先天性筋無力症候群

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_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)	CHRNA1	Pathogenic/Likely pathogenic	2	175612905	175612905	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1974303
single nucleotide variant	NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)	DPAGT1	Pathogenic/Likely pathogenic	11	118972365	118972365	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606252
Duplication	NM_001382.4(DPAGT1):c.26dup (p.Met9fs)	DPAGT1	Pathogenic	11	118972339	118972340	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)	DPAGT1	Pathogenic/Likely pathogenic	11	118972281	118972281	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA264783,OMIM:191350.0010
single nucleotide variant	NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)	DPAGT1	Pathogenic/Likely pathogenic	11	118971512	118971512	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA129972,UniProtKB:Q9H3H5#VAR_068810,OMIM:191350.0003
single nucleotide variant	NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)	DPAGT1	Likely pathogenic	11	118971487	118971487	C	T	criteria provided, single submitter	ClinGen:CA129971,UniProtKB:Q9H3H5#VAR_068811,OMIM:191350.0002
single nucleotide variant	NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)	DPAGT1	Pathogenic	11	118971476	118971476	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001382.4(DPAGT1):c.362G>A (p.Arg121His)	DPAGT1	Likely pathogenic	11	118971474	118971474	C	T	criteria provided, single submitter	ClinGen:CA382915184
Duplication	NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)	DPAGT1	Pathogenic	11	118971440	118971441	G	GGCAGCTGTAGGTAGCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA477369991
single nucleotide variant	NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)	DPAGT1	Pathogenic	11	118971438	118971438	G	C	criteria provided, single submitter	-