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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF14
(Y424N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
GUncertain significance
KIF14
Single nucleotide variant
(synonymous variant)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
+2 more
GBenign
KIF14
Single nucleotide variant
(synonymous variant)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
+2 more
GBenign
KIF14
(P1142A +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 20, primary, autosomal recessive
+2 more
GBenign
KIF14
(A114S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
KIF14
(M383V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
KIF14
(G1462E +1 more)
Single nucleotide variant
(missense variant)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
GUncertain significance
KIF14
(L14P +1 more)
Single nucleotide variant
(missense variant)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
GLikely pathogenic
KIF14
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KIF14
(V363I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GLikely benign
KIF14
(K1426Q +1 more)
Single nucleotide variant
(missense variant)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
+1 more
GUncertain significance
KIF14
Single nucleotide variant
(intron variant)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
+1 more
GUncertain significance
KIF14
(R594* +1 more)
Single nucleotide variant
(nonsense)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
GPathogenic
KIF14
(E584fs +1 more)
Deletion
(frameshift variant)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
GPathogenic
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