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.904C>A (p.Arg302Ser)	TGFB2	Pathogenic/Likely pathogenic	1	218609461	218609461	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581764
Deletion	Single allele	TGFB2	Pathogenic	1	216672181	220202575	na	na	criteria provided, single submitter	-
Deletion	Single allele	TGFB2	Pathogenic	1	215588712	222145072	na	na	criteria provided, single submitter	-
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
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
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.391C>T (p.Arg131Ter)	TGFB2	Pathogenic/Likely pathogenic	1	218578555	218578555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351959
Duplication	NM_003238.6(TGFB2):c.370dup (p.Arg124fs)	TGFB2	Likely pathogenic	1	218578533	218578534	C	CA	criteria provided, single submitter	ClinGen:CA351821
single nucleotide variant	NM_003238.6(TGFB2):c.953G>T (p.Cys318Phe)	TGFB2	Likely pathogenic	1	218610705	218610705	G	T	criteria provided, single submitter	ClinGen:CA322411
single nucleotide variant	NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)	TGFB2	Pathogenic/Likely pathogenic	1	218609452	218609452	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA320073,UniProtKB:P61812#VAR_068932