"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "KARS1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 320627	NM_005548.3(KARS1):c.1695+4C>T	KARS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2504075	NM_005548.3(KARS1):c.1657C>T (p.Arg553Ter)	KARS1 (R397* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 228757	NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)	LOC126862402, KARS1 (I523M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1682416	NM_005548.3(KARS1):c.1313G>A (p.Arg438Gln)	KARS1 (R282Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683792	NM_005548.3(KARS1):c.1271A>G (p.Asp424Gly)	KARS1 (D268G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163394	NM_005548.3(KARS1):c.1262A>G (p.Lys421Arg)	KARS1 (K265R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579723	NM_005548.3(KARS1):c.1078+5C>G	KARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1162789	NM_005548.3(KARS1):c.750C>G (p.Ile250Met)	KARS1 (I250M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420262	NM_005548.3(KARS1):c.717T>G (p.Phe239Leu)	KARS1 (F267L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 2579724	NM_005548.3(KARS1):c.670-1G>A	KARS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1162790	NM_005548.3(KARS1):c.299A>C (p.His100Pro)	KARS1 (H100P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3380401	NM_005548.3(KARS1):c.264G>C (p.Lys88Asn)	KARS1 (K116N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance