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_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45805892	45805892	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617170
single nucleotide variant	NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)	MUTYH	Pathogenic	1	45805891	45805891	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340137829
single nucleotide variant	NM_001128425.2(MUTYH):c.36+1G>A	MUTYH	Likely pathogenic	1	45805890	45805890	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340137825
single nucleotide variant	NM_001048174.2(MUTYH):c.-6-2A>G	MUTYH	Likely pathogenic	1	45800185	45800185	T	C	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)	MUTYH	Pathogenic	1	45800165	45800165	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013854
Indel	NM_001048174.2(MUTYH):c.-6-95_42delinsC	MUTYH	Pathogenic	1	45800136	45800278	CTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCAT	G	criteria provided, single submitter	-
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	-
Deletion	NM_001048174.2(MUTYH):c.49del (p.Ala17fs)	MUTYH	Pathogenic	1	45800129	45800129	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014621
Deletion	NM_001048174.2(MUTYH):c.60del (p.Arg22fs)	MUTYH	Pathogenic	1	45800118	45800118	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610207