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
Deletion	NM_000038.6(APC):c.1548+3_1548+4del	APC	Likely pathogenic	5	112162946	112162947	GTA	G	criteria provided, single submitter	ClinGen:CA10588381
single nucleotide variant	NM_000038.6(APC):c.1715T>A (p.Leu572Ter)	APC	Likely pathogenic	5	112164641	112164641	T	A	criteria provided, single submitter	ClinGen:CA10588382
Deletion	NM_000038.6(APC):c.4741del (p.Ser1581fs)	APC	Likely pathogenic	5	112176030	112176030	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588385
Duplication	NM_000038.6(APC):c.800dup (p.Glu268fs)	APC	Likely pathogenic	5	112137043	112137044	T	TG	criteria provided, single submitter	ClinGen:CA10602944
single nucleotide variant	NM_001048174.2(MUTYH):c.1393-1G>A	MUTYH	Likely pathogenic	1	45796230	45796230	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040736
Deletion	NM_000038.6(APC):c.3013_3019del (p.Ala1005fs)	APC	Likely pathogenic	5	112174302	112174308	CTAGCCCA	C	criteria provided, single submitter	ClinGen:CA16042093
single nucleotide variant	NM_001048174.2(MUTYH):c.379-1G>A	MUTYH	Likely pathogenic	1	45798632	45798632	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603709
single nucleotide variant	NM_001048174.2(MUTYH):c.849+2T>G	MUTYH	Likely pathogenic	1	45797836	45797836	A	C	criteria provided, single submitter	ClinGen:CA16610117
Deletion	NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs)	MUTYH	Likely pathogenic	1	45797418	45797419	TGG	T	criteria provided, single submitter	ClinGen:CA16610119
single nucleotide variant	NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln)	MUTYH	Likely pathogenic	1	45798129	45798129	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610124