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.745_757del (p.Ser249fs)	BRCA2	Pathogenic	13	32905119	32905131	TTCTGTGACAGACA	T	reviewed by expert panel	ClinGen:CA645372986
Duplication	NM_000059.4(BRCA2):c.1889_1890dup (p.Phe631fs)	BRCA2	Pathogenic	13	32907502	32907503	T	TAC	reviewed by expert panel	ClinGen:CA645372949
Duplication	NM_000059.4(BRCA2):c.2398_2423dup (p.Leu809fs)	BRCA2	Pathogenic	13	32910888	32910889	A	AAGGTAACAATTATGAATCTGATGTTG	reviewed by expert panel	ClinGen:CA645372950
Deletion	NM_000059.4(BRCA2):c.3308del (p.Asn1102_Leu1103insTer)	BRCA2	Pathogenic	13	32911798	32911798	AT	A	reviewed by expert panel	ClinGen:CA645372954
single nucleotide variant	NM_000059.4(BRCA2):c.3328G>T (p.Glu1110Ter)	BRCA2	Pathogenic	13	32911820	32911820	G	T	reviewed by expert panel	ClinGen:CA387776265
Deletion	NM_000059.4(BRCA2):c.3454_3455del (p.Leu1152fs)	BRCA2	Pathogenic	13	32911946	32911947	CTT	C	reviewed by expert panel	ClinGen:CA645372956
Deletion	NM_000059.4(BRCA2):c.3481_3491del (p.Asp1161fs)	BRCA2	Pathogenic	13	32911973	32911983	AGATGCTGATCT	A	reviewed by expert panel	ClinGen:CA645372957
Indel	NM_000059.3(BRCA2):c.3683delinsGG (p.Asn1228fs)	BRCA2	Pathogenic	13	32912175	32912175	A	GG	reviewed by expert panel	ClinGen:CA645372958
Duplication	NM_000059.4(BRCA2):c.7580dup (p.Gly2528fs)	BRCA2	Pathogenic	13	32930708	32930709	G	GT	reviewed by expert panel	ClinGen:CA645372940
Duplication	NM_000059.4(BRCA2):c.9014_9017dup (p.Tyr3006Ter)	BRCA2	Pathogenic	13	32953945	32953946	G	GAGAT	reviewed by expert panel	ClinGen:CA645372936