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.88895-1G>A	TTN	Likely pathogenic	2	179418944	179418944	C	T	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.48542dup (p.Asn16181fs)	TTN	Likely pathogenic	2	179480129	179480130	A	AT	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)	TTN	Pathogenic	2	179475008	179475009	T	TA	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs)	TTN	Likely pathogenic	2	179474050	179474051	CCT	C	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.53703dup (p.Arg17902fs)	TTN	Likely pathogenic	2	179470318	179470319	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter)	TTN	Likely pathogenic	2	179469027	179469027	C	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs)	TTN	Likely pathogenic	2	179463944	179463956	GATTCGGAATACAT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter)	TTN	Likely pathogenic	2	179463654	179463654	G	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.58620del (p.Val19541fs)	TTN	Likely pathogenic	2	179458407	179458407	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter)	TTN	Likely pathogenic	2	179455128	179455128	C	A	criteria provided, single submitter	-