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.5478T>G (p.Tyr1826Ter)	FLNC	Pathogenic/Likely pathogenic	7	128490936	128490936	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004281.4(BAG3):c.20C>A (p.Ser7Ter)	BAG3	Likely pathogenic	10	121411207	121411207	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter)	BAG3	Likely pathogenic	10	121436483	121436483	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001458.5(FLNC):c.2795dup (p.Tyr932Ter)	FLNC	Likely pathogenic	7	128483614	128483615	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)	TTN	Likely pathogenic	2	179400235	179400235	G	A	criteria provided, multiple submitters, no conflicts	-
copy number loss	GRCh37/hg19 2q31.2(chr2:179403525-179655493)	TTN	Likely pathogenic	2	179403525	179655493	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.100887G>A (p.Trp33629Ter)	TTN	Likely pathogenic	2	179400455	179400455	C	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs)	TTN	Likely pathogenic	2	179415704	179415714	CTCTTGTCATAA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.87354del (p.Ala29119fs)	TTN	Likely pathogenic	2	179422727	179422727	CA	C	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.70745dup (p.Thr23583fs)	TTN	Likely pathogenic	2	179440113	179440114	G	GA	criteria provided, multiple submitters, no conflicts	-