筋ジストロフィー

小児・神経疾患

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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_000426.4(LAMA2):c.7181del (p.Thr2394fs)	LAMA2	Pathogenic	6	129786315	129786315	AC	A	criteria provided, single submitter	-
Duplication	NM_000426.4(LAMA2):c.8581_8584dup (p.Tyr2862fs)	LAMA2	Pathogenic	6	129826375	129826376	A	ATTCT	criteria provided, single submitter	-
Duplication	NM_000426.4(LAMA2):c.8769dup (p.Gln2924fs)	LAMA2	Pathogenic	6	129828697	129828698	G	GA	criteria provided, single submitter	-
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	-
Deletion	NM_001079802.2(FKTN):c.432del (p.Arg146fs)	FKTN	Pathogenic	9	108366558	108366558	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter)	FKTN	Pathogenic	9	108377646	108377646	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)	FKTN	Pathogenic	9	108382323	108382323	A	T	criteria provided, single submitter	-
Deletion	NM_001077365.2(POMT1):c.606del (p.Ile203fs)	POMT1	Pathogenic	9	134385290	134385290	GC	G	criteria provided, single submitter	-