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_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	POMGNT1	Pathogenic/Likely pathogenic	1	46659545	46659545	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA211242,UniProtKB:Q8WZA1#VAR_023104,OMIM:606822.0008
single nucleotide variant	NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)	POMGNT1	Pathogenic	1	46662690	46662690	G	A	criteria provided, single submitter	ClinGen:CA116550,OMIM:606822.0009,OMIM:606822.0019
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
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.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_024301.5(FKRP):c.1154C>A (p.Ser385Ter)	FKRP	Pathogenic	19	47259861	47259861	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116697,OMIM:606596.0002
single nucleotide variant	NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)	FKRP	Pathogenic/Likely pathogenic	19	47260050	47260050	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116699,UniProtKB:Q9H9S5#VAR_018294,OMIM:606596.0003
single nucleotide variant	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP	Pathogenic/Likely pathogenic	19	47259533	47259533	C	A	criteria provided, multiple submitters, no conflicts	UniProtKB:Q9H9S5#VAR_018285,OMIM:606596.0004,ClinGen:CA116701,ClinVar:224674
single nucleotide variant	NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)	FKRP	Pathogenic/Likely pathogenic	19	47260193	47260193	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116704,OMIM:606596.0006
single nucleotide variant	NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)	FKRP	Pathogenic	19	47260071	47260071	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116710,UniProtKB:Q9H9S5#VAR_022855,OMIM:606596.0009