MUTYH関連ポリポーシス

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_001048174.2(MUTYH):c.1392_1392+6del	MUTYH	Likely pathogenic	1	45796848	45796854	GTAGTGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346797
single nucleotide variant	NM_001048174.2(MUTYH):c.421-2A>C	MUTYH	Likely pathogenic	1	45798508	45798508	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013693
single nucleotide variant	NM_001048174.2(MUTYH):c.420+2T>G	MUTYH	Likely pathogenic	1	45798588	45798588	A	C	criteria provided, single submitter	ClinGen:CA336154
single nucleotide variant	NM_001048174.2(MUTYH):c.1434+1G>T	MUTYH	Likely pathogenic	1	45796187	45796187	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577697
single nucleotide variant	NM_001048174.2(MUTYH):c.1240-1G>T	MUTYH	Likely pathogenic	1	45797007	45797007	C	A	criteria provided, single submitter	ClinGen:CA10577706
Deletion	NM_001048174.2(MUTYH):c.1468del (p.Ser490fs)	MUTYH	Likely pathogenic	1	45795076	45795076	CT	C	criteria provided, single submitter	ClinGen:CA10581799
single nucleotide variant	NM_001048174.2(MUTYH):c.606+1G>T	MUTYH	Likely pathogenic	1	45798245	45798245	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581808
single nucleotide variant	NM_001048174.2(MUTYH):c.1393-1G>A	MUTYH	Likely pathogenic	1	45796230	45796230	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040736
single nucleotide variant	NM_001048174.2(MUTYH):c.379-1G>A	MUTYH	Likely pathogenic	1	45798632	45798632	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603709
single nucleotide variant	NM_001048174.2(MUTYH):c.849+2T>G	MUTYH	Likely pathogenic	1	45797836	45797836	A	C	criteria provided, single submitter	ClinGen:CA16610117