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
Deletion	NM_003238.6(TGFB2):c.229_245del (p.Leu77fs)	TGFB2	Pathogenic	1	218520271	218520287	ACTTGCTCCAGGAGAAGG	A	criteria provided, single submitter	ClinGen:CA658795600
single nucleotide variant	NM_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg)	TGFBR2	Likely pathogenic	3	30713726	30713726	G	C	criteria provided, single submitter	ClinGen:CA351808443
Duplication	NM_005901.6(SMAD2):c.773dup (p.Asn258fs)	SMAD2	Pathogenic	18	45377655	45377656	A	AT	criteria provided, single submitter	ClinGen:CA658799051
Indel	NM_003238.6(TGFB2):c.755-5_755-2delinsG	TGFB2	Likely pathogenic	1	218609307	218609310	TCAA	G	criteria provided, single submitter	ClinGen:CA658795609
single nucleotide variant	NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu)	TGFBR2	Pathogenic	3	30715721	30715721	G	T	criteria provided, single submitter	ClinGen:CA351809138
single nucleotide variant	NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg)	TGFBR2	Pathogenic	3	30713805	30713805	A	G	criteria provided, single submitter	ClinGen:CA351808600
Deletion	NM_003239.5(TGFB3):c.916del (p.Tyr306fs)	TGFB3	Likely pathogenic	14	76429669	76429669	TA	T	criteria provided, single submitter	ClinGen:CA658798232
Duplication	NC_000015.9:g.(?_67457213)_(67462962_?)dup	SMAD3	Likely pathogenic	15	67457213	67462962	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.872G>T (p.Gly291Val)	SMAD3	Likely pathogenic	15	67477065	67477065	G	T	criteria provided, single submitter	ClinGen:CA392956636
single nucleotide variant	NM_003238.6(TGFB2):c.547C>T (p.Arg183Cys)	TGFB2	Likely pathogenic	1	218607460	218607460	C	T	criteria provided, single submitter	-