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.68508dup (p.Val22837fs)	TTN	Pathogenic/Likely pathogenic	2	179442733	179442734	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617359
Deletion	NM_001267550.2(TTN):c.72956_72963del (p.Asp24319fs)	TTN	Pathogenic/Likely pathogenic	2	179437896	179437903	ACACAGTGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617355
Indel	NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)	TTN	Pathogenic/Likely pathogenic	2	179436483	179436491	GTTAGTCAG	CTTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617353
single nucleotide variant	NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)	TTN	Pathogenic/Likely pathogenic	2	179432455	179432455	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617350
Deletion	NM_001267550.2(TTN):c.78749del (p.Leu26250fs)	TTN	Pathogenic/Likely pathogenic	2	179432110	179432110	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617349
single nucleotide variant	NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)	TTN	Pathogenic/Likely pathogenic	2	179431256	179431256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617347
single nucleotide variant	NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter)	TTN	Pathogenic/Likely pathogenic	2	179431066	179431066	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617346
Deletion	NM_001267550.2(TTN):c.84365del (p.Gly28122fs)	TTN	Pathogenic/Likely pathogenic	2	179426494	179426494	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1988788
single nucleotide variant	NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	TTN	Pathogenic/Likely pathogenic	2	179400887	179400887	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617330
single nucleotide variant	NM_001267550.2(TTN):c.15496+1G>T	TTN	Pathogenic/Likely pathogenic	2	179599054	179599054	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610517