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Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF7
(P1333Q)
Single nucleotide variant
(missense variant)
KIF7-related condition
+2 more
GConflicting classifications of pathogenicity
KIF7
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
KIF7
(P1315L)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
+2 more
GConflicting classifications of pathogenicity
KIF7
(R1305Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KIF7
(S1281I)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia, Al-Gazali type
+2 more
GConflicting classifications of pathogenicity
KIF7
Single nucleotide variant
(synonymous variant)
KIF7-related condition
+2 more
GConflicting classifications of pathogenicity
KIF7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
+1 more
GConflicting classifications of pathogenicity
KIF7, LOC126862216
Single nucleotide variant
(intron variant)
not provided
+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)
not provided
+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)
not specified
+4 more
GBenign/Likely benign
KIF7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
(R1071W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF7
(R1066C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF7
Insertion
(intron variant)
not provided
+4 more
GBenign
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
+1 more
GBenign/Likely benign
KIF7
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
KIF7
Single nucleotide variant
(synonymous variant)
KIF7-related condition
+2 more
GConflicting classifications of pathogenicity
KIF7
(G1005R)
Single nucleotide variant
(missense variant)
Hydrolethalus syndrome 2
+4 more
GBenign
KIF7
(Q994R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
KIF7
(E987V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF7
(E987K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
KIF7
(R977Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF7
(R973G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
KIF7
(A966V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF7
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
KIF7
(S958I)
Single nucleotide variant
(missense variant)
Hydrolethalus syndrome 2
+4 more
GBenign
KIF7
(T954M)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
+1 more
GConflicting classifications of pathogenicity
KIF7
Microsatellite
(intron variant)
not provided
+1 more
GBenign/Likely benign
KIF7
(R891T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
KIF7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
(R862H)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
+1 more
GUncertain significance
KIF7
(R850L)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
+1 more
GConflicting classifications of pathogenicity
KIF7
(Q834R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
KIF7
(K819T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF7
(R809Q)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
+2 more
GUncertain significance
KIF7
(T807M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
KIF7
(E779Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
KIF7
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
KIF7
(R746Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
(R746W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KIF7
(Q740R)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
+1 more
GUncertain significance
KIF7
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
Single nucleotide variant
(intron variant)
Acrocallosal syndrome
+3 more
GConflicting classifications of pathogenicity
KIF7
(R702Q)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia, Al-Gazali type
+3 more
GUncertain significance
KIF7
(A653V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF7
(P632L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
KIF7
(E629K)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
+4 more
GBenign/Likely benign
KIF7
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
KIF7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
KIF7
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
(A477T)
Single nucleotide variant
(missense variant)
Acrocallosal syndrome
+4 more
GBenign/Likely benign
KIF7
(A473G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
(R424C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
+2 more
GBenign/Likely benign
KIF7
(A407D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
KIF7
(A397T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
KIF7
(G393C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
KIF7
(G388S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF7
(T368A)
Single nucleotide variant
(missense variant)
KIF7-related condition
+5 more
GBenign
KIF7
(P365T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KIF7
(Y342F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
+1 more
GConflicting classifications of pathogenicity
KIF7
(K247N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
KIF7
Single nucleotide variant
(synonymous variant)
KIF7-related condition
+3 more
GConflicting classifications of pathogenicity
KIF7
Single nucleotide variant
(synonymous variant)
Acrocallosal syndrome
+1 more
GConflicting classifications of pathogenicity
KIF7
(R164G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF7
(R154Q)
Single nucleotide variant
(missense variant)
KIF7-related ciliopathy spectrum disorder
+2 more
GUncertain significance
KIF7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
Single nucleotide variant
(synonymous variant)
Hydrolethalus syndrome 2
+4 more
GBenign
KIF7
(H54Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF7
(D52N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
KIF7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF7
(R21*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
KIF7
(R17W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
KIF7
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign/Likely benign
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