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_005902.4(SMAD3):c.539del (p.Pro180fs)	SMAD3	Pathogenic	15	67459120	67459120	AC	A	criteria provided, single submitter	ClinGen:CA645509194
single nucleotide variant	NM_003238.6(TGFB2):c.905G>A (p.Arg302His)	TGFB2	Pathogenic/Likely pathogenic	1	218609462	218609462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344727314
Duplication	NM_003239.5(TGFB3):c.321dup (p.Phe108fs)	TGFB3	Pathogenic	14	76446915	76446916	A	AT	criteria provided, single submitter	ClinGen:CA658653821
single nucleotide variant	NM_003238.6(TGFB2):c.346+1G>A	TGFB2	Likely pathogenic	1	218520390	218520390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344725835
single nucleotide variant	NM_003238.6(TGFB2):c.932+1G>A	TGFB2	Pathogenic	1	218609490	218609490	G	A	criteria provided, single submitter	ClinGen:CA344727376
single nucleotide variant	NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter)	TGFB3	Likely pathogenic	14	76425574	76425574	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390466754
Duplication	NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs)	TGFB3	Likely pathogenic	14	76429691	76429692	C	CTTCCTCTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656426
single nucleotide variant	NM_005902.4(SMAD3):c.5C>A (p.Ser2Ter)	SMAD3	Pathogenic/Likely pathogenic	15	67358497	67358497	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA393202677
Deletion	NM_003238.6(TGFB2):c.892_901del (p.Arg298fs)	TGFB2	Pathogenic	1	218609449	218609458	CCGGCGGAAGA	C	criteria provided, single submitter	ClinGen:CA658656986
single nucleotide variant	NM_003242.6(TGFBR2):c.1006T>G (p.Tyr336Asp)	TGFBR2	Pathogenic	3	30713681	30713681	T	G	criteria provided, single submitter	ClinGen:CA351808352