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Links from MedGen

Items: 1 to 100 of 416

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP83
Deletion
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(K577* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis 18
GPathogenic
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(T527fs +2 more)
Deletion
(frameshift variant +1 more)
Nephronophthisis 18
GPathogenic
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(Q395* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis 18
GPathogenic
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(K286fs +2 more)
Deletion
(frameshift variant +1 more)
Nephronophthisis 18
GPathogenic
CEP83
(R201P +3 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Deletion
Nephronophthisis 18
GPathogenic
CEP83
(R133H +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
(Q546* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis 18
GPathogenic
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GUncertain significance
CEP83
(K361T +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
(F16L)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 18
GUncertain significance
CEP83
(R604H +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(N45D +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 18
GUncertain significance
CEP83
(Y144H +3 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
(E69K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(E282del +2 more)
Microsatellite
(inframe_deletion +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(L394V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Deletion
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(R445G +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
(H164D +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 18
GUncertain significance
CEP83
(V318I +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Deletion
(intron variant)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
(Q689R +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
(R135T +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 18
GUncertain significance
CEP83
Deletion
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(E296A +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
(F545L +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
(N251I +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
(K368Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
(M554R +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
(I644V +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
(E189K +3 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
(A66T +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 18
GUncertain significance
CEP83
(K39T +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 18
GUncertain significance
CEP83
(I461V +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(3 prime UTR variant +2 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(G387D +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GLikely benign
CEP83
(S329L +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
(E443* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis 18
GPathogenic
CEP83
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 18
GLikely benign
CEP83
Single nucleotide variant
(intron variant)
Nephronophthisis 18
GUncertain significance
CEP83
(M579I +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
(P559L +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
CEP83
(S271G +3 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 18
GUncertain significance
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