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_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)	TGFBR1	Pathogenic	9	101911535	101911535	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008776,UniProtKB:P36897#VAR_029484,OMIM:190181.0006
single nucleotide variant	NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)	TGFBR1	Pathogenic/Likely pathogenic	9	101911534	101911534	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008768,UniProtKB:P36897#VAR_029485,OMIM:190181.0007
single nucleotide variant	NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter)	TGFBR1	Pathogenic	9	101908876	101908876	C	T	criteria provided, single submitter	ClinGen:CA008738,OMIM:190181.0012
single nucleotide variant	NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)	SMAD3	Pathogenic	15	67473779	67473779	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020130,UniProtKB:P84022#VAR_065579,OMIM:603109.0001
Deletion	NM_005902.4(SMAD3):c.653del (p.Asn218fs)	SMAD3	Pathogenic	15	67462936	67462936	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020097,OMIM:603109.0004
single nucleotide variant	NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)	SMAD3	Likely pathogenic	15	67473635	67473635	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P84022#VAR_067047,OMIM:603109.0006,ClinGen:CA020100
single nucleotide variant	NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)	TGFBR2	Likely pathogenic	3	30732927	30732927	T	C	criteria provided, single submitter	ClinGen:CA020708,UniProtKB:P37173#VAR_066730
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
single nucleotide variant	NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)	TGFBR2	Likely pathogenic	3	30729974	30729974	G	T	criteria provided, single submitter	ClinGen:CA020693
single nucleotide variant	NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln)	TGFB3	Pathogenic	14	76429686	76429686	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA170541,OMIM:190230.0004