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.57057del (p.Lys19019_Val19020insTer)	TTN	Likely pathogenic	2	179463287	179463287	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657154
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.51624_51654dup (p.Gln17219delinsSerLysArgThrTer)	TTN	Likely pathogenic	2	179474495	179474496	G	GGTACTCTTTCCCCTCTTCAAGTCCTTTTGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657165
single nucleotide variant	NM_001267550.2(TTN):c.81943G>T (p.Glu27315Ter)	TTN	Likely pathogenic	2	179428916	179428916	C	A	criteria provided, single submitter	ClinGen:CA1989132
Deletion	NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs)	TTN	Likely pathogenic	2	179444847	179444848	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657150
single nucleotide variant	NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter)	TTN	Likely pathogenic	2	179431565	179431565	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1989495
single nucleotide variant	NM_001267550.2(TTN):c.66161-1G>C	TTN	Likely pathogenic	2	179446936	179446936	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349429741
single nucleotide variant	NM_001267550.2(TTN):c.71002A>T (p.Lys23668Ter)	TTN	Likely pathogenic	2	179439857	179439857	T	A	criteria provided, single submitter	ClinGen:CA349659824
single nucleotide variant	NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter)	TTN	Pathogenic	2	179439881	179439881	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349659930
single nucleotide variant	NM_001267550.2(TTN):c.68943G>A (p.Trp22981Ter)	TTN	Likely pathogenic	2	179442119	179442119	C	T	criteria provided, single submitter	ClinGen:CA349670794