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.37906A>T (p.Lys12636Ter)	TTN	Pathogenic	2	179522462	179522462	T	A	criteria provided, single submitter	ClinGen:CA349481709
single nucleotide variant	NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter)	TTN	Likely pathogenic	2	179585773	179585773	G	C	criteria provided, single submitter	ClinGen:CA349517599
single nucleotide variant	NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)	DNAJB6	Pathogenic/Likely pathogenic	7	157160102	157160102	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA370166103,OMIM:611332.0010
single nucleotide variant	NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)	TTN	Likely pathogenic	2	179431880	179431880	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349600340
single nucleotide variant	NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter)	TTN	Likely pathogenic	2	179425686	179425686	C	T	criteria provided, single submitter	ClinGen:CA349555326
Deletion	NM_001267550.2(TTN):c.56359_56360del (p.Pro18787fs)	TTN	Likely pathogenic	2	179464160	179464161	AGG	A	criteria provided, single submitter	ClinGen:CA658796057
single nucleotide variant	NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)	TTN	Likely pathogenic	2	179397637	179397637	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349413691
Deletion	NM_001267550.2(TTN):c.104087del (p.Pro34696fs)	TTN	Likely pathogenic	2	179397255	179397255	TG	T	criteria provided, single submitter	ClinGen:CA430236105
Deletion	NM_001267550.2(TTN):c.56716del (p.Glu18906fs)	TTN	Likely pathogenic	2	179463721	179463721	TC	T	criteria provided, single submitter	ClinGen:CA658796056
single nucleotide variant	NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)	TTN	Likely pathogenic	2	179464475	179464475	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349534533