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_001458.5(FLNC):c.3039C>A (p.Cys1013Ter)	FLNC	Pathogenic	7	128484167	128484167	C	A	criteria provided, single submitter	ClinGen:CA369194055
single nucleotide variant	NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)	FLNC	Pathogenic	7	128488670	128488670	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4475410
single nucleotide variant	NM_001458.5(FLNC):c.697C>T (p.Gln233Ter)	FLNC	Pathogenic	7	128477309	128477309	C	T	criteria provided, single submitter	ClinGen:CA369221671
single nucleotide variant	NM_001458.5(FLNC):c.1549+2T>G	FLNC	Likely pathogenic	7	128480216	128480216	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA166216228
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_001458.5(FLNC):c.6976C>T (p.Arg2326Ter)	FLNC	Pathogenic	7	128494715	128494715	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4476120
Deletion	NM_001458.5(FLNC):c.7371del (p.Glu2458fs)	FLNC	Pathogenic	7	128496691	128496691	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657727
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
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
Inversion	NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)	BAG3	Pathogenic	10	121436362	121436363	AC	GT	criteria provided, single submitter	ClinGen:CA658656099