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_001267550.2(TTN):c.90587del (p.Lys30196fs)	TTN	Pathogenic/Likely pathogenic	2	179417040	179417040	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261915
Duplication	NM_003319.4(TTN):c.63583dup (p.Tyr21195fs)	TTN	Likely pathogenic	2	179416848	179416849	T	TA	criteria provided, single submitter	ClinGen:CA261916
Deletion	NM_001267550.2(TTN):c.93897del (p.Phe31299fs)	TTN	Pathogenic/Likely pathogenic	2	179412456	179412456	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261917
Deletion	NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	TTN	Pathogenic/Likely pathogenic	2	179404492	179404493	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA141479
single nucleotide variant	NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter)	TTN	Likely pathogenic	2	179398393	179398393	G	A	criteria provided, single submitter	ClinGen:CA261918
single nucleotide variant	NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter)	TTN	Likely pathogenic	2	179605752	179605752	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261922
single nucleotide variant	NM_001927.4(DES):c.1289-2A>G	DES	Pathogenic/Likely pathogenic	2	220290383	220290383	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA144512,OMIM:125660.0018
single nucleotide variant	NM_001927.4(DES):c.1013T>G (p.Leu338Arg)	DES	Pathogenic/Likely pathogenic	2	220285665	220285665	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA216999,UniProtKB:P17661#VAR_067209
single nucleotide variant	NM_001927.4(DES):c.1024A>G (p.Asn342Asp)	DES	Pathogenic	2	220286062	220286062	A	G	criteria provided, single submitter	ClinGen:CA217001,UniProtKB:P17661#VAR_042453,OMIM:125660.0020
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