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	Single allele	TGFB2	Pathogenic	1	215588712	222145072	na	na	criteria provided, single submitter	-
Deletion	Single allele	TGFB2	Pathogenic	1	216672181	220202575	na	na	criteria provided, single submitter	-
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.1139G>T (p.Cys380Phe)	TGFB2	Likely pathogenic	1	218614598	218614598	G	T	criteria provided, single submitter	ClinGen:CA344727869
single nucleotide variant	NM_003238.6(TGFB2):c.1086+1G>A	TGFB2	Likely pathogenic	1	218610839	218610839	G	A	criteria provided, single submitter	-
Deletion	NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs)	TGFB2	Pathogenic	1	218610773	218610777	GTACAA	G	criteria provided, single submitter	ClinGen:CA281903,OMIM:190220.0003
single nucleotide variant	NM_003238.6(TGFB2):c.1023C>A (p.Tyr341Ter)	TGFB2	Pathogenic	1	218610775	218610775	C	A	criteria provided, single submitter	ClinGen:CA344727592
single nucleotide variant	NM_003238.6(TGFB2):c.1013C>A (p.Pro338His)	TGFB2	Pathogenic	1	218610765	218610765	C	A	criteria provided, single submitter	ClinGen:CA281898,OMIM:190220.0001
Duplication	NM_003238.6(TGFB2):c.990dup (p.Gly331fs)	TGFB2	Pathogenic	1	218610741	218610742	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)	TGFB2	Pathogenic/Likely pathogenic	1	218610710	218610710	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344727446,OMIM:190220.0005