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	NM_003238.6(TGFB2):c.576_577del (p.Arg193fs)	TGFB2	Pathogenic	1	218607489	218607490	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617063
single nucleotide variant	NM_003238.6(TGFB2):c.932G>A (p.Arg311Lys)	TGFB2	Likely pathogenic	1	218609489	218609489	G	A	criteria provided, single submitter	ClinGen:CA16617065
single nucleotide variant	NM_004612.4(TGFBR1):c.680A>T (p.Glu227Val)	TGFBR1	Likely pathogenic	9	101900246	101900246	A	T	criteria provided, single submitter	ClinGen:CA16618918
Deletion	NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer)	SMAD3	Pathogenic/Likely pathogenic	15	67358545	67358545	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619990
Duplication	NM_005902.4(SMAD3):c.1086_1098dup (p.Thr367fs)	SMAD3	Pathogenic/Likely pathogenic	15	67479778	67479779	C	CTGTCTACCAGTTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619994
single nucleotide variant	NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter)	SMAD3	Pathogenic	15	67479795	67479795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619995
single nucleotide variant	NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter)	SMAD2	Pathogenic	18	45395659	45395659	C	A	criteria provided, single submitter	ClinGen:CA16620692,OMIM:601366.0007
Deletion	NM_003238.6(TGFB2):c.156del (p.Pro54fs)	TGFB2	Likely pathogenic	1	218520199	218520199	GT	G	criteria provided, single submitter	ClinGen:CA645369171
single nucleotide variant	NM_005901.6(SMAD2):c.173T>A (p.Leu58Ter)	SMAD2	Pathogenic	18	45422955	45422955	A	T	criteria provided, single submitter	ClinGen:CA402502947
single nucleotide variant	NM_003239.5(TGFB3):c.1020T>A (p.Tyr340Ter)	TGFB3	Pathogenic	14	76427326	76427326	A	T	criteria provided, single submitter	ClinGen:CA390467810