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_000179.3(MSH6):c.3173-1_3173del	MSH6	Pathogenic	2	48030557	48030558	CAG	C	reviewed by expert panel	ClinGen:CA330500
Deletion	NM_000179.3(MSH6):c.3173-433_3556+228del	MSH6	Pathogenic	2	48030113	48032381	GCGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATATGCCACGTGTATTAGGCACTGCTAATTTCTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCCTGAACTGCTGACCTCGTGAACTCTGCCCGCCTAGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTCTGCTCTATCTTTTAGCTTTCCCTTGGCACTTCTATGGTCCAGATGTTAGAGGGTAAGTATTTTGATGGGGGAGATCGTTGGACTGTAATTGAAAGTTATGTCTTATAATGAAATGTGTTATATAAAGAAGACCTATAAAACACTTAGGCTGATAAAACCCCCAAACGATGAAGCCTCACTTTTACCCTCTCTTTTAACAGATGTTTTACTGTGCCTGGCTAACTATAGTCGAGGGGGTGATGGTCCTATGTGTCGCCCAGTAATTCTGTTGCCGGAAGATACCCCCCCCTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGACTTTTTTTGGAGATGATTTTATTCCTAATGACATTCTAATAGGCTGTGAGGAAGAGGAGCAGGAAAATGGCAAAGCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAACTGATTCTTAAAGTTTTGTTATCAGAAAGTCATTTGTGACATTAGGAATAACATACTTAGGTGATCATTTTCCAAACACAGTTACATAAAAGTCAGCCAGTGACTTAATAGGAAGCAAAGGGAAATTACTCCCTGTGTTATAAAATTGAGAATTATATTTAGCTGAAACATCGATGCTTAATGTTAAGGGGAATATATGTTAAAAAGGGGAAGGAGGTCAGTCATTCAGGTCATGAGGCCCTTTGACTTGAATTCATTTCCTCAGAAGGTAGGTATATTCATAGTGAACAAAAATACAAAGGCTGTATGAAAAGATGAAAATGTTACAGGTTTATCCTTAAATTAGACTCATTTGCAGAAATGCAAATGAGGTAAGAAAGCAAATATAGTTCATGACCTCTAGCAACTGTTGAAAACTGCTCTTTAGGGATGACATGCTGGCCCTTTTTTTTTTGTTGTTGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAACAGAACCAACGTACATGTGATTGTGAAAGTTGTTTTAGAGTGCCTAGCTCTTACGTAAGGGTTCATAAGAAAGACAAAAGTTTATGAAACTGTTACTACCAGTCATAAAAGACCTTTTCCTCCCTCATTCACAGGCTGGCTTATTAGCTGTAATGGCCCAGATGGGTTGTTACGTCCCTGCTGAAGTGTGCAGGCTCACACCAATTGATAGAGTGTTTACTAGACTTGGTGCCTCAGACAGAATAATGTCAGGTGAGTTTTTTGTTTCCCACTTAAGTTCTCATTCAGTCATTTAGATGTGATAAAAGATATTTGCTTCTTGTATATGAGCCTTTTAAATCTAATATTTGATTTTTCTGGTGTTACTTTAAAAACATCACTTTTTAAGAACTGCATAGTCTCTCTCTCTTTTTTTTTTTTTTGAGATGGAGTTTCCCTCTTGTTGCCCAAGCTGGAGTGCAATGGCA	G	reviewed by expert panel	ClinGen:CA330501
Deletion	NM_000179.3(MSH6):c.3182del (p.Leu1061fs)	MSH6	Pathogenic	2	48030568	48030568	CT	C	reviewed by expert panel	ClinGen:CA011798
Deletion	NM_000179.3(MSH6):c.3195_3198del (p.Asn1065fs)	MSH6	Pathogenic	2	48030581	48030584	ACTAT	A	reviewed by expert panel	ClinGen:CA011835
single nucleotide variant	NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6	Pathogenic	2	48030588	48030588	C	T	reviewed by expert panel	ClinGen:CA011916
Deletion	NM_000179.3(MSH6):c.3221del (p.Met1074fs)	MSH6	Pathogenic	2	48030607	48030607	AT	A	reviewed by expert panel	ClinGen:CA012050
single nucleotide variant	NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	MSH6	Likely pathogenic	2	48030612	48030612	C	T	reviewed by expert panel	ClinGen:CA012063,UniProtKB:P52701#VAR_043965
Insertion	NM_000179.3(MSH6):c.3259_3260insT (p.Pro1087fs)	MSH6	Pathogenic	2	48030645	48030646	C	CT	reviewed by expert panel	ClinGen:CA012200
Deletion	NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	MSH6	Pathogenic	2	48030640	48030640	AC	A	reviewed by expert panel	ClinGen:CA012327,OMIM:600678.0017
Duplication	NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	MSH6	Pathogenic	2	48030639	48030640	A	AC	reviewed by expert panel	ClinGen:CA012175