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_000251.3(MSH2):c.2459-1G>A	MSH2	Pathogenic/Likely pathogenic	2	47707834	47707834	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611057
Duplication	NM_000179.3(MSH6):c.3827_3830dup (p.Asp1277fs)	MSH6	Pathogenic	2	48033615	48033616	G	GAAGA	criteria provided, single submitter	ClinGen:CA16611075
Duplication	NM_000179.3(MSH6):c.3850_3857dup (p.Tyr1287fs)	MSH6	Pathogenic	2	48033637	48033638	T	TTACGTTCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611082
Deletion	NM_000179.3(MSH6):c.442_443del (p.Leu148fs)	MSH6	Pathogenic	2	48018245	48018246	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611100
Insertion	NM_000179.3(MSH6):c.1295_1296insAA (p.Phe432fs)	MSH6	Pathogenic	2	48026417	48026418	T	TAA	criteria provided, single submitter	ClinGen:CA16611128
Deletion	NC_000003.12:g.(?_36996619)_(37001053_?)del	MLH1	Pathogenic	3	37038110	37042544	na	na	criteria provided, single submitter	-
Deletion	NM_000249.3(MLH1):c.208-?_306+?del	MLH1	Pathogenic	3	37042446	37042544	na	na	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3149del (p.Ala1050fs)	MSH6	Pathogenic	2	48028271	48028271	GC	G	criteria provided, single submitter	ClinGen:CA16611163
Deletion	NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs)	MSH6	Pathogenic	2	48032775	48032779	GTTGAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611172
single nucleotide variant	NM_003242.6(TGFBR2):c.1531C>T (p.Gln511Ter)	TGFBR2	Likely pathogenic	3	30732918	30732918	C	T	criteria provided, single submitter	ClinGen:CA16611191