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_004281.4(BAG3):c.258C>G (p.Tyr86Ter)	BAG3	Pathogenic/Likely pathogenic	10	121429440	121429440	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294739
single nucleotide variant	NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter)	FLNC	Pathogenic/Likely pathogenic	7	128491594	128491594	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA369208313
single nucleotide variant	NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)	DNAJB6	Pathogenic/Likely pathogenic	7	157160102	157160102	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA370166103,OMIM:611332.0010
single nucleotide variant	NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)	TTN	Pathogenic/Likely pathogenic	2	179428202	179428202	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60986821
single nucleotide variant	NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)	TTN	Pathogenic/Likely pathogenic	2	179425091	179425091	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349548048
single nucleotide variant	NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)	TTN	Pathogenic/Likely pathogenic	2	179416930	179416930	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349509363
single nucleotide variant	NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg)	FLNC	Pathogenic/Likely pathogenic	7	128492908	128492908	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA369210984
Duplication	NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs)	FLNC	Pathogenic/Likely pathogenic	7	128486183	128486184	C	CACCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657720
Insertion	NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)	FLNC	Pathogenic/Likely pathogenic	7	128489028	128489029	T	TCGTCACAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA457848858
single nucleotide variant	NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)	TTN	Pathogenic/Likely pathogenic	2	179458065	179458065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349501189