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
Duplication	NM_000179.3(MSH6):c.651dup (p.Lys218Ter)	MSH6	Pathogenic	2	48025772	48025773	A	AT	reviewed by expert panel	ClinGen:CA016144,OMIM:600678.0007
Duplication	NM_000179.3(MSH6):c.3633dup (p.Val1212fs)	MSH6	Pathogenic	2	48032831	48032832	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA340847,OMIM:600678.0015
single nucleotide variant	NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	PMS2	Pathogenic	7	6042221	6042221	G	A	reviewed by expert panel	ClinGen:CA012083,OMIM:600259.0001
Deletion	NM_000535.7(PMS2):c.1221del (p.Thr408fs)	PMS2	Pathogenic	7	6027175	6027175	TC	T	reviewed by expert panel	ClinGen:CA009346,OMIM:600259.0002
single nucleotide variant	NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	PMS2	Pathogenic	7	6017260	6017260	G	A	reviewed by expert panel	ClinGen:CA011441,OMIM:600259.0004
Deletion	NM_000535.7(PMS2):c.1021del (p.Arg341fs)	PMS2	Pathogenic	7	6029554	6029554	CT	C	reviewed by expert panel	ClinGen:CA009113,PMS2 @ LOVD:PMS2_00045,OMIM:600259.0007
single nucleotide variant	NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)	PMS2	Pathogenic	7	6026514	6026514	G	A	reviewed by expert panel	ClinGen:CA010399,OMIM:600259.0009
Indel	NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)	PMS2	Pathogenic/Likely pathogenic	7	6026664	6026665	GC	ACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040598,OMIM:600259.0011
single nucleotide variant	NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	PMS2	Likely pathogenic	7	6045549	6045549	C	A	reviewed by expert panel	ClinGen:CA009597,UniProtKB:P54278#VAR_066838,OMIM:600259.0012
single nucleotide variant	NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln)	TGFBR2	Pathogenic	3	30732963	30732963	G	C	criteria provided, single submitter	OMIM:190182.0003,ClinGen:CA020721,UniProtKB:P37173#VAR_015816