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.1178G>A (p.Cys393Tyr)	TGFBR2	Pathogenic	3	30713853	30713853	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587569
single nucleotide variant	NM_003242.6(TGFBR2):c.1261A>G (p.Thr421Ala)	TGFBR2	Pathogenic	3	30715603	30715603	A	G	criteria provided, single submitter	ClinGen:CA10587570
Deletion	NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs)	TGFBR1	Pathogenic	9	101867557	101867561	GGCGGC	G	criteria provided, single submitter	ClinGen:CA10587680
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
Duplication	NM_004612.4(TGFBR1):c.1302_1303dup (p.Asp435fs)	TGFBR1	Pathogenic	9	101909981	101909982	C	CTG	criteria provided, single submitter	ClinGen:CA10587687
single nucleotide variant	NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr)	SMAD3	Likely pathogenic	15	67479847	67479847	G	C	criteria provided, single submitter	ClinGen:CA10587882
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_005902.4(SMAD3):c.228G>T (p.Gln76His)	SMAD3	Likely pathogenic	15	67457254	67457254	G	T	criteria provided, single submitter	ClinGen:CA10602646
Deletion	NM_003238.6(TGFB2):c.419del (p.Asn140fs)	TGFB2	Likely pathogenic	1	218578582	218578582	GA	G	criteria provided, single submitter	ClinGen:CA16042309
single nucleotide variant	NM_003238.6(TGFB2):c.644-2A>G	TGFB2	Likely pathogenic	1	218607678	218607678	A	G	criteria provided, single submitter	ClinGen:CA16042310