ロイス・ディーツ症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_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_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.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.53G>A (p.Trp18Ter)	SMAD2	Likely pathogenic	18	45423075	45423075	C	T	criteria provided, single submitter	ClinGen:CA402503551
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_005902.4(SMAD3):c.859C>T (p.Arg287Trp)	SMAD3	Pathogenic	15	67473779	67473779	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020130,UniProtKB:P84022#VAR_065579,OMIM:603109.0001
Deletion	NM_005902.4(SMAD3):c.653del (p.Asn218fs)	SMAD3	Pathogenic	15	67462936	67462936	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020097,OMIM:603109.0004
single nucleotide variant	NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)	SMAD3	Likely pathogenic	15	67473635	67473635	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P84022#VAR_067047,OMIM:603109.0006,ClinGen:CA020100
single nucleotide variant	NM_005902.4(SMAD3):c.364G>A (p.Val122Met)	SMAD3	Likely pathogenic	15	67457390	67457390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020081
single nucleotide variant	NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)	SMAD3	Pathogenic/Likely pathogenic	15	67473780	67473780	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020135