U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KNL1
(A594T +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
Gnot provided
KNL1
(A493T +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(C1847W +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(M74L)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(L1164M +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
Gnot provided
KNL1
Deletion
(splice donor variant)
Microcephaly 4, primary, autosomal recessive
GLikely pathogenic
KNL1
(Q2195R +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(S1022N +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(G359fs +1 more)
Deletion
(frameshift variant)
Microcephaly 4, primary, autosomal recessive
GPathogenic
KNL1
Deletion
(nonsense)
Microcephaly 4, primary, autosomal recessive
GLikely pathogenic
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GBenign
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GBenign
KNL1
Deletion
(intron variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GBenign
KNL1
Duplication
(intron variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GBenign
KNL1
(D1047N +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(K1686N +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(T721K +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(I672V +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(N465H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
KNL1
(K846N +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(N1977K +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(I1854V +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(S623G +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(3 prime UTR variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(3 prime UTR variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(H1797Q +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(N1758S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(L1110V +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(S1093N +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(Q611R +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(I534K +1 more)
Single nucleotide variant
(missense variant)
KNL1-related disorder
+1 more
GConflicting classifications of pathogenicity
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(N48S)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(3 prime UTR variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(R2147C +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(T2131I +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(I1678V +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(synonymous variant)
KNL1-related disorder
+1 more
GConflicting classifications of pathogenicity
KNL1
(I477V +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(N451S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(V4L)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(5 prime UTR variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(5 prime UTR variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(N2072S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(N1525D +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(E857K +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(G783S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(I798T +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(D317N +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KNL1
(K632R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
KNL1
(P2044L +1 more)
Single nucleotide variant
(missense variant)
KNL1-related disorder
+2 more
GBenign/Likely benign
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GBenign/Likely benign
KNL1
(M2015L +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GBenign/Likely benign
KNL1
(M151V +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GBenign/Likely benign
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
GLikely pathogenic
KNL1
(D2143Y +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GLikely pathogenic
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GBenign/Likely benign
KNL1
(L1582fs +1 more)
Indel
(frameshift variant)
Microcephaly 4, primary, autosomal recessive
GLikely pathogenic
KNL1
(G1437R +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
KNL1
(P683L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KNL1
(P2292A +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
KNL1
(N1617S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KNL1
(D431G +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
+2 more
GUncertain significance
KNL1
Single nucleotide variant
(3 prime UTR variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(intron variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KNL1
(P2192R +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GUncertain significance
KNL1
(L1876V +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KNL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KNL1
(D1801N +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(E1745D +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(H1606L +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(G1540E +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
KNL1
(N1517I +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(S1495R +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(V1465L +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GUncertain significance
KNL1
(P1334S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GLikely benign
KNL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KNL1
(A1294V +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(I1191M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KNL1
(V1014E +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
KNL1
(R910G +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 4, primary, autosomal recessive
+1 more
GBenign
KNL1
Single nucleotide variant
(synonymous variant)
Microcephaly 4, primary, autosomal recessive
GUncertain significance
Format
Items per page
Sort by
Choose Destination