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_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)	SCN4A	Pathogenic	17	62024451	62024451	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P35499#VAR_054943,OMIM:603967.0030,ClinGen:CA263213
single nucleotide variant	NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val)	SCN4A	Pathogenic	17	62020396	62020396	T	C	criteria provided, single submitter	ClinGen:CA341671
single nucleotide variant	NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val)	SCN4A	Pathogenic/Likely pathogenic	17	62020366	62020366	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA341673
single nucleotide variant	NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)	CHRNA1	Pathogenic/Likely pathogenic	2	175614679	175614679	G	A	criteria provided, multiple submitters, no conflicts	OMIM:100690.0016
single nucleotide variant	NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)	GFPT1	Pathogenic/Likely pathogenic	2	69590695	69590695	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128605,UniProtKB:Q06210#VAR_065342,OMIM:138292.0001
single nucleotide variant	NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter)	GFPT1	Pathogenic	2	69581411	69581411	C	T	criteria provided, single submitter	OMIM:138292.0003
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.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_005984.5(SLC25A1):c.844C>G (p.Arg282Gly)	SLC25A1	Likely pathogenic	22	19163735	19163735	G	C	criteria provided, single submitter	ClinGen:CA130978,UniProtKB:P53007#VAR_069496,OMIM:190315.0001
single nucleotide variant	NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)	SLC25A1	Pathogenic/Likely pathogenic	22	19163735	19163735	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA130979,UniProtKB:P53007#VAR_069495,OMIM:190315.0002