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.90760G>T (p.Gly30254Ter)	TTN	Pathogenic/Likely pathogenic	2	179416867	179416867	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610331
single nucleotide variant	NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)	TTN	Likely pathogenic	2	179411339	179411339	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610333
single nucleotide variant	NM_001267550.2(TTN):c.91965C>A (p.Tyr30655Ter)	TTN	Likely pathogenic	2	179414484	179414484	G	T	criteria provided, single submitter	ClinGen:CA16610337
Duplication	NM_001267550.2(TTN):c.81100_81103dup (p.Thr27035fs)	TTN	Likely pathogenic	2	179429755	179429756	G	GTTAT	criteria provided, single submitter	ClinGen:CA16610345
single nucleotide variant	NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter)	TTN	Likely pathogenic	2	179463645	179463645	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610352
Deletion	NM_001267550.2(TTN):c.87888del (p.Phe29297fs)	TTN	Likely pathogenic	2	179422101	179422101	AG	A	criteria provided, single submitter	ClinGen:CA16610357
Deletion	NM_001267550.2(TTN):c.83048del (p.Lys27683fs)	TTN	Likely pathogenic	2	179427811	179427811	CT	C	criteria provided, single submitter	ClinGen:CA16610362
single nucleotide variant	NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)	TTN	Pathogenic/Likely pathogenic	2	179440808	179440808	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610380
single nucleotide variant	NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)	TTN	Likely pathogenic	2	179474016	179474016	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610384
single nucleotide variant	NM_001267550.2(TTN):c.66769+2T>A	TTN	Pathogenic	2	179446224	179446224	A	T	criteria provided, single submitter	ClinGen:CA16610389