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.9868del (p.Val3290fs)	BRCA2	Pathogenic	13	32972518	32972518	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):10096&base_change=del G,ClinGen:CA026317
Deletion	NM_000059.4(BRCA2):c.9850_9866del (p.Ser3284fs)	BRCA2	Likely pathogenic	13	32972498	32972514	GTTAGTCCCATTTGTACA	G	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.9846dup (p.Val3283fs)	BRCA2	Pathogenic	13	32972495	32972496	C	CT	reviewed by expert panel	ClinGen:CA10589576
single nucleotide variant	NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter)	BRCA2	Pathogenic	13	32972486	32972486	T	A	reviewed by expert panel	ClinGen:CA10589575
Deletion	NM_000059.4(BRCA2):c.9824del (p.Ser3275fs)	BRCA2	Pathogenic	13	32972474	32972474	AG	A	reviewed by expert panel	ClinGen:CA026307
Duplication	NM_000059.4(BRCA2):c.9810dup (p.Asp3272fs)	BRCA2	Pathogenic	13	32972458	32972459	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683837
Deletion	NM_000059.4(BRCA2):c.9808del (p.Ala3270fs)	BRCA2	Pathogenic	13	32972458	32972458	AG	A	reviewed by expert panel	ClinGen:CA026301
Deletion	NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs)	BRCA2	Pathogenic	13	32972438	32972439	AAG	A	reviewed by expert panel	ClinGen:CA10589574
single nucleotide variant	NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter)	BRCA2	Likely pathogenic	13	32972434	32972434	C	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9777del (p.Ile3259fs)	BRCA2	Pathogenic	13	32972426	32972426	AT	A	criteria provided, multiple submitters, no conflicts	-