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Links from MedGen

Items: 1 to 100 of 173

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CERKL, LOC129935214
(G80S)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 26
GUncertain significance
CERKL
(I399fs +4 more)
Duplication
(frameshift variant +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
(K102*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
(R113fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL, LOC129935214
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
Single nucleotide variant
(intron variant +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
Single nucleotide variant
(intron variant +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
(F382fs +4 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
(M235fs +2 more)
Duplication
(frameshift variant +2 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
Single nucleotide variant
(intron variant +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
(E91fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
(C296* +4 more)
Insertion
(nonsense +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
(L32fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CERKL
(E181*)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
(E129*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL, LOC129935215
(W3fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL, ITGA4
Inversion
(3 prime UTR variant +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa
+1 more
GLikely pathogenic
CERKL
(L252V +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 26
GUncertain significance
CERKL
(A350T +4 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 26
+1 more
GUncertain significance
CERKL
(R500fs +4 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 26
+1 more
GConflicting classifications of pathogenicity
CERKL, ITGA4
(S407fs +4 more)
Duplication
(frameshift variant +2 more)
Retinitis pigmentosa 26
+1 more
GLikely pathogenic
CERKL
(V190fs)
Deletion
(frameshift variant +2 more)
Retinitis pigmentosa
+1 more
GLikely pathogenic
CERKL
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
CERKL, LOC129935214
(V61E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CERKL
(N436fs +4 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CERKL
(P187fs +1 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 26
+1 more
GPathogenic/Likely pathogenic
CERKL
(Y351* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CERKL
(L170fs +4 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 26
+1 more
GPathogenic/Likely pathogenic
CERKL
(E18fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 26
GLikely pathogenic
CERKL
Deletion
(inframe_indel +2 more)
Retinitis pigmentosa 26
GUncertain significance
CERKL
(R106C)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 26
+2 more
GConflicting classifications of pathogenicity
CERKL
(Q38*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CERKL
(P166L)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 26
+1 more
GConflicting classifications of pathogenicity
CERKL
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 26
+1 more
GBenign
CERKL
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 26
+1 more
GBenign
CERKL
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 26
GBenign
CERKL
(L133fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CERKL
(T352fs +4 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CERKL, LOC129935215
(W3*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CERKL
(S208fs +4 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CERKL
(Y351fs +4 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CERKL
(M235fs +2 more)
Deletion
(intron variant +2 more)
not provided
GPathogenic
CERKL
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CERKL
Single nucleotide variant
(intron variant +1 more)
Retinitis pigmentosa 26
+1 more
GPathogenic/Likely pathogenic
CERKL
(F123fs)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CERKL
(Q37*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 26
GPathogenic
CERKL
(S162Y +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(F205S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
CERKL
(L122V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(T183I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CERKL
(R405K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(V283I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL, LOC129935214
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CERKL
(Q240H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(F235S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(T204M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(W279R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
CERKL
(P369L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129935215, CERKL
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
CERKL
(Q203R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL, LOC129935215
(E14G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 26
GUncertain significance
CERKL
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CERKL
(R204C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CERKL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CERKL
(C194* +4 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 26
+1 more
GPathogenic
CERKL
(L227P +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 26
GUncertain significance
CERKL
(N208S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(R105Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CERKL
(G55R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL, LOC129935215
(E14A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(T376S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CERKL
(N415S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(R370Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(Y84H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CERKL
(R45Q)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 26
+1 more
GUncertain significance
CERKL
(V402I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CERKL
(E484D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(K189fs)
Deletion
(frameshift variant +2 more)
Retinitis pigmentosa 26
+1 more
GPathogenic/Likely pathogenic
CERKL
(L413V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(W193* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CERKL
(E19D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CERKL
(T201S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
CERKL
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 26
+1 more
GPathogenic/Likely pathogenic
CERKL
(L172fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CERKL
(R239Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+2 more
GUncertain significance
CERKL
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
CERKL
(V300L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CERKL, ITGA4
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
CERKL
Deletion
(nonsense +1 more)
Retinitis pigmentosa 26
+1 more
GPathogenic/Likely pathogenic
CERKL
(T273I +4 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+1 more
GUncertain significance
CERKL
(C125W)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
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