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.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.1346C>G (p.Ser449Cys)	TGFBR2	Pathogenic	3	30715688	30715688	C	G	criteria provided, single submitter	ClinGen:CA16611314
single nucleotide variant	NM_003242.6(TGFBR2):c.1338T>G (p.Asp446Glu)	TGFBR2	Likely pathogenic	3	30715680	30715680	T	G	criteria provided, single submitter	ClinGen:CA321430
single nucleotide variant	NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30715678	30715678	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P37173#VAR_066725,ClinGen:CA10588355
single nucleotide variant	NM_003242.6(TGFBR2):c.1279C>T (p.Pro427Ser)	TGFBR2	Likely pathogenic	3	30715621	30715621	C	T	criteria provided, single submitter	ClinGen:CA319801
single nucleotide variant	NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp)	TGFBR2	Pathogenic	3	30715619	30715619	C	A	criteria provided, single submitter	ClinGen:CA323900
single nucleotide variant	NM_003242.6(TGFBR2):c.1276G>A (p.Ala426Thr)	TGFBR2	Pathogenic	3	30715618	30715618	G	A	criteria provided, single submitter	ClinGen:CA321583
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.1271A>G (p.Tyr424Cys)	TGFBR2	Pathogenic	3	30715613	30715613	A	G	criteria provided, single submitter	ClinGen:CA10582147
single nucleotide variant	NM_003242.6(TGFBR2):c.1261A>G (p.Thr421Ala)	TGFBR2	Pathogenic	3	30715603	30715603	A	G	criteria provided, single submitter	ClinGen:CA10587570