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.1136A>T (p.Asp379Val)	TGFBR2	Pathogenic	3	30713811	30713811	A	T	criteria provided, single submitter	ClinGen:CA10587568
single nucleotide variant	NM_003242.6(TGFBR2):c.1178G>A (p.Cys393Tyr)	TGFBR2	Pathogenic	3	30713853	30713853	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587569
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
single nucleotide variant	NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn)	TGFBR2	Likely pathogenic	3	30713864	30713864	G	A	criteria provided, single submitter	ClinGen:CA10587567
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.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.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.1261A>G (p.Thr421Ala)	TGFBR2	Pathogenic	3	30715603	30715603	A	G	criteria provided, single submitter	ClinGen:CA10587570
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.1273A>G (p.Met425Val)	TGFBR2	Pathogenic	3	30715615	30715615	A	G	criteria provided, single submitter	ClinGen:CA020640,OMIM:190182.0017