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_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
single nucleotide variant	NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg)	TGFBR2	Pathogenic/Likely pathogenic	3	30713534	30713534	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020788
single nucleotide variant	NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)	TGFBR2	Pathogenic	3	30713742	30713742	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020594
single nucleotide variant	NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter)	TGFB2	Pathogenic/Likely pathogenic	1	218607457	218607457	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346685
single nucleotide variant	NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30732957	30732957	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020712
single nucleotide variant	NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)	TGFBR1	Pathogenic	9	101911519	101911519	A	G	criteria provided, single submitter	ClinGen:CA008762
single nucleotide variant	NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)	SMAD3	Pathogenic/Likely pathogenic	15	67473780	67473780	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020135
single nucleotide variant	NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)	SMAD3	Pathogenic/Likely pathogenic	15	67473722	67473722	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020119