ウィルムス腫瘍

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.3448_3449insAG (p.Thr1150fs)	BRCA2	Pathogenic	13	32911940	32911941	A	AAG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.3813_3814insC (p.Met1272fs)	BRCA2	Pathogenic	13	32912305	32912306	A	AC	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4006_4007insCATC (p.Phe1336fs)	BRCA2	Pathogenic	13	32912498	32912499	T	TCATC	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.4012_4013dup (p.Ser1339fs)	BRCA2	Pathogenic	13	32912503	32912504	T	TGG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4096_4097insCATC (p.Leu1366fs)	BRCA2	Pathogenic	13	32912586	32912587	G	GTCCA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4160_4161insGGAAG (p.Thr1388fs)	BRCA2	Pathogenic	13	32912652	32912653	T	TGGAAG	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.4353_4359del (p.Pro1454fs)	BRCA2	Pathogenic	13	32912844	32912850	GATCAGAA	G	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4401_4402insA (p.Ser1468fs)	BRCA2	Pathogenic	13	32912893	32912894	T	TA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4505_4506insT (p.Gln1502fs)	BRCA2	Pathogenic	13	32912997	32912998	A	AT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.4539_4540insCGAT (p.Glu1514delinsArgTer)	BRCA2	Pathogenic	13	32913028	32913029	T	TGATC	reviewed by expert panel	-