筋原線維性ミオパチー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.67495C>T (p.Arg22499Ter)	TTN	Pathogenic/Likely pathogenic	2	179444429	179444429	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346762
single nucleotide variant	NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)	TTN	Likely pathogenic	2	179407168	179407168	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA236076
Duplication	NM_001267550.2(TTN):c.49336dup (p.Tyr16446fs)	TTN	Likely pathogenic	2	179478787	179478788	T	TA	criteria provided, single submitter	ClinGen:CA275108
single nucleotide variant	NM_001267550.2(TTN):c.53995G>T (p.Glu17999Ter)	TTN	Likely pathogenic	2	179469909	179469909	C	A	criteria provided, single submitter	ClinGen:CA275117
Duplication	NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)	TTN	Likely pathogenic	2	179455770	179455771	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA275135
single nucleotide variant	NM_001267550.2(TTN):c.79162G>T (p.Gly26388Ter)	TTN	Likely pathogenic	2	179431697	179431697	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275146
Duplication	NM_001267550.2(TTN):c.82541_82544dup (p.Arg27515delinsSerTer)	TTN	Likely pathogenic	2	179428314	179428315	T	TCTAA	criteria provided, single submitter	ClinGen:CA275149
single nucleotide variant	NM_001267550.2(TTN):c.88594+1G>T	TTN	Likely pathogenic	2	179419591	179419591	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275153
Deletion	NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs)	TTN	Likely pathogenic	2	179418853	179418859	ACCGCCAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275154
single nucleotide variant	NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)	TTN	Likely pathogenic	2	179402215	179402215	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275197