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Items: 1 to 100 of 521

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
LOC129388624, LOC129388625
+407 more
Copy number loss
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
ADCY10, ANKRD45
+332 more
Copy number loss
See cases
GPathogenic
ADCY10, LOC129931873
Copy number loss
See cases
GLikely benign
ADCY10
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ADCY10
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ADCY10
(N1455D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(V1514G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(V1453M +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ADCY10
(T1452I +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADCY10
(N1437I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
(R1435T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADCY10
(V1585A +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ADCY10
(T1421M +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADCY10
(L1572P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(W1571C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
(Y1469D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
(K1404* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ADCY10
(C1398R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADCY10
(E1457D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(T1390I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(E1450G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(R1447W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(G1372R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(C1368Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADCY10
(V1367I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(L1363P +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ADCY10
(P1419T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(C1357W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
(Q1349E +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADCY10
Deletion
(splice acceptor variant)
not provided
GUncertain significance
ADCY10
Duplication
(intron variant)
not provided
GBenign
ADCY10
Deletion
(intron variant)
not provided
GBenign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
(L1340fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ADCY10
(S1329T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
(Q1389E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(E1327* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ADCY10
(Q1477R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(Q1475R +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ADCY10
(M1314V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADCY10
(G1309R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY10
(Y1368H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
Single nucleotide variant
(synonymous variant)
Familial idiopathic hypercalciuria
+1 more
GBenign/Likely benign
ADCY10
(R1292T +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADCY10
(F1286L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADCY10
(N1285S +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
ADCY10
(A1339V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
(W1429C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY10
(H1262L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
(I1258N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(N1409K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(E1315G +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY10
(V1239A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADCY10
(F1299V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY10
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY10
(Y1226C +2 more)
Single nucleotide variant
(missense variant)
Familial idiopathic hypercalciuria
GUncertain significance
ADCY10
(R1269Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(R1269W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
(G1207R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ADCY10
(V1205L +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY10
(P1200L +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
ADCY10
(Y1260C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
Duplication
(intron variant)
not provided
GBenign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
Duplication
(intron variant)
not provided
GBenign
ADCY10
Deletion
(intron variant)
not provided
GLikely benign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY10
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ADCY10
(S1197N +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY10
(C1192Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY10
(R1181* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ADCY10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADCY10
(N1241S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10
(R1168* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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