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
single nucleotide variant	NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)	TTN	Likely pathogenic	2	179645884	179645884	C	T	criteria provided, single submitter	ClinGen:CA349483247
single nucleotide variant	NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter)	TTN	Likely pathogenic	2	179638267	179638267	G	A	criteria provided, single submitter	ClinGen:CA2004799
single nucleotide variant	NM_001267550.2(TTN):c.9112T>C (p.Tyr3038His)	TTN	Likely pathogenic	2	179633451	179633451	A	G	criteria provided, single submitter	ClinGen:CA10586349
single nucleotide variant	NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)	TTN	Pathogenic/Likely pathogenic	2	179631234	179631234	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.9654C>G (p.Tyr3218Ter)	TTN	Likely pathogenic	2	179631157	179631157	G	C	criteria provided, single submitter	ClinGen:CA349674681
single nucleotide variant	NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter)	TTN	Likely pathogenic	2	179623894	179623894	T	A	criteria provided, single submitter	ClinGen:CA088658
Deletion	NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs)	TTN	Likely pathogenic	2	179623767	179623773	AAACGTGT	A	criteria provided, single submitter	ClinGen:CA10576569
Duplication	NM_133379.5(TTN):c.14304dup (p.Ala4769fs)	TTN	Likely pathogenic	2	179612822	179612823	C	CT	criteria provided, single submitter	-
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