ClinVar for MedGen (Select 1645614) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26277421.	NM_001083614.2(EARS2):c.947C>G (p.Ser316Ter) GRCh37: Chr16:23546220 GRCh38: Chr16:23534899	EARS2	S316*	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely pathogenic (Nov 27, 2020)	no assertion criteria provided
Select item 24400172.	NM_001083614.2(EARS2):c.451A>T (p.Lys151Ter) GRCh37: Chr16:23555869 GRCh38: Chr16:23544548	EARS2	K151*	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 19921793.	NM_001083614.2(EARS2):c.1488+16G>A GRCh37: Chr16:23536549 GRCh38: Chr16:23525228	EARS2	G502R	not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Conflicting interpretations of pathogenicity (Feb 7, 2023)	criteria provided, conflicting interpretations
Select item 18056954.	NM_001083614.2(EARS2):c.1488+61del GRCh37: Chr16:23536504 GRCh38: Chr16:23525183	EARS2	H517fs	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 18049445.	NM_001083614.2(EARS2):c.296G>C (p.Gly99Ala) GRCh37: Chr16:23556024 GRCh38: Chr16:23544703	EARS2	G99A	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 18032606.	NM_001083614.2(EARS2):c.236A>T (p.Asp79Val) GRCh37: Chr16:23563529 GRCh38: Chr16:23552208	EARS2	D79V	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 17050247.	NM_001083614.2(EARS2):c.376C>T (p.Gln126Ter) GRCh37: Chr16:23555944 GRCh38: Chr16:23544623	EARS2	Q126*	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Pathogenic (Sep 2, 2020)	criteria provided, single submitter
Select item 13846478.	NM_001083614.2(EARS2):c.244C>T (p.Arg82Cys) GRCh37: Chr16:23563521 GRCh38: Chr16:23552200	EARS2	R82C	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12543529.	NM_001083614.2(EARS2):c.569G>A (p.Arg190His) GRCh37: Chr16:23546598 GRCh38: Chr16:23535277	EARS2	R190H	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Conflicting interpretations of pathogenicity (Apr 13, 2022)	criteria provided, conflicting interpretations
Select item 103367710.	NM_001083614.2(EARS2):c.745G>C (p.Glu249Gln) GRCh37: Chr16:23546422 GRCh38: Chr16:23535101	EARS2	E249Q	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Dec 19, 2018)	criteria provided, single submitter
Select item 103011611.	NM_001083614.2(EARS2):c.913G>A (p.Asp305Asn) GRCh37: Chr16:23546254 GRCh38: Chr16:23534933	EARS2	D305N	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Inborn genetic diseases	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103011512.	NM_001083614.2(EARS2):c.43T>C (p.Ser15Pro) GRCh37: Chr16:23568622 GRCh38: Chr16:23557301	LOC130058664, EARS2	S15P	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Apr 5, 2019)	criteria provided, single submitter
Select item 103011413.	NM_001083614.2(EARS2):c.1351G>A (p.Gly451Arg) GRCh37: Chr16:23540824 GRCh38: Chr16:23529503	EARS2	G451R	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Apr 19, 2019)	criteria provided, single submitter
Select item 97318914.	NM_001083614.2(EARS2):c.1283del (p.Pro428fs) GRCh37: Chr16:23540892 GRCh38: Chr16:23529571	EARS2	P428fs	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Pathogenic (Mar 30, 2020)	no assertion criteria provided
Select item 97318815.	NM_001083614.2(EARS2):c.319C>T (p.Arg107Cys) GRCh37: Chr16:23556001 GRCh38: Chr16:23544680	EARS2	R107C	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely pathogenic (Mar 30, 2020)	no assertion criteria provided
Select item 97307516.	NM_001083614.2(EARS2):c.164G>A (p.Arg55His) GRCh37: Chr16:23563601 GRCh38: Chr16:23552280	EARS2	R55H	not provided	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 88829717.	NM_001083614.2(EARS2):c.994A>C (p.Thr332Pro) GRCh37: Chr16:23544051 GRCh38: Chr16:23532730	EARS2	T332P	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88823418.	NM_001083614.2(EARS2):c.*755C>T GRCh37: Chr16:23534937 GRCh38: Chr16:23523616	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88823319.	NM_001083614.2(EARS2):c.*824G>A GRCh37: Chr16:23534868 GRCh38: Chr16:23523547	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88823220.	NM_001083614.2(EARS2):c.*936T>C GRCh37: Chr16:23534756 GRCh38: Chr16:23523435	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88823121.	NM_001083614.2(EARS2):c.*966G>C GRCh37: Chr16:23534726 GRCh38: Chr16:23523405	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88823022.	NM_001083614.2(EARS2):c.*1027G>A GRCh37: Chr16:23534665 GRCh38: Chr16:23523344	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88709723.	NM_019116.1(UBFD1):c.307G>C (p.Ala103Pro) GRCh37: Chr16:23568698 GRCh38: Chr16:23557377	EARS2	A103P	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88709624.	NM_001083614.2(EARS2):c.102G>T (p.Gly34=) GRCh37: Chr16:23568563 GRCh38: Chr16:23557242	EARS2, LOC130058664		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88709525.	NM_001083614.2(EARS2):c.197A>T (p.Lys66Met) GRCh37: Chr16:23563568 GRCh38: Chr16:23552247	EARS2	K66M	not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Oct 7, 2020)	criteria provided, multiple submitters, no conflicts
