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
single nucleotide variant	NM_000059.4(BRCA2):c.9257-2A>G	BRCA2	Pathogenic/Likely pathogenic	13	32968824	32968824	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602565
Duplication	NM_000059.4(BRCA2):c.9257-2_9261dup	BRCA2	Pathogenic	13	32968822	32968823	C	CTAGGACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602566
Deletion	NM_000059.4(BRCA2):c.9499_9501+2del	BRCA2	Pathogenic	13	32969067	32969071	TTGAGG	T	criteria provided, single submitter	ClinGen:CA10602567
single nucleotide variant	NM_000059.4(BRCA2):c.9501+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32969071	32969071	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602568
Duplication	NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs)	BRCA2	Pathogenic	13	32914046	32914047	G	GT	reviewed by expert panel	ClinGen:CA10603292
Duplication	NM_000059.4(BRCA2):c.308dup (p.Leu103fs)	BRCA2	Pathogenic/Likely pathogenic	13	32893452	32893453	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042136
Deletion	NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs)	BRCA2	Likely pathogenic	13	32911568	32911569	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042138
single nucleotide variant	NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912966	32912966	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042139
Deletion	NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)	BRCA2	Pathogenic/Likely pathogenic	13	32913062	32913065	TTTTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042140
Deletion	NM_000059.4(BRCA2):c.5487_5488del (p.Leu1829fs)	BRCA2	Likely pathogenic	13	32913978	32913979	TTG	T	criteria provided, single submitter	ClinGen:CA16042141