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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RERE
Microsatellite
(inframe_insertion)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GPathogenic
RERE
(P1046A +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(Q384H +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(P330S +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
(H301Q +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
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