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.836C>A (p.Ser279Ter)	BAG3	Likely pathogenic	10	121432095	121432095	C	A	criteria provided, single submitter	ClinGen:CA214222103
single nucleotide variant	NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)	FLNC	Pathogenic/Likely pathogenic	7	128485076	128485076	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA369197234
single nucleotide variant	NM_001267550.2(TTN):c.99712C>T (p.Gln33238Ter)	TTN	Pathogenic	2	179402222	179402222	G	A	criteria provided, single submitter	ClinGen:CA349427624
single nucleotide variant	NM_001267550.2(TTN):c.89197+1G>C	TTN	Pathogenic/Likely pathogenic	2	179418640	179418640	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349520239
Deletion	NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs)	TTN	Pathogenic/Likely pathogenic	2	179429598	179429616	GATCTTTTGAGATTGATGTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1989233
single nucleotide variant	NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter)	TTN	Likely pathogenic	2	179431718	179431718	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349599445
Deletion	NM_001267550.2(TTN):c.75663del (p.Lys25221fs)	TTN	Pathogenic/Likely pathogenic	2	179435196	179435196	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA538435329
single nucleotide variant	NM_001267550.2(TTN):c.73504G>T (p.Glu24502Ter)	TTN	Pathogenic	2	179437355	179437355	C	A	criteria provided, single submitter	ClinGen:CA349638828
Deletion	NM_001267550.2(TTN):c.70000del (p.Glu23334fs)	TTN	Pathogenic/Likely pathogenic	2	179440859	179440859	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369274
single nucleotide variant	NM_001267550.2(TTN):c.67272C>A (p.Tyr22424Ter)	TTN	Likely pathogenic	2	179444742	179444742	G	T	criteria provided, single submitter	ClinGen:CA349424114