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.1277-2A>G	MSH2	Pathogenic	2	47672685	47672685	A	G	reviewed by expert panel	ClinGen:CA017843
Deletion	NM_000251.3(MSH2):c.1277-571_1386+2327del	MSH2	Pathogenic	2	47672110	47675117	AGGTTTCGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCTGCCCACCTCAGCCTCCGAAAGTGCTGGGATTATAGGCATGAGCCATCATGTCCGGCCTCCCCATCATGTACCCTTAAATACCATCAAGCACAGTTCCATTGTGTAAAAACTTGGCTTGATTTAACCTGTTAATTGGAACACTGTCATTAATGGAAATTAGGAATATGAGGTAAGCTAGAGGTTTTATTTTAATGACTTTGGGTTATTAAATCTATAAGAAATGAAATTCATTTAGTCATAATTAATGTCATGTTTCTGCATCTATATTACTTGTTGGGTTTACAGACGAGGTAGTGTATTATTAGTGGGAAGCTTTGAGTGCTACATCATCTCCCTTTCTATAAAATAAATTGAGTACGAAACAATTTGAATTAAAACACCTGAGTAAATAGTAACTTTGGAGACCTGCTGTACTATTTGTACCTTTTGGATCAAATGATGCTTGTTTATCTCAGTCAAAATTTTATGATTTGTATTCTGTAAAATGAGATCTTTTTATTTGTTTGTTTTACTACTTTCTTTTAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGGTATGCAATATACTTTTTAATTTAAGCAGTAGTTATTTTTAAAAAGCAAAGGCCACTTTAAGAAAGTTTGTAGATTTTTCTTTTTAGTATCTAATTGTAGCACCTTTGTGGACAGTGGATGTAATATTAAGTGACAGATGGGAAAAGGATTTTTAAAAAAATAGCAACTGTTTCAGTGGATGAAATAAAGATTATTAGCAGAGAAAATGAATATTGGGCATAACTGTCCTGGTGAAAGACAATCTCATAAATGAACAATTTCATAATTTCGTAAATGCAACTGCATTTTATTTTCAAAGAGAAGGAAAATTATAGTCACTGGAAACGGAAAGAGAAGTTAGAGGTAAACATAGGACACACAAGAAAACTTTCATTTTGTTTATTTTCTTGTTTTTCTTTTGAGACAGGGTTTCCCTCTGTTACCCAGGCTTAAGTGCAGTGACACTATCATAGTTCACTAACCCCTCAAATTCCTGGGTTCAAGTAATCCTCCTGCCTTAGCCTTAGTAGGTGTAAATACAGGTGTGTACCACCATGCCTGGCGAATTTTAAAAAAACTTTTTTATAGAGATGAGCTCTCGCCGTGTTGCCCAAGCTGGTCCTAAAACGCTGGCCTCAAGCTATCCTCCGGCCTCAGTCTTAGCCTCCCAAAATGCTGGGGTTTCAGTAGAAGCCACCATGCCGGGCCACTTCTGTTTCTTTTCCATGTAGAGTTCTTTGCAGGAGGAGGTTAGAATAGGTGTGCATCTCCTAAATAGTTGTCGAATATAACTAAAAAGTTAACCAGGACTCTAAATACTATTTACTTCTAAAATTTGTTAATTGGGAACATTTAGGGTTTAACTGATCTATATCTTATGTCTTTAACAATTTTGAATGATAATTATATGTAAAGTAAGAACAGTTTGTGAAATAGTTGAAAATATCCTTACATGAAAGTGAATTTTAAAGCACAGTTTATGTAATGTTAATGTTTTGTTTTGTATCTGTTAAAAATTTGTTTATATGAACAAGTTTACAGGTTTACTGTGGTGAGCCCGTTGAATATAGTGGGTTTTTTTTGTTTGTTTTGTTTTTGTTTTTGAGATGAAGTCTCACTCTTGTCCCGAGGCTGATGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTATAGGCACCTGTCACCAAACCCGGCTAAGTTTTGTATTTTTGGTAGAGATGGGATCTCAGCATGTTGGCCAGGCTGGACTCAGGTGATCCGTCTGCCTCGGCCTCCCAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCGAGCCTGAATATAGTGTTTTTAAGTTGCAGGACTTTAAAAATAATATTTTGAAATTTTTCTAAGTTAAATTCCCTGTTAAAATGGTCATGCAGGAATATACGCTTGCATTATTCATATTAGGGTAACTGTTTGGTTTGCTAGTTGTTAGATTCTTTGCATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTTTTGACAAGGCTGGAGTGCAATGGCGCTATCTCGGCTCACCTCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAATACGCCACCAAGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAGTCTCAGGTGATCAGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTAATCCCCCACCCTTTTAAAAAAATGAGACAGAGTTTTATTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCATGGTTCACCGCAGCCTTGAATCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGTTGGAACCATAGATGTGCATCACCACACCTGGCTGATTTTTAAATTATTTGTAGAGATGAGGTCTTGCTTGTTGTCTAGGCTGGTCTTAAACTTCTGGGCTTCAGCAGTCCTCCTGCCTCAGCCTCCCAGAGTGCTGAGATGATAGACATGGGCCACTGCCCCTGGCCGCATTTTTCTTTTCTTTTCCTTTCTTTTTTTTTTTTTTTTTTTGAAACGGAGTTTTGCCATTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCCATTCTTCTGCCTCAGCCTTCCAGTTATCTGGGATTACAGTCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAACAG	A	reviewed by expert panel	ClinGen:CA331260
Deletion	NM_000251.1(MSH2):c.1277-?_(*272_?)del	MSH2	Pathogenic	2	47672687	47710360	na	na	reviewed by expert panel	-
Inversion	NM_000251.2(MSH2):c.1277-?_*(272_?)inv	MSH2	Pathogenic	2	47672687	47710360	na	na	reviewed by expert panel	-
Deletion	NM_000251.3(MSH2):c.(1276+1_1277-1)_(1661+1_1662-1)del	MSH2	Pathogenic	2	47657081	47698103	na	na	reviewed by expert panel	LOVD 3:MSH2_000914
Deletion	NM_000251.3(MSH2):c.(1276+1_1277-1)_(2634+1_2635-1)del	MSH2	Pathogenic	2	47657081	47709917	na	na	reviewed by expert panel	LOVD 3:MSH2_000916
single nucleotide variant	NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)	MSH2	Pathogenic	2	47672695	47672695	C	T	reviewed by expert panel	ClinGen:CA017883
Duplication	NM_000251.3(MSH2):c.1287dup (p.Lys430fs)	MSH2	Pathogenic	2	47672696	47672697	A	AG	reviewed by expert panel	ClinGen:CA017890
single nucleotide variant	NM_000251.3(MSH2):c.1288A>T (p.Lys430Ter)	MSH2	Pathogenic	2	47672698	47672698	A	T	reviewed by expert panel	ClinGen:CA017899
single nucleotide variant	NM_000251.3(MSH2):c.1292T>A (p.Leu431Ter)	MSH2	Pathogenic	2	47672702	47672702	T	A	reviewed by expert panel	ClinGen:CA017911