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
Insertion	NM_001267550.2(TTN):c.52035_52036insTT (p.Leu17346fs)	TTN	Likely pathogenic	2	179474001	179474002	G	GAA	criteria provided, single submitter	ClinGen:CA353278
Duplication	NM_001267550.2(TTN):c.52223_52227dup (p.Asp17410fs)	TTN	Likely pathogenic	2	179473510	179473511	C	CTTTCT	criteria provided, single submitter	ClinGen:CA353390
single nucleotide variant	NM_001267550.2(TTN):c.53881+1G>T	TTN	Likely pathogenic	2	179470140	179470140	C	A	criteria provided, single submitter	ClinGen:CA353145
Deletion	NM_001267550.2(TTN):c.55525_55531del (p.Asp18509fs)	TTN	Likely pathogenic	2	179466193	179466199	ATCCTGTC	A	criteria provided, single submitter	ClinGen:CA353154
single nucleotide variant	NM_001267550.2(TTN):c.58732+2T>C	TTN	Likely pathogenic	2	179458293	179458293	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353066
single nucleotide variant	NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)	TTN	Likely pathogenic	2	179455521	179455521	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353222
single nucleotide variant	NM_001267550.2(TTN):c.69630C>A (p.Tyr23210Ter)	TTN	Likely pathogenic	2	179441341	179441341	G	T	criteria provided, single submitter	ClinGen:CA089618
Duplication	NM_001267550.2(TTN):c.74306dup (p.Asn24769fs)	TTN	Likely pathogenic	2	179436552	179436553	A	AT	criteria provided, single submitter	ClinGen:CA353227
single nucleotide variant	NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter)	TTN	Likely pathogenic	2	179432675	179432675	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353360
Deletion	NM_001267550.2(TTN):c.78507del (p.Gly26170fs)	TTN	Likely pathogenic	2	179432352	179432352	CA	C	criteria provided, single submitter	ClinGen:CA353089