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
Deletion	NC_000015.10:g.(?_66703239)_(67190556_?)del	SMAD3	Pathogenic	15	66995577	67482894	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_99105186)_(99105322_?)del	TGFBR1	Pathogenic	9	101867468	101867604	na	na	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	-
Deletion	NM_005902.4(SMAD3):c.517del (p.Gln173fs)	SMAD3	Pathogenic	15	67457704	67457704	GC	G	criteria provided, single submitter	-
Duplication	NM_003238.6(TGFB2):c.990dup (p.Gly331fs)	TGFB2	Pathogenic	1	218610741	218610742	T	TA	criteria provided, single submitter	-
Indel	NM_003238.6(TGFB2):c.238_239delinsAAG (p.Glu80fs)	TGFB2	Pathogenic	1	218520281	218520282	GA	AAG	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_67186987)_(67187509_?)del	SMAD3	Pathogenic	15	67479325	67479847	na	na	criteria provided, single submitter	-
Duplication	NM_005902.4(SMAD3):c.1153dup (p.Arg385fs)	SMAD3	Pathogenic	15	67479845	67479846	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.1009G>T (p.Gly337Ter)	SMAD3	Pathogenic	15	67477202	67477202	G	T	criteria provided, single submitter	-