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
Indel	NM_003238.6(TGFB2):c.755-5_755-2delinsG	TGFB2	Likely pathogenic	1	218609307	218609310	TCAA	G	criteria provided, single submitter	ClinGen:CA658795609
Insertion	NM_003238.6(TGFB2):c.644_645insT (p.Arg216fs)	TGFB2	Likely pathogenic	1	218607680	218607681	A	AT	criteria provided, single submitter	ClinGen:CA319954
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.583G>T (p.Glu195Ter)	TGFB2	Pathogenic	1	218607496	218607496	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA323602
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.547C>T (p.Arg183Cys)	TGFB2	Likely pathogenic	1	218607460	218607460	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter)	TGFB2	Pathogenic/Likely pathogenic	1	218607457	218607457	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346685
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.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