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.8967_8973del (p.Trp2990fs)	BRCA2	Pathogenic	13	32953899	32953905	ATTTGGCG	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs)	BRCA2	Pathogenic/Likely pathogenic	13	32953637	32953640	AAAAG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.8805_8806dup (p.Leu2936fs)	BRCA2	Pathogenic	13	32953502	32953503	A	ATG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8729_8738del (p.Asn2910fs)	BRCA2	Pathogenic	13	32950900	32950909	AAGAATGCAGC	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8403del (p.Pro2802fs)	BRCA2	Pathogenic	13	32944607	32944607	CT	C	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.7816dup (p.Asp2606fs)	BRCA2	Pathogenic	13	32936669	32936670	T	TG	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7745_7751del (p.Ala2582fs)	BRCA2	Pathogenic	13	32932003	32932009	TTGGCTGA	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7676_7677del (p.Ser2559fs)	BRCA2	Pathogenic	13	32931936	32931937	GTC	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7572dup (p.Ala2525fs)	BRCA2	Pathogenic	13	32930698	32930699	G	GA	criteria provided, single submitter	-
Insertion	NM_000059.4(BRCA2):c.6832_6833insAA (p.Ile2278fs)	BRCA2	Pathogenic	13	32915323	32915324	T	TAA	criteria provided, single submitter	-