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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEK1
(Q505* +6 more)
Single nucleotide variant
(nonsense +1 more)
Amyotrophic lateral sclerosis, susceptibility to, 24
GLikely pathogenic
NEK1
(Q400* +3 more)
Single nucleotide variant
(nonsense +1 more)
Amyotrophic lateral sclerosis, susceptibility to, 24
GLikely pathogenic
NEK1
Single nucleotide variant
(intron variant +1 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
+1 more
GLikely pathogenic
NEK1
(R556* +5 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+2 more
GPathogenic
NEK1
(Y1119H +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis, susceptibility to, 24
GUncertain significance
NEK1
(E745* +6 more)
Single nucleotide variant
(nonsense +1 more)
Amyotrophic lateral sclerosis, susceptibility to, 24
GLikely pathogenic
NEK1
(E698D +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis, susceptibility to, 24
GUncertain significance
NEK1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis, susceptibility to, 24
GLikely benign
NEK1
(A614G +5 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
+2 more
GUncertain significance
NEK1
(R550* +4 more)
Single nucleotide variant
(nonsense +1 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
GPathogenic
NEK1
(R812* +6 more)
Single nucleotide variant
(nonsense +1 more)
Amyotrophic lateral sclerosis, susceptibility to, 24
Grisk factor
NEK1
Microsatellite
(nonsense +1 more)
Amyotrophic lateral sclerosis, susceptibility to, 24
+1 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
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GUncertain significance
NEK1
(D379E)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
NEK1
(S1036* +6 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
NEK1
(R261H)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 6 with or without polydactyly
+4 more
GConflicting classifications of pathogenicity
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