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.66228G>A (p.Trp22076Ter)	TTN	Likely pathogenic	2	179446868	179446868	C	T	criteria provided, single submitter	ClinGen:CA349429589
Deletion	NM_001267550.2(TTN):c.61479_61483del (p.Ile20494fs)	TTN	Likely pathogenic	2	179454969	179454973	CGGATA	C	criteria provided, single submitter	ClinGen:CA645369276
single nucleotide variant	NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)	TTN	Pathogenic/Likely pathogenic	2	179470423	179470423	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349562547
single nucleotide variant	NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter)	TTN	Pathogenic	2	179474496	179474496	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349583453
single nucleotide variant	NM_007078.3(LDB3):c.686G>T (p.Gly229Val)	LDB3	Likely pathogenic	10	88441557	88441557	G	T	criteria provided, single submitter	ClinGen:CA377455773
Indel	NM_001458.5(FLNC):c.3547_3548delinsCT (p.Ala1183Leu)	FLNC	Likely pathogenic	7	128485066	128485067	GC	CT	criteria provided, single submitter	ClinGen:CA645372843
single nucleotide variant	NM_001267550.2(TTN):c.100927C>T (p.Gln33643Ter)	TTN	Likely pathogenic	2	179400415	179400415	G	A	criteria provided, single submitter	ClinGen:CA349422395
single nucleotide variant	NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter)	TTN	Likely pathogenic	2	179412572	179412572	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349480887
Deletion	NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs)	TTN	Likely pathogenic	2	179432908	179432926	AGCTACAATTGGATCAGACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372700
single nucleotide variant	NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)	TTN	Pathogenic/Likely pathogenic	2	179435390	179435390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349625004