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_004612.4(TGFBR1):c.1303G>C (p.Asp435His)	TGFBR1	Likely pathogenic	9	101909983	101909983	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_003238.6(TGFB2):c.346+1G>T	TGFB2	Likely pathogenic	1	218520390	218520390	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000009.12:g.(?_99105186)_(99221914_?)del	TGFBR1	Pathogenic	9	101867468	101984196	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_99137839)_(99138109_?)del	TGFBR1	Likely pathogenic	9	101900121	101900391	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_67181221)_(67181473_?)del	SMAD3	Pathogenic	15	67473559	67473811	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003239.5(TGFB3):c.517-1G>C	TGFB3	Likely pathogenic	14	76437599	76437599	C	G	criteria provided, single submitter	-
Deletion	NM_005902.4(SMAD3):c.851_864del (p.Glu284fs)	SMAD3	Pathogenic	15	67473771	67473784	GAGCTGACACGGAGA	G	criteria provided, single submitter	-
Indel	NM_005902.4(SMAD3):c.960_972delinsGACACC (p.Cys320fs)	SMAD3	Pathogenic	15	67477153	67477165	TAACCAGCGCTAT	GACACC	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.1009G>T (p.Gly337Ter)	SMAD3	Pathogenic	15	67477202	67477202	G	T	criteria provided, single submitter	-
Duplication	NM_005902.4(SMAD3):c.1153dup (p.Arg385fs)	SMAD3	Pathogenic	15	67479845	67479846	C	CA	criteria provided, single submitter	-