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
Insertion	NM_000059.4(BRCA2):c.9704_9705insG (p.Lys3236fs)	BRCA2	Pathogenic	13	32972354	32972355	C	CG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9716_9717insAT (p.Val3240fs)	BRCA2	Pathogenic	13	32972366	32972367	C	CAT	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.1062dup (p.Val355fs)	BRCA2	Pathogenic/Likely pathogenic	13	32906674	32906675	A	AT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3767del (p.His1256fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912259	32912259	CA	C	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000059.4(BRCA2):c.4624_4625insCG (p.Val1542fs)	BRCA2	Likely pathogenic	13	32913115	32913116	A	AGC	criteria provided, single submitter	-
Insertion	NM_000059.4(BRCA2):c.5216_5217insAATA (p.Tyr1739Ter)	BRCA2	Likely pathogenic	13	32913706	32913707	T	TTAAA	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs)	BRCA2	Pathogenic/Likely pathogenic	13	32914295	32914295	A	TT	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000059.4(BRCA2):c.6712_6713insGG (p.Asp2238fs)	BRCA2	Likely pathogenic	13	32915203	32915204	T	TGG	criteria provided, single submitter	-
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.82_147del (p.Leu29_Ser50del)	BRCA2	Likely pathogenic	13	32893227	32893292	TAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGA	T	criteria provided, single submitter	-