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.1240-1G>T	MUTYH	Likely pathogenic	1	45797007	45797007	C	A	criteria provided, single submitter	ClinGen:CA10577706
single nucleotide variant	NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)	MUTYH	Pathogenic/Likely pathogenic	1	45797924	45797924	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577722
single nucleotide variant	NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter)	MUTYH	Pathogenic	1	45798308	45798308	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA058460
single nucleotide variant	NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798627	45798627	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA057931
single nucleotide variant	NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)	MUTYH	Pathogenic	1	45798631	45798631	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577735
Duplication	NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)	MUTYH	Pathogenic/Likely pathogenic	1	45798772	45798773	C	CATCCAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577736
single nucleotide variant	NM_001048174.2(MUTYH):c.337C>T (p.Gln113Ter)	MUTYH	Pathogenic	1	45798810	45798810	G	A	criteria provided, single submitter	ClinGen:CA10577738
single nucleotide variant	NM_001048174.2(MUTYH):c.305-1G>C	MUTYH	Pathogenic	1	45798843	45798843	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577740
single nucleotide variant	NM_000038.6(APC):c.220G>T (p.Glu74Ter)	APC	Pathogenic/Likely pathogenic	5	112102107	112102107	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578284
single nucleotide variant	NM_000038.6(APC):c.221-1G>C	APC	Pathogenic/Likely pathogenic	5	112102885	112102885	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578285