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Items: 1 to 100 of 122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RERE
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(N207fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic
RERE
Duplication
(intron variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(E1486G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(S646T +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P386L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
Deletion
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P322S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(H1020Q +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(L434Q +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
Deletion
(inframe_deletion)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic
RERE
(G46V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(A338V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(R1467G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(L1444R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(K1161E +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P290S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
(R360Q +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(K1177N +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(A1127T +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P208L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(K645del +1 more)
Deletion
(inframe_deletion)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
(R1305Q +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(G25S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
Duplication
(inframe_insertion)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
Deletion
(inframe_deletion)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(I1314L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P1046S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P80S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(K48R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P1471L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(N75S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(H313R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(Q326fs +1 more)
Deletion
(frameshift variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GPathogenic
RERE
(T213M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RERE
(A658V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+2 more
GConflicting classifications of pathogenicity
RERE
(P330S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(K48E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely benign
RERE
(Q384H +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(Q323K +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(R117fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic
RERE
(Q354* +1 more)
Indel
(nonsense)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic
RERE
(P378A +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
Deletion
(inframe_deletion)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic
RERE
(E1197D +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P1046A +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(H301Q +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(R15W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(G299S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RERE
(P1476L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GPathogenic
RERE
(R448Q)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(K25fs)
Microsatellite
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic
RERE
Single nucleotide variant
(synonymous variant +1 more)
RERE-related disorder
+2 more
GBenign/Likely benign
RERE
(V233I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+3 more
GConflicting classifications of pathogenicity
RERE
(A152fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GPathogenic/Likely pathogenic
RERE
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic
RERE
(R39Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(N154D +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(K426Q)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GBenign
RERE
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GBenign
RERE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RERE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RERE
(N1342* +1 more)
Insertion
(nonsense)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic
RERE
(R34W +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
(S17N +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(R1146W +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
(P368A +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(T397I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P1283S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RERE
(S970L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
(L353P +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(A1348S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(E779D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
RERE
(T714N +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
(A606V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(A520E +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P1053L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RERE
(P478H +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(S286F +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(E561fs +1 more)
Deletion
(frameshift variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GConflicting classifications of pathogenicity
RERE
(P297L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P1032S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(G1156W +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(V1452I +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
(P400L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GBenign
RERE
(P254T +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(R642Q +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(G212E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P836L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(K81E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(Y236C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P1510T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
RERE
Microsatellite
(inframe_insertion)
not provided
+2 more
GBenign
RERE
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
RERE
Microsatellite
(inframe_deletion)
not provided
+2 more
GBenign/Likely benign
RERE
Microsatellite
(inframe_insertion)
not provided
+2 more
GBenign/Likely benign
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