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.49413G>A (p.Trp16471Ter)	TTN	Pathogenic/Likely pathogenic	2	179478597	179478597	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588327
single nucleotide variant	NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)	FLNC	Pathogenic/Likely pathogenic	7	128484099	128484099	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:427828,ClinGen:CA166177514
single nucleotide variant	NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter)	TTN	Likely pathogenic	2	179454770	179454770	G	C	criteria provided, single submitter	ClinGen:CA349470213
single nucleotide variant	NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)	CRYAB	Likely pathogenic	11	111779690	111779690	T	C	criteria provided, single submitter	ClinGen:CA382596838
Duplication	NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)	TTN	Likely pathogenic	2	179454322	179454323	C	CT	criteria provided, single submitter	ClinGen:CA10588986
Duplication	NM_001267550.2(TTN):c.79145dup (p.Asn26382fs)	TTN	Likely pathogenic	2	179431713	179431714	A	AT	criteria provided, single submitter	ClinGen:CA10602817
Duplication	NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs)	TTN	Pathogenic/Likely pathogenic	2	179400321	179400322	C	CTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602822
Duplication	NM_001267550.2(TTN):c.64688dup (p.Gln21564fs)	TTN	Pathogenic/Likely pathogenic	2	179449679	179449680	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA1991855
Deletion	NM_001267550.2(TTN):c.90393del (p.Asp30132fs)	TTN	Pathogenic	2	179417234	179417234	CA	C	criteria provided, single submitter	ClinGen:CA10602831
single nucleotide variant	NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter)	TTN	Pathogenic/Likely pathogenic	2	179425315	179425315	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602832