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Items: 1 to 100 of 261

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1330 more
Copy number gain
See cases
GPathogenic
LOC130000987, LOC130000988
+1205 more
Copy number gain
See cases
GPathogenic
LOC130001173, LOC130001174
+1068 more
Copy number gain
See cases
GPathogenic
LOC130001070, LOC130001071
+962 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC130001144, LOC130001145
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
CCN4, CHRAC1
+206 more
Copy number gain
See cases
GPathogenic
EPPK1, ERICD
+499 more
Copy number gain
See cases
GPathogenic
COL22A1, LOC113788259
+4 more
Copy number gain
See cases
GLikely benign
COL22A1
(P1620L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(S1615C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(Y1612H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1596L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1581L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(G1568R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(G1527A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(Q1525K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(M1517I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(G1515S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1505S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1504S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R1498S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(L1483H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL22A1
(A1481S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(L1480F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R1466Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(L1454V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(Q1448H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1443Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1430L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(H1424Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R1365H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL22A1
(R1365C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(N1353H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1338T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(K1328N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(K1328R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1326T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R1290Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(S1284C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R1272Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(L1265V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1251S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(E1245K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1236H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(S1233P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(A1212S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(D1206G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1197L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1188S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
COL22A1
(R1173H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(Q1170E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(G1162V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1158S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1154L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(K1149T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1137R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(G1123V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1118S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(D1112N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL22A1
(D1105N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(L1101P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1086A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL22A1
(R1079Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COL22A1
(G1054R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P1049R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(G1043D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(G1040D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(G1040S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R1039P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(I1032T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P998R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P998S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R992H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(G990E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P980L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(E959D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R951H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P900L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R887H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
COL22A1
(D875N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(E872V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(P869H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R862Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(R836Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL22A1
(G807W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance

Items: 1 to 100 of 261

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