ロイス・ディーツ症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_003238.6(TGFB2):c.1140C>G (p.Cys380Trp)	TGFB2	Likely pathogenic	1	218614599	218614599	C	G	criteria provided, single submitter	ClinGen:CA16603492
single nucleotide variant	NM_003238.6(TGFB2):c.213C>A (p.Tyr71Ter)	TGFB2	Pathogenic	1	218520256	218520256	C	A	criteria provided, single submitter	ClinGen:CA16603523
Duplication	NM_003238.6(TGFB2):c.252dup (p.Arg85fs)	TGFB2	Pathogenic	1	218520293	218520294	C	CG	criteria provided, single submitter	ClinGen:CA16610008
Deletion	NM_003238.6(TGFB2):c.576_577del (p.Arg193fs)	TGFB2	Pathogenic	1	218607489	218607490	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617063
single nucleotide variant	NM_003238.6(TGFB2):c.932G>A (p.Arg311Lys)	TGFB2	Likely pathogenic	1	218609489	218609489	G	A	criteria provided, single submitter	ClinGen:CA16617065
Deletion	NM_003238.6(TGFB2):c.156del (p.Pro54fs)	TGFB2	Likely pathogenic	1	218520199	218520199	GT	G	criteria provided, single submitter	ClinGen:CA645369171
single nucleotide variant	NM_003238.6(TGFB2):c.905G>A (p.Arg302His)	TGFB2	Pathogenic/Likely pathogenic	1	218609462	218609462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344727314
single nucleotide variant	NM_003238.6(TGFB2):c.346+1G>A	TGFB2	Likely pathogenic	1	218520390	218520390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344725835
single nucleotide variant	NM_003238.6(TGFB2):c.932+1G>A	TGFB2	Pathogenic	1	218609490	218609490	G	A	criteria provided, single submitter	ClinGen:CA344727376
Deletion	NM_003238.6(TGFB2):c.892_901del (p.Arg298fs)	TGFB2	Pathogenic	1	218609449	218609458	CCGGCGGAAGA	C	criteria provided, single submitter	ClinGen:CA658656986