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
Deletion	NM_001267550.2(TTN):c.58568del (p.Gly19523fs)	TTN	Pathogenic/Likely pathogenic	2	179458459	179458459	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.99063del (p.Lys33021fs)	TTN	Pathogenic/Likely pathogenic	2	179403493	179403493	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)	TTN	Pathogenic/Likely pathogenic	2	179429136	179429136	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001458.5(FLNC):c.5165del (p.Gly1722fs)	FLNC	Pathogenic/Likely pathogenic	7	128489594	128489594	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797011
Deletion	NM_001458.5(FLNC):c.7929del (p.Leu2645fs)	FLNC	Pathogenic/Likely pathogenic	7	128498210	128498210	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797008
Deletion	NM_001267550.2(TTN):c.51525del (p.Ser17177fs)	TTN	Pathogenic/Likely pathogenic	2	179474625	179474625	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795993
Duplication	NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)	TTN	Pathogenic/Likely pathogenic	2	179435222	179435223	C	CAACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796030
Deletion	NM_001267550.2(TTN):c.72826del (p.Thr24276fs)	TTN	Pathogenic/Likely pathogenic	2	179438033	179438033	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796037
single nucleotide variant	NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)	TTN	Pathogenic/Likely pathogenic	2	179392275	179392275	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60949220
single nucleotide variant	NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)	BAG3	Pathogenic/Likely pathogenic	10	121411264	121411264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294121