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_000535.7(PMS2):c.741del (p.Ser248fs)	PMS2	Pathogenic/Likely pathogenic	7	6037019	6037019	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)	MSH6	Pathogenic/Likely pathogenic	2	48033741	48033741	A	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)	MSH6	Pathogenic/Likely pathogenic	2	48033708	48033709	A	AATCT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)	MSH6	Pathogenic/Likely pathogenic	2	48010396	48010396	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.2275+1G>C	PMS2	Pathogenic/Likely pathogenic	7	6018226	6018226	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.546-1G>C	MLH1	Pathogenic/Likely pathogenic	3	37053310	37053310	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)	MLH1	Pathogenic/Likely pathogenic	3	37090475	37090475	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp)	MLH1	Pathogenic/Likely pathogenic	3	37090100	37090100	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.320T>A (p.Ile107Lys)	MLH1	Pathogenic/Likely pathogenic	3	37045905	37045905	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)	MSH2	Pathogenic/Likely pathogenic	2	47643490	47643490	G	T	criteria provided, multiple submitters, no conflicts	-