家族性大腸腺腫症

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.694C>T (p.Gln232Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798073	45798073	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA059049
single nucleotide variant	NM_000038.6(APC):c.422+2T>C	APC	Pathogenic/Likely pathogenic	5	112103089	112103089	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584235
single nucleotide variant	NM_000038.6(APC):c.423-2A>T	APC	Pathogenic	5	112111324	112111324	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584236
single nucleotide variant	NM_000038.6(APC):c.477C>G (p.Tyr159Ter)	APC	Pathogenic	5	112111380	112111380	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584237
Duplication	NM_000038.6(APC):c.1239dup (p.Arg414fs)	APC	Pathogenic	5	112154967	112154968	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584239
single nucleotide variant	NM_000038.6(APC):c.1548G>C (p.Lys516Asn)	APC	Pathogenic	5	112162944	112162944	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584241
single nucleotide variant	NM_000038.6(APC):c.1958+3A>G	APC	Pathogenic	5	112170865	112170865	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584242
Deletion	NM_000038.6(APC):c.2395del (p.Tyr799fs)	APC	Pathogenic	5	112173685	112173685	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584243
Deletion	NM_000038.6(APC):c.2527_2530del (p.Ser843fs)	APC	Pathogenic	5	112173817	112173820	ATAGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584244
single nucleotide variant	NM_000038.6(APC):c.3306C>A (p.Tyr1102Ter)	APC	Pathogenic	5	112174597	112174597	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584247