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.1256T>A (p.Val419Glu)	TGFBR2	Likely pathogenic	3	30715598	30715598	T	A	criteria provided, single submitter	ClinGen:CA324927
single nucleotide variant	NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu)	TGFBR2	Likely pathogenic	3	30715597	30715597	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322630
single nucleotide variant	NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser)	TGFBR2	Likely pathogenic	3	30713795	30713795	C	T	criteria provided, single submitter	ClinGen:CA320627
single nucleotide variant	NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln)	TGFBR2	Likely pathogenic	3	30713673	30713673	T	A	criteria provided, single submitter	ClinGen:CA324102
single nucleotide variant	NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30732957	30732957	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020712
single nucleotide variant	NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)	TGFBR2	Pathogenic	3	30713742	30713742	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020594
single nucleotide variant	NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg)	TGFBR2	Pathogenic/Likely pathogenic	3	30713534	30713534	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020788
Deletion	NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del)	TGFBR2	Likely pathogenic	3	30732933	30732944	GTGAGACGTTGAC	G	criteria provided, single submitter	ClinGen:CA10575669
single nucleotide variant	NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)	TGFBR2	Likely pathogenic	3	30715724	30715724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020670
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