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_001048174.2(MUTYH):c.856C>T (p.Gln286Ter)	MUTYH	Pathogenic	1	45797752	45797752	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014709
single nucleotide variant	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH	Pathogenic/Likely pathogenic	1	45798117	45798117	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014226
single nucleotide variant	NM_000038.6(APC):c.637C>T (p.Arg213Ter)	APC	Pathogenic	5	112116592	112116592	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011131
Duplication	NM_000038.6(APC):c.935dup (p.Glu313fs)	APC	Pathogenic/Likely pathogenic	5	112154663	112154664	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA164300
single nucleotide variant	NM_001048174.2(MUTYH):c.1103-2A>G	MUTYH	Pathogenic/Likely pathogenic	1	45797230	45797230	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012245
Deletion	NM_000038.6(APC):c.147_150del (p.Lys49fs)	APC	Pathogenic	5	112102032	112102035	TAAAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005200
Deletion	NM_001048174.2(MUTYH):c.49del (p.Ala17fs)	MUTYH	Pathogenic	1	45800129	45800129	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014621
single nucleotide variant	NM_000038.6(APC):c.220+2T>A	APC	Pathogenic/Likely pathogenic	5	112102109	112102109	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007244
Duplication	NM_000038.6(APC):c.2680_2686dup (p.Ala896fs)	APC	Pathogenic	5	112173970	112173971	A	AGTGTCAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA166045
Deletion	NM_000038.6(APC):c.2004del (p.His668_Leu669insTer)	APC	Pathogenic	5	112173295	112173295	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007161