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.1240-1G>T	MUTYH	Likely pathogenic	1	45797007	45797007	C	A	criteria provided, single submitter	ClinGen:CA10577706
Deletion	NM_001048174.2(MUTYH):c.1237del (p.Glu413fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797094	45797094	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617155
Deletion	NM_001048174.2(MUTYH):c.1213del (p.Ala405fs)	MUTYH	Pathogenic	1	45797118	45797118	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656918
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
single nucleotide variant	NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter)	MUTYH	Pathogenic	1	45797134	45797134	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610172
Indel	NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs)	MUTYH	Likely pathogenic	1	45797146	45797148	TTC	G	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)	MUTYH	Pathogenic	1	45797148	45797148	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610132
single nucleotide variant	NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter)	MUTYH	Pathogenic	1	45797151	45797151	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45797175	45797175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA055585
Duplication	NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797186	45797187	T	TCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA011586,LOVD 3:MUTYH_000078,OMIM:604933.0008