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.1468del (p.Ser490fs)	MUTYH	Likely pathogenic	1	45795076	45795076	CT	C	criteria provided, single submitter	ClinGen:CA10581799
Duplication	NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs)	MUTYH	Likely pathogenic	1	45795077	45795078	G	GCA	criteria provided, single submitter	ClinGen:CA16610168
single nucleotide variant	NM_001048174.2(MUTYH):c.1434+1G>T	MUTYH	Likely pathogenic	1	45796187	45796187	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577697
single nucleotide variant	NM_001048174.2(MUTYH):c.1407T>G (p.Tyr469Ter)	MUTYH	Likely pathogenic	1	45796215	45796215	A	C	criteria provided, single submitter	ClinGen:CA16617152
single nucleotide variant	NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	MUTYH	Pathogenic/Likely pathogenic	1	45796229	45796229	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA056613
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
Deletion	NM_001048174.2(MUTYH):c.1393-2_1393-1del	MUTYH	Likely pathogenic	1	45796230	45796231	CCT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000001.11:g.(?_45329300)_(45330563_?)del	MUTYH	Likely pathogenic	1	45794972	45796235	na	na	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.1392_1392+6del	MUTYH	Likely pathogenic	1	45796848	45796854	GTAGTGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346797
single nucleotide variant	NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45796856	45796856	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338021