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Links from Gene

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130061697, MRPL38
(R7Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130061697, MRPL38
(A9V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(Y206C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UNC13D, TRIM65
+9 more
Duplication
Acyl-CoA oxidase deficiency
GUncertain significance
MRPL38
(H332N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(F273L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(L255F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(E197K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(K148Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(R99Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(I88T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(R58W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(P362S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(R360Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(H351Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX1, CASKIN2
+24 more
Copy number gain
not provided
GUncertain significance
MRPL38
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130061697, MRPL38
(W5C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(R356H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX1, ARMC7
+52 more
Copy number gain
7q11.23 microduplication syndrome
GPathogenic
MRPL38
(G242D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(E112K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(R368Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(R261Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(R346W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130061695, MRPL38
(P34R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(R368W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(Q308P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(P257L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(A285T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MRPL38
(R346Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130061695, MRPL38
(P34L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(I110V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(R338W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL38
(R136W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EVPL, EXOC7
+146 more
Copy number gain
not provided
GPathogenic
AANAT, ACOX1
+84 more
Copy number gain
not provided
GPathogenic
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
ACOX1, FBF1
+13 more
Copy number gain
not provided
GUncertain significance
LLGL2, MAP2K6
+119 more
Copy number gain
not provided
GLikely pathogenic
CASKIN2, CDK3
+21 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
ACOX1, FBF1
+9 more
Copy number gain
See cases
GUncertain significance
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
FBF1, MRPL38
+1 more
Copy number loss
See cases
GUncertain significance
SRP68, TRIM65
+12 more
Copy number gain
See cases
GUncertain significance
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
ACOX1, FBF1
+49 more
Copy number loss
See cases
GPathogenic
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
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