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Items: 1 to 100 of 60477

  • The following term was not found in ClinVar: ethylhexanoate.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
PEX10
(H290Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 6B
GPathogenic
PEX10
(R264* +4 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+3 more
GPathogenic
PRDM16
(P291L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+1 more
GUncertain significance
ZBTB48
(S53R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(G60R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(G125R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(G131R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZBTB48
(S140I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(P145L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(C210Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(G227S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZBTB48
(E238K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(P264L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(L276V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(E279K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(P318R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(P322S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(Y328S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(R330P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(R340Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(T351M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(S353C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(M376T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(S382F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(M453I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZBTB48
(R485C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(S522G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(V540L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(Q545P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(R548Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(E579K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(D601N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(E619K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(P630L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(I642T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB48
(G668S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBTB48
(S675C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RERE
(P552L)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
C1orf127, CASZ1
+48 more
Copy number gain
See cases
GUncertain significance
CASZ1
(P1759L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(T1754S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(G1747D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(L1746P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(A1742V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(R1736Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CASZ1
(S1722P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(E1721A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(S1719P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
Microsatellite
(inframe_deletion)
not provided
GBenign
CASZ1
Microsatellite
(inframe_deletion)
not provided
GLikely benign
CASZ1
(E1708K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(D1707E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(D1702E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(D1701E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(D1701G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(D1697E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(P1685S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(E1678K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(G1650C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(G1647D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(L1641Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CASZ1
(L1630V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(E1625K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CASZ1
(P1612L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(P1612S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CASZ1
(E1606A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(S1586L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(S1554G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(C1549R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CASZ1
(F1522Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(P1507A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(H1502L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(M1429I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(A1419V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(I1391V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(R1373Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(R1373W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(A1363T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(R1335H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(R1335G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(R1335C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(N1332D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CASZ1
(A1321V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CASZ1
(Q1308R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CASZ1
Single nucleotide variant
(intron variant)
not provided
GBenign
CASZ1
(K1278N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(R1272Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(A1269V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(H1266R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASZ1
(G1248S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
(E1235K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASZ1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CASZ1
(N1210K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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