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Links from MedGen

Items: 1 to 100 of 117

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EARS2
(V339F)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(S316*)
Single nucleotide variant
(nonsense +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GLikely pathogenic
EARS2
(K151*)
Single nucleotide variant
(nonsense +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GLikely pathogenic
EARS2
(G502R)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
EARS2
(R489W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EARS2
(H517fs)
Deletion
(frameshift variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(G99A)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(D79V)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(Q126*)
Single nucleotide variant
(nonsense +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GPathogenic
EARS2
(C140fs)
Deletion
(frameshift variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+1 more
GPathogenic/Likely pathogenic
EARS2
(R82C)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+1 more
GUncertain significance
EARS2
(R412H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EARS2
(R190H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
EARS2
(E249Q)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(D305N)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+1 more
GUncertain significance
LOC130058664, EARS2
(S15P)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(G451R)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(P428fs)
Deletion
(frameshift variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GPathogenic
EARS2
(R107C)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GLikely pathogenic
EARS2
(R55H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EARS2
(T332P)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
GGA2, EARS2
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(A103P)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GLikely benign
EARS2, LOC130058664
Single nucleotide variant
(synonymous variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(K66M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EARS2
(Y398C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
EARS2
(A88V)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(G135R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EARS2
Single nucleotide variant
(synonymous variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(K284R)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GLikely benign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
GGA2, EARS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GLikely benign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
GGA2, EARS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(R412C)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
EARS2
(Y228*)
Single nucleotide variant
(nonsense +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GPathogenic
EARS2
(D415N)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+1 more
GUncertain significance
EARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
EARS2
(E508K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
EARS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
EARS2
(S70I)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
EARS2
(L264V)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(G224S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
EARS2
(R107H)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+1 more
GPathogenic/Likely pathogenic
EARS2
(A112P)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
EARS2
(R361W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EARS2
(E349K)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+2 more
GConflicting classifications of pathogenicity
EARS2
(F71fs)
Deletion
(frameshift variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+1 more
GPathogenic/Likely pathogenic
EARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
EARS2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
EARS2
(R98C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
(A88E)
Single nucleotide variant
(missense variant +1 more)
EARS2-related disorder
+2 more
GConflicting classifications of pathogenicity
EARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GUncertain significance
EARS2
(V194M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
EARS2
(D223N)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+1 more
GConflicting classifications of pathogenicity
EARS2
(V292I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
EARS2
(G317C)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+1 more
GConflicting classifications of pathogenicity
EARS2
Single nucleotide variant
(intron variant)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
Single nucleotide variant
(synonymous variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
EARS2
(G451V)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+1 more
GUncertain significance
EARS2
(K470R)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
EARS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
GGA2, EARS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GLikely benign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(non-coding transcript variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
GGA2, EARS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GLikely benign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
GGA2, EARS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GLikely benign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
EARS2, GGA2
Single nucleotide variant
(non-coding transcript variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
EARS2, GGA2
Single nucleotide variant
(non-coding transcript variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
EARS2, GGA2
Single nucleotide variant
(non-coding transcript variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(non-coding transcript variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GLikely benign
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
GGA2, EARS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GUncertain significance
EARS2, GGA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
GBenign
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