"Eurofins Ntd Llc (ga)"[submitter] AND "EARS2"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 288965	NM_001083614.2(EARS2):c.1033C>G (p.Leu345Val)	EARS2 (L345V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 290961	NM_001083614.2(EARS2):c.485G>A (p.Arg162Gln)	EARS2 (R162Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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