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.69367G>T (p.Gly23123Ter)	TTN	Likely pathogenic	2	179441695	179441695	C	A	criteria provided, single submitter	ClinGen:CA349668893
single nucleotide variant	NM_001267550.2(TTN):c.50619G>A (p.Trp16873Ter)	TTN	Likely pathogenic	2	179476337	179476337	C	T	criteria provided, single submitter	ClinGen:CA349595023
Deletion	NM_001458.5(FLNC):c.5704del (p.Ala1902fs)	FLNC	Pathogenic	7	128491543	128491543	AG	A	criteria provided, single submitter	ClinGen:CA645372844
Insertion	NM_001267550.2(TTN):c.94179_94180insAG (p.Pro31394fs)	TTN	Likely pathogenic	2	179412173	179412174	G	GCT	criteria provided, single submitter	ClinGen:CA658653757
Insertion	NM_001267550.2(TTN):c.94178_94179insTCTAG (p.Lys31393fs)	TTN	Likely pathogenic	2	179412174	179412175	T	TCTAGA	criteria provided, single submitter	ClinGen:CA658653758
Deletion	NM_001267550.2(TTN):c.94371del (p.Glu31458fs)	TTN	Likely pathogenic	2	179411881	179411881	CT	C	criteria provided, single submitter	ClinGen:CA658657134
single nucleotide variant	NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)	TTN	Likely pathogenic	2	179435313	179435313	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349622093
single nucleotide variant	NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)	TTN	Pathogenic/Likely pathogenic	2	179451927	179451927	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349446699
Duplication	NM_001267550.2(TTN):c.40626dup (p.Pro13543fs)	TTN	Likely pathogenic	2	179505974	179505975	G	GT	criteria provided, single submitter	ClinGen:CA658657167
single nucleotide variant	NM_001267550.2(TTN):c.106375-2A>G	TTN	Pathogenic/Likely pathogenic	2	179394845	179394845	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349405662