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.3222_3225del (p.Ser1074fs)	BRCA2	Pathogenic	13	32911714	32911717	GTAGT	G	reviewed by expert panel	ClinGen:CA645372953
Deletion	NM_000059.4(BRCA2):c.3344del (p.Ser1115fs)	BRCA2	Pathogenic	13	32911836	32911836	TC	T	reviewed by expert panel	ClinGen:CA645372955
single nucleotide variant	NM_000059.4(BRCA2):c.4022C>A (p.Ser1341Ter)	BRCA2	Pathogenic	13	32912514	32912514	C	A	reviewed by expert panel	ClinGen:CA387779046
Deletion	NM_000059.4(BRCA2):c.4848_4851del (p.Ser1617fs)	BRCA2	Pathogenic	13	32913339	32913342	TTAAG	T	reviewed by expert panel	ClinGen:CA645372964
Deletion	NM_000059.4(BRCA2):c.5718del (p.Ser1907fs)	BRCA2	Pathogenic	13	32914210	32914210	AC	A	reviewed by expert panel	ClinGen:CA645372973
Deletion	NM_000059.4(BRCA2):c.6491del (p.Gln2164fs)	BRCA2	Pathogenic	13	32914983	32914983	CA	C	reviewed by expert panel	ClinGen:CA645372975
Deletion	NM_000059.4(BRCA2):c.7234del (p.Thr2412fs)	BRCA2	Pathogenic	13	32929221	32929221	TA	T	reviewed by expert panel	ClinGen:CA645372931
Deletion	NM_000059.4(BRCA2):c.7331del (p.Asp2444fs)	BRCA2	Pathogenic	13	32929321	32929321	GA	G	reviewed by expert panel	ClinGen:CA645372927
single nucleotide variant	NM_000059.4(BRCA2):c.7792G>T (p.Glu2598Ter)	BRCA2	Pathogenic	13	32932053	32932053	G	T	reviewed by expert panel	ClinGen:CA387746039
Indel	NM_000059.4(BRCA2):c.7977-3_7977-2delinsAG	BRCA2	Likely pathogenic	13	32937313	32937314	TA	AG	criteria provided, single submitter	ClinGen:CA645372928