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_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_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_005902.4(SMAD3):c.364G>A (p.Val122Met)	SMAD3	Likely pathogenic	15	67457390	67457390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020081
single nucleotide variant	NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)	TGFBR2	Likely pathogenic	3	30715724	30715724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020670
Deletion	NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del)	TGFBR2	Likely pathogenic	3	30732933	30732944	GTGAGACGTTGAC	G	criteria provided, single submitter	ClinGen:CA10575669
Insertion	NM_003238.6(TGFB2):c.644_645insT (p.Arg216fs)	TGFB2	Likely pathogenic	1	218607680	218607681	A	AT	criteria provided, single submitter	ClinGen:CA319954
single nucleotide variant	NM_003238.6(TGFB2):c.953G>T (p.Cys318Phe)	TGFB2	Likely pathogenic	1	218610705	218610705	G	T	criteria provided, single submitter	ClinGen:CA322411
single nucleotide variant	NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln)	TGFBR2	Likely pathogenic	3	30713673	30713673	T	A	criteria provided, single submitter	ClinGen:CA324102
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