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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF7, LOC126862216
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
KIF7, LOC126862216
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
KIF7, LOC126862216
Single nucleotide variant
(synonymous variant)
KIF7-related condition
+2 more
GConflicting classifications of pathogenicity
KIF7, LOC126862216
(R1151C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF7, LOC126862216
(E1143G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
KIF7, LOC126862216
(W1137R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF7, LOC126862216
(H1115Q)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia, Al-Gazali type
+4 more
GBenign/Likely benign
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