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
single nucleotide variant	NM_005902.4(SMAD3):c.797C>A (p.Ser266Ter)	SMAD3	Pathogenic	15	67473717	67473717	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614549
Duplication	NM_005902.4(SMAD3):c.246_247dup (p.Leu83fs)	SMAD3	Pathogenic	15	67457271	67457272	G	GGC	criteria provided, single submitter	ClinGen:CA16614482
single nucleotide variant	NM_005902.4(SMAD3):c.228G>T (p.Gln76His)	SMAD3	Likely pathogenic	15	67457254	67457254	G	T	criteria provided, single submitter	ClinGen:CA10602646
single nucleotide variant	NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr)	SMAD3	Likely pathogenic	15	67479847	67479847	G	C	criteria provided, single submitter	ClinGen:CA10587882
single nucleotide variant	NM_005902.4(SMAD3):c.1222G>C (p.Asp408His)	SMAD3	Likely pathogenic	15	67482818	67482818	G	C	criteria provided, single submitter	ClinGen:CA322624
Duplication	NM_005902.4(SMAD3):c.990dup (p.Val331fs)	SMAD3	Pathogenic	15	67477181	67477182	A	AC	criteria provided, single submitter	ClinGen:CA322583
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