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
single nucleotide variant	NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter)	MUTYH	Pathogenic	1	45798308	45798308	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA058460
single nucleotide variant	NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798627	45798627	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA057931
single nucleotide variant	NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)	MUTYH	Pathogenic	1	45798631	45798631	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577735
Duplication	NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)	MUTYH	Pathogenic/Likely pathogenic	1	45798772	45798773	C	CATCCAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577736
single nucleotide variant	NM_001048174.2(MUTYH):c.337C>T (p.Gln113Ter)	MUTYH	Pathogenic	1	45798810	45798810	G	A	criteria provided, single submitter	ClinGen:CA10577738
single nucleotide variant	NM_001048174.2(MUTYH):c.305-1G>C	MUTYH	Pathogenic	1	45798843	45798843	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577740
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.1351G>T (p.Glu451Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45796895	45796895	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581802
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
Duplication	NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)	MUTYH	Pathogenic	1	45799099	45799100	G	GT	criteria provided, single submitter	ClinGen:CA10581812