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_000038.6(APC):c.1705del (p.Ser568_Val569insTer)	APC	Pathogenic/Likely pathogenic	5	112164631	112164631	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655950
single nucleotide variant	NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798993	45798993	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340136310
single nucleotide variant	NM_001048174.2(MUTYH):c.1102+1G>T	MUTYH	Pathogenic/Likely pathogenic	1	45797332	45797332	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340133234
Deletion	NM_001048174.2(MUTYH):c.1017del (p.Arg340fs)	MUTYH	Pathogenic	1	45797418	45797418	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA522810414
single nucleotide variant	NM_000038.6(APC):c.135+2T>C	APC	Likely pathogenic	5	112090724	112090724	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA360617456
single nucleotide variant	NM_000038.6(APC):c.154C>T (p.Gln52Ter)	APC	Pathogenic	5	112102041	112102041	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16021682
single nucleotide variant	NM_000038.6(APC):c.4634C>A (p.Ser1545Ter)	APC	Pathogenic	5	112175925	112175925	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16031485
Duplication	NM_000038.6(APC):c.2107dup (p.Ala703fs)	APC	Pathogenic	5	112173393	112173394	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA445963414
single nucleotide variant	NM_000038.6(APC):c.1409-2A>T	APC	Likely pathogenic	5	112162803	112162803	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA360619889
Deletion	NM_000038.6(APC):c.2711_2712del (p.Arg904fs)	APC	Pathogenic	5	112174001	112174002	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645562860