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.54067C>T (p.Arg18023Ter)	TTN	Pathogenic/Likely pathogenic	2	179469837	179469837	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349556213
Duplication	NM_001267550.2(TTN):c.72826dup (p.Thr24276fs)	TTN	Pathogenic/Likely pathogenic	2	179438032	179438033	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA60999791
single nucleotide variant	NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)	TTN	Pathogenic/Likely pathogenic	2	179398819	179398819	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1985742
Duplication	NM_001267550.2(TTN):c.71202dup (p.Lys23735fs)	TTN	Pathogenic/Likely pathogenic	2	179439656	179439657	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA430257756
single nucleotide variant	NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)	TTN	Pathogenic/Likely pathogenic	2	179417257	179417257	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349511395
single nucleotide variant	NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)	TTN	Pathogenic/Likely pathogenic	2	179411050	179411050	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349467635
single nucleotide variant	NM_001267550.2(TTN):c.106375-2A>G	TTN	Pathogenic/Likely pathogenic	2	179394845	179394845	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349405662
single nucleotide variant	NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)	TTN	Pathogenic/Likely pathogenic	2	179451927	179451927	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349446699
single nucleotide variant	NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)	TTN	Pathogenic/Likely pathogenic	2	179435390	179435390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349625004
single nucleotide variant	NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)	TTN	Pathogenic/Likely pathogenic	2	179470423	179470423	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349562547