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.55324del (p.Ser18442fs)	TTN	Pathogenic	2	179466493	179466493	GA	G	criteria provided, single submitter	ClinGen:CA309413
single nucleotide variant	NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter)	TTN	Pathogenic/Likely pathogenic	2	179468854	179468854	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309273
single nucleotide variant	NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)	TTN	Pathogenic/Likely pathogenic	2	179469738	179469738	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309476
Deletion	NM_001267550.2(TTN):c.54112del (p.Glu18038fs)	TTN	Pathogenic/Likely pathogenic	2	179469792	179469792	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309412
Deletion	NM_001267550.2(TTN):c.53393del (p.Gly17798fs)	TTN	Pathogenic/Likely pathogenic	2	179471936	179471936	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA309411
single nucleotide variant	NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter)	TTN	Pathogenic/Likely pathogenic	2	179471974	179471974	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309270
single nucleotide variant	NM_001267550.2(TTN):c.52999C>T (p.Gln17667Ter)	TTN	Likely pathogenic	2	179472515	179472515	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309267
single nucleotide variant	NM_001267550.2(TTN):c.52473G>A (p.Trp17491Ter)	TTN	Pathogenic/Likely pathogenic	2	179473137	179473137	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309261
Duplication	NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer)	TTN	Pathogenic	2	179473427	179473428	T	TTCAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA309410
Deletion	NM_001267550.2(TTN):c.51833_51848del (p.Thr17278fs)	TTN	Pathogenic/Likely pathogenic	2	179474189	179474204	CTTTATCCATGTAATAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309542