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.346+1G>T	TGFB2	Likely pathogenic	1	218520390	218520390	G	T	criteria provided, multiple submitters, no conflicts	-
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.297C>A (p.Tyr99Ter)	TGFB2	Pathogenic	1	218520340	218520340	C	A	criteria provided, single submitter	ClinGen:CA353619
Duplication	NM_003238.6(TGFB2):c.294_297dup (p.Ala100fs)	TGFB2	Likely pathogenic	1	218520336	218520337	A	ACTAC	criteria provided, single submitter	-
Deletion	NM_003238.6(TGFB2):c.280del (p.Ser94fs)	TGFB2	Pathogenic	1	218520323	218520323	GA	G	criteria provided, single submitter	ClinGen:CA658795601
Duplication	NM_003238.6(TGFB2):c.252dup (p.Arg85fs)	TGFB2	Pathogenic	1	218520293	218520294	C	CG	criteria provided, single submitter	ClinGen:CA16610008
Indel	NM_003238.6(TGFB2):c.238_239delinsAAG (p.Glu80fs)	TGFB2	Pathogenic	1	218520281	218520282	GA	AAG	criteria provided, single submitter	-
Deletion	NM_003238.6(TGFB2):c.229_245del (p.Leu77fs)	TGFB2	Pathogenic	1	218520271	218520287	ACTTGCTCCAGGAGAAGG	A	criteria provided, single submitter	ClinGen:CA658795600
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
Deletion	NM_003238.6(TGFB2):c.196del (p.Glu66fs)	TGFB2	Pathogenic	1	218520238	218520238	CG	C	criteria provided, single submitter	-