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Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
ACSS2, ACTL10
+254 more
Copy number gain
See cases
GPathogenic
AAR2, ACSS2
+214 more
Copy number loss
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
PHF20
(R24H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(P63S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(K106R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(D139H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PHF20
(A235D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(P249S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(S273P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(P297L)
Single nucleotide variant
(missense variant)
Short stature
GLikely pathogenic
PHF20
(S316L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(K321Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(T352M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(V379F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(H386Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(D390H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(M404V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(P413L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(L417V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(E487D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(G490E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(E508Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(E535V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(P591L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
Single nucleotide variant
(intron variant)
not provided
GBenign
PHF20
Single nucleotide variant
(intron variant)
not provided
GBenign
PHF20
(E609V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PHF20
(G644E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(E714K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(V740M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(L746R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(V755I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(H771Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(S785A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(S785L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(P796A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(R801T)
Single nucleotide variant
(missense variant)
not provided
GBenign
PHF20
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PHF20
(R845C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PHF20
(S862F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(D865N)
Single nucleotide variant
(missense variant)
Short stature
GLikely pathogenic
PHF20
(A867V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(N869K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(P881L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(R891K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PHF20
(I960V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
Single nucleotide variant
(intron variant)
not provided
GBenign
PHF20
(E978D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF20
(P987S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAR2, ACSS2
+98 more
Copy number gain
not provided
GLikely pathogenic
ACSS2, ACTL10
+86 more
Copy number gain
not provided
GLikely pathogenic
AAR2, ACSS2
+88 more
Copy number gain
not provided
GPathogenic
CNBD2, SCAND1
+1 more
Copy number gain
not provided
GUncertain significance
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
PHF20
Copy number gain
See cases
GUncertain significance
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