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_003238.6(TGFB2):c.953G>T (p.Cys318Phe)	TGFB2	Likely pathogenic	1	218610705	218610705	G	T	criteria provided, single submitter	ClinGen:CA322411
single nucleotide variant	NM_003238.6(TGFB2):c.932+1G>A	TGFB2	Pathogenic	1	218609490	218609490	G	A	criteria provided, single submitter	ClinGen:CA344727376
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
Deletion	NM_003238.6(TGFB2):c.892_901del (p.Arg298fs)	TGFB2	Pathogenic	1	218609449	218609458	CCGGCGGAAGA	C	criteria provided, single submitter	ClinGen:CA658656986
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
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