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.210del (p.Ser71fs)	MUTYH	Pathogenic	1	45799139	45799139	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45799095	45799095	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.116-22G>T	MUTYH	Pathogenic	1	45799255	45799255	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.607-1G>A	MUTYH	Likely pathogenic	1	45798161	45798161	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.705G>A (p.Trp235Ter)	MUTYH	Pathogenic	1	45797982	45797982	C	T	criteria provided, single submitter	-
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.887C>A (p.Ser296Ter)	MUTYH	Pathogenic	1	45797721	45797721	G	T	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	-
Indel	NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs)	MUTYH	Likely pathogenic	1	45797146	45797148	TTC	G	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	-