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_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
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.932G>A (p.Arg311Lys)	TGFB2	Likely pathogenic	1	218609489	218609489	G	A	criteria provided, single submitter	ClinGen:CA16617065
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
Duplication	NM_003238.6(TGFB2):c.252dup (p.Arg85fs)	TGFB2	Pathogenic	1	218520293	218520294	C	CG	criteria provided, single submitter	ClinGen:CA16610008
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
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.896G>A (p.Arg299Gln)	TGFB2	Pathogenic/Likely pathogenic	1	218609453	218609453	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603488
single nucleotide variant	NM_003238.6(TGFB2):c.644-2A>G	TGFB2	Likely pathogenic	1	218607678	218607678	A	G	criteria provided, single submitter	ClinGen:CA16042310
Deletion	NM_003238.6(TGFB2):c.419del (p.Asn140fs)	TGFB2	Likely pathogenic	1	218578582	218578582	GA	G	criteria provided, single submitter	ClinGen:CA16042309