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_000251.3(MSH2):c.2210+116_2562del	MSH2	Pathogenic	2	47703821	47707933	TAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAAACTTTGATTTTTAAAATTGTCTCTTTAAGTAGACAATTTATAAGCTACTGGTACGAGTTCACCTTATAAATCTCCACTACCATGTTTTTGCTTGGACTGTTCACACTTCCTGGAATGGTCCTTCTTGCCGTTTATCCAACTTCTTTCTAATTTTTAAGTCCCTAATGATGGGAATTCTATTTCTGTAGTGATTTTTCTGGTCATACGACCGTAAGGTCATGGGTGTTTTTCTCTGAATTCCTCTTGAGATGCCTGTAACTTGAACCACGTTTTTATTCTAGACATTACTGAAATGTTTTGTCTTTATTTCACTTTTTAGGAGCTTCCTTGAAGGTAGGGACTATACCTTCTATTTCTTGGTATCTTTTTCTTTCTTTTTTTAAAAGTTTTTTAGAGAGACAGGGTCTCACTCTTTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAGGTGATCTTCCTGCCTTGGCTTCCCAGAGTGCTGGGATTACAGGCATGAACCACCGTGATCCTCCTTATTTCTTAGTATCTTCTAAAGAACATTAAATATAGTAGGTGCCTAGTAAATTATGTATTGATTTAACTTCTTTGAGGTTCTGTTGTTTGTGAAGAATTATAAAAGCAATACAAATGTTTGTATAGTAATTAAGCAACAGGTTAATATTCATGACTTAAAAGATTAAAGAAATAAGCAAAACATGTTAGCTGGCAACTCACAGAAAAAGAATTAAATTGCCAATGAGCACACGAGCACATGAAAAATTAGCAAAAGTTTCACCCCTTTACATATATTTGGTTAAAATTGAGAAAAGAATAGTAATAGATGGTATTGGTAGGACTGTGGCAGGCACACAATTTACATGACCACCAAAAGTGTATGCAGGTATCCATGTCACCACACCCTGGTCTCATCTTCATTCAGTTTTATTTATTTTTTTTAATCTCGGCCTATTTGATTGGCACGAAATGAATGATAGCTGCCTTATTTGGAATTCCTTTGATTACTACTAGTGTGCTTGATAATGTAAAACAATATTCAAAATCTGTTTTTCCTTTCATCCGTTGTTTGTTCATGTTCATGACCTTTTTTTTTTTTTCCTATTCTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCCTCCCACACAAAGGTGTGTGCTACCATACCTGGCTAGTTTTTAATTTTTTTTTTTTTTTTTTTTTTTAGAGGCAAGGTCTCACTATGTTGCTCAGGCTGGTCTGGGCTCAAGTGATCCTCCCACCTCCGCCTTCCAAAGTGCTGGGATTACAGACGTGAGCCATCATGCCTGGCCCTTGCCCATTTTTCTATTGAAGTTTTAGTGCTTTTTATTGACTTTGTTTATATATTAAGATAATCCATTATGTTTGTGGCATATCCTTCCCAATGTATTGTCTTAATTTTGTTTTTGTATGTGTATGTTACCACATTTTATGTGATGGGAAATTTCATGTAATTATGTGCTTCAGGTCTGCAACCAAAGATTCATTAATAATCATAGATGAATTGGGAAGAGGAACTTCTACCTACGATGGATTTGGGTTAGCATGGGCTATATCAGAATACATTGCAACAAAGATTGGTGCTTTTTGCATGTTTGCAACCCATTTTCATGAACTTACTGCCTTGGCCAATCAGATACCAACTGTTAATAATCTACATGTCACAGCACTCACCACTGAAGAGACCTTAACTATGCTTTATCAGGTGAAGAAAGGTATGTACTATTGGAGTACTCTAAATTCAGAACTTGGTAATGGGAAACTTACTACCCTTGAAATCATCAGTAATTGCCTTATTCTAAGTTAGTATAAATTATTGATGTTGTTATAGAACCCATTTACCCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTTCTAGCTGTTATTGTTTAACAAAATCTTCATTATAATTAGCTTATTTTGTGTTTAAGAGTGTGTTATAGAAACAGGTTCATTTAAAGCTGGGGGTTCCAGAAATCTTGAAATAGTAGTTATCACATGCAGAGTGACTTATCTGTTGTTGTTTCATCCTTTCAGGAAAGTTTGTCATTCGTGGGCTTGGGATCTAGTCAGATCCCTGTATTGATGAGATTCACATGTTATAAGGCTTTCAAAGGTTTTAAAAATCATACTATAAGGATTGATTTCACTAGTCACCAGAATAACTTTTTCAGATAGCGCTCTGATTTTCCACGAACACGTTTTTCTGCATCAGTTGGTTGCACATGAGTGAGATAATCTTGGTTCTTTATCCTTTGTTATTTGTACTTCATTGGGAATCCTTTTGAGTTAGTATATTTGAGTCATTATTATTATTGCTGTAGAATTCAGGAACTTTTAGTAGATCTGGCAGCATAAAATTTTGCTTTTAAATCATTGTTTGTGTTTTGTATGCTATAGAAATGGGTTCAGAATATTTTTTAAAAGGCCAGATGAAGTGTGAAGATAGAAAAACTTCATCCTTCACTGTGAATGTTTAACAAACATTTGCTTCTACTTTATTTTTGTTTGCTTCCTTTAGTTGTGCAAAGTATTCAGTTCTAGAATGCATGAGATATATGACAAAGCCAAAAAATTCTTTATAGTTGATAAATAATTGTGGCAAAAACAGCTGTATAGTAACTTTGCAAGCATCATTTGATTAAATGCTTAAAAAGTCTTGACTCAGTTTTAACTATTTCCTGCAAATAATCAATATTTAATTAAAGCTACTCCAAATTAGTGACACTTTACGTGTCTGTCTTTCTCCCTCCCCTTCTCCCTTCTCCCTTCCCCCTTCTCCCATTCTCCCATTCTCCCTTCTCTCTTCTTCCTTTCCTCTTCCCTTCCCTTCCCCTTTCCCTTCCCCCTTCCCTCTTCTCTTCCCCTCCCCCTTCCCATCCCCCATCCCTTCCCTTCCCCCATCCCTTTCCTTTCCCCTTCCCTTCCCTCCTCTTCCTCCTTCCCTTCCCCCTTCCTCCTTCCCTTCCCCCTTCCTCCTTCCCTTTCCTCTTCCCTTTCCCCTTCCCTTCCCCCTTCCCTTCCCTCTTCCCTTCCCCTTCCCCTTTCCCCTCCCCCTCTCCTCCCCTCCCTTACCTTCCCATGAAATGAGAAAGCCTCAGAGATAGTGGCTTGATTAATTTTTCTTTAGATTAAGATATTTGTCTAAGCCTTTAAGGTTTATCTATTGAGCTTTTTTGTCTCCTATTTTTATTTTTCCTACTATGTTTGTCGAGGATAAAATACAGCACTGTGTGCCAAGTCATAATCACTTTTCATTTGAGACTTAATTAAAATGCCTTTATTTTAATGATATATTTGGCTAATGTATTTGAAGTAATCCGAAATTAAGTTTTCTAATGACAAGGTGAGAAGGATAAATTCCATTTACATAAATTGCTGTCTCTTCTCATGCTGTCCCCTCACGCTTCCCCAAATTTCTTATAGGTGTCTGTGATCAAAGTTTTGGGATTCATGTTGCAGAGCTTGCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGG	T	reviewed by expert panel	ClinGen:CA331484
single nucleotide variant	NM_000251.3(MSH2):c.2210+1G>A	MSH2	Likely pathogenic	2	47703711	47703711	G	A	reviewed by expert panel	ClinGen:CA020243
single nucleotide variant	NM_000251.3(MSH2):c.2210+1G>C	MSH2	Likely pathogenic	2	47703711	47703711	G	C	reviewed by expert panel	ClinGen:CA020247
single nucleotide variant	NM_000251.3(MSH2):c.2211-1G>T	MSH2	Likely pathogenic	2	47705410	47705410	G	T	reviewed by expert panel	ClinGen:CA020276
single nucleotide variant	NM_000251.3(MSH2):c.2211-2A>C	MSH2	Likely pathogenic	2	47705409	47705409	A	C	reviewed by expert panel	ClinGen:CA020281
single nucleotide variant	NM_000251.3(MSH2):c.2211-2A>T	MSH2	Likely pathogenic	2	47705409	47705409	A	T	reviewed by expert panel	ClinGen:CA020287
single nucleotide variant	NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter)	MSH2	Pathogenic	2	47705428	47705428	C	A	reviewed by expert panel	ClinGen:CA020302
single nucleotide variant	NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)	MSH2	Pathogenic	2	47705428	47705428	C	G	reviewed by expert panel	ClinGen:CA020306
Deletion	NM_000251.3(MSH2):c.2228_2231del (p.Asp742_Ser743insTer)	MSH2	Pathogenic	2	47705425	47705428	GATTC	G	reviewed by expert panel	ClinGen:CA020296
single nucleotide variant	NM_000251.3(MSH2):c.2231T>G (p.Leu744Ter)	MSH2	Pathogenic	2	47705431	47705431	T	G	reviewed by expert panel	ClinGen:CA020311