"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "EARS2"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1955498	NM_001083614.2(EARS2):c.1570T>G (p.Ter524Glu)	EARS2	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 1928291	NM_001083614.2(EARS2):c.1553A>G (p.Gln518Arg)	EARS2 (Q518R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1348760	NM_001083614.2(EARS2):c.1546C>G (p.Arg516Gly)	EARS2 (R516G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 720872	NM_001083614.2(EARS2):c.1533G>A (p.Lys511=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2009700	NM_001083614.2(EARS2):c.1519G>C (p.Ala507Pro)	EARS2 (A507P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000979	NM_001083614.2(EARS2):c.1503A>G (p.Val501=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2126018	NM_001083614.2(EARS2):c.1488G>T (p.Gln496His)	EARS2 (Q496H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1971989	NM_001083614.2(EARS2):c.1434C>G (p.Gly478=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2137797	NM_001083614.2(EARS2):c.1413del (p.Lys471fs)	EARS2 (K471fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 137187	NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr)	EARS2 (K471T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1466156	NM_001083614.2(EARS2):c.1400G>C (p.Gly467Ala)	EARS2 (G467A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303708	NM_001083614.2(EARS2):c.1394T>C (p.Leu465Pro)	EARS2 (L465P)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2176887	NM_001083614.2(EARS2):c.1393C>T (p.Leu465=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1423747	NM_001083614.2(EARS2):c.1369_1370delinsGA (p.Ser457Asp)	EARS2 (S457D)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 137186	NM_001083614.2(EARS2):c.1369A>G (p.Ser457Gly)	EARS2 (S457G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1902325	NM_001083614.2(EARS2):c.1353-11TCT[2]	EARS2	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1613796	NM_001083614.2(EARS2):c.1352+15G>T	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646630	NM_001083614.2(EARS2):c.1352+11G>T	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1442988	NM_001083614.2(EARS2):c.1351G>T (p.Gly451Trp)	EARS2 (G451W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 725040	NM_001083614.2(EARS2):c.1338C>T (p.Ala446=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2176866	NM_001083614.2(EARS2):c.1326G>A (p.Val442=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2420469	NM_001083614.2(EARS2):c.1316C>T (p.Ser439Leu)	EARS2 (S439L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1662499	NM_001083614.2(EARS2):c.1292G>C (p.Gly431Ala)	EARS2 (G431A)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2179920	NM_001083614.2(EARS2):c.1287A>T (p.Ala429=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 692301	NM_001083614.2(EARS2):c.1277_1279dup (p.Thr426_Arg427insPro)	EARS2	Duplication (inframe_insertion +1 more)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 2052934	NM_001083614.2(EARS2):c.1270_1277del (p.Leu424fs)	EARS2 (L424fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2133635	NM_001083614.2(EARS2):c.1249G>A (p.Val417Met)	EARS2 (V417M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1454232	NM_001083614.2(EARS2):c.1240C>T (p.Gln414Ter)	EARS2 (Q414*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 1470829	NM_001083614.2(EARS2):c.1231T>G (p.Cys411Gly)	EARS2 (C411G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 761550	NM_001083614.2(EARS2):c.1215G>A (p.Leu405=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 756076	NM_001083614.2(EARS2):c.1206C>T (p.Ile402=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2080067	NM_001083614.2(EARS2):c.1195G>T (p.Val399Leu)	EARS2 (V399L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1505095	NM_001083614.2(EARS2):c.1195G>A (p.Val399Met)	EARS2 (V399M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1899598	NM_001083614.2(EARS2):c.1194C>T (p.Tyr398=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2988193	NM_001083614.2(EARS2):c.1159C>T (p.Gln387Ter)	EARS2 (Q387*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1438113	NM_001083614.2(EARS2):c.1148C>A (p.Ala383Asp)	EARS2 (A383D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940865	NM_001083614.2(EARS2):c.1140G>A (p.Val380=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1619517	NM_001083614.2(EARS2):c.1122G>A (p.Gly374=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2175112	NM_001083614.2(EARS2):c.1107G>T (p.Arg369Ser)	EARS2 (R369S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1418329	NM_001083614.2(EARS2):c.1098G>C (p.Glu366Asp)	EARS2 (E366D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1442926	NM_001083614.2(EARS2):c.1082G>A (p.Arg361Gln)	EARS2 (R361Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 756906	NM_001083614.2(EARS2):c.1068-4G>A	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137185	