29419[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
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 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
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 318507	NM_001083614.2(EARS2):c.*2309G>A	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	GUncertain significance
Select item 318508	NM_001083614.2(EARS2):c.*2294T>C	EARS2, GGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	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
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 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 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 318512	NM_001083614.2(EARS2):c.*1902dup	EARS2, GGA2	Duplication (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 318526	NM_001083614.2(EARS2):c.*1048del	EARS2, GGA2	Deletion (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	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 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 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 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 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 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 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 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 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 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 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 318531	NM_001083614.2(EARS2):c.*535dup	EARS2, GGA2	Duplication (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 318532	NM_001083614.2(EARS2):c.*535del	EARS2, GGA2	Deletion (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	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 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 318535	NM_001083614.2(EARS2):c.*383GA[1]	EARS2, GGA2	Microsatellite (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	GLikely benign
Select item 318536	NM_001083614.2(EARS2):c.380_384del	EARS2, GGA2	Deletion (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	GBenign
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 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 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 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 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 3054187	NM_001083614.2(EARS2):c.*6G>A	EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	EARS2-related disorder	GLikely benign
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 2502597	NM_001083614.2(EARS2):c.1556del (p.Lys519fs)	EARS2 (K519fs)	Deletion (frameshift variant +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 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 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 2302440	NM_001083614.2(EARS2):c.1540C>T (p.Arg514Trp)	EARS2 (R514W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2304541	NM_001083614.2(EARS2):c.1510A>G (p.Met504Val)	EARS2 (M504V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 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 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 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 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 444365	NM_001083614.2(EARS2):c.1481G>A (p.Gly494Glu)	EARS2 (G494E)	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 3274332	NM_001083614.2(EARS2):c.1409A>C (p.Lys470Thr)	EARS2 (K470T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2618461	NM_001083614.2(EARS2):c.1408A>C (p.Lys470Gln)	EARS2 (K470Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3086813	NM_001083614.2(EARS2):c.1376G>A (p.Ser459Asn)	EARS2 (S459N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3086812	NM_001083614.2(EARS2):c.1354C>T (p.Leu452Phe)	EARS2 (L452F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1902325	NM_001083614.2(EARS2):c.1353-11TCT[2]	EARS2	Microsatellite (intron variant)	not provided	GUncertain significance
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 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

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