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_000535.7(PMS2):c.2446-1G>T	PMS2	Likely pathogenic	7	6013174	6013174	C	A	criteria provided, single submitter	ClinGen:CA10578640
single nucleotide variant	NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)	PMS2	Pathogenic	7	6022474	6022474	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578653
single nucleotide variant	NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)	PMS2	Pathogenic	7	6022492	6022492	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578654
Deletion	NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs)	PMS2	Pathogenic	7	6026894	6026904	CACGGAAGTGCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578674
single nucleotide variant	NM_000535.7(PMS2):c.1198C>T (p.Gln400Ter)	PMS2	Pathogenic	7	6027198	6027198	G	A	criteria provided, single submitter	ClinGen:CA10578682
Deletion	NM_000535.7(PMS2):c.988+1del	PMS2	Likely pathogenic	7	6031603	6031603	AC	A	criteria provided, single submitter	ClinGen:CA10578689
single nucleotide variant	NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)	PMS2	Pathogenic	7	6035217	6035217	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578694
Deletion	NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)	PMS2	Pathogenic/Likely pathogenic	7	6035217	6035217	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578695
single nucleotide variant	NM_000535.7(PMS2):c.825A>G (p.Gln275=)	PMS2	Pathogenic/Likely pathogenic	7	6035243	6035243	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578696
Duplication	NM_000535.7(PMS2):c.325dup (p.Glu109fs)	PMS2	Pathogenic	7	6043348	6043349	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA4150133