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.942del (p.Phe314fs)	SMAD3	Pathogenic/Likely pathogenic	15	67477131	67477131	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323883
single nucleotide variant	NM_005902.4(SMAD3):c.871+2T>C	SMAD3	Pathogenic	15	67473793	67473793	T	C	criteria provided, single submitter	ClinGen:CA320562
single nucleotide variant	NM_005902.4(SMAD3):c.821T>C (p.Leu274Pro)	SMAD3	Likely pathogenic	15	67473741	67473741	T	C	criteria provided, single submitter	ClinGen:CA323399
single nucleotide variant	NM_005902.4(SMAD3):c.803G>A (p.Arg268His)	SMAD3	Pathogenic/Likely pathogenic	15	67473723	67473723	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321807
single nucleotide variant	NM_005902.4(SMAD3):c.787C>G (p.Pro263Ala)	SMAD3	Pathogenic	15	67473707	67473707	C	G	criteria provided, single submitter	ClinGen:CA321192
single nucleotide variant	NM_005902.4(SMAD3):c.772G>C (p.Asp258His)	SMAD3	Likely pathogenic	15	67473692	67473692	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA325318
single nucleotide variant	NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg)	SMAD3	Pathogenic/Likely pathogenic	15	67473653	67473653	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323714
Duplication	NM_005902.4(SMAD3):c.492dup (p.Asn165Ter)	SMAD3	Pathogenic	15	67457681	67457682	C	CT	criteria provided, single submitter	-
Deletion	NM_005902.4(SMAD3):c.483del (p.Glu162fs)	SMAD3	Pathogenic	15	67457670	67457670	TC	T	criteria provided, single submitter	ClinGen:CA323716
Deletion	NM_005902.4(SMAD3):c.455del (p.Pro152fs)	SMAD3	Pathogenic	15	67457640	67457640	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA320725