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
Deletion	NM_001267550.2(TTN):c.107644del (p.Ser35882fs)	TTN	Likely pathogenic	2	179392209	179392209	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.73676_73694del (p.Arg24559fs)	TTN	Likely pathogenic	2	179437165	179437183	TGCTTTTCTTGTTGATTCCC	T	criteria provided, single submitter	-
Indel	NM_001458.5(FLNC):c.7562-15_7637delinsGAGG	FLNC	Pathogenic	7	128497157	128497247	ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC	GAGG	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.106531+1G>A	TTN	Pathogenic/Likely pathogenic	2	179394686	179394686	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)	TTN	Likely pathogenic	2	179414948	179414949	C	CTT	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)	TTN	Pathogenic/Likely pathogenic	2	179518019	179518019	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)	TTN	Likely pathogenic	2	179587034	179587034	A	G	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.92812dup (p.Arg30938fs)	TTN	Likely pathogenic	2	179413540	179413541	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)	TTN	Likely pathogenic	2	179399389	179399389	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.94729G>T (p.Gly31577Ter)	TTN	Likely pathogenic	2	179411426	179411426	C	A	criteria provided, single submitter	-