ClinVar for MedGen (Select 462701) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236113	NM_005548.3(KARS1):c.336T>G (p.Tyr112Ter)	KARS1 (Y112* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 89	GPathogenic
Select item 3112685	NM_005548.3(KARS1):c.944T>C (p.Val315Ala)	KARS1 (V343A +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 89 +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 1687372	NM_005548.3(KARS1):c.1513C>G (p.Pro505Ala)	KARS1 (P349A +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 89	GUncertain significance
Select item 1687365	NM_005548.3(KARS1):c.1357G>C (p.Glu453Gln)	KARS1, LOC126862402 (E297Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 89	GUncertain significance
Select item 1675188	NM_005548.3(KARS1):c.1696-2A>C	KARS1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 89	GPathogenic
Select item 1064651	NM_005548.3(KARS1):c.797T>C (p.Ile266Thr)	KARS1 (I110T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 89 +1 more	GUncertain significance
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 694746	NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)	KARS1, LOC126862402 (A526V +2 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +4 more	GConflicting classifications of pathogenicity
Select item 562001	NM_005548.3(KARS1):c.787T>G (p.Phe263Val)	KARS1 (F291V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437932	NM_005548.2(KARS1):c.[1430G>A];[1513C>T]			Leukoencephalopathy +1 more	GPathogenic
Select item 437931	NM_005548.3(KARS1):c.1430G>A (p.Arg477His)	LOC126862402, KARS1 (R477H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 89	GPathogenic
Select item 320626	NM_005548.3(KARS1):c.1695+5G>A	KARS1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 89	GLikely benign
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 226682	NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser)	KARS1 (T623S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 224983	NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)	KARS1 (P200L +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 60753	NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn)	KARS1 (D377N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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