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
Duplication	NM_005901.6(SMAD2):c.773dup (p.Asn258fs)	SMAD2	Pathogenic	18	45377655	45377656	A	AT	criteria provided, single submitter	ClinGen:CA658799051
single nucleotide variant	NM_005901.6(SMAD2):c.53G>A (p.Trp18Ter)	SMAD2	Likely pathogenic	18	45423075	45423075	C	T	criteria provided, single submitter	ClinGen:CA402503551
single nucleotide variant	NM_005901.6(SMAD2):c.173T>A (p.Leu58Ter)	SMAD2	Pathogenic	18	45422955	45422955	A	T	criteria provided, single submitter	ClinGen:CA402502947
single nucleotide variant	NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter)	SMAD2	Pathogenic	18	45395659	45395659	C	A	criteria provided, single submitter	ClinGen:CA16620692,OMIM:601366.0007
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
single nucleotide variant	NM_005902.4(SMAD3):c.206+1G>C	SMAD3	Likely pathogenic	15	67358699	67358699	G	C	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_66703239)_(67190556_?)del	SMAD3	Pathogenic	15	66995577	67482894	na	na	criteria provided, single submitter	-
Duplication	NM_005902.4(SMAD3):c.1179dup (p.Cys394fs)	SMAD3	Likely pathogenic	15	67482770	67482771	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.946C>T (p.Gln316Ter)	SMAD3	Pathogenic	15	67477139	67477139	C	T	criteria provided, single submitter	-
Deletion	NM_005902.4(SMAD3):c.904del (p.Glu302fs)	SMAD3	Pathogenic	15	67477094	67477094	AG	A	criteria provided, single submitter	-