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.56647+1G>A	TTN	Likely pathogenic	2	179463872	179463872	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261880
Duplication	NM_001256850.1(TTN):c.51809dup (p.Asp17270fs)	TTN	Likely pathogenic	2	179463704	179463705	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA261881
Deletion	NM_001267550.2(TTN):c.57215del (p.Gly19072fs)	TTN	Likely pathogenic	2	179462682	179462682	TC	T	criteria provided, single submitter	ClinGen:CA261882
Deletion	NM_001267550.2(TTN):c.57995del (p.His19332fs)	TTN	Likely pathogenic	2	179459226	179459226	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261889
Duplication	NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs)	TTN	Likely pathogenic	2	179441509	179441510	G	GTTCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA261900
single nucleotide variant	NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)	TTN	Likely pathogenic	2	179429327	179429327	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261909
Duplication	NM_003319.4(TTN):c.63583dup (p.Tyr21195fs)	TTN	Likely pathogenic	2	179416848	179416849	T	TA	criteria provided, single submitter	ClinGen:CA261916
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.1195G>T (p.Asp399Tyr)	DES	Likely pathogenic	2	220286233	220286233	G	T	criteria provided, single submitter	ClinGen:CA217032,UniProtKB:P17661#VAR_067210