"Ambry Genetics"[submitter] AND "EARS2"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3086811	NM_001083614.2(EARS2):c.1166A>G (p.Gln389Arg)	EARS2 (Q389R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289530	NM_001083614.2(EARS2):c.1114C>G (p.Leu372Val)	EARS2 (L372V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343779	NM_001083614.2(EARS2):c.1094A>G (p.Asn365Ser)	EARS2 (N365S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1438575	NM_001083614.2(EARS2):c.1046A>T (p.Glu349Val)	EARS2 (E349V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 2226099	NM_001083614.2(EARS2):c.1039G>A (p.Asp347Asn)	EARS2 (D347N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2601463	NM_001083614.2(EARS2):c.1007T>A (p.Leu336Gln)	EARS2 (L336Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596189	NM_001083614.2(EARS2):c.999G>C (p.Gln333His)	EARS2 (Q333H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2190184	NM_001083614.2(EARS2):c.983C>T (p.Pro328Leu)	EARS2 (P328L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 2542852	NM_001083614.2(EARS2):c.875T>C (p.Val292Ala)	EARS2 (V292A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 318551	NM_001083614.2(EARS2):c.874G>A (p.Val292Ile)	EARS2 (V292I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 521148	NM_001083614.2(EARS2):c.687C>G (p.His229Gln)	EARS2 (H229Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086816	NM_001083614.2(EARS2):c.568C>T (p.Arg190Cys)	EARS2 (R190C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2111149	NM_001083614.2(EARS2):c.545A>G (p.Asp182Gly)	EARS2 (D182G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 521147	NM_001083614.2(EARS2):c.488A>G (p.Tyr163Cys)	EARS2 (Y163C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2368723	NM_001083614.2(EARS2):c.467G>A (p.Arg156Gln)	EARS2 (R156Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517893	NM_001083614.2(EARS2):c.437G>A (p.Arg146Gln)	EARS2 (R146Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086815	NM_001083614.2(EARS2):c.401C>T (p.Thr134Ile)	EARS2 (T134I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557101	NM_001083614.2(EARS2):c.341C>T (p.Pro114Leu)	EARS2 (P114L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 39789	NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	EARS2 (G110S)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +2 more	GConflicting classifications of pathogenicity
Select item 39787	NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	EARS2 (R108W)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +12 more	GPathogenic/Likely pathogenic
Select item 2480812	NM_001083614.2(EARS2):c.302C>T (p.Pro101Leu)	EARS2 (P101L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086814	NM_001083614.2(EARS2):c.286G>C (p.Glu96Gln)	EARS2 (E96Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2061121	NM_001083614.2(EARS2):c.247G>T (p.Val83Phe)	EARS2 (V83F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1931618	NM_001083614.2(EARS2):c.247G>A (p.Val83Ile)	EARS2 (V83I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2600739	NM_001083614.2(EARS2):c.209G>A (p.Ser70Asn)	EARS2 (S70N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559206	NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile)	EARS2 (S70I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 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 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

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Items: 40