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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOX5
(R436* +4 more)
Single nucleotide variant
(nonsense +1 more)
Lamb-Shaffer syndrome
GPathogenic
SOX5
(G41V +4 more)
Single nucleotide variant
(missense variant +1 more)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(P399H +4 more)
Single nucleotide variant
(missense variant +1 more)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(G346S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SOX5
(G341* +3 more)
Single nucleotide variant
(nonsense)
Lamb-Shaffer syndrome
GPathogenic
SOX5
(Q253H +3 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(R108L +3 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(T74I +2 more)
Single nucleotide variant
(missense variant +1 more)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(S58P +2 more)
Single nucleotide variant
(missense variant +1 more)
Lamb-Shaffer syndrome
GUncertain significance
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