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
single nucleotide variant	NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43	Pathogenic	3	14183165	14183165	C	T	criteria provided, multiple submitters, no conflicts	OMIM:612048.0001,ClinGen:CA024568,UniProtKB:Q9BTV4#VAR_044438
single nucleotide variant	NM_182914.3(SYNE2):c.4397G>A (p.Arg1466Gln)	SYNE2	Likely pathogenic	14	64470048	64470048	G	A	criteria provided, single submitter	ClinGen:CA16621659
single nucleotide variant	NM_182961.4(SYNE1):c.16390-2A>G	SYNE1	Pathogenic/Likely pathogenic	6	152639400	152639400	T	C	criteria provided, multiple submitters, no conflicts	OMIM:608441.0001
Deletion	NM_182961.4(SYNE1):c.4975_4976+8del	SYNE1	Pathogenic	6	152749332	152749341	GCTGCTCACCT	G	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.10608+1G>C	SYNE1	Likely pathogenic	6	152679507	152679507	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.19260+2T>C	SYNE1	Likely pathogenic	6	152576724	152576724	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)	SYNE1	Pathogenic	6	152831358	152831358	A	T	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.24221C>G (p.Ser8074Ter)	SYNE1	Pathogenic	6	152473185	152473185	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.23461-1G>A	SYNE1	Pathogenic	6	152497696	152497696	C	T	criteria provided, single submitter	-