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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS6KA3
(Q508*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+7 more
GPathogenic
CLDN3, CLDN4
+23 more
Copy number loss
Decreased body weight
+14 more
GPathogenic
Translocation
Impaired social interactions
+13 more
GPathogenic
Translocation
Gastrostomy tube feeding in infancy
+28 more
GUncertain significance
RET
(M918T +17 more)
Single nucleotide variant
(missense variant)
not provided
+17 more
GPathogenic/Likely pathogenic
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