リンチ症候群 - MGenReviews

リンチ症候群

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_000251.3(MSH2):c.1076+1G>T	MSH2	Likely pathogenic	2	47643569	47643569	G	T	reviewed by expert panel	ClinGen:CA017079
Duplication	NM_000251.3(MSH2):c.1077-135_1276+119dup	MSH2	Pathogenic	2	47656744	47656745	G	GTGAGCCACTGCGCCCAGCAGATTCAAGCTTTTTAAATGGAATTTTGAGCTGATTTAGTTGAGACTTACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGTGATTTTGTTTTTTTGTTTTCCTTCAACTCATACAATATATACTTGGCAATGTGCTGTCCTCATAAAGTTGGTGGTGGTGACTCACTCTTAGGACACATTCAGATTTCTT	reviewed by expert panel	ClinGen:CA331219
single nucleotide variant	NM_000251.3(MSH2):c.1077-1G>C	MSH2	Likely pathogenic	2	47656880	47656880	G	C	reviewed by expert panel	ClinGen:CA017136
single nucleotide variant	NM_000251.3(MSH2):c.1077-1G>T	MSH2	Likely pathogenic	2	47656880	47656880	G	T	reviewed by expert panel	ClinGen:CA017143
Deletion	NM_000251.3(MSH2):c.1077-220_1276+6245del	MSH2	Pathogenic	2	47656653	47663317	CGGGGTTTCTCCATGTTGGTCAGGCCAGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCAGATTCAAGCTTTTTAAATGGAATTTTGAGCTGATTTAGTTGAGACTTACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGTGATTTTGTTTTTTTGTTTTCCTTCAACTCATACAATATATACTTGGCAATGTGCTGTCCTCATAAAGTTGGTGGTGGTGACTCACTCTTAGGACACATTCAGATTTCTTTTTTTTTTTTTTTTGAGAAGGAGTCTTGCTCCGTTGCCAAGGCTAGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTTGTACTTTTAGTTTTACCATGTTGGCCAGGTTCGTCTGGAACTCCCAATCTCAGGTGACCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACAGAGCCTGGCCATGTTCAGACTTCTAATAACAGGTTTGTATTGACTCTTAGCCTCATGGCAGAAGCCAAGAGACATGAGACAGCTTAGAAATTTTTGCTTTTTGGAAATGAATGTTAGAGTTACTGGTTTGTGATTAAGGCCTATTGCACTGACAGAGGCAGTGAAAAAGGGTTTGATTGCCAAGGAAGATTCACAGGGCCTAGAATGGCAGTGGTTATGCATCTACAGTTTATTACAGGAGAAGGATACAATCCAGTAGCAGGATTATGGTAAGGATATGCATCACAGTCAAAGGCTGTCATAGCAAGTCATCCAGAGAGTTCGGGTGCAAGTTCCAGTTTTCCTTTGTTGTGTAAAGTCTGTGGTGGGGTGCATTTTCTCTCTCAGAGCAGGATGTGTGCACAGGACACCTTGGAACCTAGGAGCCCAAAATAGAGTCTTCACTGGACTTTTTAATATTTTTCTTGTCAAGCGGACATGTTCCTGTTCTCTAACTAGCCTCTTCAGTGGAGGTCAGAGGAAGAGCCTCATTGAGACCAAGTGCAACTCATCAATCACATGAAACAATGCTGATAAATAAACCACCTAAATATCCCCTGACCCACAAATACAAAACAACACCATTCAATCAGTATTTTTCATGCCTTGATCAGGGGTCATTGCCATGCAGGAACTTTAACAAAACAGTACAGGCTAATAATAGAATTGTTGGAATTAACTCACACAGCACACCTATGAGAGAGAGTTAAGATAGAGGGTCTTGGTGGTCTCTAACAGTTGAATTCAAAGTGAAGTTACCAGAGTAAAGTGAGCAAAGACACATATTAGTACAATATTGGTAGATAAAATCACGTTGCTCTAATAAGCATAGTTTTAAACTTTAACCATGTTTCTCCAGTAATTTTAGTAATTATATTGTTGTTATGTCTAATACATAAAGCATTTTTTACTTTTTTAAAAAATTTTTAGGCAATGTGGGGTCCAAAGTAATTAAAAAAAAATTTTTTTAACATAAAGCATCTTAAAATTTTACTTAATCATGATCACTTAGAACCATTAAAACATACGTTTTGATATTATGGGGAAGCTTCGTTGTTCCTTTGTAGACAGACTTAAAGAAATACAACTTTATGATGACAAGATATAAGATAATTATAGATTTAAATTTTATAGAAACCTTTTCCCTTATCTAGTGCAAGAGGTAGCTAAGTGCTTATTTTCTCAAAGTACTGTGTTATAAAAAGTATTCCTAGTGTAGTCAAAGCTTCTCTTTAGACTGATAAAACTTAGAGCACCTGCATTTACTTCCAACAAAGCAGAATTAAAGAAAATGAGACTTGGCCGGGTACGTTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTTAGGAGATCAAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCTGACATGGTGGTGCGCACCTGTAGTCCCAGCTTCTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCGCTCCAGCTTGGGCAACAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAATGAGTCTTTACTGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGACGGGCAGATCACCTGAGGTCGGGCATTCGAGACCAGCCTGACCAATATGGAGAAACCCCATTTGTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCGGAGGTTGCGGTGAGCAGAGATCGTGCCGTTGCACTCCATTCTGGGCAACAAGAGCGAAACTCTCCATCTCAAAAAAAAGAAAATGAGTCTATACTTTGCTGTTTTCATACTCTCTTAGTGTGGTGTAGGCAGCCATGTATCCCCCTTGTGCCTCTATTTCTCCATTCTGTGAATGAGTGTCTTCCACTGCTGTGCTTTTCTGATTCCGTAACCTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCACAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAATGAGCGTGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCACCCTTAATCCGTTCAