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_001128425.2(MUTYH):c.36+1G>A	MUTYH	Likely pathogenic	1	45805890	45805890	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340137825
Duplication	NC_000001.10:g.(?_45800057)_(45800189_?)dup	MUTYH	Likely pathogenic	1	45800057	45800189	na	na	criteria provided, single submitter	-
Duplication	NM_001048174.2(MUTYH):c.1311dup (p.Val438fs)	MUTYH	Likely pathogenic	1	45796934	45796935	C	CT	criteria provided, single submitter	-
Indel	NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs)	MUTYH	Likely pathogenic	1	45797146	45797148	TTC	G	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.-6-2A>G	MUTYH	Likely pathogenic	1	45800185	45800185	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro)	MUTYH	Likely pathogenic	1	45799101	45799101	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.607-1G>A	MUTYH	Likely pathogenic	1	45798161	45798161	C	T	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.1393-2_1393-1del	MUTYH	Likely pathogenic	1	45796230	45796231	CCT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.264+1G>A	MUTYH	Likely pathogenic	1	45799084	45799084	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH	Pathogenic	1	45796892	45796892	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011650,OMIM:604933.0005