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.10120A>T (p.Lys3374Ter)	TTN	Likely pathogenic	2	179623894	179623894	T	A	criteria provided, single submitter	ClinGen:CA088658
single nucleotide variant	NM_004281.4(BAG3):c.909+1G>A	BAG3	Likely pathogenic	10	121432169	121432169	G	A	criteria provided, single submitter	ClinGen:CA352059
single nucleotide variant	NM_001267550.2(TTN):c.12757C>T (p.Gln4253Ter)	TTN	Likely pathogenic	2	179605203	179605203	G	A	criteria provided, single submitter	ClinGen:CA353074
Deletion	NM_001267550.2(TTN):c.29062del (p.Ala9688fs)	TTN	Likely pathogenic	2	179571661	179571661	GC	G	criteria provided, single submitter	ClinGen:CA353020
Deletion	NM_001267550.2(TTN):c.41447del (p.Gly13816fs)	TTN	Likely pathogenic	2	179500851	179500851	GC	G	criteria provided, single submitter	ClinGen:CA353371
Deletion	NM_001267550.2(TTN):c.43792del (p.Gly14597_Val14598insTer)	TTN	Likely pathogenic	2	179495983	179495983	AC	A	criteria provided, single submitter	ClinGen:CA353265
single nucleotide variant	NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter)	TTN	Likely pathogenic	2	179485525	179485525	A	C	criteria provided, single submitter	ClinGen:CA353342
single nucleotide variant	NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)	TTN	Likely pathogenic	2	179482115	179482115	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA090034
single nucleotide variant	NM_001267550.2(TTN):c.47875+1G>A	TTN	Likely pathogenic	2	179481846	179481846	C	T	criteria provided, single submitter	ClinGen:CA353271
single nucleotide variant	NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter)	TTN	Likely pathogenic	2	179480145	179480145	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353382