U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEK1
(S1019L +6 more)
Single nucleotide variant
(missense variant +1 more)
Motor neuron disease
+1 more
GConflicting classifications of pathogenicity
NEK1
(L770V +6 more)
Single nucleotide variant
(missense variant +1 more)
Motor neuron disease
+1 more
GConflicting classifications of pathogenicity
NEK1
(A762T +6 more)
Single nucleotide variant
(missense variant +1 more)
Motor neuron disease
GLikely benign
NEK1
(H741R +6 more)
Single nucleotide variant
(missense variant +1 more)
Motor neuron disease
+2 more
GConflicting classifications of pathogenicity
NEK1
(N717K +6 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
+3 more
GConflicting classifications of pathogenicity
NEK1
(V685M +6 more)
Single nucleotide variant
(missense variant +1 more)
Motor neuron disease
+3 more
GConflicting classifications of pathogenicity
NEK1
(Q606fs +5 more)
Deletion
(frameshift variant +2 more)
Motor neuron disease
Gother
NEK1
(A566fs +6 more)
Insertion
(frameshift variant +1 more)
Motor neuron disease
GUncertain significance
NEK1
(F569I +6 more)
Single nucleotide variant
(missense variant +1 more)
Motor neuron disease
+2 more
GConflicting classifications of pathogenicity
NEK1
Single nucleotide variant
(intron variant)
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
(A341T)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
+9 more
GConflicting classifications of pathogenicity
NEK1
(C276F)
Single nucleotide variant
(missense variant +1 more)
Motor neuron disease
GUncertain significance
NEK1
(R261H)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
NEK1
(R232H)
Single nucleotide variant
(missense variant +1 more)
Motor neuron disease
+2 more
GConflicting classifications of pathogenicity
NEK1
(R161*)
Single nucleotide variant
(nonsense +1 more)
Motor neuron disease
+2 more
GPathogenic/Likely pathogenic; other
NEK1
(I129S)
Single nucleotide variant
(missense variant +1 more)
Motor neuron disease
GLikely pathogenic
NEK1
Single nucleotide variant
(splice donor variant)
Motor neuron disease
+3 more
GPathogenic/Likely pathogenic; other
Format
Items per page
Sort by
Choose Destination