家族性大腸腺腫症

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.379-1G>A	MUTYH	Likely pathogenic	1	45798632	45798632	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603709
single nucleotide variant	NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45797472	45797472	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610113
single nucleotide variant	NM_001048174.2(MUTYH):c.849+2T>G	MUTYH	Likely pathogenic	1	45797836	45797836	A	C	criteria provided, single submitter	ClinGen:CA16610117
Deletion	NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs)	MUTYH	Likely pathogenic	1	45797418	45797419	TGG	T	criteria provided, single submitter	ClinGen:CA16610119
single nucleotide variant	NM_001048174.2(MUTYH):c.379-1G>C	MUTYH	Pathogenic	1	45798632	45798632	C	G	criteria provided, single submitter	ClinGen:CA16610121
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