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
Deletion	NM_005902.4(SMAD3):c.138del (p.Gln47fs)	SMAD3	Pathogenic	15	67358627	67358627	CG	C	criteria provided, single submitter	ClinGen:CA658658298
single nucleotide variant	NM_003239.5(TGFB3):c.927-1G>C	TGFB3	Likely pathogenic	14	76427420	76427420	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA7280296
single nucleotide variant	NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter)	TGFBR2	Likely pathogenic	3	30732950	30732950	G	A	criteria provided, single submitter	ClinGen:CA351809564
single nucleotide variant	NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)	TGFBR1	Likely pathogenic	9	101900206	101900206	G	A	criteria provided, single submitter	ClinGen:CA374229530
single nucleotide variant	NM_003239.5(TGFB3):c.106A>T (p.Lys36Ter)	TGFB3	Pathogenic	14	76447131	76447131	T	A	criteria provided, single submitter	ClinGen:CA390471648
single nucleotide variant	NM_005901.6(SMAD2):c.53G>A (p.Trp18Ter)	SMAD2	Likely pathogenic	18	45423075	45423075	C	T	criteria provided, single submitter	ClinGen:CA402503551
single nucleotide variant	NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)	TGFB2	Pathogenic/Likely pathogenic	1	218610710	218610710	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344727446,OMIM:190220.0005
Deletion	NM_005902.4(SMAD3):c.769del (p.Val257fs)	SMAD3	Pathogenic	15	67473689	67473689	TG	T	criteria provided, single submitter	ClinGen:CA658798396
Deletion	NM_003238.6(TGFB2):c.280del (p.Ser94fs)	TGFB2	Pathogenic	1	218520323	218520323	GA	G	criteria provided, single submitter	ClinGen:CA658795601
single nucleotide variant	NM_003238.6(TGFB2):c.1023C>A (p.Tyr341Ter)	TGFB2	Pathogenic	1	218610775	218610775	C	A	criteria provided, single submitter	ClinGen:CA344727592