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.1120C>T (p.Pro374Ser)	TGFBR2	Likely pathogenic	3	30713795	30713795	C	T	criteria provided, single submitter	ClinGen:CA320627
single nucleotide variant	NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu)	TGFBR2	Likely pathogenic	3	30715597	30715597	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322630
single nucleotide variant	NM_003242.6(TGFBR2):c.1256T>A (p.Val419Glu)	TGFBR2	Likely pathogenic	3	30715598	30715598	T	A	criteria provided, single submitter	ClinGen:CA324927
single nucleotide variant	NM_003242.6(TGFBR2):c.1276G>A (p.Ala426Thr)	TGFBR2	Pathogenic	3	30715618	30715618	G	A	criteria provided, single submitter	ClinGen:CA321583
single nucleotide variant	NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp)	TGFBR2	Pathogenic	3	30715619	30715619	C	A	criteria provided, single submitter	ClinGen:CA323900
single nucleotide variant	NM_003242.6(TGFBR2):c.1279C>T (p.Pro427Ser)	TGFBR2	Likely pathogenic	3	30715621	30715621	C	T	criteria provided, single submitter	ClinGen:CA319801
single nucleotide variant	NM_003242.6(TGFBR2):c.1338T>G (p.Asp446Glu)	TGFBR2	Likely pathogenic	3	30715680	30715680	T	G	criteria provided, single submitter	ClinGen:CA321430
single nucleotide variant	NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)	TGFBR2	Pathogenic/Likely pathogenic	3	30729968	30729968	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA323609,OMIM:190182.0020
single nucleotide variant	NM_004612.4(TGFBR1):c.696G>C (p.Lys232Asn)	TGFBR1	Likely pathogenic	9	101900262	101900262	G	C	criteria provided, single submitter	ClinGen:CA325117
single nucleotide variant	NM_004612.4(TGFBR1):c.724T>C (p.Trp242Arg)	TGFBR1	Likely pathogenic	9	101900290	101900290	T	C	criteria provided, single submitter	ClinGen:CA324960