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_003242.6(TGFBR2):c.1346C>G (p.Ser449Cys)	TGFBR2	Pathogenic	3	30715688	30715688	C	G	criteria provided, single submitter	ClinGen:CA16611314
single nucleotide variant	NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter)	TGFBR1	Pathogenic	9	101894916	101894916	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612807
single nucleotide variant	NM_004612.4(TGFBR1):c.944A>G (p.His315Arg)	TGFBR1	Pathogenic	9	101904956	101904956	A	G	criteria provided, single submitter	ClinGen:CA16612814
single nucleotide variant	NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu)	TGFBR1	Pathogenic/Likely pathogenic	9	101900266	101900266	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612911
single nucleotide variant	NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)	TGFB3	Pathogenic/Likely pathogenic	14	76427312	76427312	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614244
Deletion	NM_003239.5(TGFB3):c.883_884del (p.Gly295fs)	TGFB3	Pathogenic	14	76429701	76429702	ACC	A	criteria provided, single submitter	ClinGen:CA16614471
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.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.903_904dup (p.Glu302fs)	SMAD3	Pathogenic	15	67477093	67477094	A	AGG	criteria provided, single submitter	ClinGen:CA16614551
Deletion	NM_005902.4(SMAD3):c.427_431del (p.His143fs)	SMAD3	Pathogenic	15	67457616	67457620	GCCACA	G	criteria provided, single submitter	ClinGen:CA16614888