"Baylor Genetics"[submitter] AND "EARS2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1030114	NM_001083614.2(EARS2):c.1351G>A (p.Gly451Arg)	EARS2 (G451R)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	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 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 1030116	NM_001083614.2(EARS2):c.913G>A (p.Asp305Asn)	EARS2 (D305N)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more	GUncertain significance
Select item 1033677	NM_001083614.2(EARS2):c.745G>C (p.Glu249Gln)	EARS2 (E249Q)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	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 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 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 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