エメリー・ドレイフス型筋ジストロフィー

小児・神経疾患

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_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)	SYNE1	Pathogenic	6	152473185	152473185	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)	SYNE1	Pathogenic	6	152751793	152751793	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)	SYNE1	Pathogenic	6	152831358	152831358	A	T	criteria provided, single submitter	-
Duplication	NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)	FHL1	Likely pathogenic	X	135290733	135290734	T	TTA	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156114919)_(156243162_?)del	LMNA	Pathogenic	1	156084710	156212953	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156134393)_(156134538_?)del	LMNA	Likely pathogenic	1	156104184	156104329	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156114909)_(156115284_?)del	LMNA	Pathogenic	1	156084700	156085075	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156134393)_(156139116_?)del	LMNA	Pathogenic	1	156104184	156108907	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156134383)_(156134548_?)del	LMNA	Likely pathogenic	1	156104174	156104339	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.640-2A>G	LMNA	Likely pathogenic	1	156104594	156104594	A	G	criteria provided, single submitter	-