C1836150[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1057	NM_018122.5(DARS2):c.228-21_228-20delinsC	DARS2	Indel (intron variant)	not provided +14 more	GPathogenic
Select item 1062	NM_018122.5(DARS2):c.492+2T>C	DARS2	Single nucleotide variant (splice donor variant)	Gait ataxia +15 more	GPathogenic
Select item 373992	NM_014141.6(CNTNAP2):c.536A>G (p.Tyr179Cys)	CNTNAP2 (Y179C)	Single nucleotide variant (missense variant)	Focal-onset seizure +3 more	GLikely benign
Select item 523530	NM_020549.5(CHAT):c.403C>T (p.Pro135Ser)	CHAT (P135S +2 more)	Single nucleotide variant (missense variant)	Muscle weakness +5 more	GUncertain significance
Select item 523338	NM_000161.3(GCH1):c.655C>T (p.Gln219Ter)	GCH1 (Q219*)	Single nucleotide variant (nonsense +1 more)	Rigidity +5 more	GLikely pathogenic
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Myopathy caused by variation in FKRP +20 more	GPathogenic/Likely pathogenic

ClinVar