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
Indel	NM_000535.7(PMS2):c.733_741delinsGCTGTGTTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)	PMS2	Likely pathogenic	7	6037019	6037027	AGGGGGCAG	CTTCACAACACAGC	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.2083G>A (p.Val695Met)	MSH2	Pathogenic	2	47703583	47703583	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro)	MSH6	Likely pathogenic	2	48026374	48026374	T	C	reviewed by expert panel	-
single nucleotide variant	NM_000179.3(MSH6):c.1439T>A (p.Val480Glu)	MSH6	Pathogenic	2	48026561	48026561	T	A	reviewed by expert panel	-
single nucleotide variant	NM_000249.4(MLH1):c.543C>G (p.Gly181=)	MLH1	Likely pathogenic	3	37050394	37050394	C	G	reviewed by expert panel	-
single nucleotide variant	NM_000249.4(MLH1):c.543C>T (p.Gly181=)	MLH1	Pathogenic	3	37050394	37050394	C	T	reviewed by expert panel	-
Insertion	NM_000251.3(MSH2):c.2267_2268insGTAG (p.Thr756_Tyr757insTer)	MSH2	Pathogenic	2	47705467	47705468	C	CGTAG	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.2836G>T (p.Glu946Ter)	MSH6	Pathogenic	2	48027958	48027958	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.2211-1G>A	MSH2	Likely pathogenic	2	47705410	47705410	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000003.12:g.36993510_36999509del	MLH1	Pathogenic	3	37035001	37041000	TGAGCATCTAGACGTTTCCTTGGCTCTTCTGGCGCCAAAATGTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGATTGAGAACTGGTACGGAGGGAGTCGAGCCGGGCTCACTTAAGGGCTACGACTTAACGGGCCGCGTCACTCAATGGCGCGGACACGCCTCTTTGCCCGGGCAGAGGCATGTACAGCGCATGCCCACAACGGCGGAGGCCGCCGGGTTCCCTGACGTGCCAGTCAGGCCTTCTCCTTTTCCGCAGACCGTGTGTTTCTTTACCGCTCTCCCCCGAGACCTTTTAAGGGTTGTTTGGAGTGTAAGTGGAGGAATATACGTAGTGTTGTCTTAATGGTACCGTTAACTAAGTAAGGAAGCCACTTAATTTAAAATTATGTATGCAGAACATGCGAAGTTAAAAGATGTATAAAAGCTTAAGATGGGGAGAAAAACCTTTTTTCAGAGGGTACTGTGTTACTGTTTTCTTGCTTTTCATTCATTCCAGAAATCATCTGTTCACATCCAAAGGCACAATTCATTTTGAGTTTCTTTCAAAACAAATCGTTTGTAGTTTTAGGACAGGCTGATGCACTTTGGGCTTGACTTCTGATTACCCTATTGTTAAATTAGTGACCCCTCTTAGTGTTTTCCTGTCCTTTATTTCGGAGGACGCACTTCGAAGATACCAGATTTTATGGGTCATCCTTGGATTTTGAAGCTTATAACTGTGACAAAAAATGTGAAGGGAAGAGATTTGAAACATGTGGAAGGAAAAGTGAGTGCAGACTATAAACTTCCAAAAAGACAAGCCCAAAATACACCTAAACGTTATGTCAGATTATTTTGTTAAAATCAGTTGTTAGTGACGTCCGTACGTTAATAGAAAAAAGAATGCTTCAGTTTGGAGTGGTAGGTTTCTAGAGGGATTTATTGTGAAAGTATAAACTATTCAGGGCAATGGGACTGAGAGAACAGTGGGTAGAAAGGACCACTGAAGGAAAGGAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTGTCAAAACTCTCGATCTCAGGTGAACCGCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCTGCAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATTTCCTGACCTCAGGTGATCTGCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGCGCCCGGCTCAAGTGGAGATTTTTATATGGAGTCCAGTTATACTCTTTTTAATATATAAGTTGAGATGACTAATACAACTTCAATACAGGGGCTCATGAGAAATGTCTGTAATATTTAAGTAACTTATTGTCTTCTTTCTTTTTTTTTTAAGATGAAGTCTTACTCTGTTGCCCAGGCGGAAGTGCAGTGGCGTGATCTTGGCTCAGGGCAACCTCTGCCTCCTGGTTTCAAGCGATCTTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGTGCATGACCACACCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCCAAGTGTTGGGATTACAGGTGTGAGCCCCCGTGCCCAGCCTATTATCTTATTTCTGAATAAAGAATTGTCTGTGTGGGGAATAGATAACTCTTTCTCATGCAGCCCCTGCTAGAAAATTTGTTTTCTCTAGCAGTTGGTCTGTGCTTATAGGCTACTCTTTGAAAGCACAAAAAATTTATTGACTTCTTTTTTTTGGGTTTTTTTTTTTTTTTGAGACAGAGTTTTGCCCTTGTTGCCCAGGTTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGTCACCATGCCTGGCTAATTTTGTATTTTTAGTACAAATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGTGTGAGCCATTGCGCCTGGCCAGAAAATTCATTGACTTCCTAAAGATTTATTAACTTTCTGCATTACTTTTTTTTTTCCCCTCCATCGTAAATATAAAAGGGAATAGTAGAGAAAATCATTCAGAATTTTATTTTTTAGTGACATTATTTAGTGACATTTTATTAGAGTCACTTAGGAACCTGAGGCTGAATAAAGTTCAGGTAAAAGTAAAATTAGTTGAGAAGAGACATCTGCCAAAAGAAATCTATTTTTAACTTCACTTGCTGTCTTTCCTAGAGGAACAGAAATAGTGCTGAATGTCCTATTAGAAATGATGGTTGCTCTGCCCGTCTCTTCCCTCTCTCTCACACAATATGTAAACTCATACAGTGTATGAGCCTGTAAGACAAAGGAAAAACACGTTAATGAGGCACTATTGTTTGTATTTGGAGTTTGTTATCATTGCTTGGCTCATATTAAAATATGTACATTAGAGTAGTTGCAGACTGATAAATTATTTTCTGTTTGATTTGCCAGTTTAGATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGGAGGCCTGAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTAAAACCTCAAAGTAGCAGGATGTTTGTGCGCTTCATGGAAGAGTCAGGACCTTTCTCTGTTCTGGAAACTAGGCTTTTGCAGATGGGATTTTTTCACTGAAAAATTCAACACCAACAATAAATATTTATTGAGTACCTATTATTTGCTGGGCACTGTTCAGGGGATGTGTCAGTGAATAAAATAGATTAAAATCTATTCTCTTCTGATGCTTACATTATAGTGGTGGGAGACAAAATGGGTATAATAAATATTATATTAGATAGCATTAAGTGCTGTGGAGAAAACTAAAGCAGGGAGGAAGATAGGAGTGTGCAAGCCAGAAAGGTTGCAATTAAATTGAGTAGTTCAGGAAGGCTTCAATATGGATGTGATATTTGAGAGACCGGTGGAAGTCAAGGAGCAAGTTGTGAGGCTATTTAAAGGTATTCTTGGCTTACAGAACAATATACGCAAAGACTATTAAATGGAAGCATACCTGACATGTTAAAGGACTATCAAGGAGGCCAGTTTGTCTAGAGGCTGAAAAGGAAAGAGTAATAGGAGATGAGGTCTGAGTGAAAACACGTAAATCCTTGTGGGCCAAGGTAAAATCTTTAGCTTTTTTTCTGAATATGGTGGGATACTGTTAGAGGGTTTTAAGCAGAGGTTACGTGGTGTGGTGAGTTTTTTTTTTTTAATCCTTTGTCTTTCTGTGTGGAAAATAGCAGGACAGGGCAGAAGCAGTCTGTCCTGCAGACTGCTTGGTCGCAGTAGAGATGTAAGAAGCAGTGAGATTCTGGGTTAATTATGGAGGCAAAGTTCTCAGAATTTGCTGATATAGGGTATGAGAGAAAGAGGAATCAGGAATGATTTCAAGGTTTTGGTCTGCTAAATGGAAGGAGTTGCCATTTACTAAGATGGGAAAGACTATGAAAGAAGCAGATTTTCAGAGAGATCAGAAGTTCATTTTGGGGCATGTTCAATTTAAGATGCCTGTTAGTTGGATGTTTATGTGAGTTTGGAATGCAGGGTAGAGATTTAGGGATGAATATTTGGTAGTTGTCTGCATTTTAATGGTATTAAAAGCCACGAGAAGGATGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATATATAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGATGAGCCGAGATCGCACCGTTGCACTCCAGCTTGGGCAACAAGAGCAAAACTCCATCAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTTGAGACTCACCTGAAAAGATGCTCAACATTATTGGTCATTAGGAAAATGAATGAAAACCACAATGAGATACCACTTCACACCTATTAGGATGGCTATTATCAAAAACAAAAACAAGTGTTTGCAAGGATGTAGAGATTGGAATTCTTGTGTATTGCTAGAGGGAATGTAAAATAGTGCAGGGTGCTGTGGAAAATGCTGTGGTGATTCCTCAAAAAATTAAACATAATTATATAATCCAGTAATTCCACTTCTGAGTTATTCCCAAAAGAAGGGATGCAAGCAGATATTTGTACACTCATATTCATGGCAGCATTATTTACAGTAGCCAAAAGGTGAAAGCAACCTAAGTGTCCGTCAGTGGATGAATGGATAAACAAAATGGAATAATTTCAGCCTTAAATAGAAATAAAATGTTGACACATGTTGCAACATATACGAACCTTGAAGACATCATGTTAAGTTAAATAAGTTGGTCACTAAAGGACAAATATTGTATGATTCCCCTTATGAGGTTCCTAGAGTAGTCACATTCATAGAGACAGTAGAGTGGTGGTTGCCCAGGGCCGGGGGGAGCGAGGAGAATGGAAATTATTGTTTATTGGGTACAGAGTTTCTGTTTGGGGAAGATGAAAAAATTCTGGAGATGGATCATGATGATAGTTAACACAGCAGTGTGAATATAGTTAATGGCACAGAACTGTACATTTAAAAATGGTTAAGATGGAAAATTTTCTGTTACATATATTTTACTGCAATTTTTTTAAATTTTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCC	T	criteria provided, single submitter	-