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
Deletion	NM_001289808.2(CRYAB):c.343del (p.Ser115fs)	CRYAB	Pathogenic/Likely pathogenic	11	111779673	111779673	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA308250
single nucleotide variant	NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)	CRYAB	Likely pathogenic	11	111782283	111782283	G	A	criteria provided, single submitter	ClinGen:CA130927,OMIM:123590.0010
single nucleotide variant	NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu)	CRYAB	Pathogenic	11	111781055	111781055	C	A	criteria provided, single submitter	ClinGen:CA250008
single nucleotide variant	NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)	CRYAB	Likely pathogenic	11	111779690	111779690	T	C	criteria provided, single submitter	ClinGen:CA382596838
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_001927.4(DES):c.1255C>T (p.Pro419Ser)	DES	Pathogenic/Likely pathogenic	2	220288509	220288509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017