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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
CHID1, CHRNA10
+917 more
Copy number gain
See cases
GPathogenic
ADM, ADM-DT
+208 more
Copy number loss
See cases
GPathogenic
IRAG1-AS1, LYVE1
(S311G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(K308M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRAG1-AS1, LYVE1
(P304R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(N289S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(G249D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(T238M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(A231S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(P218A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(T211N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(S210I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(M207T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IRAG1-AS1, LYVE1
(I200V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(T184I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(A125E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(P119R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(V111A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(P104L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IRAG1-AS1, LYVE1
(V95M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(T76I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(A60D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(T55R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(M39T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(E28K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(I14L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1-AS1, LYVE1
(T12I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
(Y669F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
(V847A +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
(C758R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
(S802N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
(G476D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
(Q753K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
(G416E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
(S411L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
(P601S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
+1 more
(R587L +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IRAG1, IRAG1-AS1
+1 more
(R587H +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
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