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.1571G>C (p.Arg524Pro)	MSH2	Likely pathogenic	2	47693857	47693857	G	C	reviewed by expert panel	OMIM:609309.0007,ClinGen:CA018643,UniProtKB:P43246#VAR_004479
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.1540T>C (p.Cys514Arg)	TGFBR2	Likely pathogenic	3	30732927	30732927	T	C	criteria provided, single submitter	ClinGen:CA020708,UniProtKB:P37173#VAR_066730
single nucleotide variant	NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)	TGFBR2	Likely pathogenic	3	30729974	30729974	G	T	criteria provided, single submitter	ClinGen:CA020693
single nucleotide variant	NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	MSH6	Likely pathogenic	2	48027179	48027179	G	A	reviewed by expert panel	ClinGen:CA009620
single nucleotide variant	NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)	MSH6	Likely pathogenic	2	48027239	48027239	T	C	reviewed by expert panel	ClinGen:CA009702
single nucleotide variant	NM_000179.3(MSH6):c.2341C>T (p.Pro781Ser)	MSH6	Likely pathogenic	2	48027463	48027463	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.3172+1G>T	MSH6	Likely pathogenic	2	48028295	48028295	G	T	reviewed by expert panel	ClinGen:CA011722
single nucleotide variant	NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	MSH6	Likely pathogenic	2	48030612	48030612	C	T	reviewed by expert panel	ClinGen:CA012063,UniProtKB:P52701#VAR_043965
single nucleotide variant	NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)	MSH6	Likely pathogenic	2	48030801	48030801	G	A	criteria provided, single submitter	-