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Items: 1 to 100 of 1238064

  • The following terms were not found in ClinVar: Dibutan, ylhydrazine.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OR4F5
(E36G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR4F5
(I96S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4F5
(M132I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4F5
(P185R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4F5
(V219M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4F5
(I235T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4F5
(S248P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4F5
(S323T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
SAMD11
(S181C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(G183E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(Q186L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(I191T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(S21F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SAMD11
Microsatellite
(intron variant)
SAMD11-related disorder
GLikely benign
SAMD11
(R26W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R207W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(V35A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(A36T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(A36V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(P217R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(P38L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(A219T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SAMD11
(A219V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R41W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(K224E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(E225K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(P228R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(S229G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(S233N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(G239R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(G239A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(S61R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(C65G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(G245E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R67W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R247W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(P77R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(P77L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(I258V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SAMD11
(R259G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R259L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R259H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(I260V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(I260T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(M261T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(K262T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R85K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(V86A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(V86D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(H266Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(H87R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(H89Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(H89R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R97Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SAMD11
(S102N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(G105S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SAMD11
(L107F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(T109S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(S113G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(V293I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(H115R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(H115Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R118L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SAMD11
(M301I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(P123A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(E124Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(E303K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(H125Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SAMD11
(S127N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(S127R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R307C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(R128H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(C129R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(C308W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(E130D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(F131C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R312K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(S135I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(E316K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(G139D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R141Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SAMD11
(P321L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(A143T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(G144S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(L151P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(R153C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R153H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(S154P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(S333Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(S333F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R156C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SAMD11
(R156L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(D160Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(D160N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(E343K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(K165T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R168Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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