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.251-2A>G	PMS2	Likely pathogenic	7	6043425	6043425	T	C	reviewed by expert panel	ClinGen:CA011625
Deletion	NM_000535.5(PMS2):c.354-?_(*160_?)del	PMS2	Pathogenic	7	6012870	6042267	na	na	reviewed by expert panel	-
Deletion	NM_000535.7(PMS2):c.538-478_705+456del	PMS2	Pathogenic	7	6038283	6039384	GCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAACCGGCCGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAGATACAAAAAATTAGCCTGGCGTAGTGGAGCATGCTTGTAATCCCACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGACAACACCACTGCACTCCAGCCTGGGCAGCAGTGCGAGACTCCCTCTCAAAAAAAAAAAAAAAATCAATTCTAAGATTTTATTCTCCATTCTACTGGAAGGGACAATGGAAACCCGCTATAATCACTAGAGCAATAAGAGGCGTTGAAGTAACCGGCCATCACTACCTGCTTCTGCCCAAACACAGAGCCGATATTTTCCTTTATGCTGGGGCTTCCACCTGTGCATACCACAGGCTGTCGTTTTCCTTGTCCAAGCTGATTGGTGCAACTTACACGGATGCCTGCTGAAATGATACAGTATGCATGTAAGACCTGGACCATTTTGGCATACTCCTGTTTAAAAAACACAAACACAATATTCTACATTACTTTAATATTATAGGAATTACACAGCTCAAGTTACAACATCCAACGCAAGGTTCTCACATCATCGCACAAATCAAGGGAAGCACTGTTGACAGAATGATCTGTAAAGAGGTGTCTTCCTATATTCTACAGAAAGGAACGCAGAGCTTTTGGCTCCTGGTCACAGTCCTCTCACTTCCCAATGTGCCATGCATCCTGGTAAAACAACTAAAAAGTACAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGCAGGAGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCTGTCTCTACAAAAAATTTAAAAAAAAAATTAGCCGGGCGTCATGGCATGTGCCTGTAGTCACAGCTACTGAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGTTCAAGGCTGCAGTGAGCCATGATTGCA	G	reviewed by expert panel	ClinGen:CA331763
Deletion	NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)	PMS2	Pathogenic	7	6038901	6038901	CA	C	reviewed by expert panel	ClinGen:CA012314
Duplication	NM_000535.7(PMS2):c.593dup (p.Arg199fs)	PMS2	Pathogenic	7	6038850	6038851	G	GA	reviewed by expert panel	ClinGen:CA331766
single nucleotide variant	NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)	PMS2	Pathogenic	7	6038747	6038747	G	A	reviewed by expert panel	ClinGen:CA012564
single nucleotide variant	NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)	PMS2	Pathogenic	7	6038741	6038741	G	A	reviewed by expert panel	ClinGen:CA012575
single nucleotide variant	NM_000535.7(PMS2):c.705+1G>T	PMS2	Likely pathogenic	7	6038738	6038738	C	A	reviewed by expert panel	ClinGen:CA012596
Indel	NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	PMS2	Pathogenic	7	6037019	6037024	AGGGGG	CTTCACACACA	reviewed by expert panel	ClinGen:CA012703,PMS2 @ LOVD:PMS2_00263,OMIM:600259.0015
Deletion	NM_000535.7(PMS2):c.780del (p.Asp261fs)	PMS2	Pathogenic	7	6036980	6036980	CG	C	reviewed by expert panel	ClinGen:CA012834