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.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.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.1216C>T (p.Arg406Trp)	DES	Pathogenic/Likely pathogenic	2	220286254	220286254	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257646,UniProtKB:P17661#VAR_042458,OMIM:125660.0007
single nucleotide variant	NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	DES	Pathogenic	2	220290421	220290421	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217036,UniProtKB:P17661#VAR_042459,OMIM:125660.0015
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_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)	FLNC	Pathogenic	7	128498529	128498529	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA258151,OMIM:102565.0001
single nucleotide variant	NM_001458.5(FLNC):c.752T>C (p.Met251Thr)	FLNC	Likely pathogenic	7	128477504	128477504	T	C	criteria provided, single submitter	ClinGen:CA128477,UniProtKB:Q14315#VAR_066213,OMIM:102565.0003
single nucleotide variant	NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	BAG3	Pathogenic/Likely pathogenic	10	121429549	121429549	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259790,OMIM:603883.0004
single nucleotide variant	NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu)	DNAJB6	Pathogenic	7	157160108	157160108	T	C	criteria provided, single submitter	ClinGen:CA259939,UniProtKB:O75190#VAR_067834,OMIM:611332.0001
single nucleotide variant	NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg)	DNAJB6	Pathogenic	7	157160118	157160118	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259941,UniProtKB:O75190#VAR_067835,OMIM:611332.0002