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.43C>T (p.Gln15Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45800135	45800135	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001048174.2(MUTYH):c.49del (p.Ala17fs)	MUTYH	Pathogenic	1	45800129	45800129	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014621
Deletion	NM_001048174.2(MUTYH):c.60del (p.Arg22fs)	MUTYH	Pathogenic	1	45800118	45800118	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610207
Deletion	NC_000001.11:g.(?_45329300)_(45333609_?)del	MUTYH	Pathogenic	1	45794972	45799281	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.116-22G>T	MUTYH	Pathogenic	1	45799255	45799255	C	A	criteria provided, single submitter	-
Deletion	NM_001128425.2(MUTYH):c.200del (p.Gly67fs)	MUTYH	Pathogenic/Likely pathogenic	1	45799233	45799233	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA055834
single nucleotide variant	NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45799185	45799185	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA057154
Duplication	NM_001048174.2(MUTYH):c.192dup (p.Val65fs)	MUTYH	Pathogenic	1	45799156	45799157	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)	MUTYH	Pathogenic	1	45799144	45799144	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013297
Deletion	NM_001048174.2(MUTYH):c.210del (p.Ser71fs)	MUTYH	Pathogenic	1	45799139	45799139	TC	T	criteria provided, multiple submitters, no conflicts	-