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_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
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.442C>T (p.Arg148Ter)	TGFB3	Pathogenic/Likely pathogenic	14	76437972	76437972	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607024
single nucleotide variant	NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)	TGFB2	Pathogenic/Likely pathogenic	1	218609453	218609453	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603488
single nucleotide variant	NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30715678	30715678	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P37173#VAR_066725,ClinGen:CA10588355
single nucleotide variant	NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)	TGFBR1	Pathogenic/Likely pathogenic	9	101900323	101900323	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587682
single nucleotide variant	NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser)	TGFB2	Pathogenic/Likely pathogenic	1	218609461	218609461	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581764
single nucleotide variant	NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)	TGFB2	Pathogenic/Likely pathogenic	1	218609461	218609461	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354091
single nucleotide variant	NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter)	TGFB2	Pathogenic/Likely pathogenic	1	218578555	218578555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351959
single nucleotide variant	NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)	TGFBR2	Pathogenic/Likely pathogenic	3	30729887	30729887	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA321611