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
Duplication	NM_001267550.2(TTN):c.96460dup (p.Thr32154fs)	TTN	Likely pathogenic	2	179408239	179408240	G	GT	criteria provided, single submitter	ClinGen:CA353270
single nucleotide variant	NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)	TTN	Pathogenic/Likely pathogenic	2	179404286	179404286	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353281
single nucleotide variant	NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter)	TTN	Likely pathogenic	2	179401029	179401029	G	T	criteria provided, single submitter	ClinGen:CA353388
Deletion	NM_001267550.2(TTN):c.101021_101022del (p.Arg33674fs)	TTN	Likely pathogenic	2	179400320	179400321	ATC	A	criteria provided, single submitter	ClinGen:CA353144
Deletion	NM_001267550.2(TTN):c.14056del (p.Thr4686fs)	TTN	Likely pathogenic	2	179603904	179603904	GT	G	criteria provided, single submitter	ClinGen:CA353330
single nucleotide variant	NM_001267550.2(TTN):c.41835T>G (p.Tyr13945Ter)	TTN	Likely pathogenic	2	179500216	179500216	A	C	criteria provided, single submitter	ClinGen:CA353041
single nucleotide variant	NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)	TTN	Likely pathogenic	2	179482120	179482120	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA090279
single nucleotide variant	NM_001267550.2(TTN):c.49458G>A (p.Trp16486Ter)	TTN	Likely pathogenic	2	179478552	179478552	C	T	criteria provided, single submitter	ClinGen:CA353344
Deletion	NM_001267550.2(TTN):c.56206del (p.Thr18736fs)	TTN	Likely pathogenic	2	179464422	179464422	GT	G	criteria provided, single submitter	ClinGen:CA353119
Deletion	NM_001267550.2(TTN):c.56834del (p.Gly18945fs)	TTN	Likely pathogenic	2	179463603	179463603	AC	A	criteria provided, single submitter	ClinGen:CA353219