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.60447T>G (p.Tyr20149Ter)	TTN	Likely pathogenic	2	179456005	179456005	A	C	criteria provided, single submitter	ClinGen:CA349484513
Deletion	NM_001267550.2(TTN):c.56598del (p.Ile18867fs)	TTN	Likely pathogenic	2	179463922	179463922	TG	T	criteria provided, single submitter	ClinGen:CA658657155
single nucleotide variant	NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)	TTN	Pathogenic/Likely pathogenic	2	179458065	179458065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349501189
Deletion	NM_001267550.2(TTN):c.57111_57111+9del	TTN	Likely pathogenic	2	179463224	179463233	GTTTTCCTACC	G	criteria provided, single submitter	ClinGen:CA658657153
Deletion	NM_001267550.2(TTN):c.53259del (p.Lys17753fs)	TTN	Likely pathogenic	2	179472156	179472156	AT	A	criteria provided, single submitter	ClinGen:CA658657162
single nucleotide variant	NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter)	TTN	Likely pathogenic	2	179465659	179465659	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1993353
Deletion	NM_001267550.2(TTN):c.55156_55165del (p.Asp18386fs)	TTN	Likely pathogenic	2	179466833	179466842	ACCAGACAGTC	A	criteria provided, single submitter	ClinGen:CA658657145
single nucleotide variant	NM_001267550.2(TTN):c.54812-1G>T	TTN	Likely pathogenic	2	179467318	179467318	C	A	criteria provided, single submitter	ClinGen:CA349547316
Duplication	NM_001267550.2(TTN):c.46843dup (p.Thr15615fs)	TTN	Likely pathogenic	2	179483433	179483434	G	GT	criteria provided, single submitter	ClinGen:CA658657157
Duplication	NM_001267550.2(TTN):c.53848dup (p.Leu17950fs)	TTN	Likely pathogenic	2	179470173	179470174	A	AG	criteria provided, single submitter	ClinGen:CA658657161