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.12757C>T (p.Gln4253Ter)	TTN	Likely pathogenic	2	179605203	179605203	G	A	criteria provided, single submitter	ClinGen:CA353074
Deletion	NM_001267550.2(TTN):c.14056del (p.Thr4686fs)	TTN	Likely pathogenic	2	179603904	179603904	GT	G	criteria provided, single submitter	ClinGen:CA353330
single nucleotide variant	NM_001267550.2(TTN):c.15496+1G>T	TTN	Pathogenic/Likely pathogenic	2	179599054	179599054	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610517
single nucleotide variant	NM_001267550.2(TTN):c.15496+1G>A	TTN	Pathogenic/Likely pathogenic	2	179599054	179599054	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA138728
single nucleotide variant	NM_001267550.2(TTN):c.20836+1G>A	TTN	Pathogenic	2	179590094	179590094	C	T	criteria provided, single submitter	ClinGen:CA349540437
single nucleotide variant	NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)	TTN	Likely pathogenic	2	179587034	179587034	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter)	TTN	Likely pathogenic	2	179585773	179585773	G	C	criteria provided, single submitter	ClinGen:CA349517599
Indel	NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs)	TTN	Pathogenic	2	179584315	179584316	GC	T	criteria provided, single submitter	ClinGen:CA207334
single nucleotide variant	NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter)	TTN	Likely pathogenic	2	179575962	179575962	C	T	criteria provided, single submitter	ClinGen:CA16043802
Deletion	NM_001267550.2(TTN):c.29062del (p.Ala9688fs)	TTN	Likely pathogenic	2	179571661	179571661	GC	G	criteria provided, single submitter	ClinGen:CA353020