MUTYH関連ポリポーシス

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.43C>T (p.Gln15Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45800135	45800135	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798452	45798452	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001048174.2(MUTYH):c.381del (p.Lys127fs)	MUTYH	Pathogenic/Likely pathogenic	1	45798629	45798629	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs)	MUTYH	Pathogenic	1	45797126	45797135	GGGCCCAGCCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372119
Indel	NM_001048174.2(MUTYH):c.725delinsAG (p.Val242fs)	MUTYH	Pathogenic	1	45797962	45797962	A	CT	criteria provided, single submitter	ClinGen:CA658795452
Deletion	NM_001048174.2(MUTYH):c.940_962del (p.Cys314fs)	MUTYH	Pathogenic	1	45797473	45797495	CCAGGGCTCCGAGGGAGGCAGGCA	C	criteria provided, single submitter	ClinGen:CA658795451
Duplication	NC_000001.10:g.(?_45800057)_(45800189_?)dup	MUTYH	Likely pathogenic	1	45800057	45800189	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_45329300)_(45333609_?)del	MUTYH	Pathogenic	1	45794972	45799281	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_45332568)_(45334517_?)del	MUTYH	Pathogenic	1	45798240	45800189	na	na	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)	MUTYH	Pathogenic/Likely pathogenic	1	45798503	45798503	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683153