"GeneDx"[submitter] AND "EARS2"[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 59987	GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3	LOC130058650, LOC130058651 +23 more	Copy number gain	See cases	GUncertain significance
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 2502597	NM_001083614.2(EARS2):c.1556del (p.Lys519fs)	EARS2 (K519fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 265109	NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)	EARS2 (R516Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1202403	NM_001083614.2(EARS2):c.1489-47T>C	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285786	NM_001083614.2(EARS2):c.1489-210dup	EARS2	Duplication (intron variant)	not provided	GBenign
Select item 1186505	NM_001083614.2(EARS2):c.1489-295G>C	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202209	NM_001083614.2(EARS2):c.1488+310G>A	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680558	NM_001083614.2(EARS2):c.1488+199A>G	EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 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 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 1215138	NM_001083614.2(EARS2):c.1353-169C>T	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219161	NM_001083614.2(EARS2):c.1352+262del	EARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 671552	NM_001083614.2(EARS2):c.1352+25G>A	EARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 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 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 2443398	NM_001083614.2(EARS2):c.1214T>C (p.Leu405Pro)	EARS2 (L405P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 386924	NM_001083614.2(EARS2):c.1209C>T (p.Leu403=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 488831	NM_001083614.2(EARS2):c.1194C>G (p.Tyr398Ter)	EARS2 (Y398*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 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 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 137185	NM_001083614.2(EARS2):c.1068-5C>T	EARS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1223771	NM_001083614.2(EARS2):c.1068-55G>A	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 680557	NM_001083614.2(EARS2):c.959-209C>T	EARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261638	NM_001083614.2(EARS2):c.958+231T>C	EARS2	Single nucleotide variant (intron variant)	not provided	GBenign
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 426388	NM_001083614.2(EARS2):c.949G>A (p.Gly317Ser)	EARS2 (G317S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1212878	NM_001083614.2(EARS2):c.911C>A (p.Pro304His)	EARS2 (P304H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1204048	NM_001083614.2(EARS2):c.878T>C (p.Phe293Ser)	EARS2 (F293S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 692300	NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)	EARS2 (A272T)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +2 more	GLikely pathogenic
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 1697076	NM_001083614.2(EARS2):c.730G>A (p.Val244Met)	EARS2 (V244M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580646	NM_001083614.2(EARS2):c.716T>C (p.Met239Thr)	EARS2 (M239T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 392792	NM_001083614.2(EARS2):c.700G>C (p.Val234Leu)	EARS2 (V234L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1800788	NM_001083614.2(EARS2):c.679A>G (p.Thr227Ala)	EARS2 (T227A)	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)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +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 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 513502	NM_001083614.2(EARS2):c.570C>T (p.Arg190=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 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
Select item 676118	NM_001083614.2(EARS2):c.485+109G>A	EARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1466021	NM_001083614.2(EARS2):c.466C>T (p.Arg156Trp)	EARS2 (R156W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 39789	NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	EARS2 (G110S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 39787	NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	EARS2 (R108W)	Single nucleotide variant (missense variant +1 more)	See cases +12 more	GPathogenic/Likely pathogenic
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 1806771	NM_001083614.2(EARS2):c.299T>C (p.Ile100Thr)	EARS2 (I100T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 681410	NM_001083614.2(EARS2):c.296-4C>G	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201533	NM_001083614.2(EARS2):c.296-41C>T	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252263	NM_001083614.2(EARS2):c.295+286A>G	EARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211503	NM_001083614.2(EARS2):c.295+281G>T	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3340707	NM_001083614.2(EARS2):c.295+2T>C	EARS2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 452150	NM_001083614.2(EARS2):c.293C>T (p.Ala98Val)	EARS2 (A98V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 290959	NM_001083614.2(EARS2):c.280A>G (p.Met94Val)	EARS2 (M94V)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +2 more	GConflicting classifications of pathogenicity
Select item 559205	NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu)	EARS2 (A88E)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 137191	NM_001083614.2(EARS2):c.264G>A (p.Ala88=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
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 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 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 1278845	NM_001083614.2(EARS2):c.204G>A (p.Gln68=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2444670	NM_001083614.2(EARS2):c.202C>T (p.Gln68Ter)	EARS2 (Q68*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 1175688	NM_001083614.2(EARS2):c.140-171G>A	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254354	NM_001083614.2(EARS2):c.139+327G>C	EARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191713	NM_001083614.2(EARS2):c.100G>A (p.Gly34Arg)	EARS2, LOC130058664 (G34R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 382026	NM_001083614.2(EARS2):c.63C>T (p.Pro21=)	EARS2, LOC130058664	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 518143	NM_001083614.2(EARS2):c.45G>A (p.Ser15=)	EARS2, LOC130058664	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1899769	NM_001083614.2(EARS2):c.31C>A (p.Arg11Ser)	EARS2, LOC130058664 (R11S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 137190	NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly)	EARS2 (R6G)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +2 more	GBenign/Likely benign
Select item 137189	NM_001083614.2(EARS2):c.15G>C (p.Leu5=)	EARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3359280	NM_001083614.2(EARS2):c.14T>C (p.Leu5Pro)	EARS2 (L5P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1174204	NM_001083614.1(EARS2):c.-9C>T	EARS2 (W94*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 388262	NM_001083614.1(EARS2):c.-14C>A	EARS2 (S96I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1203876	NC_000016.10:g.23557459T>G	EARS2	Single nucleotide variant	not provided	GLikely benign
Select item 1293794	NC_000016.10:g.23557571A>G	EARS2	Single nucleotide variant	not provided	GBenign
Select item 253771	GRCh37/hg19 16p12.2(chr16:23533522-23563732)x3	EARS2	Copy number gain	See cases	GUncertain significance
Select item 137188	NM_001083614.1:c.+12T>G	EARS2	Single nucleotide variant	not provided	GBenign

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Items: 91