MUTYH関連ポリポーシス

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.268G>T (p.Glu90Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798993	45798993	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340136310
single nucleotide variant	NM_001048174.2(MUTYH):c.305-2A>G	MUTYH	Pathogenic/Likely pathogenic	1	45798844	45798844	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA337713
single nucleotide variant	NM_001048174.2(MUTYH):c.305-1G>C	MUTYH	Pathogenic	1	45798843	45798843	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577740
single nucleotide variant	NM_001048174.2(MUTYH):c.305-1G>A	MUTYH	Pathogenic	1	45798843	45798843	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013479
single nucleotide variant	NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg)	MUTYH	Pathogenic/Likely pathogenic	1	45798840	45798840	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013507
single nucleotide variant	NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798838	45798838	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013516
Deletion	NM_001048174.2(MUTYH):c.310del (p.Val104fs)	MUTYH	Pathogenic	1	45798837	45798837	AC	A	criteria provided, single submitter	ClinGen:CA658656934
Duplication	NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs)	MUTYH	Pathogenic	1	45798824	45798825	A	ATGACCTCTGAGACC	criteria provided, single submitter	ClinGen:CA16610125
Deletion	NM_001048174.2(MUTYH):c.337del (p.Gln113fs)	MUTYH	Pathogenic	1	45798810	45798810	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656933
single nucleotide variant	NM_001048174.2(MUTYH):c.337C>T (p.Gln113Ter)	MUTYH	Pathogenic	1	45798810	45798810	G	A	criteria provided, single submitter	ClinGen:CA10577738