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.638G>A (p.Arg213Gln)	MUTYH	Likely pathogenic	1	45798129	45798129	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610124
Duplication	NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs)	MUTYH	Pathogenic	1	45798824	45798825	A	ATGACCTCTGAGACC	criteria provided, single submitter	ClinGen:CA16610125
single nucleotide variant	NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798350	45798350	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA058359
single nucleotide variant	NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)	MUTYH	Pathogenic	1	45797148	45797148	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610132
single nucleotide variant	NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45797175	45797175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA055585
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
Duplication	NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs)	MUTYH	Likely pathogenic	1	45795077	45795078	G	GCA	criteria provided, single submitter	ClinGen:CA16610168
single nucleotide variant	NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter)	MUTYH	Pathogenic	1	45797134	45797134	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610172
single nucleotide variant	NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)	MUTYH	Pathogenic/Likely pathogenic	1	45797356	45797356	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610175
Deletion	NM_001048174.2(MUTYH):c.60del (p.Arg22fs)	MUTYH	Pathogenic	1	45800118	45800118	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610207