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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETBP1
(T1387M)
Single nucleotide variant
(missense variant)
Generalized joint hypermobility
+6 more
GConflicting classifications of pathogenicity
GABRA5, GABRB3
+22 more
Copy number gain
Autism
+7 more
GPathogenic
KAT6B
(M643L)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
+6 more
GUncertain significance
VPS13B
(Q407*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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