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_005612.5(REST):c.2413del (p.Leu805fs)	REST	Likely pathogenic	4	57797434	57797434	TC	T	criteria provided, single submitter	ClinGen:CA645372752,OMIM:600571.0006
single nucleotide variant	NM_005612.5(REST):c.2227G>T (p.Glu743Ter)	REST	Pathogenic	4	57797251	57797251	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_005612.5(REST):c.1310T>A (p.Leu437Ter)	REST	Likely pathogenic	4	57796334	57796334	T	A	criteria provided, single submitter	ClinGen:CA357006327,OMIM:600571.0005
Deletion	NM_005612.5(REST):c.831_832del (p.Cys278fs)	REST	Pathogenic	4	57777635	57777636	CAT	C	criteria provided, single submitter	ClinGen:CA351626,OMIM:600571.0001
Duplication	NM_005612.5(REST):c.265dup (p.Glu89fs)	REST	Pathogenic	4	57777068	57777069	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.9924C>A (p.Tyr3308Ter)	BRCA2	Pathogenic	13	32972574	32972574	C	A	reviewed by expert panel	ClinGen:CA10589578
single nucleotide variant	NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)	BRCA2	Pathogenic	13	32972574	32972574	C	G	reviewed by expert panel	ClinGen:CA026332
single nucleotide variant	NM_000059.4(BRCA2):c.9919A>T (p.Lys3307Ter)	BRCA2	Pathogenic	13	32972569	32972569	A	T	criteria provided, single submitter	ClinGen:CA387767049
single nucleotide variant	NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32972545	32972545	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387766882
Duplication	NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)	BRCA2	Pathogenic	13	32972540	32972541	C	CATTT	reviewed by expert panel	ClinGen:CA026323