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
Deletion	NM_001267550.2(TTN):c.72873del (p.His24291fs)	TTN	Likely pathogenic	2	179437986	179437986	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter)	TTN	Likely pathogenic	2	179436818	179436818	G	A	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)	TTN	Likely pathogenic	2	179433713	179433714	A	AG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter)	TTN	Likely pathogenic	2	179433611	179433611	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter)	TTN	Likely pathogenic	2	179432610	179432610	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter)	TTN	Likely pathogenic	2	179431320	179431320	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter)	TTN	Likely pathogenic	2	179430312	179430312	A	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs)	TTN	Likely pathogenic	2	179430117	179430123	TGACCCAA	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.81323del (p.His27108fs)	TTN	Likely pathogenic	2	179429536	179429536	AT	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.81718del (p.Arg27240fs)	TTN	Likely pathogenic	2	179429141	179429141	CT	C	criteria provided, single submitter	-