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.3260_3261del (p.Leu1087fs)	APC	Pathogenic	5	112174550	112174551	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008203
Deletion	NM_000038.6(APC):c.6373_6376del (p.Ser2125fs)	APC	Pathogenic	5	112177662	112177665	TTATC	T	criteria provided, single submitter	ClinGen:CA011114
single nucleotide variant	NM_000038.6(APC):c.4216C>T (p.Gln1406Ter)	APC	Pathogenic	5	112175507	112175507	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008967
Deletion	NM_000038.6(APC):c.426_427del (p.Leu143fs)	APC	Pathogenic	5	112111329	112111330	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009418
single nucleotide variant	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH	Pathogenic	1	45797201	45797201	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012325
single nucleotide variant	NM_001048174.2(MUTYH):c.420+2T>C	MUTYH	Pathogenic/Likely pathogenic	1	45798588	45798588	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013687
Deletion	NM_000038.6(APC):c.1101del (p.Val368fs)	APC	Pathogenic	5	112154830	112154830	CT	C	criteria provided, single submitter	ClinGen:CA004053
single nucleotide variant	NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)	MUTYH	Pathogenic	1	45798112	45798112	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014247
single nucleotide variant	NM_000038.6(APC):c.3286C>T (p.Gln1096Ter)	APC	Pathogenic	5	112174577	112174577	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008233
Deletion	NM_000038.6(APC):c.2107del (p.Ala703fs)	APC	Pathogenic	5	112173394	112173394	TG	T	criteria provided, single submitter	ClinGen:CA007193