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_000249.4(MLH1):c.1864del (p.Ala623fs)	MLH1	Likely pathogenic	3	37089142	37089142	GC	G	criteria provided, single submitter	-
Indel	NM_000249.4(MLH1):c.1410-2_1410-1delinsCC	MLH1	Pathogenic/Likely pathogenic	3	37070273	37070274	AG	CC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000535.7(PMS2):c.873del (p.Phe291fs)	PMS2	Pathogenic/Likely pathogenic	7	6035195	6035195	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs)	MSH2	Pathogenic	2	47702360	47702367	CTAATGACG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)	MSH2	Pathogenic/Likely pathogenic	2	47643507	47643507	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)	MSH6	Pathogenic/Likely pathogenic	2	48027214	48027214	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter)	MSH6	Pathogenic/Likely pathogenic	2	48033609	48033609	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000535.7(PMS2):c.678_681dup (p.Gly228fs)	PMS2	Likely pathogenic	7	6038762	6038763	C	CGATA	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.942+1del	MSH2	Likely pathogenic	2	47641557	47641557	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.3G>T (p.Met1Ile)	MLH1	Likely pathogenic	3	37035041	37035041	G	T	criteria provided, single submitter	-