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.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.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.1397-1G>A	TGFBR2	Pathogenic	3	30729875	30729875	G	A	criteria provided, single submitter	ClinGen:CA351809182
single nucleotide variant	NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter)	TGFBR1	Pathogenic	9	101900299	101900299	G	T	criteria provided, single submitter	ClinGen:CA374229855
single nucleotide variant	NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter)	TGFBR1	Pathogenic	9	101900347	101900347	G	T	criteria provided, single submitter	ClinGen:CA374230291
single nucleotide variant	NM_003239.5(TGFB3):c.353-1G>C	TGFB3	Likely pathogenic	14	76438062	76438062	C	G	criteria provided, single submitter	ClinGen:CA390470382
single nucleotide variant	NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter)	TGFB3	Pathogenic/Likely pathogenic	14	76427373	76427373	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390468002
Duplication	NM_005902.4(SMAD3):c.246dup (p.Leu83fs)	SMAD3	Pathogenic	15	67457268	67457269	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656499
single nucleotide variant	NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter)	TGFB3	Pathogenic	14	76427357	76427357	C	T	criteria provided, single submitter	ClinGen:CA390467972
Deletion	NC_000015.10:g.(?_67190393)_(67190556_?)del	SMAD3	Likely pathogenic	15	67482731	67482894	na	na	criteria provided, single submitter	-