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
Duplication	NM_001267550.2(TTN):c.75665dup (p.Cys25222fs)	TTN	Likely pathogenic	2	179435193	179435194	G	GC	criteria provided, single submitter	ClinGen:CA658796029
Duplication	NM_001267550.2(TTN):c.72826_72829dup (p.Leu24277fs)	TTN	Pathogenic	2	179438029	179438030	A	AGAGT	criteria provided, single submitter	ClinGen:CA658796036
Deletion	NM_001267550.2(TTN):c.43370del (p.Lys14457fs)	TTN	Likely pathogenic	2	179497363	179497363	CT	C	criteria provided, single submitter	ClinGen:CA658796016
single nucleotide variant	NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter)	BAG3	Pathogenic/Likely pathogenic	10	121429440	121429440	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294739
Deletion	NM_001267550.2(TTN):c.51870del (p.Glu17291fs)	TTN	Likely pathogenic	2	179474167	179474167	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795990
Deletion	NM_001267550.2(TTN):c.81521del (p.Pro27174fs)	TTN	Likely pathogenic	2	179429338	179429338	AG	A	criteria provided, single submitter	ClinGen:CA658796020
Deletion	NM_001267550.2(TTN):c.75443del (p.Gly25148fs)	TTN	Likely pathogenic	2	179435416	179435416	AC	A	criteria provided, single submitter	ClinGen:CA658796032
Duplication	NM_001267550.2(TTN):c.42968dup (p.Pro14324fs)	TTN	Likely pathogenic	2	179498031	179498032	C	CT	criteria provided, single submitter	ClinGen:CA658796017
Deletion	NM_003319.4(TTN):c.80003_80028+4del	TTN	Likely pathogenic	2	179393251	179393280	CTTACTGGCAGGTTGTTTTTAAACCATTCGA	C	criteria provided, single submitter	ClinGen:CA658795972
Deletion	NM_001267550.2(TTN):c.73387del (p.Ala24463fs)	TTN	Likely pathogenic	2	179437472	179437472	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796034