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.59352del (p.Glu19785fs)	TTN	Likely pathogenic	2	179457380	179457380	CA	C	criteria provided, single submitter	ClinGen:CA353352
Duplication	NM_001267550.2(TTN):c.59411dup (p.Arg19805fs)	TTN	Likely pathogenic	2	179457320	179457321	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA352445
single nucleotide variant	NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)	TTN	Pathogenic/Likely pathogenic	2	179454957	179454957	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353283
single nucleotide variant	NM_001267550.2(TTN):c.65476G>T (p.Glu21826Ter)	TTN	Likely pathogenic	2	179448433	179448433	C	A	criteria provided, single submitter	ClinGen:CA123887
Deletion	NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs)	TTN	Likely pathogenic	2	179441479	179441480	CCA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353093
single nucleotide variant	NM_001267550.2(TTN):c.69877G>T (p.Gly23293Ter)	TTN	Likely pathogenic	2	179440982	179440982	C	A	criteria provided, single submitter	ClinGen:CA353289
single nucleotide variant	NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter)	TTN	Likely pathogenic	2	179437750	179437750	C	T	criteria provided, single submitter	ClinGen:CA353396
Duplication	NM_001267550.2(TTN):c.74880_74883dup (p.Pro24962fs)	TTN	Likely pathogenic	2	179435975	179435976	G	GTGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA353153
single nucleotide variant	NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter)	TTN	Pathogenic/Likely pathogenic	2	179431868	179431868	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA090197
single nucleotide variant	NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter)	TTN	Pathogenic/Likely pathogenic	2	179427344	179427344	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353024