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_005902.4(SMAD3):c.946C>T (p.Gln316Ter)	SMAD3	Pathogenic	15	67477139	67477139	C	T	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	-
Deletion	NC_000009.12:g.(?_99105186)_(99105322_?)del	TGFBR1	Pathogenic	9	101867468	101867604	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_66703239)_(67190556_?)del	SMAD3	Pathogenic	15	66995577	67482894	na	na	criteria provided, single submitter	-
Deletion	NC_000014.9:g.(?_75958692)_(75965705_?)del	TGFB3	Likely pathogenic	14	76425035	76432048	na	na	criteria provided, single submitter	-
Deletion	NC_000014.9:g.(?_75958692)_(75971728_?)del	TGFB3	Likely pathogenic	14	76425035	76438071	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.206+1G>C	SMAD3	Likely pathogenic	15	67358699	67358699	G	C	criteria provided, single submitter	-