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.264+1G>A	MUTYH	Likely pathogenic	1	45799084	45799084	C	T	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.1393-2_1393-1del	MUTYH	Likely pathogenic	1	45796230	45796231	CCT	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001048174.2(MUTYH):c.-6-95_42delinsC	MUTYH	Pathogenic	1	45800136	45800278	CTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCAT	G	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_45329296)_(45333334_?)del	MUTYH	Pathogenic	1	45794968	45799006	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1A>G (p.Met1Val)	MUTYH	Pathogenic/Likely pathogenic	1	45800177	45800177	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001048174.2(MUTYH):c.192dup (p.Val65fs)	MUTYH	Pathogenic	1	45799156	45799157	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001048174.2(MUTYH):c.549_576del (p.Leu184fs)	MUTYH	Pathogenic	1	45798276	45798303	CAGCTGTGTAGCGCCCCACGCCAGGCAGG	C	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter)	MUTYH	Pathogenic	1	45798063	45798063	C	T	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer)	MUTYH	Pathogenic	1	45797197	45797197	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter)	MUTYH	Pathogenic	1	45797151	45797151	G	A	criteria provided, single submitter	-