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_000249.4(MLH1):c.131C>A (p.Ser44Tyr)	MLH1	Pathogenic/Likely pathogenic	3	37038124	37038124	C	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000249.4(MLH1):c.793_794delinsGT (p.Arg265Val)	MLH1	Pathogenic	3	37058999	37059000	CG	GT	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.366+2T>C	MSH2	Pathogenic/Likely pathogenic	2	47635696	47635696	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.1277-2A>T	MSH2	Pathogenic/Likely pathogenic	2	47672685	47672685	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.1511-1G>A	MSH2	Pathogenic/Likely pathogenic	2	47693796	47693796	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.2458+2T>C	MSH2	Likely pathogenic	2	47705660	47705660	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.2634+2T>C	MSH2	Pathogenic	2	47708012	47708012	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.3801+2T>C	MSH6	Likely pathogenic	2	48033499	48033499	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.380+1G>T	MLH1	Pathogenic	3	37045966	37045966	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.453+2T>G	MLH1	Pathogenic	3	37048556	37048556	T	G	criteria provided, single submitter	-