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_000038.6(APC):c.531+5G>A	APC	Pathogenic/Likely pathogenic	5	112111439	112111439	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010191
Deletion	NM_000038.6(APC):c.6383del (p.Ala2128fs)	APC	Pathogenic	5	112177674	112177674	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011140
single nucleotide variant	NM_000038.6(APC):c.646C>T (p.Arg216Ter)	APC	Pathogenic	5	112128143	112128143	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012198
Duplication	NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797186	45797187	T	TCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA011586,LOVD 3:MUTYH_000078,OMIM:604933.0008
single nucleotide variant	NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)	MUTYH	Pathogenic	1	45797507	45797507	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011953
single nucleotide variant	NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)	MUTYH	Pathogenic	1	45800165	45800165	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013854
single nucleotide variant	NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798838	45798838	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013516
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_000038.6(APC):c.5936_5939del (p.Asn1979fs)	APC	Pathogenic	5	112177225	112177228	AAAAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010795
single nucleotide variant	NM_001048174.2(MUTYH):c.1102+1G>A	MUTYH	Pathogenic/Likely pathogenic	1	45797332	45797332	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012227