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.9728del (p.Pro3243fs)	BRCA2	Pathogenic	13	32972377	32972377	AC	A	reviewed by expert panel	ClinGen:CA026286
Insertion	NM_000059.4(BRCA2):c.9716_9717insAT (p.Val3240fs)	BRCA2	Pathogenic	13	32972366	32972367	C	CAT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9717_9718insAT (p.Val3240fs)	BRCA2	Pathogenic	13	32972366	32972367	C	CTA	criteria provided, single submitter	ClinGen:CA10579843
Deletion	NM_000059.4(BRCA2):c.9711del (p.Lys3238fs)	BRCA2	Likely pathogenic	13	32972360	32972360	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.9706A>T (p.Lys3236Ter)	BRCA2	Pathogenic	13	32972356	32972356	A	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000059.4(BRCA2):c.9704_9705insG (p.Lys3236fs)	BRCA2	Pathogenic	13	32972354	32972355	C	CG	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972347	32972350	TTGTA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9927&base_change=del TATG,ClinGen:CA026270
Deletion	NM_000059.4(BRCA2):c.9693del (p.Leu3232fs)	BRCA2	Pathogenic	13	32972343	32972343	CA	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9689del (p.Leu3230fs)	BRCA2	Pathogenic	13	32972337	32972337	CT	C	reviewed by expert panel	ClinGen:CA6941439
Deletion	NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)	BRCA2	Pathogenic	13	32972330	32972330	CA	C	reviewed by expert panel	ClinGen:CA026267