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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+298 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
ADAM23, C2orf80
+131 more
Copy number loss
See cases
GPathogenic
ADAM23, CMKLR2
+30 more
Copy number gain
See cases
GLikely pathogenic
EEF1B2
(K22R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF1B2
Single nucleotide variant
(splice donor variant)
Global developmental delay
GPathogenic
EEF1B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EEF1B2
(Y62*)
Duplication
(nonsense)
Global developmental delay
GPathogenic
EEF1B2
(S68G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EEF1B2
(P81S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EEF1B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EEF1B2
(D99G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EEF1B2
(D102N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF1B2
(D108E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EEF1B2
Single nucleotide variant
(intron variant)
not provided
GBenign
EEF1B2
(S112N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EEF1B2
(E113K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EEF1B2
(S128*)
Single nucleotide variant
(nonsense)
Moderate global developmental delay
+2 more
GPathogenic
EEF1B2
(E152K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EEF1B2
(M155R)
Single nucleotide variant
(missense variant)
EEF1B2-related condition
GUncertain significance
EEF1B2
(V171L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EEF1B2
(V178L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EEF1B2
(Q190R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABI2, ACADL
+95 more
Copy number loss
not specified
GPathogenic
ABI2, ACADL
+38 more
Copy number loss
not specified
GPathogenic
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+107 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ABI2, ACADL
+127 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
ABI2, ADAM23
+58 more
Copy number loss
not specified
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
ABI2, ACADL
+44 more
Deletion
Primary pulmonary hypertension
GUncertain significance
CMKLR2, EEF1B2
+2 more
Copy number loss
not provided
GUncertain significance
CD28, CMKLR2
+15 more
Copy number gain
not provided
GUncertain significance
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ACADL, ADAM23
+36 more
Copy number loss
not provided
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
AAMP, ABCA12
+60 more
Copy number gain
not provided
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
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