ロイス・ディーツ症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.758T>C (p.Met253Thr)	TGFBR1	Likely pathogenic	9	101900324	101900324	T	C	criteria provided, single submitter	ClinGen:CA321603
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_004612.4(TGFBR1):c.820A>G (p.Thr274Ala)	TGFBR1	Likely pathogenic	9	101904832	101904832	A	G	criteria provided, single submitter	ClinGen:CA323920
single nucleotide variant	NM_004612.4(TGFBR1):c.824A>G (p.Gln275Arg)	TGFBR1	Likely pathogenic	9	101904836	101904836	A	G	criteria provided, single submitter	ClinGen:CA319831
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.1052A>C (p.Asp351Ala)	TGFBR1	Likely pathogenic	9	101907092	101907092	A	C	criteria provided, single submitter	ClinGen:CA322591
single nucleotide variant	NM_004612.4(TGFBR1):c.1420T>C (p.Cys474Arg)	TGFBR1	Likely pathogenic	9	101911495	101911495	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA323032
single nucleotide variant	NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)	SMAD3	Pathogenic	15	67358574	67358574	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA323266
single nucleotide variant	NM_005902.4(SMAD3):c.154G>T (p.Glu52Ter)	SMAD3	Pathogenic	15	67358646	67358646	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325173
Duplication	NM_005902.4(SMAD3):c.263dup (p.Tyr88Ter)	SMAD3	Pathogenic	15	67457288	67457289	T	TA	criteria provided, single submitter	ClinGen:CA322123