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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
SLC39A11
(V332I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(I328V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(V305M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(V277M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(L243I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(G238D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(T215M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC125316789, LOC126862633
+4 more
Copy number gain
See cases
GLikely benign
SLC39A11
(V199F +1 more)
Single nucleotide variant
(missense variant)
Ependymoma
GUncertain significance
SLC39A11
(N198D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(T195I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(R193K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(W184C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(G181D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(P166L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(G165S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862633, SLC39A11
(A146T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862633, SLC39A11
(L139V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862633, SLC39A11
(E136K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862633, SLC39A11
(P130L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862633, SLC39A11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126862633, SLC39A11
(A105T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
C17orf80, COG1
+17 more
Copy number gain
See cases
GUncertain significance
SLC39A11
(H101D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(L97F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(L87P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(T86A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(F79L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(A67S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(M51I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(A48T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(D41G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(R38Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC39A11
(Q36E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
(V31I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC39A11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A11
(T15N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC39A11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDC42EP4, COG1
+7 more
Copy number loss
not provided
GPathogenic
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
BTBD17, ARMC7
+40 more
Copy number gain
not provided
GPathogenic
LLGL2, MAP2K6
+119 more
Copy number gain
not provided
GLikely pathogenic
KCNJ16, KCNJ2
+2 more
Copy number gain
not provided
GUncertain significance
AANAT, AATK
+222 more
Copy number gain
not provided
GPathogenic
AANAT, AATK
+202 more
Copy number gain
See cases
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
SLC39A11
Copy number loss
See cases
GBenign
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