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
Deletion	NM_005902.4(SMAD3):c.851_864del (p.Glu284fs)	SMAD3	Pathogenic	15	67473771	67473784	GAGCTGACACGGAGA	G	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_67181221)_(67181473_?)del	SMAD3	Pathogenic	15	67473559	67473811	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.872G>T (p.Gly291Val)	SMAD3	Likely pathogenic	15	67477065	67477065	G	T	criteria provided, single submitter	ClinGen:CA392956636
Duplication	NC_000015.9:g.(?_67457213)_(67462962_?)dup	SMAD3	Likely pathogenic	15	67457213	67462962	na	na	criteria provided, single submitter	-
Deletion	NM_005902.4(SMAD3):c.1229_1244del (p.Val410fs)	SMAD3	Likely pathogenic	15	67482823	67482838	AGGTCCTCACCCAGATG	A	criteria provided, single submitter	ClinGen:CA658798398
Deletion	NM_005902.4(SMAD3):c.648del (p.His216fs)	SMAD3	Likely pathogenic	15	67462932	67462932	AT	A	criteria provided, single submitter	ClinGen:CA658798395
single nucleotide variant	NM_005902.4(SMAD3):c.871G>T (p.Gly291Ter)	SMAD3	Pathogenic	15	67473791	67473791	G	T	criteria provided, single submitter	ClinGen:CA392956433
single nucleotide variant	NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg)	SMAD3	Pathogenic/Likely pathogenic	15	67473653	67473653	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392956090
single nucleotide variant	NM_005902.4(SMAD3):c.1A>C (p.Met1Leu)	SMAD3	Likely pathogenic	15	67358493	67358493	A	C	criteria provided, single submitter	ClinGen:CA393202665
Deletion	NM_005902.4(SMAD3):c.769del (p.Val257fs)	SMAD3	Pathogenic	15	67473689	67473689	TG	T	criteria provided, single submitter	ClinGen:CA658798396