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_003242.6(TGFBR2):c.1397-1G>A	TGFBR2	Pathogenic	3	30729875	30729875	G	A	criteria provided, single submitter	ClinGen:CA351809182
single nucleotide variant	NM_000249.4(MLH1):c.532G>T (p.Glu178Ter)	MLH1	Pathogenic	3	37050383	37050383	G	T	criteria provided, single submitter	ClinGen:CA352041057
Deletion	NM_000249.4(MLH1):c.796del (p.Leu266fs)	MLH1	Pathogenic	3	37059002	37059002	TC	T	criteria provided, single submitter	ClinGen:CA658655806
Deletion	NM_000249.4(MLH1):c.1447del (p.Glu483fs)	MLH1	Pathogenic	3	37070311	37070311	TG	T	criteria provided, single submitter	ClinGen:CA658655838
single nucleotide variant	NM_000249.4(MLH1):c.1667+1G>A	MLH1	Pathogenic/Likely pathogenic	3	37081786	37081786	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352060804
Duplication	NM_000249.4(MLH1):c.2161_2191dup (p.Pro731delinsLeuTer)	MLH1	Pathogenic	3	37092031	37092032	G	GTCTATAAAGCCTTGCGCTCACACATTCTGCC	criteria provided, single submitter	ClinGen:CA658655807
Deletion	NC_000007.13:g.(?_6026384)_(6027257_?)del	PMS2	Pathogenic	7	6026384	6027257	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_6002447)_(6004064_?)del	PMS2	Pathogenic	7	6042078	6043695	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5973393)_(5982997_?)del	PMS2	Pathogenic	7	6013024	6022628	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5977582)_(5977763_?)del	PMS2	Pathogenic	7	6017213	6017394	na	na	criteria provided, single submitter	-