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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF22
(R398* +1 more)
Single nucleotide variant
(nonsense)
Spondyloepimetaphyseal dysplasia with multiple dislocations
GUncertain significance
KIF22
(A131G +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
GUncertain significance
KIF22
Deletion
(inframe_deletion)
Spondyloepimetaphyseal dysplasia with multiple dislocations
GUncertain significance
KIF22
(R49Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spondyloepimetaphyseal dysplasia with multiple dislocations
GPathogenic
KIF22
(A121T +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
GUncertain significance
KIF22
(R43C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spondyloepimetaphyseal dysplasia with multiple dislocations
+1 more
GUncertain significance
KIF22
(E399K +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
GLikely pathogenic
KIF22
(P214H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF22
(L183P +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
GLikely pathogenic
KIF22
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
+1 more
GBenign
KIF22
(A3V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spondyloepimetaphyseal dysplasia with multiple dislocations
+1 more
GUncertain significance
KIF22
(S538R +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
+1 more
GUncertain significance
KIF22
(H481Q +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
+1 more
GUncertain significance
KIF22
(W100R +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
GUncertain significance
KIF22
(P476A +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
GUncertain significance
KIF22
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
KIF22
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
+1 more
GBenign/Likely benign
KIF22
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
+1 more
GBenign/Likely benign
KIF22
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
KIF22
(S462N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF22
(V475G +1 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with multiple dislocations
GUncertain significance
KIF22
(T463A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KIF22
(R149L +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
KIF22
(R149Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KIF22
(P148L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
KIF22
(P148S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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