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.4098_4099insCATC (p.Lys1367fs)	BRCA2	Pathogenic	13	32912590	32912591	T	TCATC	reviewed by expert panel	ClinGen:CA10589241
Deletion	NM_000059.4(BRCA2):c.4124del (p.Glu1375fs)	BRCA2	Pathogenic	13	32912616	32912616	GA	G	reviewed by expert panel	ClinGen:CA10589242
Deletion	NM_000059.4(BRCA2):c.4146_4149del (p.Glu1382fs)	BRCA2	Pathogenic	13	32912638	32912641	AAGAT	A	reviewed by expert panel	ClinGen:CA10589243
Duplication	NM_000059.4(BRCA2):c.4169dup (p.Leu1390fs)	BRCA2	Pathogenic	13	32912655	32912656	C	CT	reviewed by expert panel	ClinGen:CA10589244
single nucleotide variant	NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter)	BRCA2	Pathogenic	13	32912703	32912703	C	G	reviewed by expert panel	ClinGen:CA10589245
Deletion	NM_000059.4(BRCA2):c.4221del (p.Glu1407fs)	BRCA2	Pathogenic	13	32912712	32912712	GA	G	reviewed by expert panel	ClinGen:CA10589246
Insertion	NM_000059.4(BRCA2):c.4229_4230insA (p.Ala1411fs)	BRCA2	Pathogenic	13	32912721	32912722	C	CA	reviewed by expert panel	ClinGen:CA10589247
Deletion	NM_000059.4(BRCA2):c.4264_4270del (p.Glu1422fs)	BRCA2	Pathogenic	13	32912754	32912760	TTTGAGAC	T	reviewed by expert panel	ClinGen:CA10589248
Insertion	NM_000059.4(BRCA2):c.4285_4286insT (p.Gln1429fs)	BRCA2	Pathogenic	13	32912777	32912778	C	CT	reviewed by expert panel	ClinGen:CA10589249
Deletion	NM_000059.4(BRCA2):c.4304del (p.Asn1435fs)	BRCA2	Pathogenic	13	32912792	32912792	GA	G	reviewed by expert panel	ClinGen:CA10589250