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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AATF, ACACA
+48 more
Copy number gain
See cases
GPathogenic
CCL15, CCL15-CCL14
(I113T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CCL15, CCL15-CCL14
(I113V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CCL15, CCL15-CCL14
(K106Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CCL15, CCL15-CCL14
(R90Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
CCL15, CCL15-CCL14
(R90W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CCL15, CCL15-CCL14
(K68R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CCL15, CCL15-CCL14
(M33T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CCL15, CCL15-CCL14
(V5M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
SLC4A1, DCAKD
+422 more
Copy number loss
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
AATF, ACACA
+66 more
Copy number loss
Chromosome 17q12 deletion syndrome
GPathogenic
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
AP2B1, ASIC2
+40 more
Copy number loss
not provided
GUncertain significance
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
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