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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED13L
(S1310R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED13L
(E1220K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MED13L
(F944L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MED13L
(K249N)
Single nucleotide variant
not provided
GUncertain significance
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