"Ambry Genetics"[submitter] AND "LARS1"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3117911	NM_020117.11(LARS1):c.3425C>T (p.Ser1142Phe)	LARS1 (S1115F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117910	NM_020117.11(LARS1):c.3380G>A (p.Arg1127Gln)	LARS1 (R1081Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117909	NM_020117.11(LARS1):c.3311A>G (p.Asn1104Ser)	LARS1 (N1050S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117907	NM_020117.11(LARS1):c.3295C>T (p.Arg1099Cys)	LARS1 (R1072C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1200949	NM_020117.11(LARS1):c.3289A>G (p.Ile1097Val)	LARS1 (I1043V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2545411	NM_020117.11(LARS1):c.3288A>G (p.Ile1096Met)	LARS1 (I1096M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2182795	NM_020117.11(LARS1):c.3190G>C (p.Glu1064Gln)	LARS1 (E1010Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1707961	NM_020117.11(LARS1):c.3116A>G (p.Lys1039Arg)	LARS1 (K1012R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2623239	NM_020117.11(LARS1):c.3079C>G (p.Leu1027Val)	LARS1 (L1027V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495851	NM_020117.11(LARS1):c.3017G>A (p.Arg1006His)	LARS1 (R952H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117905	NM_020117.11(LARS1):c.3007A>T (p.Met1003Leu)	LARS1 (M1003L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117903	NM_020117.11(LARS1):c.2966T>C (p.Val989Ala)	LARS1 (V962A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 214567	NM_020117.11(LARS1):c.2915T>C (p.Ile972Thr)	LARS1 (I972T +3 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 3117902	NM_020117.11(LARS1):c.2906A>G (p.Asn969Ser)	LARS1 (N942S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 214566	NM_020117.11(LARS1):c.2885A>G (p.Asn962Ser)	LARS1 (N962S +3 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 3117900	NM_020117.11(LARS1):c.2880+5T>G	LARS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3117899	NM_020117.11(LARS1):c.2843A>G (p.Gln948Arg)	LARS1 (Q902R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117898	NM_020117.11(LARS1):c.2776G>A (p.Asp926Asn)	LARS1 (D872N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117897	NM_020117.11(LARS1):c.2747A>G (p.Tyr916Cys)	LARS1 (Y889C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 214563	NM_020117.11(LARS1):c.2666G>A (p.Gly889Asp)	LARS1 (G889D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3117896	NM_020117.11(LARS1):c.2648C>A (p.Ala883Asp)	LARS1 (A829D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537379	NM_020117.11(LARS1):c.2611T>G (p.Trp871Gly)	LARS1 (W825G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117895	NM_020117.11(LARS1):c.2549G>A (p.Arg850Gln)	LARS1 (R850Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 214576	NM_020117.11(LARS1):c.2539C>G (p.Leu847Val)	LARS1 (L847V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3117894	NM_020117.11(LARS1):c.2500A>T (p.Lys834Ter)	LARS1 (K834* +3 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 3117893	NM_020117.11(LARS1):c.2441A>C (p.Lys814Thr)	LARS1 (K768T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117892	NM_020117.11(LARS1):c.2297G>A (p.Arg766His)	LARS1 (R766H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552042	NM_020117.11(LARS1):c.2204C>T (p.Ser735Leu)	LARS1 (S708L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117891	NM_020117.11(LARS1):c.2105C>T (p.Thr702Ile)	LARS1 (T648I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117890	NM_020117.11(LARS1):c.2041C>A (p.His681Asn)	LARS1 (H654N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 214560	NM_020117.11(LARS1):c.2014G>A (p.Val672Ile)	LARS1 (V672I +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2477933	NM_020117.11(LARS1):c.1927G>A (p.Ala643Thr)	LARS1 (A643T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117888	NM_020117.11(LARS1):c.1840A>G (p.Asn614Asp)	LARS1 (N587D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117887	NM_020117.11(LARS1):c.1730A>C (p.Tyr577Ser)	LARS1 (Y523S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117886	NM_020117.11(LARS1):c.1517T>C (p.Ile506Thr)	LARS1 (I479T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117885	NM_020117.11(LARS1):c.1496T>C (p.Ile499Thr)	LARS1 (I499T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469044	NM_020117.11(LARS1):c.1370G>A (p.Arg457Gln)	LARS1 (R403Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049980	NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp)	LARS1 (R403W +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3117884	NM_020117.11(LARS1):c.1352T>C (p.Ile451Thr)	LARS1 (I397T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117883	NM_020117.11(LARS1):c.1264A>G (p.Met422Val)	LARS1 (M422V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533694	NM_020117.11(LARS1):c.1237C>T (p.Arg413Ter)	LARS1 (R367* +3 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 3117881	NM_020117.11(LARS1):c.1232C>T (p.Ala411Val)	LARS1 (A411V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117880	NM_020117.11(LARS1):c.1183G>C (p.Asp395His)	LARS1 (D341H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 506827	NM_020117.11(LARS1):c.1182C>T (p.Ser394=)	LARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 769663	NM_020117.11(LARS1):c.1154-5C>A	LARS1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3117916	NM_020117.11(LARS1):c.965A>G (p.Asp322Gly)	LARS1 (D295G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457702	NM_020117.11(LARS1):c.815T>G (p.Leu272Arg)	LARS1 (L218R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1939971	NM_020117.11(LARS1):c.727A>T (p.Lys243Ter)	LARS1 (K197* +3 more)	Single nucleotide variant (nonsense)	not specified +1 more	GPathogenic
Select item 3117914	NM_020117.11(LARS1):c.478A>G (p.Ile160Val)	LARS1 (I114V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117913	NM_020117.11(LARS1):c.476G>A (p.Gly159Asp)	LARS1 (G105D +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117912	NM_020117.11(LARS1):c.463A>G (p.Lys155Glu)	LARS1 (K101E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117908	NM_020117.11(LARS1):c.329T>G (p.Leu110Arg)	LARS1 (L83R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725674	NM_020117.11(LARS1):c.323T>C (p.Ile108Thr)	LARS1 (I108T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 3117904	NM_020117.11(LARS1):c.298T>A (p.Cys100Ser)	LARS1 (C46S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117901	NM_020117.11(LARS1):c.289A>G (p.Ile97Val)	LARS1 (I43V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117889	NM_020117.11(LARS1):c.191C>T (p.Thr64Met)	LARS1 (T10M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518909	NM_020117.11(LARS1):c.173G>T (p.Arg58Leu)	LARS1 (R58L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117882	NM_020117.11(LARS1):c.125+3G>T	LARS1, LOC129389388	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2552629	NM_020117.11(LARS1):c.103T>A (p.Ser35Thr)	LARS1, LOC129389388 (S35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1706954	NM_020117.11(LARS1):c.52A>G (p.Lys18Glu)	LARS1, LOC129389388 (K18E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3117915	NM_020117.11(LARS1):c.47T>C (p.Ile16Thr)	LARS1, LOC129389388 (I16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117906	NM_020117.11(LARS1):c.31G>A (p.Asp11Asn)	LARS1, LOC129389388 (D11N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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Items: 62