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.1798_1802del (p.Tyr600fs)	BRCA2	Pathogenic	13	32907413	32907417	TTATAA	T	reviewed by expert panel	ClinGen:CA10589120
Indel	NM_000059.3(BRCA2):c.1811_1812delinsG (p.Lys604fs)	BRCA2	Pathogenic	13	32907426	32907427	AA	G	reviewed by expert panel	ClinGen:CA10589121
Deletion	NM_000059.4(BRCA2):c.1841_1844del (p.Ile614fs)	BRCA2	Pathogenic	13	32907453	32907456	CTAAT	C	reviewed by expert panel	ClinGen:CA10589122
Deletion	NM_000059.4(BRCA2):c.1845_1846del (p.Asn615fs)	BRCA2	Pathogenic	13	32907460	32907461	ACT	A	reviewed by expert panel	ClinGen:CA10589123
Insertion	NM_000059.4(BRCA2):c.1888_1889insAA (p.Thr630fs)	BRCA2	Pathogenic	13	32907502	32907503	T	TAA	reviewed by expert panel	ClinGen:CA10589124
Deletion	NM_000059.4(BRCA2):c.1888del (p.Thr630fs)	BRCA2	Pathogenic	13	32907503	32907503	TA	T	reviewed by expert panel	ClinGen:CA10589125
Insertion	NM_000059.4(BRCA2):c.1900_1901insTT (p.Ala634fs)	BRCA2	Pathogenic	13	32907515	32907516	G	GTT	reviewed by expert panel	ClinGen:CA10589126
single nucleotide variant	NM_000059.4(BRCA2):c.1913T>G (p.Leu638Ter)	BRCA2	Pathogenic	13	32910405	32910405	T	G	reviewed by expert panel	ClinGen:CA10589127
Insertion	NM_000059.4(BRCA2):c.1923_1924insAT (p.Ser642fs)	BRCA2	Pathogenic	13	32910414	32910415	C	CTA	reviewed by expert panel	ClinGen:CA10589128
single nucleotide variant	NM_000059.4(BRCA2):c.1943C>G (p.Ser648Ter)	BRCA2	Pathogenic	13	32910435	32910435	C	G	reviewed by expert panel	ClinGen:CA10589129