"Blueprint Genetics"[submitter] AND "LOC126806423"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222869	NM_001267550.2(TTN):c.67637-2A>G	LOC126806423, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 180573	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	LOC126806423, TTN +1 more (R22499* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GPathogenic/Likely pathogenic