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_024301.5(FKRP):c.160C>T (p.Arg54Trp)	FKRP	Pathogenic/Likely pathogenic	19	47258867	47258867	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116714,UniProtKB:Q9H9S5#VAR_019272,OMIM:606596.0011
single nucleotide variant	NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	FKRP	Pathogenic/Likely pathogenic	19	47259606	47259606	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA116722,UniProtKB:Q9H9S5#VAR_065060,OMIM:606596.0015
single nucleotide variant	NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)	FKRP	Pathogenic/Likely pathogenic	19	47259626	47259626	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116724,UniProtKB:Q9H9S5#VAR_022850,OMIM:606596.0016
single nucleotide variant	NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	FKRP	Pathogenic/Likely pathogenic	19	47260094	47260094	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA116728,UniProtKB:Q9H9S5#VAR_065063,OMIM:606596.0018
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_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.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
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.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
single nucleotide variant	NM_000117.3(EMD):c.1A>G (p.Met1Val)	EMD	Pathogenic	X	153607845	153607845	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA121381,OMIM:300384.0002