ClinVar for MedGen (Select 1645614) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339818	NM_001083614.2(EARS2):c.428C>G (p.Ser143Ter)	EARS2 (S143*)	Single nucleotide variant (nonsense +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GPathogenic
Select item 2671952	NM_001083614.2(EARS2):c.1015G>T (p.Val339Phe)	EARS2 (V339F)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 2627742	NM_001083614.2(EARS2):c.947C>G (p.Ser316Ter)	EARS2 (S316*)	Single nucleotide variant (nonsense +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GLikely pathogenic
Select item 2440017	NM_001083614.2(EARS2):c.451A>T (p.Lys151Ter)	EARS2 (K151*)	Single nucleotide variant (nonsense +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GLikely pathogenic
Select item 1992179	NM_001083614.2(EARS2):c.1488+16G>A	EARS2 (G502R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1978072	NM_001083614.2(EARS2):c.1465C>T (p.Arg489Trp)	EARS2 (R489W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1805695	NM_001083614.2(EARS2):c.1488+61del	EARS2 (H517fs)	Deletion (frameshift variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 1804944	NM_001083614.2(EARS2):c.296G>C (p.Gly99Ala)	EARS2 (G99A)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 1803260	NM_001083614.2(EARS2):c.236A>T (p.Asp79Val)	EARS2 (D79V)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 1705024	NM_001083614.2(EARS2):c.376C>T (p.Gln126Ter)	EARS2 (Q126*)	Single nucleotide variant (nonsense +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GPathogenic
Select item 1452135	NM_001083614.2(EARS2):c.417_418del (p.Cys140fs)	EARS2 (C140fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1384647	NM_001083614.2(EARS2):c.244C>T (p.Arg82Cys)	EARS2 (R82C)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GUncertain significance
Select item 1342069	NM_001083614.2(EARS2):c.1235G>A (p.Arg412His)	EARS2 (R412H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1254352	NM_001083614.2(EARS2):c.569G>A (p.Arg190His)	EARS2 (R190H)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1033677	NM_001083614.2(EARS2):c.745G>C (p.Glu249Gln)	EARS2 (E249Q)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 1030116	NM_001083614.2(EARS2):c.913G>A (p.Asp305Asn)	EARS2 (D305N)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GUncertain significance
Select item 1030115	NM_001083614.2(EARS2):c.43T>C (p.Ser15Pro)	LOC130058664, EARS2 (S15P)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 1030114	NM_001083614.2(EARS2):c.1351G>A (p.Gly451Arg)	EARS2 (G451R)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 973189	NM_001083614.2(EARS2):c.1283del (p.Pro428fs)	EARS2 (P428fs)	Deletion (frameshift variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GPathogenic
Select item 973188	NM_001083614.2(EARS2):c.319C>T (p.Arg107Cys)	EARS2 (R107C)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GLikely pathogenic
Select item 973075	NM_001083614.2(EARS2):c.164G>A (p.Arg55His)	EARS2 (R55H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 888297	NM_001083614.2(EARS2):c.994A>C (p.Thr332Pro)	EARS2 (T332P)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 888234	NM_001083614.2(EARS2):c.*755C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 888233	NM_001083614.2(EARS2):c.*824G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 888232	NM_001083614.2(EARS2):c.*936T>C	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 888231	NM_001083614.2(EARS2):c.*966G>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 888230	NM_001083614.2(EARS2):c.*1027G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 887097	NM_001083614.1(EARS2):c.-34C>G	EARS2 (A103P)	Single nucleotide variant (missense variant)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GLikely benign
Select item 887096	NM_001083614.2(EARS2):c.102G>T (p.Gly34=)	EARS2, LOC130058664	Single nucleotide variant (synonymous variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 887095	NM_001083614.2(EARS2):c.197A>T (p.Lys66Met)	EARS2 (K66M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 887028	NM_001083614.2(EARS2):c.1193A>G (p.Tyr398Cys)	EARS2 (Y398C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 886968	NM_001083614.2(EARS2):c.*1082T>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 886967	NM_001083614.2(EARS2):c.*1362T>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 886094	NM_001083614.2(EARS2):c.263C>T (p.Ala88Val)	EARS2 (A88V)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 886093	NM_001083614.2(EARS2):c.403G>A (p.Gly135Arg)	EARS2 (G135R)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GUncertain significance
Select item 886035	NM_001083614.2(EARS2):c.1491A>G (p.Gln497=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 885965	NM_001083614.2(EARS2):c.*1647C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 885192	NM_001083614.2(EARS2):c.851A>G (p.Lys284Arg)	EARS2 (K284R)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 885191	NM_001083614.2(EARS2):c.873C>T (p.Asp291=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885123	NM_001083614.2(EARS2):c.*91C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GLikely benign
Select item 885122	NM_001083614.2(EARS2):c.*180A>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 885121	NM_001083614.2(EARS2):c.*555G>A	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GLikely benign
Select item 885120	NM_001083614.2(EARS2):c.*637A>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 885047	NM_001083614.2(EARS2):c.*1902A>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 885046	NM_001083614.2(EARS2):c.*1904A>G	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 870561	NM_001083614.2(EARS2):c.1234C>T (p.Arg412Cys)	EARS2 (R412C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 803228	NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter)	EARS2 (Y228*)	Single nucleotide variant (nonsense +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GPathogenic
