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Items: 1 to 100 of 158

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935364, MARS2
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129935364, MARS2
(L2V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935364, MARS2
(L2R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935364, MARS2
(R3*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOC129935364, MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935364, MARS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LOC129935364, MARS2
(S5T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC129935364, MARS2
(V6I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(R8L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MARS2
(L9Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(T13M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(A15T)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MARS2
(L21V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(S30C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(D39N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(D42N)
Single nucleotide variant
(missense variant)
not provided
GBenign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(I51V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935365, MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935365, MARS2
(H59Y)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
LOC129935365, MARS2
(G61E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC129935365, MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935365, MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935365, MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2, LOC129935365
(L67V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935365, MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(P81T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(T83A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129935366, MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935366, MARS2
(A85V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935366, MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2, LOC129935366
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
LOC129935366, MARS2
(A109fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
LOC129935366, MARS2
(P110L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(Q123P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(Q126*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MARS2
(I136S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(I136M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(R137L)
Indel
(missense variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(A141V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(W151S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(V153M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
MARS2
(L159V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(Y165C)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 25
+1 more
GUncertain significance
MARS2
(G167S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(C175S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MARS2
(A180V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(T183I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(V195A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(P202S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(N229T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(P230R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(I233V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(V241I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(E249K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MARS2
(P251L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(L253M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(V255M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(V255L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(R257P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MARS2
(G270E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(D272G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(I276L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MARS2
(L283fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MARS2
(N285I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
(N285S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
(G291fs)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
MARS2
(G291D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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