"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226681	NM_005548.3(KARS1):c.1674C>T (p.Leu558=)	KARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 439842	NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)	KARS1 (R421Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate B +4 more	GConflicting classifications of pathogenicity
Select item 420262	NM_005548.3(KARS1):c.717T>G (p.Phe239Leu)	KARS1 (F267L +2 more)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GConflicting classifications of pathogenicity
Select item 227454	NM_005548.3(KARS1):c.612A>G (p.Thr204=)	KARS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1205860	NM_005548.3(KARS1):c.223-23dup	KARS1	Duplication (intron variant)	not provided	GBenign
Select item 218513	NM_005548.3(KARS1):c.223-6del	KARS1	Deletion (intron variant)	not specified +1 more	GBenign
Select item 320639	NM_005548.3(KARS1):c.222+10C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity

ClinVar