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.94667G>A (p.Trp31556Ter)	TTN	Likely pathogenic	2	179411488	179411488	C	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.90562_90566del (p.Thr30188fs)	TTN	Likely pathogenic	2	179417061	179417065	CAAAGT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.90544A>T (p.Lys30182Ter)	TTN	Likely pathogenic	2	179417083	179417083	T	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.89553del (p.Ala29853fs)	TTN	Likely pathogenic	2	179418074	179418074	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.88848_88864del (p.Ile29616_Gly29617insTer)	TTN	Likely pathogenic	2	179419210	179419226	GATTCCAGTGGCTCGCCA	G	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.86642del (p.His28881fs)	TTN	Likely pathogenic	2	179424217	179424217	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)	TTN	Likely pathogenic	2	179425146	179425146	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs)	TTN	Likely pathogenic	2	179425207	179425219	TGGAACTGTAAATG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.80679del (p.Gly26894fs)	TTN	Likely pathogenic	2	179430180	179430180	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.72227T>A (p.Leu24076Ter)	TTN	Likely pathogenic	2	179438632	179438632	A	T	criteria provided, single submitter	-