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Items: 1 to 100 of 357

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB11, AGPS
+488 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+224 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
CCDC141
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CCDC141
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CCDC141
(T1529R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
(G1500V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CCDC141
(T1499R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(L1496F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(G1488S)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDC141
(S1487N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(R1482W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CCDC141
(Y1479*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CCDC141
(A1476T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(V1471I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(R1463S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(T1462S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
(V1457I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
CCDC141
(A1451P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(L1449F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CCDC141
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC141
(P1438S)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism
GUncertain significance
CCDC141
(V1432E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
(T1419I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(L1415V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(R1413G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(V1401M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC141
(I1392F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(R1389Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC141
(V1387A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDC141
(T1378I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
(H1363R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(D1352V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(G1340S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(Q1337H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(S1316R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
(S1284T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(D1274E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(D1274V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(E1263Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(A1261V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
(V1251L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(P1237T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
(L1201V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(M1200V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(V1191I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(R1176Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC141
(R1176*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CCDC141
(N1170S)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDC141
(I1169V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC141
(L1167*)
Single nucleotide variant
(nonsense)
not provided
GLikely benign
CCDC141
Duplication
(intron variant)
not provided
GBenign
CCDC141
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC141
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CCDC141
(T1150K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(Q1149P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(I1138fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
CCDC141
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC141
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC141
Microsatellite
(intron variant)
not provided
GBenign
CCDC141
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC141
(L1107fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
(K1098fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
CCDC141
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC141
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CCDC141
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
(P1064L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDC141
(K1043R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
(C1042Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(K1037N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDC141
(V1035D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(E1026K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDC141
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC141
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC141
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CCDC141
(H993Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC141
(K988N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC141
(L983P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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