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.739_740insAG (p.Ile247fs)	BRCA2	Pathogenic	13	32905113	32905114	A	AAG	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.800dup (p.Thr269fs)	BRCA2	Pathogenic	13	32906413	32906414	T	TG	reviewed by expert panel	ClinGen:CA645509359
Insertion	NM_000059.4(BRCA2):c.896_897insC (p.Val300fs)	BRCA2	Pathogenic	13	32906511	32906512	T	TC	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.904dup (p.Thr302fs)	BRCA2	Pathogenic	13	32906518	32906519	T	TA	reviewed by expert panel	-
single nucleotide variant	NM_000059.4(BRCA2):c.926C>G (p.Ser309Ter)	BRCA2	Pathogenic	13	32906541	32906541	C	G	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.994_995insG (p.Ile332fs)	BRCA2	Pathogenic	13	32906609	32906610	A	AG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1188_1189insTTAG (p.Gln397fs)	BRCA2	Pathogenic	13	32906803	32906804	T	TTTAG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1188_1189insTTAT (p.Gln397fs)	BRCA2	Pathogenic	13	32906802	32906803	C	CTTTA	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.1189_1192dup (p.Leu398fs)	BRCA2	Pathogenic	13	32906803	32906804	T	TCAAC	reviewed by expert panel	-
single nucleotide variant	NM_000059.4(BRCA2):c.1337T>A (p.Leu446Ter)	BRCA2	Pathogenic	13	32906952	32906952	T	A	reviewed by expert panel	-