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.2754del (p.Asn918fs)	BRCA2	Pathogenic	13	32911246	32911246	AC	A	reviewed by expert panel	ClinGen:CA645509341
single nucleotide variant	NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)	BRCA2	Pathogenic	13	32906472	32906472	C	G	reviewed by expert panel	ClinGen:CA387760554
Deletion	NM_000059.4(BRCA2):c.-5_11del (p.Met1fs)	BRCA2	Pathogenic	13	32890591	32890606	AGGTAAAAATGCCTATT	A	criteria provided, single submitter	ClinGen:CA645509355
single nucleotide variant	NM_000059.4(BRCA2):c.1736T>G (p.Leu579Ter)	BRCA2	Pathogenic	13	32907351	32907351	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16021323
single nucleotide variant	NM_000059.4(BRCA2):c.2T>A (p.Met1Lys)	BRCA2	Pathogenic/Likely pathogenic	13	32890599	32890599	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387752876
single nucleotide variant	NM_000059.4(BRCA2):c.67+2T>G	BRCA2	Pathogenic/Likely pathogenic	13	32890666	32890666	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387753128
Deletion	NM_000059.4(BRCA2):c.495del (p.His166fs)	BRCA2	Pathogenic	13	32900396	32900396	GT	G	reviewed by expert panel	ClinGen:CA645372978
Deletion	NM_000059.4(BRCA2):c.1332_1333del (p.Ser445fs)	BRCA2	Pathogenic	13	32906947	32906948	ATT	A	reviewed by expert panel	ClinGen:CA645372945
single nucleotide variant	NM_000059.4(BRCA2):c.1658T>G (p.Leu553Ter)	BRCA2	Pathogenic	13	32907273	32907273	T	G	reviewed by expert panel	ClinGen:CA387765024
Deletion	NM_000059.4(BRCA2):c.3096del (p.Asp1033fs)	BRCA2	Pathogenic	13	32911586	32911586	CA	C	reviewed by expert panel	ClinGen:CA645372952