筋原線維性ミオパチー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001267550.2(TTN):c.106531+1G>A	TTN	Pathogenic/Likely pathogenic	2	179394686	179394686	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)	TTN	Pathogenic/Likely pathogenic	2	179395919	179395919	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)	FLNC	Pathogenic/Likely pathogenic	7	128498475	128498475	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)	FLNC	Pathogenic/Likely pathogenic	7	128486190	128486190	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001458.5(FLNC):c.8107del (p.Asp2703fs)	FLNC	Pathogenic/Likely pathogenic	7	128498503	128498503	AG	A	criteria provided, multiple submitters, no conflicts	OMIM:102565.0018
single nucleotide variant	NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter)	FLNC	Pathogenic/Likely pathogenic	7	128488655	128488655	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)	TTN	Pathogenic/Likely pathogenic	2	179474028	179474028	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)	TTN	Pathogenic/Likely pathogenic	2	179453401	179453402	T	TGC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.73568del (p.Pro24523fs)	TTN	Pathogenic/Likely pathogenic	2	179437291	179437291	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)	TTN	Pathogenic/Likely pathogenic	2	179464371	179464371	G	A	criteria provided, multiple submitters, no conflicts	-