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
single nucleotide variant	NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)	BRCA2	Pathogenic	13	32954253	32954253	G	T	reviewed by expert panel	ClinGen:CA026041
Insertion	NM_000059.4(BRCA2):c.9384_9385insG (p.Pro3129fs)	BRCA2	Pathogenic	13	32968953	32968954	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9612&base_change=ins G,ClinGen:CA026129
Duplication	NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)	BRCA2	Pathogenic	13	32972321	32972322	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9900&base_change=ins A,ClinGen:CA026263,OMIM:600185.0019
Deletion	NM_000059.4(BRCA2):c.9152del (p.Pro3051fs)	BRCA2	Pathogenic	13	32954177	32954177	GC	G	reviewed by expert panel	ClinGen:CA026005
Deletion	NM_000059.3(BRCA2):c.(?_-1)_67+?del	BRCA2	Pathogenic	13	32890470	32890470	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)	BRCA2	Pathogenic/Likely pathogenic	13	32937507	32937507	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025485
Indel	NM_000059.4(BRCA2):c.9256_9256+1delinsTA	BRCA2	Pathogenic/Likely pathogenic	13	32954282	32954283	GG	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA164149
Deletion	NM_000059.4(BRCA2):c.3351del (p.Ile1117_Leu1118insTer)	BRCA2	Pathogenic	13	32911843	32911843	TA	T	reviewed by expert panel	ClinGen:CA017828
Deletion	NM_000059.4(BRCA2):c.6331_6332del (p.Lys2111fs)	BRCA2	Pathogenic	13	32914823	32914824	TAA	T	reviewed by expert panel	ClinGen:CA023923
single nucleotide variant	NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)	BRCA2	Pathogenic	13	32910831	32910831	C	G	reviewed by expert panel	ClinGen:CA014999