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.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.1109T>C (p.Leu370Pro)	DES	Pathogenic	2	220286147	220286147	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217018,UniProtKB:P17661#VAR_042457
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.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.1237G>A (p.Glu413Lys)	DES	Pathogenic/Likely pathogenic	2	220286275	220286275	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA284673
single nucleotide variant	NM_001927.4(DES):c.1346A>C (p.Lys449Thr)	DES	Pathogenic/Likely pathogenic	2	220290442	220290442	A	C	criteria provided, multiple submitters, no conflicts	UniProtKB:P17661#VAR_042461,ClinGen:CA217038
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.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
single nucleotide variant	NM_001927.4(DES):c.35C>T (p.Ser12Phe)	DES	Pathogenic/Likely pathogenic	2	220283219	220283219	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217069
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