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_003239.5(TGFB3):c.898C>T (p.Arg300Trp)	TGFB3	Pathogenic/Likely pathogenic	14	76429687	76429687	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA203905,OMIM:190230.0006
single nucleotide variant	NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser)	SMAD2	Pathogenic	18	45374908	45374908	C	G	criteria provided, single submitter	OMIM:601366.0008,ClinGen:CA249847
Deletion	NM_003238.6(TGFB2):c.196del (p.Glu66fs)	TGFB2	Pathogenic	1	218520238	218520238	CG	C	criteria provided, single submitter	-
Deletion	NM_003238.6(TGFB2):c.356del (p.Pro119fs)	TGFB2	Pathogenic	1	218578518	218578518	TC	T	criteria provided, single submitter	ClinGen:CA322864
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
Insertion	NM_003238.6(TGFB2):c.644_645insT (p.Arg216fs)	TGFB2	Likely pathogenic	1	218607680	218607681	A	AT	criteria provided, single submitter	ClinGen:CA319954
Duplication	NM_003238.6(TGFB2):c.821dup (p.Asn274fs)	TGFB2	Pathogenic/Likely pathogenic	1	218609370	218609371	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA322262
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
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_003242.6(TGFBR2):c.998T>A (p.Leu333Gln)	TGFBR2	Likely pathogenic	3	30713673	30713673	T	A	criteria provided, single submitter	ClinGen:CA324102