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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR4
(M1V)
Single nucleotide variant
(missense variant +3 more)
Microcephaly, growth deficiency, seizures, and brain malformations
GLikely pathogenic
WDR4
(R89H)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
WDR4
(T13M)
Single nucleotide variant
(missense variant +2 more)
Microcephaly, growth deficiency, seizures, and brain malformations
+1 more
GUncertain significance
WDR4
(K71N)
Single nucleotide variant
(missense variant +2 more)
Microcephaly, growth deficiency, seizures, and brain malformations
+2 more
GBenign
WDR4
(R244Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 6
+2 more
GBenign
WDR4
Single nucleotide variant
(intron variant)
Galloway-Mowat syndrome 6
+2 more
GBenign
WDR4
Single nucleotide variant
(intron variant)
Microcephaly, growth deficiency, seizures, and brain malformations
+2 more
GBenign
WDR4
(P120S +2 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly, growth deficiency, seizures, and brain malformations
+2 more
GBenign
WDR4
(T25A)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
WDR4
(Y72H +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly, growth deficiency, seizures, and brain malformations
GUncertain significance
WDR4
Single nucleotide variant
(synonymous variant +2 more)
Microcephaly, growth deficiency, seizures, and brain malformations
+2 more
GBenign/Likely benign
WDR4
(R170L +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly, growth deficiency, seizures, and brain malformations
+1 more
GConflicting classifications of pathogenicity
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