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Links from Gene

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF5B, LOC126860907
(T843A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5B
(Q86K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5B
(K420N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5B, LOC130003643
(L18F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B, LOC126860907
(S833T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B, LOC126860908
(F52L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(L498P)
Single nucleotide variant
(missense variant)
Feeding difficulties
+3 more
GPathogenic
KIF5B
(L537P)
Single nucleotide variant
(missense variant)
Global developmental delay
+5 more
GPathogenic
KIF5B, LOC126860907
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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