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
Indel	NM_000059.3(BRCA2):c.8272_8273delinsTA (p.Leu2758Ter)	BRCA2	Pathogenic	13	32937611	32937612	CT	TA	reviewed by expert panel	ClinGen:CA10589475
Deletion	NM_000059.4(BRCA2):c.8276_8279del (p.Val2759fs)	BRCA2	Pathogenic	13	32937613	32937616	TGGTG	T	reviewed by expert panel	ClinGen:CA10589476
Duplication	NM_000059.4(BRCA2):c.8290dup (p.Ala2764fs)	BRCA2	Pathogenic	13	32937628	32937629	T	TG	reviewed by expert panel	ClinGen:CA10589478
single nucleotide variant	NM_000059.4(BRCA2):c.8295T>A (p.Cys2765Ter)	BRCA2	Pathogenic	13	32937634	32937634	T	A	reviewed by expert panel	ClinGen:CA10589479
Deletion	NM_000059.4(BRCA2):c.8301del (p.Glu2769fs)	BRCA2	Pathogenic	13	32937640	32937640	CT	C	reviewed by expert panel	ClinGen:CA10589480
Duplication	NM_000059.4(BRCA2):c.8316_8317dup (p.Ser2773fs)	BRCA2	Pathogenic	13	32937654	32937655	A	AAT	reviewed by expert panel	ClinGen:CA10589481
Insertion	NM_000059.4(BRCA2):c.8324_8325insA (p.Met2775fs)	BRCA2	Pathogenic	13	32937663	32937664	T	TA	reviewed by expert panel	ClinGen:CA10589482
Deletion	NM_000059.4(BRCA2):c.8327_8331del (p.Leu2776fs)	BRCA2	Pathogenic	13	32937666	32937670	TTAAAG	T	reviewed by expert panel	ClinGen:CA10589483
single nucleotide variant	NM_000059.4(BRCA2):c.8329A>T (p.Lys2777Ter)	BRCA2	Pathogenic	13	32937668	32937668	A	T	reviewed by expert panel	ClinGen:CA10589484
Deletion	NM_000059.4(BRCA2):c.8330del (p.Lys2777fs)	BRCA2	Pathogenic	13	32937667	32937667	TA	T	reviewed by expert panel	ClinGen:CA10589485