Select item 88702826.	NM_001083614.2(EARS2):c.1193A>G (p.Tyr398Cys) GRCh37: Chr16:23541093 GRCh38: Chr16:23529772	EARS2	Y398C	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88696827.	NM_001083614.2(EARS2):c.*1082T>C GRCh37: Chr16:23534610 GRCh38: Chr16:23523289	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88696728.	NM_001083614.2(EARS2):c.*1362T>C GRCh37: Chr16:23534330 GRCh38: Chr16:23523009	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88609429.	NM_001083614.2(EARS2):c.263C>T (p.Ala88Val) GRCh37: Chr16:23563502 GRCh38: Chr16:23552181	EARS2	A88V	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88609330.	NM_001083614.2(EARS2):c.403G>A (p.Gly135Arg) GRCh37: Chr16:23555917 GRCh38: Chr16:23544596	EARS2	G135R	not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Aug 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88603531.	NM_001083614.2(EARS2):c.1491A>G (p.Gln497=) GRCh37: Chr16:23535773 GRCh38: Chr16:23524452	EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88596532.	NM_001083614.2(EARS2):c.*1647C>T GRCh37: Chr16:23534045 GRCh38: Chr16:23522724	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88519233.	NM_001083614.2(EARS2):c.851A>G (p.Lys284Arg) GRCh37: Chr16:23546316 GRCh38: Chr16:23534995	EARS2	K284R	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88519134.	NM_001083614.2(EARS2):c.873C>T (p.Asp291=) GRCh37: Chr16:23546294 GRCh38: Chr16:23534973	EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Conflicting interpretations of pathogenicity (May 13, 2022)	criteria provided, conflicting interpretations
Select item 88512335.	NM_001083614.2(EARS2):c.*91C>T GRCh37: Chr16:23535601 GRCh38: Chr16:23524280	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88512236.	NM_001083614.2(EARS2):c.*180A>G GRCh37: Chr16:23535512 GRCh38: Chr16:23524191	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88512137.	NM_001083614.2(EARS2):c.*555G>A GRCh37: Chr16:23535137 GRCh38: Chr16:23523816	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88512038.	NM_001083614.2(EARS2):c.*637A>G GRCh37: Chr16:23535055 GRCh38: Chr16:23523734	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88504739.	NM_001083614.2(EARS2):c.*1902A>C GRCh37: Chr16:23533790 GRCh38: Chr16:23522469	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88504640.	NM_001083614.2(EARS2):c.*1904A>G GRCh37: Chr16:23533788 GRCh38: Chr16:23522467	GGA2, EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87056141.	NM_001083614.2(EARS2):c.1234C>T (p.Arg412Cys) GRCh37: Chr16:23540941 GRCh38: Chr16:23529620	EARS2	R412C	not provided	Likely pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 80322842.	NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter) GRCh37: Chr16:23546483 GRCh38: Chr16:23535162	EARS2	Y228*	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80322743.	NM_001083614.2(EARS2):c.1243G>A (p.Asp415Asn) GRCh37: Chr16:23540932 GRCh38: Chr16:23529611	EARS2	D415N	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73337844.	NM_001083614.2(EARS2):c.246C>T (p.Arg82=) GRCh37: Chr16:23563519 GRCh38: Chr16:23552198	EARS2		not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 67164645.	NM_001083614.2(EARS2):c.1488+34G>A GRCh37: Chr16:23536531 GRCh38: Chr16:23525210	EARS2	E508K	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67155246.	NM_001083614.2(EARS2):c.1352+25G>A GRCh37: Chr16:23540798 GRCh38: Chr16:23529477	EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55920647.	NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile) GRCh37: Chr16:23563556 GRCh38: Chr16:23552235	EARS2	S70I	Inborn genetic diseases, not specified, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 52273648.	NM_001083614.2(EARS2):c.790C>G (p.Leu264Val) GRCh37: Chr16:23546377 GRCh38: Chr16:23535056	EARS2	L264V	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Dec 3, 2017)	criteria provided, single submitter
