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
Duplication	NM_000038.6(APC):c.1530dup (p.Gly511fs)	APC	Pathogenic/Likely pathogenic	5	112162922	112162923	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.5659_5663del (p.Asn1887fs)	APC	Pathogenic/Likely pathogenic	5	112176948	112176952	GAAAAT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.5669C>G (p.Ser1890Ter)	APC	Pathogenic/Likely pathogenic	5	112176960	112176960	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798452	45798452	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45800135	45800135	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001048174.2(MUTYH):c.1311dup (p.Val438fs)	MUTYH	Likely pathogenic	1	45796934	45796935	C	CT	criteria provided, single submitter	-
Indel	NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs)	MUTYH	Likely pathogenic	1	45797146	45797148	TTC	G	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.-6-2A>G	MUTYH	Likely pathogenic	1	45800185	45800185	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.6150_6151del (p.Lys2052fs)	APC	Likely pathogenic	5	112177440	112177441	AAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.887C>A (p.Ser296Ter)	MUTYH	Pathogenic	1	45797721	45797721	G	T	criteria provided, single submitter	-