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.634C>T (p.Gln212Ter)	TTN	Likely pathogenic	2	179664587	179664587	G	A	criteria provided, single submitter	ClinGen:CA349524918
Deletion	NM_001267550.2(TTN):c.102788del (p.Pro34263fs)	TTN	Likely pathogenic	2	179398554	179398554	AG	A	criteria provided, single submitter	ClinGen:CA658657123
Duplication	NM_001267550.2(TTN):c.100558_100561dup (p.Gly33521fs)	TTN	Likely pathogenic	2	179400912	179400913	C	CCAGT	criteria provided, single submitter	ClinGen:CA658657125
single nucleotide variant	NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)	TTN	Pathogenic/Likely pathogenic	2	179411050	179411050	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349467635
single nucleotide variant	NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)	TTN	Pathogenic/Likely pathogenic	2	179417257	179417257	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349511395
single nucleotide variant	NM_001267550.2(TTN):c.82350T>A (p.Tyr27450Ter)	TTN	Likely pathogenic	2	179428509	179428509	A	T	criteria provided, single submitter	ClinGen:CA349573978
single nucleotide variant	NM_001267550.2(TTN):c.80452G>T (p.Glu26818Ter)	TTN	Likely pathogenic	2	179430407	179430407	C	A	criteria provided, single submitter	ClinGen:CA349588714
Deletion	NM_001267550.2(TTN):c.78225del (p.Ala26076fs)	TTN	Likely pathogenic	2	179432634	179432634	CT	C	criteria provided, single submitter	ClinGen:CA658657138
Duplication	NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs)	TTN	Likely pathogenic	2	179435867	179435868	A	ATACTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657152
Duplication	NM_001267550.2(TTN):c.71202dup (p.Lys23735fs)	TTN	Pathogenic/Likely pathogenic	2	179439656	179439657	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA430257756