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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETD1B
(G362fs)
Deletion
(frameshift variant)
Intellectual developmental disorder with seizures and language delay
GLikely pathogenic
SETD1B
(G1392fs)
Deletion
(frameshift variant)
Intellectual developmental disorder with seizures and language delay
+1 more
GPathogenic/Likely pathogenic
SETD1B
(L1530F)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with seizures and language delay
GUncertain significance
SETD1B
(S1880fs)
Duplication
(frameshift variant)
Intellectual developmental disorder with seizures and language delay
GLikely pathogenic
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