NM_001083614.2(EARS2):c.1068-5C>T	EARS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1377301	NM_001083614.2(EARS2):c.1068-7T>G	EARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1438575	NM_001083614.2(EARS2):c.1046A>T (p.Glu349Val)	EARS2 (E349V)	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 1396079	NM_001083614.2(EARS2):c.1024C>T (p.His342Tyr)	EARS2 (H342Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1973585	NM_001083614.2(EARS2):c.1015G>A (p.Val339Ile)	EARS2 (V339I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2078546	NM_001083614.2(EARS2):c.1004A>G (p.Asn335Ser)	EARS2 (N335S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 137184	NM_001083614.2(EARS2):c.984G>A (p.Pro328=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 2190184	NM_001083614.2(EARS2):c.983C>T (p.Pro328Leu)	EARS2 (P328L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1947420	NM_001083614.2(EARS2):c.959-17dup	EARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 2014473	NM_001083614.2(EARS2):c.959-17G>A	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513161	NM_001083614.2(EARS2):c.958+4C>T	EARS2	Single nucleotide variant (intron variant)	not provided +1 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 2083151	NM_001083614.2(EARS2):c.920T>C (p.Leu307Ser)	EARS2 (L307S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1462349	NM_001083614.2(EARS2):c.917C>G (p.Ser306Cys)	EARS2 (S306C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 739446	NM_001083614.2(EARS2):c.912C>T (p.Pro304=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1958756	NM_001083614.2(EARS2):c.874G>T (p.Val292Phe)	EARS2 (V292F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1935767	NM_001083614.2(EARS2):c.863G>C (p.Arg288Thr)	EARS2 (R288T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 734938	NM_001083614.2(EARS2):c.861G>A (p.Lys287=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1353543	NM_001083614.2(EARS2):c.857C>G (p.Ser286Cys)	EARS2 (S286C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1449994	NM_001083614.2(EARS2):c.820C>G (p.Leu274Val)	EARS2 (L274V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1513799	NM_001083614.2(EARS2):c.814G>T (p.Ala272Ser)	EARS2 (A272S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 380296	NM_001083614.2(EARS2):c.813C>T (p.Phe271=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2806271	NM_001083614.2(EARS2):c.794G>C (p.Gly265Ala)	EARS2 (G265A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108394	NM_001083614.2(EARS2):c.783C>T (p.Tyr261=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000855	NM_001083614.2(EARS2):c.777C>T (p.Leu259=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2809305	NM_001083614.2(EARS2):c.768G>A (p.Lys256=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1663857	NM_001083614.2(EARS2):c.729C>T (p.His243=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 741927	NM_001083614.2(EARS2):c.705C>T (p.Asp235=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 757111	NM_001083614.2(EARS2):c.699G>T (p.Val233=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2062818	NM_001083614.2(EARS2):c.697G>T (p.Val233Leu)	EARS2 (V233L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 502130	NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser)	EARS2 (G224S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 725041	NM_001083614.2(EARS2):c.642G>A (p.Glu214=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 758199	NM_001083614.2(EARS2):c.633C>T (p.Ala211=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 39790	NM_001083614.2(EARS2):c.610G>A (p.Gly204Ser)	EARS2 (G204S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 137183	NM_001083614.2(EARS2):c.606C>G (p.Val202=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +2 more	GBenign
Select item 1429093	NM_001083614.2(EARS2):c.596A>G (p.Gln199Arg)	EARS2 (Q199R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2186037	NM_001083614.2(EARS2):c.590C>T (p.Ala197Val)	EARS2 (A197V)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 1915919	NM_001083614.2(EARS2):c.563G>A (p.Arg188His)	EARS2 (R188H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 318554	NM_001083614.2(EARS2):c.558G>A (p.Ala186=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2111149	NM_001083614.2(EARS2):c.545A>G (p.Asp182Gly)	EARS2 (D182G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1349041	NM_001083614.2(EARS2):c.515A>G (p.Gln172Arg)	EARS2 (Q172R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077268	NM_001083614.2(EARS2):c.513C>T (p.Ser171=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 39792	NM_001083614.2(EARS2):c.500G>A (p.Cys167Tyr)	EARS2 (C167Y)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 808017	NM_001083614.2(EARS2):c.497G>A (p.Arg166Gln)	EARS2 (R166Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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