ClinVar for MedGen (Select 815852) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692342	NM_020117.11(LARS1):c.1094C>G (p.Pro365Arg)	LARS1 (P311R +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GUncertain significance
Select item 2690634	NM_020117.11(LARS1):c.2781del (p.Lys927fs)	LARS1 (K873fs +3 more)	Deletion (frameshift variant)	Infantile liver failure syndrome 1	GLikely pathogenic
Select item 1702970	NM_020117.11(LARS1):c.903del (p.Gln302fs)	LARS1 (Q248fs +3 more)	Deletion (frameshift variant)	Infantile liver failure syndrome 1	GUncertain significance
Select item 1699493	NM_020117.11(LARS1):c.554C>T (p.Pro185Leu)	LARS1 (P131L +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GLikely pathogenic
Select item 1048520	NM_020117.11(LARS1):c.2504A>G (p.Tyr835Cys)	LARS1 (Y781C +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GPathogenic
Select item 1029738	NM_020117.11(LARS1):c.970T>G (p.Phe324Val)	LARS1 (F270V +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GUncertain significance
Select item 1029737	NM_020117.11(LARS1):c.185G>A (p.Gly62Glu)	LARS1 (G62E +1 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GUncertain significance
Select item 1028641	NM_020117.11(LARS1):c.1439A>G (p.Asp480Gly)	LARS1 (D434G +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GUncertain significance
Select item 561050	NM_020117.11(LARS1):c.242G>T (p.Gly81Val)	LARS1 (G81V +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile liver failure syndrome 1	GUncertain significance
Select item 431849	NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)	LARS1 (V431D +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 388896	NM_020117.11(LARS1):c.1284G>A (p.Pro428=)	LARS1	Single nucleotide variant (synonymous variant)	Infantile liver failure syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 214577	NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)	LARS1 (R1105* +3 more)	Single nucleotide variant (nonsense)	Infantile liver failure syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 214565	NM_020117.11(LARS1):c.109T>G (p.Leu37Val)	LARS1, LOC129389388 (L37V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 138089	NM_020117.11(LARS1):c.2212+13T>C	LARS1	Single nucleotide variant (intron variant)	Infantile liver failure syndrome 1 +2 more	GBenign/Likely benign
Select item 138077	NM_020117.11(LARS1):c.245A>G (p.Lys82Arg)	LARS1 (K82R +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile liver failure syndrome 1 +2 more	GBenign/Likely benign
Select item 65476	NM_020117.11(LARS1):c.1118A>G (p.Tyr373Cys)	LARS1 (Y373C +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GPathogenic