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.391C>T (p.Arg131Ter)	TGFB2	Pathogenic/Likely pathogenic	1	218578555	218578555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351959
single nucleotide variant	NM_003238.6(TGFB2):c.297C>A (p.Tyr99Ter)	TGFB2	Pathogenic	1	218520340	218520340	C	A	criteria provided, single submitter	ClinGen:CA353619
single nucleotide variant	NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)	TGFB2	Pathogenic/Likely pathogenic	1	218609461	218609461	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354091
Deletion	NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs)	TGFB2	Pathogenic	1	218610773	218610777	GTACAA	G	criteria provided, single submitter	ClinGen:CA281903,OMIM:190220.0003
Deletion	Single allele	TGFB2	Pathogenic	1	215588712	222145072	na	na	criteria provided, single submitter	-
Deletion	Single allele	TGFB2	Pathogenic	1	216672181	220202575	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser)	TGFB2	Pathogenic/Likely pathogenic	1	218609461	218609461	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581764
Deletion	NM_003238.6(TGFB2):c.419del (p.Asn140fs)	TGFB2	Likely pathogenic	1	218578582	218578582	GA	G	criteria provided, single submitter	ClinGen:CA16042309
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
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