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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KATNB1
(V45A)
Single nucleotide variant
(missense variant)
Lissencephaly 6 with microcephaly
GUncertain significance
KATNB1
(S21N)
Single nucleotide variant
(missense variant)
Lissencephaly 6 with microcephaly
GUncertain significance
KATNB1
(L302M)
Single nucleotide variant
(missense variant)
Lissencephaly 6 with microcephaly
GUncertain significance
KATNB1
(F403Y)
Single nucleotide variant
(missense variant)
Lissencephaly 6 with microcephaly
GUncertain significance
KATNB1
(R34W)
Single nucleotide variant
(missense variant)
Lissencephaly 6 with microcephaly
GUncertain significance
KATNB1
(A453F)
Indel
(missense variant)
Lissencephaly 6 with microcephaly
+1 more
GUncertain significance
KATNB1
(D520N)
Single nucleotide variant
(missense variant)
Lissencephaly 6 with microcephaly
+2 more
GConflicting classifications of pathogenicity
KATNB1
(R44H)
Single nucleotide variant
(missense variant)
Lissencephaly 6 with microcephaly
GUncertain significance
KATNB1
Single nucleotide variant
(splice donor variant)
KATNB1-related disorder
+1 more
GLikely pathogenic
KATNB1
Single nucleotide variant
(intron variant)
Lissencephaly 6 with microcephaly
+1 more
GBenign
KATNB1
Single nucleotide variant
(synonymous variant)
Lissencephaly 6 with microcephaly
+1 more
GBenign
KATNB1
Single nucleotide variant
(intron variant)
Lissencephaly 6 with microcephaly
+1 more
GConflicting classifications of pathogenicity
KATNB1
Single nucleotide variant
(splice donor variant)
Lissencephaly 6 with microcephaly
GPathogenic
KATNB1
(G33W)
Single nucleotide variant
(missense variant)
Lissencephaly 6 with microcephaly
GPathogenic
KATNB1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly 6 with microcephaly
GPathogenic
KATNB1
(V150fs)
Deletion
(frameshift variant)
Lissencephaly 6 with microcephaly
GPathogenic
KATNB1
(L540R)
Single nucleotide variant
(missense variant)
Lissencephaly 6 with microcephaly
GPathogenic
KATNB1
(S535L)
Single nucleotide variant
(missense variant)
Lissencephaly 6 with microcephaly
GPathogenic
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