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
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.378+2T>G	MUTYH	Likely pathogenic	1	45798767	45798767	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340136052
single nucleotide variant	NM_001048174.2(MUTYH):c.379-1G>C	MUTYH	Pathogenic	1	45798632	45798632	C	G	criteria provided, single submitter	ClinGen:CA16610121
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.379A>T (p.Lys127Ter)	MUTYH	Pathogenic	1	45798631	45798631	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577735
Deletion	NM_001048174.2(MUTYH):c.381del (p.Lys127fs)	MUTYH	Pathogenic/Likely pathogenic	1	45798629	45798629	AC	A	criteria provided, multiple submitters, no conflicts	-
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.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.420+2T>C	MUTYH	Pathogenic/Likely pathogenic	1	45798588	45798588	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013687
Deletion	NM_001048174.2(MUTYH):c.420+19_420+31del	MUTYH	Pathogenic/Likely pathogenic	1	45798559	45798571	TCCTATTTCCCCTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA058004