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
Deletion	NC_000002.12:g.(?_47783224)_(47791133_?)del	MSH6	Pathogenic	2	48010363	48018272	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.458-1G>T	MSH6	Likely pathogenic	2	48023032	48023032	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.3556+1G>T	MSH6	Pathogenic	2	48032167	48032167	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000003.12:g.(?_37040176)_(37050663_?)del	MLH1	Pathogenic	3	37081667	37092154	na	na	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.139_260+1878del	MSH6	Likely pathogenic	2	48010507	48012506	GCGGGGATGCGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCCTTGGCGCGCTCCGCGTCACCGCCCAAGGCGAAGAACCTCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACCAGGTAGCGGGGTGGGGGTGGGGTCGAAGGCGGGGGCATAGCGGCGGGGCGCTTGGAACCCGGCGAGGGGAGGCTCGCACAGGGGGTTGGGGGGGTGCACGGCCTGGCCCTGGGCTCGGAGGAGGCGGGGCCGCAGAGTTGGCTTGAATGAGTGCAGGGGTCGAGTCTGGAGCATTTGGGGGTGTAGCTTGTAAACAGGGTCGGAGGAGAGAGGCTGTGCAGGAAGAGGGCTGCAGGGGAGACGCGGAGAGTTCGGGCCTTTTGGAGGGAGGAGACGCGTCCCGCCAGGTGGGGGTGCTGGGCTAAGGAAGGGGCGACGCGCGCAGCTCCGGGTGGGGAGGGGGCCTGGGAGGTGGGAGCACTGGGGGTGGGGCGAGAAGGGGAAGGCGCCCGGCCCACTTGGTGGGCGGGGCGGGGGGCGGGGTGGCGGGAAGGAGGAATGCCTGCGGGAGGCCGAACGGGGAGAGTCCGGTGGTGTGGGGTGCGAAAGGAGGTTCCTCGGCCGGCGCGGAGATAGTGAGTTGGGGCTCCAGTAGTCGATCGAGGTAGACACTTAGAGGTAGTTAAGAGCCGCGGTCGCCGAGACGCCTTGGGGACGGTGGGCCTTCGGCCTAGGTGAGGGGCCGCCGAGGGGGTGGGCCACGAGCTGCGAGCGCGGGGGGGTGTGTCACCATGGGGACCGCGGGGCCTAATTGGGCGGGGCGGGGCCGTGGGGAGCCGAAGTGCTGGGATCCGGCTGGGTCCTTCGGTAGGTAGGCTGCACGTGCACCGAGACGAAGATAGAATATTTTGACGTATGTGGAAATTCGTGTCGAGTGGAAAATATTTTATTTTATGAAATAGTGTAATTTTTATGGGGCACCACTGGGCTTTTAGAGGCCTTAATCGGGCGCTGGACAAAGATGTGTGGACGTGAGTGACTCCGGGGAAGCCTGTCGGGAGTTGTCCTCACTTTATGGGCAGTTAAGTGCTTTTTTTTTTTTTTCCTTTTTGAGAGAGAGTTTCGCTCAAGTCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAATCTCCGCGTCCCGGCTTCAAGCGATTCCCCAGCTTCAGCCTCCCGAGTAGTCGGGATTACAGGAATGCGCCCCCACACCCCGCCAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCGGAATTCCCGACCTCAGGTGATCCACCCGCCTCGGCCTCAAAGTGCTGGGATTACAGGCGCTAGCCACCGCGCCCGGTCTGTTTAGGGCTTTTTATCCGGGCAGCTGGCGACATTTTGAAAAGCTTGCTTTTGCTGTTTGCCAGATACATATATATGTATTTTGAGACAGAGTCTTGCTCTTTTGTCCAGGCTAGAGTGCAGTGGCGCGTTCTTGGCTCACCACAACCTCTGTCTCTGGATCAAGAGATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGCCCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCTTGATCGGCCCGCATTGGCCTACCAAAGTGCTGGGATTACAGGCATGAACCACCGAGCCCGGCCGTTTGTCAGATACTAAACACAAAGTTTAATGGTCGCTATTTGAACAAACGAAGAAATAAAGGCTCAGAAAAAATAACTCATTCAAGATAAGAGCCAGTTCGTGTTTTTTGTTTGGTTTTGTTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTTTCTCGGCTCACTGCAACCTCTGCCCGCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTA	G	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37048507)_(37050663_?)del	MLH1	Pathogenic	3	37089998	37092154	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_36996609)_(37050663_?)del	MLH1	Pathogenic	3	37038100	37092154	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37011810)_(37012109_?)del	MLH1	Pathogenic	3	37053301	37053600	na	na	criteria provided, single submitter	-
Duplication	NC_000003.11:g.(?_37053301)_(37083832_?)dup	MLH1	Likely pathogenic	3	37053301	37083832	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.645+2T>A	MSH2	Likely pathogenic	2	47637513	47637513	T	A	criteria provided, single submitter	-