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.3881T>G (p.Leu1294Ter)	BRCA2	Pathogenic	13	32912373	32912373	T	G	reviewed by expert panel	ClinGen:CA10589230
Deletion	NM_000059.4(BRCA2):c.3920_3941del (p.Glu1307fs)	BRCA2	Pathogenic	13	32912412	32912433	GAAGAAATTACTGAAAATTACAA	G	reviewed by expert panel	ClinGen:CA10589231
Deletion	NM_000059.4(BRCA2):c.3957_3958del (p.Asn1319fs)	BRCA2	Pathogenic	13	32912449	32912450	ATG	A	reviewed by expert panel	ClinGen:CA10589232
Deletion	NM_000059.4(BRCA2):c.3968_3971del (p.Lys1323fs)	BRCA2	Pathogenic	13	32912459	32912462	CAAAT	C	reviewed by expert panel	ClinGen:CA10589233
Deletion	NM_000059.4(BRCA2):c.3972_3975del (p.Lys1323_Tyr1324insTer)	BRCA2	Pathogenic	13	32912464	32912467	ATACT	A	reviewed by expert panel	ClinGen:CA10589235
Insertion	NM_000059.4(BRCA2):c.3978_3979insTTGC (p.Ala1327fs)	BRCA2	Pathogenic	13	32912470	32912471	T	TTTGC	reviewed by expert panel	ClinGen:CA10589236
Duplication	NM_000059.4(BRCA2):c.4021dup (p.Ser1341fs)	BRCA2	Pathogenic	13	32912511	32912512	A	AT	reviewed by expert panel	ClinGen:CA10589237
Indel	NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs)	BRCA2	Pathogenic	13	32912522	32912527	AATGAT	C	reviewed by expert panel	ClinGen:CA10589238
single nucleotide variant	NM_000059.4(BRCA2):c.4051A>T (p.Lys1351Ter)	BRCA2	Pathogenic	13	32912543	32912543	A	T	reviewed by expert panel	ClinGen:CA10589239
Duplication	NM_000059.4(BRCA2):c.4092dup (p.Cys1365fs)	BRCA2	Pathogenic	13	32912583	32912584	T	TA	reviewed by expert panel	ClinGen:CA10589240