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
Duplication	NM_001267550.2(TTN):c.98265_98268dup (p.His32757fs)	TTN	Likely pathogenic	2	179404523	179404524	G	GTGTT	criteria provided, single submitter	ClinGen:CA353333
single nucleotide variant	NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter)	TTN	Likely pathogenic	2	179399346	179399346	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353051
Deletion	NM_001267550.2(TTN):c.106629del (p.Ala35544fs)	TTN	Pathogenic/Likely pathogenic	2	179393849	179393849	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353205
single nucleotide variant	NM_001267550.2(TTN):c.49346-1G>A	TTN	Pathogenic/Likely pathogenic	2	179478665	179478665	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353085
Deletion	NM_001267550.2(TTN):c.50247del (p.Phe16749fs)	TTN	Likely pathogenic	2	179477005	179477005	TA	T	criteria provided, single submitter	ClinGen:CA353291
single nucleotide variant	NM_001267550.2(TTN):c.53488G>T (p.Gly17830Ter)	TTN	Likely pathogenic	2	179471841	179471841	C	A	criteria provided, single submitter	ClinGen:CA123879
Deletion	NM_001267550.2(TTN):c.58172del (p.Asp19391fs)	TTN	Likely pathogenic	2	179458948	179458948	GT	G	criteria provided, single submitter	ClinGen:CA353094
single nucleotide variant	NM_001267550.2(TTN):c.59627-1G>A	TTN	Likely pathogenic	2	179457005	179457005	C	T	criteria provided, single submitter	ClinGen:CA353250
single nucleotide variant	NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)	TTN	Pathogenic/Likely pathogenic	2	179452435	179452435	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA130338
single nucleotide variant	NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)	TTN	Pathogenic/Likely pathogenic	2	179450018	179450018	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA090110