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_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_003238.6(TGFB2):c.1140C>G (p.Cys380Trp)	TGFB2	Likely pathogenic	1	218614599	218614599	C	G	criteria provided, single submitter	ClinGen:CA16603492
single nucleotide variant	NM_003238.6(TGFB2):c.213C>A (p.Tyr71Ter)	TGFB2	Pathogenic	1	218520256	218520256	C	A	criteria provided, single submitter	ClinGen:CA16603523
single nucleotide variant	NM_003242.6(TGFBR2):c.1610G>A (p.Arg537His)	TGFBR2	Likely pathogenic	3	30732997	30732997	G	A	criteria provided, single submitter	ClinGen:CA16604407
single nucleotide variant	NM_004612.4(TGFBR1):c.1460G>T (p.Arg487Leu)	TGFBR1	Likely pathogenic	9	101911535	101911535	G	T	criteria provided, single submitter	ClinGen:CA16605939
single nucleotide variant	NM_003239.5(TGFB3):c.826C>T (p.Pro276Ser)	TGFB3	Likely pathogenic	14	76429759	76429759	G	A	criteria provided, single submitter	ClinGen:CA16607020
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_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)	TGFBR2	Pathogenic	3	30715723	30715723	T	C	criteria provided, single submitter	ClinGen:CA351809141
Duplication	NM_003238.6(TGFB2):c.252dup (p.Arg85fs)	TGFB2	Pathogenic	1	218520293	218520294	C	CG	criteria provided, single submitter	ClinGen:CA16610008
single nucleotide variant	NM_003242.6(TGFBR2):c.1531C>T (p.Gln511Ter)	TGFBR2	Likely pathogenic	3	30732918	30732918	C	T	criteria provided, single submitter	ClinGen:CA16611191