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.138del (p.Gln47fs)	SMAD3	Pathogenic	15	67358627	67358627	CG	C	criteria provided, single submitter	ClinGen:CA658658298
Deletion	NC_000015.10:g.(?_67190393)_(67190556_?)del	SMAD3	Likely pathogenic	15	67482731	67482894	na	na	criteria provided, single submitter	-
Duplication	NM_005902.4(SMAD3):c.246dup (p.Leu83fs)	SMAD3	Pathogenic	15	67457268	67457269	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656499
single nucleotide variant	NM_005902.4(SMAD3):c.5C>A (p.Ser2Ter)	SMAD3	Pathogenic/Likely pathogenic	15	67358497	67358497	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA393202677
Deletion	NM_005902.4(SMAD3):c.539del (p.Pro180fs)	SMAD3	Pathogenic	15	67459120	67459120	AC	A	criteria provided, single submitter	ClinGen:CA645509194
single nucleotide variant	NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter)	SMAD3	Pathogenic	15	67479795	67479795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619995
Duplication	NM_005902.4(SMAD3):c.1086_1098dup (p.Thr367fs)	SMAD3	Pathogenic/Likely pathogenic	15	67479778	67479779	C	CTGTCTACCAGTTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619994
Deletion	NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer)	SMAD3	Pathogenic/Likely pathogenic	15	67358545	67358545	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619990
Deletion	NM_005902.4(SMAD3):c.427_431del (p.His143fs)	SMAD3	Pathogenic	15	67457616	67457620	GCCACA	G	criteria provided, single submitter	ClinGen:CA16614888
Duplication	NM_005902.4(SMAD3):c.903_904dup (p.Glu302fs)	SMAD3	Pathogenic	15	67477093	67477094	A	AGG	criteria provided, single submitter	ClinGen:CA16614551