Related gene-specific medical variations for Gene (Select 124454) - ClinVar

Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243603	NC_000016.9:g.(?_23535692)_(23546701_?)del	EARS2	Deletion	not provided	GPathogenic
Select item 2992943	NM_001083614.2(EARS2):c.139+11C>A	EARS2, LOC130058664 (A42S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2713807	NM_001083614.2(EARS2):c.63C>A (p.Pro21=)	EARS2, LOC130058664 (G71W)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2646324	NM_001083614.2(EARS2):c.72G>A (p.Arg24=)	EARS2, LOC130058664 (P68S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2627631	NM_001083614.2(EARS2):c.1279_1280insTCC (p.Thr426_Arg427insLeu)	EARS2	Insertion (inframe_insertion +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2627630	NM_001083614.2(EARS2):c.502A>G (p.Arg168Gly)	EARS2 (R168G)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2489202	NM_001083614.2(EARS2):c.30G>T (p.Gln10His)	EARS2, LOC130058664 (Q10H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2415375	NM_001083614.2(EARS2):c.119G>A (p.Arg40Gln)	EARS2, LOC130058664 (P52L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2238693	NM_001083614.2(EARS2):c.36G>C (p.Glu12Asp)	EARS2, LOC130058664 (L80V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2068006	NM_001083614.2(EARS2):c.61C>A (p.Pro21Thr)	EARS2, LOC130058664 (P21T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1964850	NM_001083614.2(EARS2):c.127C>T (p.Pro43Ser)	EARS2, LOC130058664 (P43S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1667273	NM_001083614.2(EARS2):c.48G>C (p.Ala16=)	EARS2, LOC130058664	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1618399	NM_001083614.2(EARS2):c.139+19A>G	EARS2, LOC130058664	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1496166	NM_001083614.2(EARS2):c.106G>A (p.Ala36Thr)	EARS2, LOC130058664 (A36T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1493694	NM_001083614.2(EARS2):c.139+4A>G	EARS2, LOC130058664	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1191713	NM_001083614.2(EARS2):c.100G>A (p.Gly34Arg)	EARS2, LOC130058664 (G34R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 733824	NM_001083614.2(EARS2):c.99C>T (p.Ala33=)	EARS2, LOC130058664	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 382026	NM_001083614.2(EARS2):c.63C>T (p.Pro21=)	EARS2, LOC130058664	Single nucleotide variant (synonymous variant +1 more)	not provided +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	GBenign
Select item 318538	NM_001083614.2(EARS2):c.*15G>C	GGA2, EARS2	Single nucleotide variant (3 prime UTR variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	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 318536	NM_001083614.2(EARS2):c.380_384del	EARS2, GGA2	Deletion (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	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 318534	NM_001083614.2(EARS2):c.*400A>G	EARS2, GGA2	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	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 318532	NM_001083614.2(EARS2):c.*535del	EARS2, GGA2	Deletion (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	GBenign
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 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 318526	NM_001083614.2(EARS2):c.*1048del	EARS2, GGA2	Deletion (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	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	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	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 (non-coding transcript variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	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 318512	NM_001083614.2(EARS2):c.*1902dup	EARS2, GGA2	Duplication (3 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency	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	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 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 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 253771	GRCh37/hg19 16p12.2(chr16:23533522-23563732)x3	EARS2	Copy number gain	See cases	GUncertain significance
Select item 235344	NM_001083614.2(EARS2):c.809A>G (p.His270Arg)	EARS2 (H270R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 137188	NM_001083614.1:c.+12T>G	EARS2	Single nucleotide variant	not provided	GBenign

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Items: 76