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_000038.6(APC):c.7511G>A (p.Trp2504Ter)	APC	Pathogenic	5	112178802	112178802	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA248496
single nucleotide variant	NM_002528.7(NTHL1):c.685+1G>A	NTHL1	Pathogenic/Likely pathogenic	16	2093567	2093567	C	T	criteria provided, multiple submitters, no conflicts	OMIM:602656.0002,ClinGen:CA210446
single nucleotide variant	NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	MUTYH	Pathogenic/Likely pathogenic	1	45796229	45796229	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA056613
Deletion	NM_000038.6(APC):c.3404_3405del (p.Asp1134_Tyr1135insTer)	APC	Pathogenic	5	112174694	112174695	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA350349
Deletion	NM_000038.6(APC):c.3595_3596del (p.Lys1199fs)	APC	Pathogenic	5	112174885	112174886	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA348347
Deletion	NM_001048174.2(MUTYH):c.1017_1035del (p.Arg340fs)	MUTYH	Pathogenic	1	45797400	45797418	TGGCAGAGCTCTCCTCCCTG	T	criteria provided, single submitter	ClinGen:CA353501
single nucleotide variant	NM_000038.6(APC):c.562C>T (p.Gln188Ter)	APC	Pathogenic	5	112116517	112116517	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353493
Complex	chr5:112154359-112155228 complex variant	APC	Pathogenic	5	112154359	112155228	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1434+1G>T	MUTYH	Likely pathogenic	1	45796187	45796187	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577697
single nucleotide variant	NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45796859	45796859	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577699