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_003238.6(TGFB2):c.932G>A (p.Arg311Lys)	TGFB2	Likely pathogenic	1	218609489	218609489	G	A	criteria provided, single submitter	ClinGen:CA16617065
single nucleotide variant	NM_003238.6(TGFB2):c.905G>A (p.Arg302His)	TGFB2	Pathogenic/Likely pathogenic	1	218609462	218609462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344727314
single nucleotide variant	NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser)	TGFB2	Pathogenic/Likely pathogenic	1	218609461	218609461	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581764
single nucleotide variant	NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)	TGFB2	Pathogenic/Likely pathogenic	1	218609461	218609461	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354091
single nucleotide variant	NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)	TGFB2	Pathogenic/Likely pathogenic	1	218609453	218609453	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603488
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
Deletion	NM_003238.6(TGFB2):c.892_901del (p.Arg298fs)	TGFB2	Pathogenic	1	218609449	218609458	CCGGCGGAAGA	C	criteria provided, single submitter	ClinGen:CA658656986
Duplication	NM_003238.6(TGFB2):c.821dup (p.Asn274fs)	TGFB2	Pathogenic/Likely pathogenic	1	218609370	218609371	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA322262
Indel	NM_003238.6(TGFB2):c.755-5_755-2delinsG	TGFB2	Likely pathogenic	1	218609307	218609310	TCAA	G	criteria provided, single submitter	ClinGen:CA658795609
Insertion	NM_003238.6(TGFB2):c.644_645insT (p.Arg216fs)	TGFB2	Likely pathogenic	1	218607680	218607681	A	AT	criteria provided, single submitter	ClinGen:CA319954