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_000179.3(MSH6):c.4002-1G>A	MSH6	Likely pathogenic	2	48033917	48033917	G	A	criteria provided, single submitter	ClinGen:CA346761618
single nucleotide variant	NM_000249.4(MLH1):c.589C>T (p.Gln197Ter)	MLH1	Pathogenic	3	37053502	37053502	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352042295
Duplication	NM_000249.4(MLH1):c.1578_1579dup (p.Asn527fs)	MLH1	Pathogenic	3	37081694	37081695	C	CAT	criteria provided, single submitter	ClinGen:CA658655773
Deletion	NM_000249.4(MLH1):c.1667+1del	MLH1	Likely pathogenic	3	37081785	37081785	AG	A	criteria provided, single submitter	ClinGen:CA658655780
single nucleotide variant	NM_000249.4(MLH1):c.1731+4A>G	MLH1	Pathogenic	3	37083826	37083826	A	G	criteria provided, single submitter	ClinGen:CA658655788
Indel	NM_000249.4(MLH1):c.1304_1305delinsTGCTGAAGTGGCT (p.Pro435fs)	MLH1	Pathogenic	3	37067393	37067394	CA	TGCTGAAGTGGCT	criteria provided, single submitter	ClinGen:CA658655831
Deletion	NM_000249.4(MLH1):c.997_1000del (p.Lys333fs)	MLH1	Pathogenic	3	37061910	37061913	GAGCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655818
single nucleotide variant	NM_000249.4(MLH1):c.1883T>A (p.Leu628Ter)	MLH1	Pathogenic	3	37089161	37089161	T	A	criteria provided, single submitter	ClinGen:CA352065333
single nucleotide variant	NM_000249.4(MLH1):c.1315G>T (p.Glu439Ter)	MLH1	Pathogenic	3	37067404	37067404	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352053420
single nucleotide variant	NM_000249.4(MLH1):c.1943C>G (p.Pro648Arg)	MLH1	Likely pathogenic	3	37090054	37090054	C	G	criteria provided, single submitter	ClinGen:CA352065742