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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPK2, ATP8B1
+340 more
Copy number loss
See cases
GPathogenic
LOC130062765, LOC130062766
+572 more
Copy number loss
See cases
GPathogenic
NARS1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
NARS1
(I533V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(Y508H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(Y499H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(G493R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(T459S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(T459fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
NARS1
(T459I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NARS1
(R451*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NARS1
(F440S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NARS1
(K406N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(V405I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NARS1
(N392T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(R390W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(L377P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(K367N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(R364L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(D356A)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
NARS1
(R353P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(C342Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(Q319*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NARS1
(G312A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(N241S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(Q229fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
NARS1
(E176D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(T175R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(K142N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(F131fs)
Insertion
(frameshift variant)
not provided
GUncertain significance
NARS1
Insertion
(splice donor variant)
not provided
GUncertain significance
NARS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NARS1
(K60E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NARS1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
NARS1
(T28A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(T17A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
TNFRSF11A, TXNL1
+267 more
Copy number gain
See cases
GPathogenic
NARS1
(R322W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(G209V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NARS1
(G509V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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