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.1325C>A (p.Ser442Ter)	BRCA2	Pathogenic	13	32906940	32906940	C	A	reviewed by expert panel	ClinGen:CA011601
Deletion	NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)	BRCA2	Pathogenic	13	32911322	32911323	TAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3062&base_change=del AA,ClinGen:CA016544
Deletion	NM_000059.4(BRCA2):c.2835del (p.Asp946fs)	BRCA2	Pathogenic	13	32911322	32911322	TA	T	reviewed by expert panel	ClinGen:CA016557
Indel	NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)	BRCA2	Pathogenic/Likely pathogenic	13	32907432	32907434	CGA	TTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA013422
Indel	NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer)	BRCA2	Pathogenic	13	32911567	32911568	GA	TT	reviewed by expert panel	ClinGen:CA017179
Deletion	NM_000059.4(BRCA2):c.5195del (p.Leu1732fs)	BRCA2	Pathogenic	13	32913687	32913687	CT	C	reviewed by expert panel	ClinGen:CA021647
Duplication	NM_000059.4(BRCA2):c.5364dup (p.Lys1789fs)	BRCA2	Pathogenic	13	32913854	32913855	T	TC	reviewed by expert panel	ClinGen:CA022147
Insertion	NM_000059.4(BRCA2):c.5343_5344insA (p.Gln1782fs)	BRCA2	Likely pathogenic	13	32913835	32913836	T	TA	criteria provided, single submitter	ClinGen:CA022051
Deletion	NM_000059.4(BRCA2):c.5352del (p.Asn1784fs)	BRCA2	Pathogenic	13	32913844	32913844	AC	A	reviewed by expert panel	ClinGen:CA022119
Deletion	NM_000059.4(BRCA2):c.5584_5587del (p.Val1862fs)	BRCA2	Pathogenic	13	32914075	32914078	AAGTG	A	reviewed by expert panel	ClinGen:CA022639