Select item 50213049.	NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) GRCh37: Chr16:23546497 GRCh38: Chr16:23535176	EARS2	G224S	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 44953350.	NM_001083614.2(EARS2):c.320G>A (p.Arg107His) GRCh37: Chr16:23556000 GRCh38: Chr16:23544679	EARS2	R107H	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Pathogenic/Likely pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44095951.	NM_001083614.2(EARS2):c.334G>C (p.Ala112Pro) GRCh37: Chr16:23555986 GRCh38: Chr16:23544665	EARS2	A112P	not provided	Likely pathogenic (Jun 17, 2020)	criteria provided, single submitter
Select item 42920952.	NM_001083614.2(EARS2):c.1081C>T (p.Arg361Trp) GRCh37: Chr16:23541205 GRCh38: Chr16:23529884	EARS2	R361W	not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42510153.	NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) GRCh37: Chr16:23544000 GRCh38: Chr16:23532679	EARS2	E349K	not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 38029654.	NM_001083614.2(EARS2):c.813C>T (p.Phe271=) GRCh37: Chr16:23546354 GRCh38: Chr16:23535033	EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38029555.	NM_001083614.2(EARS2):c.402C>T (p.Thr134=) GRCh37: Chr16:23555918 GRCh38: Chr16:23544597	EARS2		not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not specified	Benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31855756.	NM_001083614.1(EARS2):c.-19G>A GRCh37: Chr16:23568683 GRCh38: Chr16:23557362	EARS2	R98C	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31855657.	NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu) GRCh37: Chr16:23563502 GRCh38: Chr16:23552181	EARS2	A88E	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 27, 2023)	criteria provided, conflicting interpretations
Select item 31855558.	NM_001083614.2(EARS2):c.351A>G (p.Gln117=) GRCh37: Chr16:23555969 GRCh38: Chr16:23544648	EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Uncertain significance (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31855359.	NM_001083614.2(EARS2):c.580G>A (p.Val194Met) GRCh37: Chr16:23546587 GRCh38: Chr16:23535266	EARS2	V194M	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31855260.	NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn) GRCh37: Chr16:23546500 GRCh38: Chr16:23535179	EARS2	D223N	not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Conflicting interpretations of pathogenicity (Jul 23, 2022)	criteria provided, conflicting interpretations
Select item 31855161.	NM_001083614.2(EARS2):c.874G>A (p.Val292Ile) GRCh37: Chr16:23546293 GRCh38: Chr16:23534972	EARS2	V292I	not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 31855062.	NM_001083614.2(EARS2):c.949G>T (p.Gly317Cys) GRCh37: Chr16:23546218 GRCh38: Chr16:23534897	EARS2	G317C	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 31854963.	NM_001083614.2(EARS2):c.959-15C>T GRCh37: Chr16:23544101 GRCh38: Chr16:23532780	EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31854764.	NM_001083614.2(EARS2):c.1071G>A (p.Leu357=) GRCh37: Chr16:23541215 GRCh38: Chr16:23529894	EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31854565.	NM_001083614.2(EARS2):c.1317G>A (p.Ser439=) GRCh37: Chr16:23540858 GRCh38: Chr16:23529537	EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not specified, not provided	Benign/Likely benign (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31854466.	NM_001083614.2(EARS2):c.1352G>T (p.Gly451Val) GRCh37: Chr16:23540823 GRCh38: Chr16:23529502	EARS2	G451V	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Uncertain significance (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31854267.	NM_001083614.2(EARS2):c.1409A>G (p.Lys470Arg) GRCh37: Chr16:23536644 GRCh38: Chr16:23525323	EARS2	K470R	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31854168.	NM_001083614.2(EARS2):c.1488+15C>T GRCh37: Chr16:23536550 GRCh38: Chr16:23525229	EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 2, 2022)	criteria provided, conflicting interpretations
