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.3739del (p.Ile1247fs)	BRCA2	Pathogenic	13	32912231	32912231	TA	T	reviewed by expert panel	ClinGen:CA10589220
Deletion	NM_000059.4(BRCA2):c.3741del (p.Ser1248fs)	BRCA2	Pathogenic	13	32912232	32912232	AT	A	reviewed by expert panel	ClinGen:CA10589221
Duplication	NM_000059.4(BRCA2):c.3779dup (p.Leu1260fs)	BRCA2	Pathogenic	13	32912268	32912269	G	GT	reviewed by expert panel	ClinGen:CA10589222
single nucleotide variant	NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter)	BRCA2	Pathogenic	13	32912304	32912304	C	G	reviewed by expert panel	ClinGen:CA10589223
Insertion	NM_000059.4(BRCA2):c.3814_3815insC (p.Met1272fs)	BRCA2	Pathogenic	13	32912306	32912307	A	AC	reviewed by expert panel	ClinGen:CA10589224
Duplication	NM_000059.4(BRCA2):c.3819dup (p.Lys1274Ter)	BRCA2	Pathogenic	13	32912308	32912309	G	GT	reviewed by expert panel	ClinGen:CA10589225
Deletion	NM_000059.4(BRCA2):c.3829_3830del (p.Asn1277fs)	BRCA2	Pathogenic	13	32912319	32912320	GAA	G	reviewed by expert panel	ClinGen:CA10589226
Deletion	NM_000059.4(BRCA2):c.3861_3864del (p.Asn1287fs)	BRCA2	Pathogenic	13	32912353	32912356	ATAAT	A	reviewed by expert panel	ClinGen:CA10589227
Deletion	NM_000059.4(BRCA2):c.3866_3869del (p.Lys1289fs)	BRCA2	Pathogenic	13	32912358	32912361	AAATG	A	reviewed by expert panel	ClinGen:CA10589228
Duplication	NM_000059.4(BRCA2):c.3867dup (p.Cys1290fs)	BRCA2	Pathogenic	13	32912356	32912357	T	TA	reviewed by expert panel	ClinGen:CA10589229