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAATAATTTTTCGTAGTACAGAACAAAATGAAAAGTCTCCCACGTCTACCTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGAGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTACCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCTCCCCGCCTCCCTCCCGGATGGGGTGGCTGGCCGGGTTGGGGGCTGACCCCCCGCACCTCCCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTGCCTCCAGGACGGGGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACATCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTCTCTCCTGGCTGGGCGGCTGGCTGGGCGGGGGGATGACCCCCCCATCTCCCTCCTGGATGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCACCTCCCTTCCGGACGGGGTGGCTGCCGGGCGCAGACGCTCCTCACTTCCCAGACGGAGTGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGTGTGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACATCCCAGACGGGGCGGCAGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCTGGTAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGAGGCTCCTCACATCCCGGACGATGGGCGGCCAGGCAGAGATGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGCGGGGCCAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAACTGAGATCACGCCACTGCACCCCAGCCTGGGCACCATTGAGCACTGAGTGAACGCGACTCCGTCTGACATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAATACCAAAACCAGTCAGGCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGTAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGGGGGAGACCATGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAACCTTTTGTTTTATTCCAGTAGGACCAGCTAGAAACAGAAGGTGATTGACCAGTATTAGGGATGGAATCAGGGTACAATTATGGAGACAGGCTATCTAAACAATTCACTCTCACCATTTAAATCAGCTGTTTGATCATTTTTTTTCCATATATCTTTACCATCGCATAGTAAATAATATCCTTTTTATTTTCAAGAGGGAGTATTGGCCTTAAGTTAGGAACTCTCTTAATTTTTTTCCCCCATCATCCCACCCGCACTTCTTACTCCTTACTTCCTACTTGCTTTTATTCTTTACTGGCTCTTTACCACTGCGTATTTTTAGGTGCATACATCTATTTTTTAAAAAAGCACCCTTGTTCCTGGGTCCTCTTCCAGTACCATCTATTAATATATCTCTCTCCCTCTTTCCACTCCCAGCTGGGTTTCTGAAAGCGTGCACTTCCCATCTTCCATTCATTCATCTGGTTTCCAGCCCTGACCACAGTACTGAAATGGCATTTGCTAGGTGACCTTTATTTTTTTTTAAATCCAGTGAATGCGGTATAGTCCCCCCGCTTTTTTCTTTCTTTTTTTTTTTTTGTTTTTTGTTTTTTGTTTTTTTGAGACAGAGTTTTGCCCTTGTTGCCCAGGCTGGAGTACAATGGCGTGATATCGGCTCACGGCAACCTATGCCTCCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGATTACAGGCACCTGCCACCACAGCTGGCTAATTTTGTATTTTTAGTAGAGATGGGTTTTCTCGATGTTGGTCAGGCTGGTTTCGAACTCCCGACCTGAGGTGATCCACACACCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTTGGTATAGTCTTTAACGAAAGTTCACTGATCTTGAAAATTTTGATCTTGAAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTAGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACTACATTGGCCAGGATGGTCTTGAACTCCTGACCTCATGATCCACCCACCTCGGACCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCCAGCCTTGAAACTCTCCTAAGGTTATGTTAAACATTTTTGTATTCTTGGTTTTCTTTTTGTTCCATGGGTTATTTCTCTTTATCCTTCTTTTTAGCTTTCTTAAGTGTTCCTTTACCTTATCAAATTCTATTTTTGGCTCCCATTTCACTTAATAAGAGGAAAAGCTGGGATTTTTTTTTTTCTTTTGTGGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCCAACCTCCGCCTTCTGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCTGTGTAGCTGGGATTGCAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATG	C	reviewed by expert panel	ClinGen:CA331220
single nucleotide variant	NM_000251.3(MSH2):c.1077-2A>C	MSH2	Pathogenic	2	47656879	47656879	A	C	reviewed by expert panel	ClinGen:CA017167
single nucleotide variant	NM_000251.3(MSH2):c.1077-2A>G	MSH2	Likely pathogenic	2	47656879	47656879	A	G	reviewed by expert panel	ClinGen:CA017174
single nucleotide variant	NM_000251.3(MSH2):c.1077-2A>T	MSH2	Likely pathogenic	2	47656879	47656879	A	T	reviewed by expert panel	ClinGen:CA017180
Deletion	NM_000251.1(MSH2):c.1077-?_(*272_?)del	MSH2	Pathogenic	2	47656881	47710360	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.1077A>T (p.Arg359Ser)	MSH2	Pathogenic	2	47656881	47656881	A	T	reviewed by expert panel	ClinGen:CA017208