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_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	NTHL1	Pathogenic/Likely pathogenic	16	2090005	2090005	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.4638_4639del (p.Asn1546fs)	APC	Pathogenic/Likely pathogenic	5	112175929	112175930	ATG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.1594C>T (p.Gln532Ter)	APC	Pathogenic/Likely pathogenic	5	112163671	112163671	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.5507del (p.Gly1836fs)	APC	Pathogenic/Likely pathogenic	5	112176797	112176797	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.3670_3671dup (p.Asn1224fs)	APC	Pathogenic/Likely pathogenic	5	112174960	112174961	T	TAA	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	-
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_000038.6(APC):c.5669C>G (p.Ser1890Ter)	APC	Pathogenic/Likely pathogenic	5	112176960	112176960	C	G	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	-
Duplication	NM_000038.6(APC):c.1530dup (p.Gly511fs)	APC	Pathogenic/Likely pathogenic	5	112162922	112162923	C	CT	criteria provided, multiple submitters, no conflicts	-