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
Duplication	NM_003238.6(TGFB2):c.294_297dup (p.Ala100fs)	TGFB2	Likely pathogenic	1	218520336	218520337	A	ACTAC	criteria provided, single submitter	-
single nucleotide variant	NM_003239.5(TGFB3):c.514C>T (p.Gln172Ter)	TGFB3	Likely pathogenic	14	76437900	76437900	G	A	criteria provided, single submitter	-
Deletion	NM_005902.4(SMAD3):c.398del (p.Pro133fs)	SMAD3	Likely pathogenic	15	67457423	67457423	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_003238.6(TGFB2):c.346+1G>C	TGFB2	Likely pathogenic	1	218520390	218520390	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_003238.6(TGFB2):c.1086+1G>A	TGFB2	Likely pathogenic	1	218610839	218610839	G	A	criteria provided, single submitter	-
Indel	NM_003238.6(TGFB2):c.238_239delinsAAG (p.Glu80fs)	TGFB2	Pathogenic	1	218520281	218520282	GA	AAG	criteria provided, single submitter	-
Duplication	NM_003238.6(TGFB2):c.990dup (p.Gly331fs)	TGFB2	Pathogenic	1	218610741	218610742	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg)	TGFBR2	Likely pathogenic	3	30729989	30729989	T	C	criteria provided, single submitter	-
Deletion	NM_005902.4(SMAD3):c.517del (p.Gln173fs)	SMAD3	Pathogenic	15	67457704	67457704	GC	G	criteria provided, single submitter	-
Deletion	NM_005902.4(SMAD3):c.904del (p.Glu302fs)	SMAD3	Pathogenic	15	67477094	67477094	AG	A	criteria provided, single submitter	-