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.8076C>A (p.Tyr2692Ter)	FLNC	Pathogenic/Likely pathogenic	7	128498475	128498475	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter)	TTN	Pathogenic	2	179439983	179439983	C	A	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter)	TTN	Likely pathogenic	2	179395919	179395920	G	GT	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_001267550.2(TTN):c.73332C>A (p.Cys24444Ter)	TTN	Likely pathogenic	2	179437527	179437527	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)	TTN	Likely pathogenic	2	179428127	179428127	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.99401G>A (p.Trp33134Ter)	TTN	Likely pathogenic	2	179402533	179402533	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.95009del (p.Arg31670fs)	TTN	Likely pathogenic	2	179411049	179411049	TC	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.105077_105078del (p.Tyr35026fs)	TTN	Likely pathogenic	2	179396264	179396265	CAT	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.56330_56334del (p.Met18777fs)	TTN	Likely pathogenic	2	179464294	179464298	GTCTCA	G	criteria provided, single submitter	-