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.649C>T (p.Arg217Cys)	MUTYH	Pathogenic	1	45798118	45798118	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011806
Duplication	NM_001127510.3(APC):c.1917dup (p.Arg640fs)	APC	Likely pathogenic	5	112170820	112170821	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA006371
Deletion	NM_000038.6(APC):c.3162del (p.His1054fs)	APC	Pathogenic	5	112174453	112174453	AC	A	criteria provided, single submitter	ClinGen:CA008092
single nucleotide variant	NM_000038.6(APC):c.694C>T (p.Arg232Ter)	APC	Pathogenic	5	112128191	112128191	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012693
single nucleotide variant	NM_000038.6(APC):c.2510C>G (p.Ser837Ter)	APC	Pathogenic	5	112173801	112173801	C	G	criteria provided, single submitter	ClinGen:CA007554
single nucleotide variant	NM_000038.6(APC):c.311C>A (p.Ser104Ter)	APC	Pathogenic	5	112102976	112102976	C	A	criteria provided, single submitter	ClinGen:CA008053
Deletion	NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)	APC	Pathogenic	5	112174471	112174475	TAAAAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008137
Deletion	NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)	APC	Pathogenic	5	112174490	112174493	ACAAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008161
single nucleotide variant	NM_000038.6(APC):c.1659G>A (p.Trp553Ter)	APC	Pathogenic	5	112164585	112164585	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005417
single nucleotide variant	NM_000038.6(APC):c.2365C>T (p.Gln789Ter)	APC	Pathogenic	5	112173656	112173656	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007382