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_001927.4(DES):c.1223del (p.Leu408fs)	DES	Likely pathogenic	2	220286261	220286261	CT	C	criteria provided, single submitter	ClinGen:CA10602840
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
Deletion	NM_001927.4(DES):c.1213del (p.Tyr405fs)	DES	Pathogenic	2	220286251	220286251	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605083
single nucleotide variant	NM_001927.4(DES):c.1201G>A (p.Glu401Lys)	DES	Likely pathogenic	2	220286239	220286239	G	A	criteria provided, single submitter	ClinGen:CA284671,UniProtKB:P17661#VAR_067211
single nucleotide variant	NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)	DES	Likely pathogenic	2	220286233	220286233	G	T	criteria provided, single submitter	ClinGen:CA217032,UniProtKB:P17661#VAR_067210
single nucleotide variant	NM_001927.4(DES):c.1151A>G (p.His384Arg)	DES	Likely pathogenic	2	220286189	220286189	A	G	criteria provided, single submitter	ClinGen:CA350694607
Deletion	NM_001927.4(DES):c.1132_1153del (p.Lys378fs)	DES	Pathogenic	2	220286168	220286189	CTCAAGGATGAGATGGCCCGCCA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.1109T>C (p.Leu370Pro)	DES	Pathogenic	2	220286147	220286147	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217018,UniProtKB:P17661#VAR_042457
Deletion	NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del)	DES	Pathogenic	2	220286107	220286115	TGCCAGTGAG	T	criteria provided, single submitter	ClinGen:CA217009,OMIM:125660.0012
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