17095[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1294389	NM_015340.4(LARS2):c.-109G>A	LARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 508205	NM_015340.4(LARS2):c.-103C>G	LARS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512989	NM_015340.4(LARS2):c.-88+6C>A	LARS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 508304	NM_015340.4(LARS2):c.-88+10C>G	LARS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1248620	NM_015340.4(LARS2):c.-88+73C>G	LARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196616	NM_015340.4(LARS2):c.-87-100C>A	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380550	NM_015340.4(LARS2):c.-36G>A	LARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1207282	NM_015340.4(LARS2):c.-22+127C>G	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218056	NM_015340.4(LARS2):c.-21-243T>C	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179492	NM_015340.4(LARS2):c.-21-76A>T	LARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514808	NM_015340.4(LARS2):c.-21-13C>T	LARS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 226702	NM_015340.4(LARS2):c.22T>C (p.Leu8=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1185680	NM_015340.4(LARS2):c.41_42del (p.Leu14fs)	LARS2 (L14fs)	Deletion (frameshift variant)	Perrault syndrome 4	GPathogenic
Select item 2843594	NM_015340.4(LARS2):c.59A>G (p.Asn20Ser)	LARS2 (N20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675914	NM_015340.4(LARS2):c.89G>A (p.Arg30Lys)	LARS2 (R30K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181178	NM_015340.4(LARS2):c.98T>C (p.Ile33Thr)	LARS2 (I33T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967199	NM_015340.4(LARS2):c.102C>T (p.Pro34=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186380	NM_015340.4(LARS2):c.103G>A (p.Gly35Arg)	LARS2 (G35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706891	NM_015340.4(LARS2):c.115del (p.Ser39fs)	LARS2 (S39fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1312582	NM_015340.4(LARS2):c.125G>A (p.Ser42Asn)	LARS2 (S42N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914230	NM_015340.4(LARS2):c.135A>T (p.Gly45=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2033454	NM_015340.4(LARS2):c.146_147del (p.Lys49fs)	LARS2 (K49fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1502271	NM_015340.4(LARS2):c.145A>G (p.Lys49Glu)	LARS2 (K49E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166349	NM_015340.4(LARS2):c.148G>A (p.Glu50Lys)	LARS2 (E50K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 226695	NM_015340.4(LARS2):c.157T>C (p.Leu53=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 505259	NM_015340.4(LARS2):c.180G>C (p.Glu60Asp)	LARS2 (E60D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1407413	NM_015340.4(LARS2):c.186G>A (p.Trp62Ter)	LARS2 (W62*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1203650	NM_015340.4(LARS2):c.189G>A (p.Trp63Ter)	LARS2 (W63*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2690635	NM_015340.4(LARS2):c.196C>T (p.Arg66Ter)	LARS2 (R66*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2904833	NM_015340.4(LARS2):c.215C>T (p.Ser72Phe)	LARS2 (S72F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 385413	NM_015340.4(LARS2):c.219A>G (p.Lys73=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2084373	NM_015340.4(LARS2):c.220A>G (p.Ile74Val)	LARS2 (I74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371149	NM_015340.4(LARS2):c.230C>A (p.Ala77Asp)	LARS2 (A77D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985087	NM_015340.4(LARS2):c.234+10C>T	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902995	NM_015340.4(LARS2):c.234+18T>G	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916579	NM_015340.4(LARS2):c.234+20C>T	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181365	NM_015340.4(LARS2):c.234+46A>G	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684236	NM_015340.4(LARS2):c.234+294G>A	LARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202836	NM_015340.4(LARS2):c.235-340T>G	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188599	NM_015340.4(LARS2):c.235-269del	LARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 391682	NM_015340.4(LARS2):c.235-19C>A	LARS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 390281	NM_015340.4(LARS2):c.235-12G>A	LARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2995982	NM_015340.4(LARS2):c.235-9C>T	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214613	NM_015340.4(LARS2):c.235-7T>G	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2161184	NM_015340.4(LARS2):c.239C>T (p.Ser80Leu)	LARS2 (S80L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 227492	NM_015340.4(LARS2):c.255C>T (p.Tyr85=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1414233	NM_015340.4(LARS2):c.256G>A (p.Val86Met)	LARS2 (V86M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1369956	NM_015340.4(LARS2):c.275A>T (p.Tyr92Phe)	LARS2 (Y92F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125483	NM_015340.4(LARS2):c.276T>A (p.Tyr92Ter)	LARS2 (Y92*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2057216	NM_015340.4(LARS2):c.277C>T (p.Pro93Ser)	LARS2 (P93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036829	NM_015340.4(LARS2):c.300C>T (p.Gly100=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 691525	NM_015340.4(LARS2):c.308G>A (p.Arg103His)	LARS2 (R103H)	Single nucleotide variant (missense variant)	Inborn mitochondrial myopathy	GLikely pathogenic
