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_001267550.2(TTN):c.69558G>A (p.Trp23186Ter)	TTN	Likely pathogenic	2	179441413	179441413	C	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.68941del (p.Trp22981fs)	TTN	Likely pathogenic	2	179442121	179442121	CA	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.68876_68883del (p.Lys22959fs)	TTN	Likely pathogenic	2	179442179	179442186	CCCCTGCTT	C	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.68325dup (p.Thr22776fs)	TTN	Likely pathogenic	2	179443341	179443342	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)	TTN	Likely pathogenic	2	179451310	179451310	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.64297del (p.Glu21433fs)	TTN	Likely pathogenic	2	179451331	179451331	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter)	TTN	Likely pathogenic	2	179451406	179451406	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter)	TTN	Likely pathogenic	2	179454605	179454605	C	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.61757_61758del (p.Cys20586fs)	TTN	Likely pathogenic	2	179454694	179454695	TAC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter)	TTN	Likely pathogenic	2	179455128	179455128	C	A	criteria provided, single submitter	-