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.74608del (p.Ala24870fs)	TTN	Pathogenic/Likely pathogenic	2	179436251	179436251	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581845
single nucleotide variant	NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)	TTN	Likely pathogenic	2	179441418	179441418	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581850
single nucleotide variant	NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)	TTN	Pathogenic/Likely pathogenic	2	179454531	179454531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581854
single nucleotide variant	NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter)	TTN	Likely pathogenic	2	179463336	179463336	G	T	criteria provided, single submitter	ClinGen:CA10581861
single nucleotide variant	NM_001927.4(DES):c.1013T>C (p.Leu338Pro)	DES	Likely pathogenic	2	220285665	220285665	T	C	criteria provided, single submitter	ClinGen:CA10581950
single nucleotide variant	NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr)	FLNC	Pathogenic	7	128488649	128488649	G	A	criteria provided, single submitter	OMIM:102565.0005
single nucleotide variant	NM_001267550.2(TTN):c.9112T>C (p.Tyr3038His)	TTN	Likely pathogenic	2	179633451	179633451	A	G	criteria provided, single submitter	ClinGen:CA10586349
single nucleotide variant	NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter)	TTN	Likely pathogenic	2	179402438	179402438	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587446
Duplication	NM_001267550.2(TTN):c.92631dup (p.Lys30878fs)	TTN	Pathogenic/Likely pathogenic	2	179413721	179413722	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587450
single nucleotide variant	NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)	TTN	Pathogenic/Likely pathogenic	2	179418821	179418821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587456