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_001267550.2(TTN):c.2926T>C (p.Trp976Arg)	TTN	Likely pathogenic	2	179647707	179647707	A	G	criteria provided, single submitter	ClinGen:CA256496,UniProtKB:Q8WZ42#VAR_026689,OMIM:188840.0003
Indel	NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	TTN	Pathogenic	2	179391925	179391935	CCATGTTACTT	TTTTTCTTTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA122613,OMIM:188840.0004
single nucleotide variant	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	TTN	Likely pathogenic	2	179391848	179391848	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341209,OMIM:188840.0005
single nucleotide variant	NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	TTN	Pathogenic/Likely pathogenic	2	179391875	179391875	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341213,OMIM:188840.0006
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
Deletion	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN	Pathogenic	2	179391826	179391826	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA309464