucleotide variant	NM_000059.4(BRCA2):c.3217C>T (p.Gln1073Ter)	BRCA2	Pathogenic	13	32911709	32911709	C	T	reviewed by expert panel	ClinGen:CA10589191
single nucleotide variant	NM_000059.4(BRCA2):c.3244A>T (p.Lys1082Ter)	BRCA2	Pathogenic	13	32911736	32911736	A	T	reviewed by expert panel	ClinGen:CA10589192
Deletion	NM_000059.4(BRCA2):c.3248del (p.Asn1083fs)	BRCA2	Pathogenic	13	32911736	32911736	TA	T	reviewed by expert panel	ClinGen:CA10589193
Duplication	NM_000059.4(BRCA2):c.3248dup (p.Asn1083fs)	BRCA2	Pathogenic	13	32911735	32911736	T	TA	reviewed by expert panel	ClinGen:CA10589194
Duplication	NM_000059.4(BRCA2):c.3263dup (p.Gln1089fs)	BRCA2	Pathogenic	13	32911751	32911752	A	AC	reviewed by expert panel	ClinGen:CA10589195
Deletion	NM_000059.4(BRCA2):c.3283del (p.Gln1095fs)	BRCA2	Pathogenic	13	32911775	32911775	GC	G	reviewed by expert panel	ClinGen:CA10589196
Duplication	NM_000059.4(BRCA2):c.3303_3336dup (p.Glu1113Ter)	BRCA2	Pathogenic	13	32911792	32911793	C	CCATAATTTAACACCTAGCCAAAAGGCAGAAATTA	reviewed by expert panel	ClinGen:CA10589197
Deletion	NM_000059.4(BRCA2):c.3335del (p.Thr1112fs)	BRCA2	Pathogenic	13	32911827	32911827	AC	A	reviewed by expert panel	ClinGen:CA10589198
Deletion	NM_000059.4(BRCA2):c.3337_3338del (p.Glu1113fs)	BRCA2	Pathogenic	13	32911828	32911829	CAG	C	reviewed by expert panel	ClinGen:CA10589199