Select item 1985246	NM_015340.4(LARS2):c.315C>T (p.Tyr105=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795746	NM_015340.4(LARS2):c.317C>A (p.Thr106Asn)	LARS2 (T106N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031905	NM_015340.4(LARS2):c.317C>T (p.Thr106Ile)	LARS2 (T106I)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GUncertain significance
Select item 382971	NM_015340.4(LARS2):c.324C>T (p.Ser108=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 929744	NM_015340.4(LARS2):c.326A>G (p.Asp109Gly)	LARS2 (D109G)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 1924485	NM_015340.4(LARS2):c.331A>G (p.Ile111Val)	LARS2 (I111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667119	NM_015340.4(LARS2):c.338G>A (p.Arg113Gln)	LARS2 (R113Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1903970	NM_015340.4(LARS2):c.344A>G (p.Gln115Arg)	LARS2 (Q115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203769	NM_015340.4(LARS2):c.351G>C (p.Met117Ile)	LARS2 (M117I)	Single nucleotide variant (missense variant)	Perrault syndrome	Gnot provided
Select item 2502766	NM_015340.4(LARS2):c.359T>C (p.Met120Thr)	LARS2 (M120T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1288203	NM_015340.4(LARS2):c.362A>G (p.Gln121Arg)	LARS2 (Q121R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1640165	NM_015340.4(LARS2):c.363+8C>T	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 518008	NM_015340.4(LARS2):c.363+13G>A	LARS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1913186	NM_015340.4(LARS2):c.363+14C>T	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262255	NM_015340.4(LARS2):c.363+42C>T	LARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671249	NM_015340.4(LARS2):c.364-241A>G	LARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669493	NM_015340.4(LARS2):c.364-223C>T	LARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2312663	NM_015340.4(LARS2):c.364G>A (p.Val122Ile)	LARS2 (V122I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 431125	NM_015340.4(LARS2):c.371A>T (p.Asn124Ile)	LARS2 (N124I)	Single nucleotide variant (missense variant)	Perrault syndrome 4	GPathogenic
Select item 2859976	NM_015340.4(LARS2):c.380del (p.Gly127fs)	LARS2 (G127fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 691521	NM_015340.4(LARS2):c.388G>A (p.Ala130Thr)	LARS2 (A130T)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GLikely pathogenic
Select item 2870991	NM_015340.4(LARS2):c.393T>C (p.Phe131=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081860	NM_015340.4(LARS2):c.414C>T (p.Ala138=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 505536	NM_015340.4(LARS2):c.416C>T (p.Ala139Val)	LARS2 (A139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1922515	NM_015340.4(LARS2):c.420C>A (p.Val140=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110117	NM_015340.4(LARS2):c.421G>A (p.Glu141Lys)	LARS2 (E141K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308013	NM_015340.4(LARS2):c.424A>G (p.Arg142Gly)	LARS2 (R142G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792739	NM_015340.4(LARS2):c.428A>G (p.Asn143Ser)	LARS2 (N143S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844107	NM_015340.4(LARS2):c.435T>C (p.His145=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 691523	NM_015340.4(LARS2):c.440A>C (p.Gln147Pro)	LARS2 (Q147P)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +1 more	GLikely pathogenic
Select item 2962039	NM_015340.4(LARS2):c.441A>G (p.Gln147=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705792	NM_015340.4(LARS2):c.444T>C (p.Ser148=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902913	NM_015340.4(LARS2):c.455+13A>G	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684161	NM_015340.4(LARS2):c.455+222T>G	LARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684169	NM_015340.4(LARS2):c.456-247T>C	LARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298144	NM_015340.4(LARS2):c.456-57dup	LARS2	Duplication (intron variant)	not provided	GBenign
Select item 2986294	NM_015340.4(LARS2):c.456-16T>C	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2025840	NM_015340.4(LARS2):c.456-2A>G	LARS2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 191173	NM_015340.4(LARS2):c.457A>C (p.Asn153His)	LARS2 (N153H)	Single nucleotide variant (missense variant)	Perrault syndrome 4 +2 more	GPathogenic/Likely pathogenic
Select item 2313241	NM_015340.4(LARS2):c.472A>G (p.Arg158Gly)	LARS2 (R158G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1970089	NM_015340.4(LARS2):c.478C>T (p.Gln160Ter)	LARS2 (Q160*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1351572	NM_015340.4(LARS2):c.487C>T (p.Arg163Cys)	LARS2 (R163C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504793	NM_015340.4(LARS2):c.488G>A (p.Arg163His)	LARS2 (R163H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2896271	NM_015340.4(LARS2):c.507C>T (p.Ser169=)	LARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620887	NM_015340.4(LARS2):c.511G>T (p.Asp171Tyr)	LARS2 (D171Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2918031	NM_015340.4(LARS2):c.516+8A>C	LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985223	NM_015340.4(LARS2):c.516+17dup	LARS2	Duplication (intron variant)	not provided	GBenign
Select item 676311	NM_015340.4(LARS2):c.516+138A>G	LARS2	Single nucleotide variant (intron variant)	not provided	GBenign

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