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.72826dup (p.Thr24276fs)	TTN	Pathogenic/Likely pathogenic	2	179438032	179438033	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA60999791
single nucleotide variant	NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter)	TTN	Likely pathogenic	2	179401731	179401731	G	A	criteria provided, single submitter	ClinGen:CA349426757
single nucleotide variant	NM_001267550.2(TTN):c.95063T>G (p.Leu31688Ter)	TTN	Likely pathogenic	2	179410995	179410995	A	C	criteria provided, single submitter	ClinGen:CA349466946
Insertion	NM_001267550.2(TTN):c.94182_94183insAGCAGCT (p.Leu31395fs)	TTN	Likely pathogenic	2	179412170	179412171	G	GAGCTGCT	criteria provided, single submitter	ClinGen:CA658657135
Deletion	NM_001267550.2(TTN):c.66039del (p.Ser22014fs)	TTN	Likely pathogenic	2	179447144	179447144	TG	T	criteria provided, single submitter	ClinGen:CA658657148
single nucleotide variant	NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter)	TTN	Likely pathogenic	2	179449453	179449453	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349436291
Deletion	NM_001267550.2(TTN):c.63801del (p.Pro21269fs)	TTN	Likely pathogenic	2	179452137	179452137	CA	C	criteria provided, single submitter	ClinGen:CA658657151
single nucleotide variant	NM_001267550.2(TTN):c.88562C>A (p.Ser29521Ter)	TTN	Likely pathogenic	2	179419624	179419624	G	T	criteria provided, single submitter	ClinGen:CA349526686
single nucleotide variant	NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)	TTN	Likely pathogenic	2	179424433	179424433	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349543885
single nucleotide variant	NM_001267550.2(TTN):c.83345C>G (p.Ser27782Ter)	TTN	Likely pathogenic	2	179427514	179427514	G	C	criteria provided, single submitter	ClinGen:CA349568154