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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF14
(G1124S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KIF14
(A925D +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 20, primary, autosomal recessive
GUncertain significance
KIF14
(H33D +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 20, primary, autosomal recessive
GUncertain significance
KIF14
(T395M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF14
(T199A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Microcephaly 20, primary, autosomal recessive
GUncertain significance
KIF14
(R35*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Microcephaly 20, primary, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
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