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.7007+2T>A	BRCA2	Pathogenic	13	32921035	32921035	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602536
single nucleotide variant	NM_000059.4(BRCA2):c.7008-1G>T	BRCA2	Pathogenic	13	32928997	32928997	G	T	criteria provided, single submitter	ClinGen:CA10602537
Insertion	NM_000059.3:c.7338_7339ins4	BRCA2	Pathogenic	13	32929328	32929329	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7435+1G>C	BRCA2	Pathogenic	13	32929426	32929426	G	C	criteria provided, single submitter	ClinGen:CA6941091
single nucleotide variant	NM_000059.4(BRCA2):c.7436-2A>G	BRCA2	Pathogenic	13	32930563	32930563	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602538
single nucleotide variant	NM_000059.4(BRCA2):c.7436-1G>C	BRCA2	Pathogenic	13	32930564	32930564	G	C	criteria provided, single submitter	ClinGen:CA10602539
single nucleotide variant	NM_000059.4(BRCA2):c.7618-2A>G	BRCA2	Pathogenic	13	32931877	32931877	A	G	reviewed by expert panel	ClinGen:CA10602540
single nucleotide variant	NM_000059.4(BRCA2):c.7805+2T>G	BRCA2	Pathogenic	13	32932068	32932068	T	G	criteria provided, single submitter	ClinGen:CA10602541
single nucleotide variant	NM_000059.4(BRCA2):c.7806-2A>T	BRCA2	Pathogenic/Likely pathogenic	13	32936658	32936658	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602542
single nucleotide variant	NM_000059.4(BRCA2):c.7976+2C>A	BRCA2	Pathogenic	13	32936832	32936832	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602543