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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AATF, ACACA
+48 more
Copy number gain
See cases
GPathogenic
AATF, ACACA
+44 more
Copy number loss
See cases
GPathogenic
AATF, ACACA
+44 more
Copy number gain
See cases
GPathogenic
CCL3L3, CCL4
+5 more
Copy number gain
See cases
GLikely benign
CCL4
(S70R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CCL4
(D88V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AATF, ACACA
+23 more
Copy number gain
not specified
GPathogenic
AATF, ACACA
+66 more
Copy number loss
Chromosome 17q12 deletion syndrome
GPathogenic
AATF, ACACA
+23 more
Copy number gain
not provided
GPathogenic
CCL3, CCL3L1
+7 more
Copy number loss
not provided
GUncertain significance
CCL14, CCL15
+10 more
Copy number gain
not provided
GUncertain significance
AATF, ABHD15
+201 more
Copy number gain
not provided
GPathogenic
CCL14, CCL15
+10 more
Copy number gain
not provided
GUncertain significance
AATF, ACACA
+21 more
Copy number gain
not provided
GPathogenic
AATF, ACACA
+21 more
Copy number gain
not provided
GPathogenic
AP2B1, ASIC2
+40 more
Copy number loss
not provided
GUncertain significance
TNFSF12, TNFSF12-TNFSF13
+1143 more
Copy number gain
See cases
GPathogenic
AIPL1, AKAP1
+1143 more
Copy number gain
See cases
GPathogenic
CCL4L1, CCL4L2
+26 more
Deletion
Chromosome 17q12 deletion syndrome
GPathogenic
CCL3L1, CCL3L3
+6 more
Copy number gain
See cases
GLikely benign
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