ロイス・ディーツ症候群

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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.1576G>C (p.Glu526Gln)	TGFBR2	Pathogenic	3	30732963	30732963	G	C	criteria provided, single submitter	OMIM:190182.0003,ClinGen:CA020721,UniProtKB:P37173#VAR_015816
single nucleotide variant	NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)	TGFBR2	Pathogenic	3	30730003	30730003	G	A	criteria provided, single submitter	ClinGen:CA020701,OMIM:190182.0004
single nucleotide variant	NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	TGFBR2	Pathogenic/Likely pathogenic	3	30732996	30732996	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020742,UniProtKB:P37173#VAR_022362,OMIM:190182.0007
single nucleotide variant	NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)	TGFBR2	Pathogenic	3	30732970	30732970	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020730,UniProtKB:P37173#VAR_022361,OMIM:190182.0011
single nucleotide variant	NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)	TGFBR2	Pathogenic	3	30732969	30732969	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020726,UniProtKB:P37173#VAR_022360,OMIM:190182.0012
single nucleotide variant	NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)	TGFBR2	Pathogenic	3	30715720	30715720	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020661,UniProtKB:P37173#VAR_029760,OMIM:190182.0014
single nucleotide variant	NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)	TGFBR2	Pathogenic	3	30715721	30715721	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020664,UniProtKB:P37173#VAR_029761,OMIM:190182.0015
single nucleotide variant	NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)	TGFBR2	Pathogenic	3	30715615	30715615	A	G	criteria provided, single submitter	ClinGen:CA020640,OMIM:190182.0017
single nucleotide variant	NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)	TGFBR2	Pathogenic	3	30729962	30729962	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020690,OMIM:190182.0019
single nucleotide variant	NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	TGFBR1	Pathogenic/Likely pathogenic	9	101900288	101900288	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008855,UniProtKB:P36897#VAR_029482,OMIM:190181.0005