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Items: 1 to 100 of 769

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937446, LOC129937447
+1343 more
Copy number gain
See cases
GPathogenic
ABHD10, ABI3BP
+681 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
ABTB1, ADCY5
+570 more
Copy number loss
See cases
GPathogenic
ADCY5, ADPRH
+286 more
Copy number loss
See cases
GPathogenic
ADCY5, ADPRH
+326 more
Copy number loss
See cases
GPathogenic
LOC126806792, LOC126806793
+291 more
Copy number loss
See cases
GPathogenic
ADCY5, CASR
+182 more
Copy number loss
See cases
GPathogenic
ADCY5, ALDH1L1
+214 more
Copy number loss
See cases
GPathogenic
ADCY5
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ADCY5
Deletion
(frameshift variant)
not provided
GUncertain significance
ADCY5
Deletion
(frameshift variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign/Likely benign
ADCY5
(P1259L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
ADCY5
(N1255S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADCY5
(Y1277C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(M900T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(M1250L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(E898K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(K1246E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
ADCY5
(R1238W +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
GPathogenic
ADCY5
(C1237Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ADCY5
(T1257M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ADCY5
(V877M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
Microsatellite
(intron variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
(R1217C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(D1241N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
ADCY5-related disorder
+1 more
GLikely benign
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(M1209V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(R1208H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(R1208C +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
GLikely pathogenic
ADCY5
(V1230M +2 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(G1200V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(I1198T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(Q1195P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(R1192Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(G1187R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(V1184M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ADCY5
(D1153N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADCY5
(D1162N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(synonymous variant)
ADCY5-related disorder
+1 more
GLikely benign
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(Y1129H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
Dyskinesia with orofacial involvement, autosomal recessive
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(Q768K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(R1115Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADCY5
(D1114G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(E1138G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(I1111V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(N1101S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(G1093S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(E1092K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(V1085I +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(Y1084C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(S1106F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY5
(A1078T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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