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.775del (p.Ala259fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797912	45797912	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA059378
single nucleotide variant	NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)	MUTYH	Pathogenic/Likely pathogenic	1	45797951	45797951	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA059263
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.1272del (p.Tyr425fs)	MUTYH	Pathogenic	1	45796974	45796974	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656915
Deletion	NM_001048174.2(MUTYH):c.-6-1317_583del	MUTYH	Pathogenic	1	45798269	45801500	ATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAG	A	criteria provided, single submitter	ClinGen:CA658656926
Deletion	NM_001048174.2(MUTYH):c.337del (p.Gln113fs)	MUTYH	Pathogenic	1	45798810	45798810	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656933
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
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.879del (p.Ser294fs)	MUTYH	Pathogenic	1	45797729	45797729	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA059792
single nucleotide variant	NM_001048174.2(MUTYH):c.378+2T>G	MUTYH	Likely pathogenic	1	45798767	45798767	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340136052