ClinVar for MedGen (Select 1779519) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362675	NM_005548.3(KARS1):c.533G>A (p.Arg178Gln)	KARS1 (R178Q +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GUncertain significance
Select item 3234876	NM_005548.3(KARS1):c.1486T>A (p.Cys496Ser)	KARS1, LOC126862402 (C340S +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GUncertain significance
Select item 2674620	NM_005548.3(KARS1):c.953T>C (p.Ile318Thr)	KARS1 (I162T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2576966	NM_005548.3(KARS1):c.1076C>T (p.Ser359Leu)	KARS1 (S203L +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GUncertain significance
Select item 2576965	NM_005548.3(KARS1):c.1328T>C (p.Leu443Pro)	KARS1 (L287P +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GLikely pathogenic
Select item 2576964	NM_005548.3(KARS1):c.1601G>A (p.Cys534Tyr)	KARS1 (C378Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2574034	NM_005548.3(KARS1):c.421A>C (p.Lys141Gln)	KARS1 (K141Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 89 +1 more	GUncertain significance
Select item 2499553	NM_005548.3(KARS1):c.1514C>G (p.Pro505Arg)	KARS1 (P349R +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GLikely pathogenic
Select item 2429472	NM_005548.3(KARS1):c.805C>G (p.Pro269Ala)	KARS1 (P113A +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GUncertain significance
Select item 1682455	NM_005548.3(KARS1):c.85G>C (p.Ala29Pro)	KARS1 (A29P +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness +2 more	GConflicting classifications of pathogenicity
Select item 1679325	NM_005548.3(KARS1):c.1181T>A (p.Ile394Asn)	KARS1 (I238N +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GUncertain significance
Select item 997977	NM_005548.3(KARS1):c.1573G>A (p.Glu525Lys)	KARS1 (E525K +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GPathogenic
Select item 997976	NM_005548.3(KARS1):c.1312C>T (p.Arg438Trp)	KARS1 (R438W +2 more)	Single nucleotide variant (missense variant)	KARS1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 985748	NM_005548.3(KARS1):c.1676C>T (p.Thr559Met)	KARS1 (T403M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 778613	NM_005548.3(KARS1):c.223-8_223-6del	KARS1	Deletion (intron variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness +4 more	GBenign/Likely benign
Select item 547985	NM_005548.3(KARS1):c.690A>T (p.Arg230Ser)	KARS1 (R258S +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness +2 more	GConflicting classifications of pathogenicity
Select item 228758	NM_005548.3(KARS1):c.274G>C (p.Glu92Gln)	KARS1 (E120Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 89 +5 more	GUncertain significance
Select item 224983	NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)	KARS1 (P200L +2 more)	Single nucleotide variant (missense variant)	KARS-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 60752	NM_005548.3(KARS1):c.433T>C (p.Tyr145His)	KARS1 (Y173H +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness +1 more	GConflicting classifications of pathogenicity