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Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
ADM, ADM-DT
+135 more
Copy number gain
See cases
GUncertain significance
TRIM66
(P1179L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(T1350I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(Q1294R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(R1152W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P1288L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(R1310L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(D1274E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(H1101Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(K1221R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(R1223W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P1211S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P1245L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(N1060S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(Y1045C +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TRIM66
(R1037W +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TRIM66
(E1147Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(R1126H +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIM66
(N1117S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P963A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(R1094Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(I1092V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(V1105F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM66
(P922L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM66
(M1045I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(Q1065E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P1017R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(K1007R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(R1042Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(R1002Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(Y861C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(Y1002C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(T995M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P815L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(A990V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIM66
(A953T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P950S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(L976V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(D930G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(R776Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIM66
(A896T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P856Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(G850S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(F856L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(L706F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(S705N +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TRIM66
(Q690H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TRIM66
(V789A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(S783N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P695T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(M505V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIM66
(H487P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(H611Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P571L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P461A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P567A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P410A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(E396K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(V501L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P392A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(S376I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(R369G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(F492L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P447A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P338Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P446L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(S474L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIM66
(C433R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(C466R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(A459V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(V405G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(Y280C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(Q258R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(T249S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(N314S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(N351H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(N195T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(M300T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(I170T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(N167T +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TRIM66
(M267T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(K249T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM66
(H121P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(P66L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(T62I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(G204R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(R46P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(T175A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(K156E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM66
(N149S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADM, AKIP1
+18 more
Copy number gain
not provided
GUncertain significance
ANO9, AP2A2
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
CHRNA10, CNGA4
+208 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
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