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.821T>C (p.Leu274Pro)	SMAD3	Likely pathogenic	15	67473741	67473741	T	C	criteria provided, single submitter	ClinGen:CA323399
single nucleotide variant	NM_005902.4(SMAD3):c.871+2T>C	SMAD3	Pathogenic	15	67473793	67473793	T	C	criteria provided, single submitter	ClinGen:CA320562
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
Duplication	NM_005902.4(SMAD3):c.990dup (p.Val331fs)	SMAD3	Pathogenic	15	67477181	67477182	A	AC	criteria provided, single submitter	ClinGen:CA322583
single nucleotide variant	NM_005902.4(SMAD3):c.1222G>C (p.Asp408His)	SMAD3	Likely pathogenic	15	67482818	67482818	G	C	criteria provided, single submitter	ClinGen:CA322624
single nucleotide variant	NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)	TGFBR2	Pathogenic/Likely pathogenic	3	30729887	30729887	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA321611
Duplication	NM_003238.6(TGFB2):c.370dup (p.Arg124fs)	TGFB2	Likely pathogenic	1	218578533	218578534	C	CA	criteria provided, single submitter	ClinGen:CA351821
single nucleotide variant	NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter)	TGFB2	Pathogenic/Likely pathogenic	1	218578555	218578555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351959
single nucleotide variant	NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)	TGFBR2	Likely pathogenic	3	30713727	30713727	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351866
single nucleotide variant	NM_003238.6(TGFB2):c.297C>A (p.Tyr99Ter)	TGFB2	Pathogenic	1	218520340	218520340	C	A	criteria provided, single submitter	ClinGen:CA353619