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.379-1G>A	MUTYH	Likely pathogenic	1	45798632	45798632	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603709
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.1393-1G>A	MUTYH	Likely pathogenic	1	45796230	45796230	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040736
Duplication	NM_000038.6(APC):c.800dup (p.Glu268fs)	APC	Likely pathogenic	5	112137043	112137044	T	TG	criteria provided, single submitter	ClinGen:CA10602944
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
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.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.1409-6A>G	APC	Likely pathogenic	5	112162799	112162799	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588379
single nucleotide variant	NM_000038.6(APC):c.573T>A (p.Tyr191Ter)	APC	Likely pathogenic	5	112116528	112116528	T	A	criteria provided, single submitter	ClinGen:CA10588377
Deletion	NM_000038.6(APC):c.4647del (p.Glu1550fs)	APC	Likely pathogenic	5	112175937	112175937	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584252