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_002439.5(MSH3):c.574C>T (p.Gln192Ter)	MSH3	Pathogenic/Likely pathogenic	5	79961177	79961177	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.316C>T (p.Gln106Ter)	MSH3	Pathogenic/Likely pathogenic	5	79952308	79952308	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.7803_7807del (p.Ser2601fs)	APC	Pathogenic/Likely pathogenic	5	112179090	112179094	CAAAGT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.7489dup (p.Ser2497fs)	APC	Pathogenic/Likely pathogenic	5	112178778	112178779	A	AT	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000038.6(APC):c.3793_3794insCTT (p.Glu1265delinsAlaTer)	APC	Pathogenic/Likely pathogenic	5	112175084	112175085	G	GCTT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1A>G (p.Met1Val)	MUTYH	Pathogenic/Likely pathogenic	1	45800177	45800177	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.1958+1_1958+2dup	APC	Pathogenic/Likely pathogenic	5	112170862	112170863	G	GGT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.3317del (p.Gly1106fs)	APC	Pathogenic/Likely pathogenic	5	112174605	112174605	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45799095	45799095	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.1341T>A (p.Cys447Ter)	APC	Pathogenic/Likely pathogenic	5	112157621	112157621	T	A	criteria provided, multiple submitters, no conflicts	-