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
Deletion	NM_000038.6(APC):c.937_938del (p.Glu313fs)	APC	Pathogenic	5	112154666	112154667	GGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015990,OMIM:611731.0038
single nucleotide variant	NM_000038.6(APC):c.2093T>A (p.Leu698Ter)	APC	Pathogenic	5	112173384	112173384	T	A	criteria provided, single submitter	ClinGen:CA007187,OMIM:611731.0039
single nucleotide variant	NM_000038.6(APC):c.423-1G>A	APC	Pathogenic	5	112111325	112111325	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009189,OMIM:611731.0043
single nucleotide variant	NM_000038.6(APC):c.622C>T (p.Gln208Ter)	APC	Pathogenic	5	112116577	112116577	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011031,OMIM:611731.0047
Deletion	NG_008481.4:g.(?_150033)_(158719_?)del	APC	Pathogenic	5	112173250	112181936	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH	Pathogenic/Likely pathogenic	1	45798475	45798475	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011761,OMIM:604933.0001
single nucleotide variant	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH	Pathogenic/Likely pathogenic	1	45797228	45797228	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011561,OMIM:604933.0002
single nucleotide variant	NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45799121	45799121	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013334,OMIM:604933.0004
single nucleotide variant	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH	Pathogenic	1	45796892	45796892	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011650,OMIM:604933.0005
Deletion	NM_002439.5(MSH3):c.1148del (p.Lys383fs)	MSH3	Pathogenic/Likely pathogenic	5	79970915	79970915	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119871,OMIM:600887.0001