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	NM_000535.7(PMS2):c.116del (p.Val39fs)	PMS2	Pathogenic/Likely pathogenic	7	6045570	6045570	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618545
Deletion	NM_000251.2(MSH2):c.1277-6284_1386+4776del	MSH2	Pathogenic	2	47666403	47677572	na	na	reviewed by expert panel	-
Deletion	NM_000251.2(MSH2):c.1277-6224_1386+4836del	MSH2	Pathogenic	2	47666463	47677632	na	na	reviewed by expert panel	-
Deletion	NM_000251.3(MSH2):c.1277-4076_1386+1819del	MSH2	Pathogenic	2	47668609	47674613	GAATTACAGGTCCGTGCCACGATGCCCGGCTAATTTTTGTATTTTCAGTAGAGGTGGAGTTTCGCCATGTTGGCCAGGCTGGCCTCAAACTCTTGGCCTGAAGCAATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACGGTGTGAGCCACTGCTCCTGACCCCATATTTTTTCTTTTAATTATAAAGGTAATAATGTAAAAAGAAGTCAACTCCCAGTTTAACTCTAGCAGAGTAACCAGTGTTAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTATTTCCCAGGCTGGAGTGCAGTGATGCCATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCCATTCTCGTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGCGCCCAGTGCCACGCCTGGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTGTTGAACTCCTGACCTCGTGATCCACCCGCCTCGATGCTGGGATTACAGGCGTGAGCCACTGAGCCTGGCCAATCCATTCCTTTTTATGGCTGAGTAGTATTCCATTGTGTGTGTGTGTATATATACATATATATACACACATATACATATATATACACGTATATATGTATGTATGCGTATATATGTATGTGTGTGTGTATATATACACATATACATATATATACACCTATATATGTGGTATGTGTATATATATGTGGTATGTATATATATGTGGTATATATATGTGGTATGTGTATATATATATGTGGTATGTGTATATATATATGTATATATGTGTGTATATATGTGGTATGTATATATATATGTATATATGTGGTATGTATATATGTATATATGTGTGTCTGCATATATGTATATGTGTGTATATATACACGTATATGTGTATATATATACGTATATATGTGTATATATACATATATACGTATATATATACACACACACATATATATACACATATGCAGGCACACATATATATACATATATATATATACATACCACAGTTTCTTTATCCACTTGTTGATTCATGGGCATTTGGGTTGGTTCCACGTTTTTGCAATTGTGAATTGTGCTGCTATAAACATCCGTGTGCAAGTATCTTTTTTGTATAATGATATCTTTTCCCCTGGGTAGATACCCAGTAGTGGGATTGCTGGATCAACTGGTAGTTCTACTTTTAAGGAATCTCCACACTGTTTTCCTTAGTGGTTATACTGGTTTACATTCCCACCAGAAGTGTAGAAGTGTTCCCTGTTCACTGCATCCACACCAACATCTATTTTTGATTTTTTGATTATGGCCATTCTTGCAGGAGTAAGGTGGTATCGCATTGTGGTTTTGATTTACATTTCCCTGATCATTAGTGATGTTGAGCATTTTTTTATGTTTGTTTGCCATTTGTATATCTTCTTGAGAATTGTCTATTCATGTCCTTAGCCCATTTTTTGATAGGATTGTTTGTTTTTTTTCTTGCTAGTTTGTTTGAGCTTGTTGTAGATTCTGGTTATTAGTCCTTTGTCAGATTTATAGATTGTGAAGATTTTTTTCCCACTCTGTGGGTTGTCTGTTTTTGTCTGTTTCCTTCTGCTGACTGTTCCTTTTGCCATGCAAAAGCTCTTTTTTTTTGAGACAGAATCTCGCTCTGTCGGCCAGGCTGGTAACAAAGACACAGGTACTGGTAATAACTGCCATGGCTTATTGCCTACATTAATGATGAAAGCAAATGCTAAATTTCAGCTAGAGGCTAGAGAAAATAAGCCTGGAATTTTCTTTTATGTTTATATACTGCTATGAATACCAGGAGTCCTTGGGTTAAGACTGTAGGGCTTTCTAAAGCCTGTGATCACTAGTGGAGAATGTAGCTTTACAAAGTCTAGTTGGAAATTGGCAACTGGGGGTTAGTACAAGTTACAAGGAAGGGATGGAATTTAAGATGCTAGTGAAAGCTTGGAGGATAAGGGAGCAGGTGAACTCATAAGGAAGTTTATGAACTGAGAAGGGCTGCAGCAAAGTGGGCTCATGTGCTTGAGGAGCCAGAGGACATGTTGAGGGTGACATAGGTTCTGAAGTTCGTACAGATACTTATGCAGTATGGATTCTTGGAAAACCTTCTTTAGTCATGTGATAGAAAAATAACAGCTTATGGAAAAAACAGGGTTGAGGCAGACCTGAAAATACATGAAATTTTAAAAACCGCTTCTAACAGAAGCATAACAGACTGTAATAAAAACTGTGGCCTTCCTGGCATTTGCACCCAAACAACAGCATTAGCCAACTCTTTGAAGCCTTAGATCTGTGGCTCTTGTTTTCTCCTTTGAGGTGTAGGTCCTTGAGGGCATTTGCTTCTAATAGAGGCTAGTTTCATCAGAATTAAAAATCTGAACCATGGTATGAAATTCAATTCTTTTTTTTTTTTCTTTTTTGAAAACACTGGCAAATGTTTTGTATCCTTGAGCTTTCCCACATATCTTAACATAGTGAGTGGAAAGTACAGTGGCTGTTAAGCCAACTACTCTGAGGTCTTCACTGCTAAGGCTTACTCTTAATTGTGTGAGAGCTTAACCTTGATCCCTTTAAAACATTAATGGGCTAGAAAAAAAACCATTCATAAACCAGTGCCACCTCTGAATTTTGCTACCACAATTCCCTTATTTACCAATAGTGCATGAGCTAATTTGGAATAAAGAACTAGGCATTGTAGCACAACAGACATTATGTGGGCAAAGTGTTGTTTATATTCTGTCTAAATAGTGCTTCACATGTATGTACTATTTTCTAAATATGTATAGATGCTTTTGTGATTAATAATAAAACATGAATTCTTAAAACAATTTTGCTGACTTCATAGTAGCTTTTCACCGTTTTTTCAGTAGCTGCTAAAATTTCTGGAGAAGTTTGGGAACTATTGTTTTGGAGTGAAATGCAGTGTGTTAGATATCACTTGCAGAATTCTTCTAAGGGTATTTATTGGCGATTAGAAAAAAAATCCTTGTGTTATACCAGTAGTAATACAAAGTAATTGTTCAGCTTCTGTTAAGTGTAAAGGACTATACAAGTATTGTGTATAGTTATCTCATTTATTATTTTCTGGGTAGCTATTGTTATTATTACTTCGTACAAAAAGGGAAAAGGAGGCTCAAAGTATCATGCTCCAGATAACAGAGCCAGTAGGTAGCAGAGCTGGGATTGCTACCCAGGTCTCTAGTCCTGCTTTTTCACACTATATACTCATTGCTTCACTTACTCCTTCATACATGATTCCCCAGCATGTACTCTTTTTTTTTTTTTTTTTTTTTTGTTTGAGATAGAATCTCGCTCTCTGTTGCCCAGGCTGGCAGGCAGTAGTGTGATCTTGGGCTAACTGCAACCTCCATCTCCTGCATTCAAGCAGTTCTCCTGCTTCAACCTCCTGAGTAGCTGAGATTATAAGCCTATGCTACCACGCCTGGCTAATTTTTGTATTTTTAGCAGAGATGAGGTTTCGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCTGCCCACCTCAGCCTCCGAAAGTGCTGGGATTATAGGCATGAGCCATCATGTCCGGCCTCCCCATCATGTACCCTTAAATACCATCAAGCACAGTTCCATTGTGTAAAAACTTGGCTTGATTTAACCTGTTAATTGGAACACTGTCATTAATGGAAATTAGGAATATGAGGTAAGCTAGAGGTTTTATTTTAATGACTTTGGGTTATTAAATCTATAAGAAATGAAATTCATTTAGTCATAATTAATGTCATGTTTCTGCATCTATATTACTTGTTGGGTTTACAGACGAGGTAGTGTATTATTAGTGGGAAGCTTTGAGTGCTACATCATCTCCCTTTCTATAAAATAAATTGAGTACGAAACAATTTGAATTAAAACACCTGAGTAAATAGTAACTTTGGAGACCTGCTGTACTATTTGTACCTTTTGGATCAAATGATGCTTGTTTATCTCAGTCAAAATTTTATGATTTGTATTCTGTAAAATGAGATCTTTTTATTTGTTTGTTTTACTACTTTCTTTTAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGGTATGCAATATACTTTTTAATTTAAGCAGTAGTTATTTTTAAAAAGCAAAGGCCACTTTAAGAAAGTTTGTAGATTTTTCTTTTTAGTATCTAATTGTAGCACCTTTGTGGACAGTGGATGTAATATTAAGTGACAGATGGGAAAAGGATTTTTAAAAAAATAGCAACTGTTTCAGTGGATGAAATAAAGATTATTAGCAGAGAAAATGAATATTGGGCATAACTGTCCTGGTGAAAGACAATCTCATAAATGAACAATTTCATAATTTCGTAAATGCAACTGCATTTTATTTTCAAAGAGAAGGAAAATTATAGTCACTGGAAACGGAAAGAGAAGTTAGAGGTAAACATAGGACACACAAGAAAACTTTCATTTTGTTTATTTTCTTGTTTTTCTTTTGAGACAGGGTTTCCCTCTGTTACCCAGGCTTAAGTGCAGTGACACTATCATAGTTCACTAACCCCTCAAATTCCTGGGTTCAAGTAATCCTCCTGCCTTAGCCTTAGTAGGTGTAAATACAGGTGTGTACCACCATGCCTGGCGAATTTTAAAAAAACTTTTTTATAGAGATGAGCTCTCGCCGTGTTGCCCAAGCTGGTCCTAAAACGCTGGCCTCAAGCTATCCTCCGGCCTCAGTCTTAGCCTCCCAAAATGCTGGGGTTTCAGTAGAAGCCACCATGCCGGGCCACTTCTGTTTCTTTTCCATGTAGAGTTCTTTGCAGGAGGAGGTTAGAATAGGTGTGCATCTCCTAAATAGTTGTCGAATATAACTAAAAAGTTAACCAGGACTCTAAATACTATTTACTTCTAAAATTTGTTAATTGGGAACATTTAGGGTTTAACTGATCTATATCTTATGTCTTTAACAATTTTGAATGATAATTATATGTAAAGTAAGAACAGTTTGTGAAATAGTTGAAAATATCCTTACATGAAAGTGAATTTTAAAGCACAGTTTATGTAATGTTAATGTTTTGTTTTGTATCTGTTAAAAATTTGTTTATATGAACAAGTTTACAGGTTTACTGTGGTGAGCCCGTTGAATATAGTGGGTTTTTTTTGTTTGTTTTGTTTTTGTTTTTGAGATGAAGTCTCACTCTTGTCCCGAGGCTGATGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTATAGGCACCTGTCACCAAACCCGGCTAAGTTTTGTATTTTTGGTAGAGATGGGATCTCAGCATGTTGGCCAGGCTGGACTCAGGTGATCCGTCTGCCTCGGCCTCCCAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCGAGCCTGAATATAGTGTTTTTAAGTTGCAGGACTTTAAAAATAATATTTTGAAATTTTTCTAAGTTAAATTCCCTGTTAAAATGGTCATGCAGGAATATACGCTTGCATTATTCATATTAGGGTAACTGTTTGGTTTGCTAGTTGTTAGATTCTTTGCATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTTTTGACAAGGCTGGAGTGCAATGGCGCTATCTCGGCTCACCTCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAATACGCCACCAAGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAGTCTCAGGTGATCAGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTAATCCCCCACCCTTTT	G	reviewed by expert panel	ClinGen:CA645293792
single nucleotide variant	NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp)	MSH2	Likely pathogenic	2	47698109	47698109	T	G	reviewed by expert panel	ClinGen:CA346728044
single nucleotide variant	NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)	MSH2	Likely pathogenic	2	47702383	47702383	A	G	reviewed by expert panel	ClinGen:CA346728864
single nucleotide variant	NM_000251.3(MSH2):c.175A>T (p.Lys59Ter)	MSH2	Pathogenic	2	47630505	47630505	A	T	criteria provided, single submitter	ClinGen:CA346728998
single nucleotide variant	NM_000251.3(MSH2):c.211+1G>T	MSH2	Pathogenic	2	47630542	47630542	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346729068
Deletion	NM_000251.3(MSH2):c.217_227del (p.Lys73fs)	MSH2	Pathogenic	2	47635542	47635552	AGCAAAGAATCT	A	criteria provided, single submitter	ClinGen:CA645369199
Deletion	NM_000251.3(MSH2):c.289del (p.Gln97fs)	MSH2	Pathogenic	2	47635617	47635617	TC	T	criteria provided, single submitter	ClinGen:CA645369210