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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEK1
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
+3 more
GConflicting classifications of pathogenicity
NEK1
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis, susceptibility to, 24
+3 more
GBenign/Likely benign
NEK1
(S1036* +6 more)
Single nucleotide variant
(nonsense +1 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
+3 more
GPathogenic/Likely pathogenic
NEK1
(H1016R +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NEK1
(T982S +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NEK1
(E932G +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NEK1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
NEK1
(C855R +5 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
+1 more
GConflicting classifications of pathogenicity
NEK1
(G797V +6 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+1 more
GUncertain significance
NEK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GUncertain significance
NEK1
(Q751E +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NEK1
(N717K +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
NEK1
(V685M +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
NEK1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
NEK1
(F569I +6 more)
Single nucleotide variant
(missense variant +1 more)
Motor neuron disease
+2 more
GConflicting classifications of pathogenicity
NEK1
(D379E)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis, susceptibility to, 24
+4 more
GConflicting classifications of pathogenicity
NEK1
Duplication
(intron variant)
Short rib-polydactyly syndrome
+2 more
GBenign/Likely benign
NEK1
(A341T)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+9 more
GConflicting classifications of pathogenicity
NEK1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
NEK1
(R261H)
Single nucleotide variant
(missense variant +1 more)
NEK1-related condition
+4 more
GConflicting classifications of pathogenicity
NEK1
(D230G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NEK1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
NEK1
(V98I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
NEK1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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