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_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	LMNA	Pathogenic/Likely pathogenic	1	156106204	156106204	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017033,UniProtKB:P02545#VAR_009988,OMIM:150330.0002
single nucleotide variant	NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)	LMNA	Pathogenic	1	156084725	156084725	C	T	criteria provided, single submitter	ClinGen:CA017675,OMIM:150330.0001
single nucleotide variant	NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	SELENON	Pathogenic/Likely pathogenic	1	26136244	26136244	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223589,UniProtKB:Q9NZV5#VAR_019637,OMIM:606210.0008
Duplication	NM_020451.3(SELENON):c.713dup (p.Asn238fs)	SELENON	Pathogenic	1	26135244	26135245	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA253172,OMIM:606210.0006
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_020451.3(SELENON):c.1397G>A (p.Arg466Gln)	SELENON	Pathogenic/Likely pathogenic	1	26140381	26140381	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253170,UniProtKB:Q9NZV5#VAR_019641,OMIM:606210.0004
single nucleotide variant	NM_020451.3(SELENON):c.1A>G (p.Met1Val)	SELENON	Pathogenic/Likely pathogenic	1	26126722	26126722	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253168,OMIM:606210.0003
single nucleotide variant	NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	POMGNT1	Pathogenic/Likely pathogenic	1	46657840	46657840	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116564,UniProtKB:Q8WZA1#VAR_023107,OMIM:606822.0016
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_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	POMGNT1	Pathogenic/Likely pathogenic	1	46655211	46655211	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA116560,UniProtKB:Q8WZA1#VAR_065026,OMIM:606822.0014