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_001927.4(DES):c.1201G>A (p.Glu401Lys)	DES	Likely pathogenic	2	220286239	220286239	G	A	criteria provided, single submitter	ClinGen:CA284671,UniProtKB:P17661#VAR_067211
single nucleotide variant	NM_001927.4(DES):c.137C>A (p.Ser46Tyr)	DES	Likely pathogenic	2	220283321	220283321	C	A	criteria provided, single submitter	ClinGen:CA217053,UniProtKB:P17661#VAR_042450
single nucleotide variant	NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)	TTN	Likely pathogenic	2	179460389	179460389	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)	TTN	Likely pathogenic	2	179404186	179404186	C	G	criteria provided, single submitter	ClinGen:CA269799
Deletion	NM_001267550.2(TTN):c.66975_66978del (p.Lys22326fs)	TTN	Likely pathogenic	2	179445128	179445131	ATTTG	A	criteria provided, single submitter	ClinGen:CA345901
Deletion	NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs)	TTN	Likely pathogenic	2	179401806	179401810	GAAGAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273248
single nucleotide variant	NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)	TTN	Likely pathogenic	2	179404264	179404264	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273569
single nucleotide variant	NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)	TTN	Likely pathogenic	2	179404658	179404658	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273595
single nucleotide variant	NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)	TTN	Likely pathogenic	2	179415782	179415782	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273585
Deletion	NM_001267550.2(TTN):c.83603del (p.Gly27868fs)	TTN	Likely pathogenic	2	179427256	179427256	TC	T	criteria provided, single submitter	ClinGen:CA273641