Select item 803227	NM_001083614.2(EARS2):c.1243G>A (p.Asp415Asn)	EARS2 (D415N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 733378	NM_001083614.2(EARS2):c.246C>T (p.Arg82=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 671646	NM_001083614.2(EARS2):c.1488+34G>A	EARS2 (E508K)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GBenign
Select item 671552	NM_001083614.2(EARS2):c.1352+25G>A	EARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 559206	NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile)	EARS2 (S70I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 522736	NM_001083614.2(EARS2):c.790C>G (p.Leu264Val)	EARS2 (L264V)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 502130	NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser)	EARS2 (G224S)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +2 more	GConflicting classifications of pathogenicity
Select item 449533	NM_001083614.2(EARS2):c.320G>A (p.Arg107His)	EARS2 (R107H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 440959	NM_001083614.2(EARS2):c.334G>C (p.Ala112Pro)	EARS2 (A112P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 429209	NM_001083614.2(EARS2):c.1081C>T (p.Arg361Trp)	EARS2 (R361W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 425101	NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys)	EARS2 (E349K)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +2 more	GConflicting classifications of pathogenicity
Select item 419276	NM_001083614.2(EARS2):c.212del (p.Phe71fs)	EARS2 (F71fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 380296	NM_001083614.2(EARS2):c.813C>T (p.Phe271=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GBenign/Likely benign
Select item 380295	NM_001083614.2(EARS2):c.402C>T (p.Thr134=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +2 more	GBenign
Select item 318557	NM_001083614.1(EARS2):c.-19G>A	EARS2 (R98C)	Single nucleotide variant (5 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318556	NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu)	EARS2 (A88E)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318555	NM_001083614.2(EARS2):c.351A>G (p.Gln117=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GUncertain significance
Select item 318553	NM_001083614.2(EARS2):c.580G>A (p.Val194Met)	EARS2 (V194M)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GBenign
Select item 318552	NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn)	EARS2 (D223N)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318551	NM_001083614.2(EARS2):c.874G>A (p.Val292Ile)	EARS2 (V292I)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +2 more	GConflicting classifications of pathogenicity
Select item 318550	NM_001083614.2(EARS2):c.949G>T (p.Gly317Cys)	EARS2 (G317C)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318549	NM_001083614.2(EARS2):c.959-15C>T	EARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318547	NM_001083614.2(EARS2):c.1071G>A (p.Leu357=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GUncertain significance
Select item 318545	NM_001083614.2(EARS2):c.1317G>A (p.Ser439=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +2 more	GBenign/Likely benign
Select item 318544	NM_001083614.2(EARS2):c.1352G>T (p.Gly451Val)	EARS2 (G451V)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GUncertain significance
Select item 318542	NM_001083614.2(EARS2):c.1409A>G (p.Lys470Arg)	EARS2 (K470R)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318541	NM_001083614.2(EARS2):c.1488+15C>T	EARS2	Single nucleotide variant (synonymous variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318540	NM_001083614.2(EARS2):c.1489-14C>T	EARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318539	NM_001083614.2(EARS2):c.*12T>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GBenign
Select item 318538	NM_001083614.2(EARS2):c.*15G>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GLikely benign
Select item 318537	NM_001083614.2(EARS2):c.*155A>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318534	NM_001083614.2(EARS2):c.*400A>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GBenign
Select item 318533	NM_001083614.2(EARS2):c.*458C>T	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GLikely benign
Select item 318530	NM_001083614.2(EARS2):c.*713T>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318529	NM_001083614.2(EARS2):c.*715G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318528	NM_001083614.2(EARS2):c.*914T>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318527	NM_001083614.2(EARS2):c.*917C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318525	NM_001083614.2(EARS2):c.*1099A>G	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318524	NM_001083614.2(EARS2):c.*1138G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318523	NM_001083614.2(EARS2):c.*1233C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318522	NM_001083614.2(EARS2):c.*1327A>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GLikely benign
Select item 318521	NM_001083614.2(EARS2):c.*1388C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318520	NM_001083614.2(EARS2):c.*1408A>G	EARS2, GGA2	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318519	NM_001083614.2(EARS2):c.*1435C>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318518	NM_001083614.2(EARS2):c.*1443C>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GBenign
Select item 318517	NM_001083614.2(EARS2):c.*1498A>G	EARS2, GGA2	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GBenign
Select item 318516	NM_001083614.2(EARS2):c.*1594C>T	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 318515	NM_001083614.2(EARS2):c.*1720G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318514	NM_001083614.2(EARS2):c.*1808G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318513	NM_001083614.2(EARS2):c.*1809T>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318511	NM_001083614.2(EARS2):c.*2105C>G	EARS2, GGA2	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GLikely benign
Select item 318510	NM_001083614.2(EARS2):c.*2156T>G	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GBenign
Select item 318509	NM_001083614.2(EARS2):c.*2193A>G	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance

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