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.57331C>T (p.Arg19111Ter)	TTN	Pathogenic/Likely pathogenic	2	179462478	179462478	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261883
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
Deletion	NM_001267550.2(TTN):c.59205del (p.Glu19735fs)	TTN	Pathogenic/Likely pathogenic	2	179457641	179457641	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261890
single nucleotide variant	NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)	TTN	Pathogenic/Likely pathogenic	2	179454576	179454576	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261891
single nucleotide variant	NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)	TTN	Pathogenic	2	179446377	179446377	G	T	criteria provided, single submitter	ClinGen:CA261896
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.71602C>T (p.Arg23868Ter)	TTN	Pathogenic/Likely pathogenic	2	179439257	179439257	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261901
Deletion	NM_001267550.2(TTN):c.73845del (p.Glu24615fs)	TTN	Pathogenic/Likely pathogenic	2	179437014	179437014	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261907
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
single nucleotide variant	NM_001267550.2(TTN):c.86821+2T>A	TTN	Pathogenic/Likely pathogenic	2	179424036	179424036	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261913