筋原線維性ミオパチー

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_001927.4(DES):c.735G>C (p.Glu245Asp)	DES	Pathogenic/Likely pathogenic	2	220285068	220285068	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217085,UniProtKB:P17661#VAR_042452
single nucleotide variant	NM_001927.4(DES):c.634C>T (p.Arg212Ter)	DES	Pathogenic/Likely pathogenic	2	220284872	220284872	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA308316
single nucleotide variant	NM_001927.4(DES):c.514C>T (p.Gln172Ter)	DES	Pathogenic	2	220283698	220283698	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.394C>T (p.Gln132Ter)	DES	Pathogenic	2	220283578	220283578	C	T	criteria provided, single submitter	ClinGen:CA16610670
single nucleotide variant	NM_001927.4(DES):c.373A>T (p.Lys125Ter)	DES	Pathogenic	2	220283557	220283557	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604977
single nucleotide variant	NM_001927.4(DES):c.364T>G (p.Tyr122Asp)	DES	Likely pathogenic	2	220283548	220283548	T	G	criteria provided, single submitter	ClinGen:CA308313
single nucleotide variant	NM_001927.4(DES):c.347A>G (p.Asn116Ser)	DES	Pathogenic/Likely pathogenic	2	220283531	220283531	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA217067,UniProtKB:P17661#VAR_069191
Deletion	NM_001927.4(DES):c.226del (p.Thr76fs)	DES	Pathogenic	2	220283410	220283410	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001927.4(DES):c.137C>A (p.Ser46Tyr)	DES	Likely pathogenic	2	220283321	220283321	C	A	criteria provided, single submitter	ClinGen:CA217053,UniProtKB:P17661#VAR_042450
single nucleotide variant	NM_001927.4(DES):c.130G>A (p.Gly44Ser)	DES	Likely pathogenic	2	220283314	220283314	G	A	criteria provided, single submitter	ClinGen:CA16617477