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.1069G>C (p.Ala357Pro)	DES	Pathogenic	2	220286107	220286107	G	C	criteria provided, single submitter	ClinGen:CA217007,UniProtKB:P17661#VAR_042456
single nucleotide variant	NM_001927.4(DES):c.1049G>C (p.Arg350Pro)	DES	Pathogenic	2	220286087	220286087	G	C	criteria provided, multiple submitters, no conflicts	OMIM:125660.0016,ClinGen:CA126906,UniProtKB:P17661#VAR_042454
single nucleotide variant	NM_001927.4(DES):c.1034T>C (p.Leu345Pro)	DES	Pathogenic/Likely pathogenic	2	220286072	220286072	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217003,UniProtKB:P17661#VAR_009189,OMIM:125660.0006
single nucleotide variant	NM_001927.4(DES):c.1024A>G (p.Asn342Asp)	DES	Pathogenic	2	220286062	220286062	A	G	criteria provided, single submitter	ClinGen:CA217001,UniProtKB:P17661#VAR_042453,OMIM:125660.0020
single nucleotide variant	NM_001927.4(DES):c.1013T>C (p.Leu338Pro)	DES	Likely pathogenic	2	220285665	220285665	T	C	criteria provided, single submitter	ClinGen:CA10581950
single nucleotide variant	NM_001927.4(DES):c.1013T>G (p.Leu338Arg)	DES	Pathogenic/Likely pathogenic	2	220285665	220285665	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA216999,UniProtKB:P17661#VAR_067209
single nucleotide variant	NM_001927.4(DES):c.1009G>C (p.Ala337Pro)	DES	Pathogenic	2	220285661	220285661	G	C	criteria provided, single submitter	ClinGen:CA216997,UniProtKB:P17661#VAR_007900,OMIM:125660.0001
single nucleotide variant	NM_001927.4(DES):c.735+3A>G	DES	Pathogenic	2	220285071	220285071	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA217084,OMIM:125660.0008
single nucleotide variant	NM_001927.4(DES):c.735+1G>T	DES	Pathogenic	2	220285069	220285069	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.735+1G>C	DES	Likely pathogenic	2	220285069	220285069	G	C	criteria provided, single submitter	ClinGen:CA273134