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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF1B
(K1014R)
Single nucleotide variant
(missense variant +1 more)
Neuroblastoma, susceptibility to, 1
GUncertain significance
KIF1B
(D522V +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 1
GUncertain significance
KIF1B
(L796S +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 1
+1 more
GUncertain significance
KIF1B
(R1145H +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 1
+4 more
GUncertain significance
KIF1B
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+4 more
GBenign/Likely benign
KIF1B
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2A1
+4 more
GBenign/Likely benign
KIF1B
(P1217S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
KIF1B
(T827I +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
KIF1B
(E646V +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 1
Grisk factor
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