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_013382.7(POMT2):c.2242T>C (p.Trp748Arg)	POMT2	Likely pathogenic	14	77743730	77743730	A	G	criteria provided, single submitter	ClinGen:CA116100,UniProtKB:Q9UKY4#VAR_065048,OMIM:607439.0006
single nucleotide variant	NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	POMT2	Likely pathogenic	14	77762566	77762566	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA130176,UniProtKB:Q9UKY4#VAR_065040,OMIM:607439.0012,OMIM:607439.0014
single nucleotide variant	NM_017739.4(POMGNT1):c.1413+1G>T	POMGNT1	Likely pathogenic	1	46657979	46657979	C	A	criteria provided, single submitter	ClinGen:CA116538,OMIM:606822.0001
single nucleotide variant	NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	POMGNT1	Likely pathogenic	1	46656145	46656145	C	T	criteria provided, single submitter	ClinGen:CA116540,UniProtKB:Q8WZA1#VAR_023109,OMIM:606822.0003
single nucleotide variant	NM_017739.4(POMGNT1):c.652+1G>A	POMGNT1	Likely pathogenic	1	46660515	46660515	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116563,OMIM:606822.0015
single nucleotide variant	NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser)	SELENON	Likely pathogenic	1	26139254	26139254	G	C	criteria provided, single submitter	ClinGen:CA253171,UniProtKB:Q9NZV5#VAR_019639,OMIM:606210.0005
single nucleotide variant	NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)	FHL1	Likely pathogenic	X	135290076	135290076	T	C	criteria provided, single submitter	ClinGen:CA121548,UniProtKB:Q13642#VAR_046001,OMIM:300163.0006
single nucleotide variant	NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)	LAMA2	Likely pathogenic	6	129837376	129837376	C	T	criteria provided, single submitter	ClinGen:CA257204,OMIM:156225.0005,ClinVar:424826
single nucleotide variant	NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	LMNA	Likely pathogenic	1	156100449	156100449	G	C	criteria provided, single submitter	ClinGen:CA018038,UniProtKB:P02545#VAR_017657,OMIM:150330.0032
single nucleotide variant	NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	LMNA	Likely pathogenic	1	156104733	156104733	T	A	criteria provided, single submitter	ClinGen:CA018615,OMIM:150330.0035