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
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
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.1237del (p.Glu413fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797094	45797094	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617155
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.1272del (p.Tyr425fs)	MUTYH	Pathogenic	1	45796974	45796974	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656915
Duplication	NM_001048174.2(MUTYH):c.1311dup (p.Val438fs)	MUTYH	Likely pathogenic	1	45796934	45796935	C	CT	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs)	MUTYH	Pathogenic/Likely pathogenic	1	45796927	45796928	GGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656914
single nucleotide variant	NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45796895	45796895	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581802
single nucleotide variant	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH	Pathogenic	1	45796892	45796892	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011650,OMIM:604933.0005