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.5826_5827del (p.Val1942_Ser1943insTer)	BRCA2	Pathogenic	13	32914317	32914318	GTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798122
Deletion	NM_000059.4(BRCA2):c.6971_6972del (p.His2324fs)	BRCA2	Pathogenic	13	32920997	32920998	CAT	C	criteria provided, single submitter	ClinGen:CA658798100
Deletion	NM_000059.4(BRCA2):c.8191del (p.Gln2731fs)	BRCA2	Pathogenic	13	32937528	32937528	GC	G	criteria provided, single submitter	ClinGen:CA658798132
single nucleotide variant	NM_000059.4(BRCA2):c.8562T>A (p.Tyr2854Ter)	BRCA2	Pathogenic	13	32945167	32945167	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387752802
Insertion	NM_000059.4(BRCA2):c.9270_9271insTATTT (p.Val3091fs)	BRCA2	Pathogenic	13	32968839	32968840	C	CTATTT	criteria provided, single submitter	ClinGen:CA658798089
Deletion	NM_000059.4(BRCA2):c.274del (p.Gln92fs)	BRCA2	Pathogenic	13	32893419	32893419	AC	A	criteria provided, single submitter	ClinGen:CA658798086
single nucleotide variant	NM_000059.4(BRCA2):c.516+2T>C	BRCA2	Pathogenic	13	32900421	32900421	T	C	criteria provided, single submitter	ClinGen:CA387757754
Deletion	NM_000059.4(BRCA2):c.918_919del (p.Asp306fs)	BRCA2	Pathogenic	13	32906532	32906533	GAT	G	criteria provided, single submitter	ClinGen:CA658798114
Deletion	NM_000059.4(BRCA2):c.1342del (p.Arg448fs)	BRCA2	Pathogenic	13	32906957	32906957	AC	A	criteria provided, single submitter	ClinGen:CA658798123
single nucleotide variant	NM_000059.4(BRCA2):c.1490C>G (p.Ser497Ter)	BRCA2	Pathogenic	13	32907105	32907105	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387764450