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.1510T>C (p.Trp504Arg)	TGFBR2	Likely pathogenic	3	30729989	30729989	T	C	criteria provided, single submitter	-
Deletion	NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs)	TGFBR2	Likely pathogenic	3	30729925	30729926	CCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser)	TGFBR2	Likely pathogenic	3	30713432	30713432	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg)	TGFBR2	Pathogenic	3	30713805	30713805	A	G	criteria provided, single submitter	ClinGen:CA351808600
single nucleotide variant	NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu)	TGFBR2	Pathogenic	3	30715721	30715721	G	T	criteria provided, single submitter	ClinGen:CA351809138
single nucleotide variant	NM_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg)	TGFBR2	Likely pathogenic	3	30713726	30713726	G	C	criteria provided, single submitter	ClinGen:CA351808443
single nucleotide variant	NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter)	TGFBR2	Likely pathogenic	3	30732950	30732950	G	A	criteria provided, single submitter	ClinGen:CA351809564
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_003242.6(TGFBR2):c.1259G>T (p.Gly420Val)	TGFBR2	Likely pathogenic	3	30715601	30715601	G	T	criteria provided, single submitter	ClinGen:CA351808880
single nucleotide variant	NM_003242.6(TGFBR2):c.1181G>A (p.Cys394Tyr)	TGFBR2	Likely pathogenic	3	30713856	30713856	G	A	criteria provided, single submitter	ClinGen:CA351808708