Select item 31854069.	NM_001083614.2(EARS2):c.1489-14C>T GRCh37: Chr16:23535789 GRCh38: Chr16:23524468	EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 31853970.	NM_001083614.2(EARS2):c.*12T>G GRCh37: Chr16:23535680 GRCh38: Chr16:23524359	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31853871.	NM_001083614.2(EARS2):c.*15G>C GRCh37: Chr16:23535677 GRCh38: Chr16:23524356	GGA2, EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31853772.	NM_001083614.2(EARS2):c.*155A>G GRCh37: Chr16:23535537 GRCh38: Chr16:23524216	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31853473.	NM_001083614.2(EARS2):c.*400A>G GRCh37: Chr16:23535292 GRCh38: Chr16:23523971	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31853374.	NM_001083614.2(EARS2):c.*458C>T GRCh37: Chr16:23535234 GRCh38: Chr16:23523913	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31853075.	NM_001083614.2(EARS2):c.*713T>C GRCh37: Chr16:23534979 GRCh38: Chr16:23523658	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31852976.	NM_001083614.2(EARS2):c.*715G>A GRCh37: Chr16:23534977 GRCh38: Chr16:23523656	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31852877.	NM_001083614.2(EARS2):c.*914T>A GRCh37: Chr16:23534778 GRCh38: Chr16:23523457	GGA2, EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31852778.	NM_001083614.2(EARS2):c.*917C>T GRCh37: Chr16:23534775 GRCh38: Chr16:23523454	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31852579.	NM_001083614.2(EARS2):c.*1099A>G GRCh37: Chr16:23534593 GRCh38: Chr16:23523272	GGA2, EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31852480.	NM_001083614.2(EARS2):c.*1138G>A GRCh37: Chr16:23534554 GRCh38: Chr16:23523233	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31852381.	NM_001083614.2(EARS2):c.*1233C>T GRCh37: Chr16:23534459 GRCh38: Chr16:23523138	GGA2, EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31852282.	NM_001083614.2(EARS2):c.*1327A>G GRCh37: Chr16:23534365 GRCh38: Chr16:23523044	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31852183.	NM_001083614.2(EARS2):c.*1388C>T GRCh37: Chr16:23534304 GRCh38: Chr16:23522983	GGA2, EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31852084.	NM_001083614.2(EARS2):c.*1408A>G GRCh37: Chr16:23534284 GRCh38: Chr16:23522963	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31851985.	NM_001083614.2(EARS2):c.*1435C>A GRCh37: Chr16:23534257 GRCh38: Chr16:23522936	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31851886.	NM_001083614.2(EARS2):c.*1443C>G GRCh37: Chr16:23534249 GRCh38: Chr16:23522928	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31851787.	NM_001083614.2(EARS2):c.*1498A>G GRCh37: Chr16:23534194 GRCh38: Chr16:23522873	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31851688.	NM_001083614.2(EARS2):c.*1594C>T GRCh37: Chr16:23534098 GRCh38: Chr16:23522777	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31851589.	NM_001083614.2(EARS2):c.*1720G>A GRCh37: Chr16:23533972 GRCh38: Chr16:23522651	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31851490.	NM_001083614.2(EARS2):c.*1808G>A GRCh37: Chr16:23533884 GRCh38: Chr16:23522563	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31851391.	NM_001083614.2(EARS2):c.*1809T>C GRCh37: Chr16:23533883 GRCh38: Chr16:23522562	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31851192.	NM_001083614.2(EARS2):c.*2105C>G GRCh37: Chr16:23533587 GRCh38: Chr16:23522266	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31851093.	NM_001083614.2(EARS2):c.*2156T>G GRCh37: Chr16:23533536 GRCh38: Chr16:23522215	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31850994.	NM_001083614.2(EARS2):c.*2193A>G GRCh37: Chr16:23533499 GRCh38: Chr16:23522178	GGA2, EARS2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31850895.	NM_001083614.2(EARS2):c.*2294T>C GRCh37: Chr16:23533398 GRCh38: Chr16:23522077	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31850796.	NM_001083614.2(EARS2):c.*2309G>A GRCh37: Chr16:23533383 GRCh38: Chr16:23522062	EARS2, GGA2		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29095997.	NM_001083614.2(EARS2):c.280A>G (p.Met94Val) GRCh37: Chr16:23563485 GRCh38: Chr16:23552164	EARS2	M94V	not specified, not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 26510998.	NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) GRCh37: Chr16:23535717 GRCh38: Chr16:23524396	EARS2	R516Q	not specified, not provided, See cases, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Conflicting interpretations of pathogenicity (May 18, 2023)	criteria provided, conflicting interpretations
Select item 13719199.	NM_001083614.2(EARS2):c.264G>A (p.Ala88=) GRCh37: Chr16:23563501 GRCh38: Chr16:23552180	EARS2		not specified, not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137190100.	NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) GRCh37: Chr16:23568649 GRCh38: Chr16:23557328	EARS2	R6G	not specified, not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts

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