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
Deletion	NM_001048174.2(MUTYH):c.1213del (p.Ala405fs)	MUTYH	Pathogenic	1	45797118	45797118	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656918
Deletion	NM_001048174.2(MUTYH):c.879del (p.Ser294fs)	MUTYH	Pathogenic	1	45797729	45797729	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA059792
single nucleotide variant	NM_001048174.2(MUTYH):c.378+2T>G	MUTYH	Likely pathogenic	1	45798767	45798767	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340136052
single nucleotide variant	NM_001048174.2(MUTYH):c.493-2A>G	MUTYH	Likely pathogenic	1	45798361	45798361	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340135492
Deletion	NM_001048174.2(MUTYH):c.310del (p.Val104fs)	MUTYH	Pathogenic	1	45798837	45798837	AC	A	criteria provided, single submitter	ClinGen:CA658656934
Deletion	NM_001048174.2(MUTYH):c.492+1del	MUTYH	Likely pathogenic	1	45798434	45798434	AC	A	criteria provided, single submitter	ClinGen:CA658656928
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
single nucleotide variant	NM_001048174.2(MUTYH):c.606G>A (p.Gln202=)	MUTYH	Pathogenic/Likely pathogenic	1	45798246	45798246	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA21838430
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
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