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Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP2S1, ARHGAP35
+363 more
Copy number gain
See cases
GPathogenic
AP2S1, ARHGAP35
+123 more
Copy number loss
See cases
GPathogenic
AP2S1, ARHGAP35
+290 more
Copy number gain
See cases
GPathogenic
AP2S1
Single nucleotide variant
not provided
GLikely benign
AP2S1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
AP2S1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AP2S1
(T145M +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2S1
(E124K +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
(D117G +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
(T112M +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2S1
(T126S +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AP2S1
Duplication
(intron variant)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
(L101P +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant +1 more)
Familial hypocalciuric hypercalcemia 3
+1 more
GBenign/Likely benign
AP2S1
(I84V +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AP2S1
(A79V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AP2S1
(C70Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AP2S1
(I69V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant +1 more)
AP2S1-related condition
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AP2S1
(R61H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AP2S1
(R61C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AP2S1
(R60H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AP2S1
(S56F)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
AP2S1
(I55S)
Single nucleotide variant
(missense variant +1 more)
Familial hypocalciuric hypercalcemia 3
+1 more
GBenign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP2S1
Deletion
(intron variant)
not provided
GBenign
AP2S1
Duplication
(intron variant)
not provided
GBenign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
AP2S1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
AP2S1
(A46T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
(R44Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2S1
(R42G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
(Q22H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
(R15H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
AP2S1
(R15L +2 more)
Single nucleotide variant
(missense variant)
AP2S1-related condition
+2 more
GPathogenic
AP2S1
(R15C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
(R10Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2S1
(R10W +2 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia 3
+3 more
GConflicting classifications of pathogenicity
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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