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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
EIF3F
(P11S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EIF3F
(A76C)
Indel
(missense variant)
not provided
GUncertain significance
EIF3F
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder, autosomal recessive 67
+1 more
GBenign
EIF3F
(A240V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EIF3F, LOC126861132
(S267G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EIF3F, LOC126861132
(R306C)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, autosomal recessive 67
+1 more
GUncertain significance
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