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_000535.7(PMS2):c.164-2A>G	PMS2	Likely pathogenic	7	6043691	6043691	T	C	reviewed by expert panel	ClinGen:CA009971
Indel	NM_000535.7(PMS2):c.164-518_803+252delinsCG	PMS2	Pathogenic	7	6036705	6044207	TGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAGAATCTTTTGTTTTGTTTTGTTTTTTGAGACAGGGTCTCCCTCTATTGCCCAGGCTGGAGTACAATGGCTCAATCATACCTCACTGCAATGTCAAACTCGTGGGTTCAAGCAATCCTCCTGCGTCAGCCTGTCGAGTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTAATTTTTTTGTAGAGATGGGATCTTGCCGTGTTATCCAAGCTGGTCTTAAATTCCTGGGCTCAAGCGATTCTCCCACCTCAAAATTGTTGGCCGGGTGGTTCAAACACATAATCCCAACAGTTTCCTCTCCCAGAGTGCTGGGATTACATGTGTGAGCCGTGGGAACAACAATTTTGATTTTATGATATAAGAAAGATGAAACAAGTACCTACTTATTCAGAACCCACACATTGCCCACAATAACTTATATTTTTTTCAGAGAGAGAGTGAAAAGACGCAGTATACGAGTGTCTCTGGAAGAATAAAATGAAACACATTCAGCTCTCAAACATCAATTTTTGTGATAGGTACTTTGTTTTTTTTTTTTTTTTTTTCCTGGGATGGTGTCTTGCTCTCTCGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCATCTCCCGGGTTCCAGCGACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGAACAGATAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGATCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCGGGCCTTGTGATAGGCACTTTAAAAATCAATTCTTAATCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTAGAGGTCAGGAGTTCGAGGCCAGTCTGGCCAACAAGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAATTGCTTCAACGCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAACCGGCCGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAGATACAAAAAATTAGCCTGGCGTAGTGGAGCATGCTTGTAATCCCACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGACAACACCACTGCACTCCAGCCTGGGCAGCAGTGCGAGACTCCCTCTCAAAAAAAAAAAAAAAATCAATTCTAAGATTTTATTCTCCATTCTACTGGAAGGGACAATGGAAACCCGCTATAATCACTAGAGCAATAAGAGGCGTTGAAGTAACCGGCCATCACTACCTGCTTCTGCCCAAACACAGAGCCGATATTTTCCTTTATGCTGGGGCTTCCACCTGTGCATACCACAGGCTGTCGTTTTCCTTGTCCAAGCTGATTGGTGCAACTTACACGGATGCCTGCTGAAATGATACAGTATGCATGTAAGACCTGGACCATTTTGGCATACTCCTGTTTAAAAAACACAAACACAATATTCTACATTACTTTAATATTATAGGAATTACACAGCTCAAGTTACAACATCCAACGCAAGGTTCTCACATCATCGCACAAATCAAGGGAAGCACTGTTGACAGAATGATCTGTAAAGAGGTGTCTTCCTATATTCTACAGAAAGGAACGCAGAGCTTTTGGCTCCTGGTCACAGTCCTCTCACTTCCCAATGTGCCATGCATCCTGGTAAAACAACTAAAAAGTACAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGCAGGAGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCTGTCTCTACAAAAAATTTAAAAAAAAAATTAGCCGGGCGTCATGGCATGTGCCTGTAGTCACAGCTACTGAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGTTCAAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTCGGTGACAGAGTGAGGCCCTATCTCTAAAAATGAAAATTAAAAAACTGAAACGTACATTGTGTTTGATTTTATAATCTCTCCTTTTGAAATGTATCTTCGTATAATAGAAACACTGGCACAAGCATTTTGGTATGCAAAGAGATACACAAAAATGTTCACTGAAACAATCTCTATGAACAAACAGAAACAACCTAAGCAAGCATCATTGAGGAGTTGATTAATTATGGTATAGCCATAGCGCAGCAGAATGACAACAAATAAGGCAGTGTGCACCGACTAAAAAAGACAATCACAATATGCTAAGTAAAAAGTCAGTTATAGGGCCAGGCATGATGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCCACGAGTTCGAGACCTGCCTGGGCAACACAGAAGGACCCATCTCTACAAAAAAAACAAAAATTAGCCGGGCATGGTAGCACGGGCCTGGAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAAGATTCATTGAGCCTGGGAGATCATGGCTGCGGTAAGCTGAGATTGTGCCACTACATCCCAGCCTAGGTGAGAGAGCAAGACCCTGTCTCAATTAAAAAAAAAAAAAAAAAAAAAATACAACTTTCAACCACATACAATTCTGTATTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTATAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGAAGACTCCATCTAAAAAAAAAGAAAGTTAAAATTAGCACCAAATGCTTTACAAGTAAAAAAAGTTTTTAGCTGCATATGTTTAAGTAACTTTTTAGATTATGAAAAACACACATACAAAATGGGAAGGCACAAAGAAGACAGCAAAAACTGCATGAGATCTCACATCCAAGGATAACTGCTGAGAACATGAAAGTGCCGAGTCTTCCAGCCTTTATACTATACACATTTAGGCTTGTTGTTTTGTTTTCACAAAATTGTAATCAAATAATACAGACAGTTCTATAATCTGCTTTTTAAACACAACGACTATATAACATTTAGCTATTTTCATTTGCATTCAAATTCATAAGGGTTCTAATAGCTCATTTCTCAGAAAACCAAGAGAAATATTCTTTTTTTTTTTTTTTTGAGATGGGGTCTGGCTCTGTGCCCAGGCTGGAGTGCAATAGCTTGATCTCGGCTCACCGCAACCTCTGCCTCCCGGATTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAGTTTGGCCAGGATGGCTTTGATCTCTTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCT	CG	reviewed by expert panel	ClinGen:CA331742
Duplication	NM_000535.7(PMS2):c.1730dup (p.Arg578fs)	PMS2	Pathogenic	7	6026665	6026666	C	CT	reviewed by expert panel	ClinGen:CA331743
single nucleotide variant	NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)	PMS2	Pathogenic	7	6026658	6026658	T	A	reviewed by expert panel	ClinGen:CA010207
Deletion	NM_000535.7(PMS2):c.1768del (p.Ile590fs)	PMS2	Pathogenic	7	6026628	6026628	AT	A	reviewed by expert panel	ClinGen:CA010226
Deletion	NM_000535.7(PMS2):c.182del (p.Tyr61fs)	PMS2	Pathogenic	7	6043671	6043671	AT	A	reviewed by expert panel	ClinGen:CA010323,PMS2 @ LOVD:PMS2_00122,OMIM:600259.0014
Duplication	NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	PMS2	Pathogenic	7	6026564	6026565	A	AT	reviewed by expert panel	ClinGen:CA161562
single nucleotide variant	NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)	PMS2	Pathogenic	7	6026556	6026556	T	A	reviewed by expert panel	ClinGen:CA010345
single nucleotide variant	NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)	PMS2	Pathogenic	7	6026469	6026469	G	A	reviewed by expert panel	ClinGen:CA010460
single nucleotide variant	NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)	PMS2	Pathogenic	7	6026457	6026457	T	A	reviewed by expert panel	ClinGen:CA010519