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
single nucleotide variant	NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter)	TTN	Likely pathogenic	2	179452879	179452879	C	T	criteria provided, single submitter	ClinGen:CA349454778
Indel	NM_001267550.2(TTN):c.48227_48229delinsAAA (p.Trp16076_Glu16077delinsTer)	TTN	Likely pathogenic	2	179481289	179481291	CCC	TTT	criteria provided, single submitter	ClinGen:CA658796074
single nucleotide variant	NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter)	TTN	Likely pathogenic	2	179462421	179462421	C	A	criteria provided, single submitter	ClinGen:CA349521015
single nucleotide variant	NM_001267550.2(TTN):c.48461-2A>C	TTN	Likely pathogenic	2	179480213	179480213	T	G	criteria provided, single submitter	ClinGen:CA349609475
Insertion	NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs)	FLNC	Pathogenic	7	128496910	128496911	A	ATGCT	criteria provided, single submitter	ClinGen:CA658797006
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
single nucleotide variant	NM_001458.5(FLNC):c.444G>A (p.Trp148Ter)	FLNC	Pathogenic	7	128475471	128475471	G	A	criteria provided, single submitter	ClinGen:CA369219143
single nucleotide variant	NM_001458.5(FLNC):c.805C>T (p.Arg269Ter)	FLNC	Pathogenic	7	128477557	128477557	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4474126
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
Duplication	NM_001458.5(FLNC):c.5697dup (p.Ser1900fs)	FLNC	Pathogenic	7	128491536	128491537	C	CA	criteria provided, single submitter	ClinGen:CA658797015