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.942del (p.Phe314fs)	SMAD3	Pathogenic/Likely pathogenic	15	67477131	67477131	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323883
single nucleotide variant	NM_005902.4(SMAD3):c.803G>A (p.Arg268His)	SMAD3	Pathogenic/Likely pathogenic	15	67473723	67473723	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321807
single nucleotide variant	NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg)	SMAD3	Pathogenic/Likely pathogenic	15	67473653	67473653	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323714
single nucleotide variant	NM_005902.4(SMAD3):c.401-6G>A	SMAD3	Pathogenic/Likely pathogenic	15	67457585	67457585	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter)	SMAD3	Pathogenic/Likely pathogenic	15	67457303	67457303	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA062085
Indel	NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer)	SMAD3	Pathogenic/Likely pathogenic	15	67457301	67457307	GGCGATG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA320096
single nucleotide variant	NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)	TGFBR1	Pathogenic/Likely pathogenic	9	101904946	101904946	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA043448
single nucleotide variant	NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly)	TGFBR1	Pathogenic/Likely pathogenic	9	101900363	101900363	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA322019
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_003238.6(TGFB2):c.895C>T (p.Arg299Trp)	TGFB2	Pathogenic/Likely pathogenic	1	218609452	218609452	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA320073,UniProtKB:P61812#VAR_068932