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
Indel	NM_001267550.2(TTN):c.52499_52504delinsAGTAA (p.Pro17500_Leu17502delinsGlnTer)	TTN	Likely pathogenic	2	179473106	179473111	AAATGG	TTACT	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter)	TTN	Likely pathogenic	2	179431561	179431561	C	T	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.77906dup (p.Asn25969fs)	TTN	Likely pathogenic	2	179432952	179432953	G	GT	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.76540del (p.Asp25513_Leu25514insTer)	TTN	Likely pathogenic	2	179434319	179434319	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.64352T>A (p.Leu21451Ter)	TTN	Likely pathogenic	2	179451276	179451276	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.60263_60264del (p.Leu20088fs)	TTN	Likely pathogenic	2	179456188	179456189	CAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)	TTN	Likely pathogenic	2	179456783	179456783	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.58568del (p.Gly19523fs)	TTN	Pathogenic/Likely pathogenic	2	179458459	179458459	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)	TTN	Pathogenic/Likely pathogenic	2	179464371	179464371	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.55153C>T (p.Gln18385Ter)	TTN	Likely pathogenic	2	179466845	179466845	G	A	criteria provided, single submitter	-