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.224G>A (p.Trp75Ter)	MUTYH	Pathogenic	1	45799125	45799125	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340136412
single nucleotide variant	NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45799121	45799121	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013334,OMIM:604933.0004
single nucleotide variant	NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	MUTYH	Pathogenic/Likely pathogenic	1	45799108	45799108	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013370
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	-
Duplication	NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)	MUTYH	Pathogenic	1	45799099	45799100	G	GT	criteria provided, single submitter	ClinGen:CA10581812
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.264+1G>A	MUTYH	Likely pathogenic	1	45799084	45799084	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.264+1G>T	MUTYH	Likely pathogenic	1	45799084	45799084	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340136330
Deletion	NC_000001.11:g.(?_45329296)_(45333334_?)del	MUTYH	Pathogenic	1	45794968	45799006	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_45329306)_(45333324_?)del	MUTYH	Pathogenic	1	45794978	45798996	na	na	criteria provided, single submitter	-