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Links from MedGen

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIFBP
(G366E)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP, LOC130003959
(Y33*)
Single nucleotide variant
(nonsense)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP, LOC130003959
(K36fs)
Deletion
(frameshift variant)
Goldberg-Shprintzen syndrome
GLikely pathogenic
KIFBP
(M329V)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP, LOC130003959
(E45fs)
Duplication
(frameshift variant)
Goldberg-Shprintzen syndrome
GPathogenic
KIFBP
(E301K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEK9
(R583W +2 more)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GLikely pathogenic
NEK9
(E73D)
Single nucleotide variant
(missense variant +1 more)
Goldberg-Shprintzen syndrome
GLikely pathogenic
KIFBP
(S512*)
Single nucleotide variant
(nonsense)
Goldberg-Shprintzen syndrome
GPathogenic
KIFBP
(E394fs)
Deletion
(frameshift variant)
Goldberg-Shprintzen syndrome
GPathogenic
KIFBP
(H575fs)
Deletion
(frameshift variant)
Goldberg-Shprintzen syndrome
GLikely pathogenic
KIFBP
(E57*)
Single nucleotide variant
(nonsense)
Goldberg-Shprintzen syndrome
GLikely pathogenic
KIFBP
(K556Q)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
(V539I)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
+1 more
GUncertain significance
KIFBP
(T458I)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
(R442T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIFBP
Single nucleotide variant
(intron variant)
Goldberg-Shprintzen syndrome
+1 more
GBenign/Likely benign
KIFBP
Single nucleotide variant
(synonymous variant)
Goldberg-Shprintzen syndrome
+2 more
GConflicting classifications of pathogenicity
KIFBP
Single nucleotide variant
(intron variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(synonymous variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
(E240K)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GBenign
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GBenign
KIFBP
(T108A)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(synonymous variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
(L101F)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
(G68R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
KIFBP, LOC130003959
(A41P)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP, LOC130003959
(A39G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(3 prime UTR variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
Single nucleotide variant
(synonymous variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
(A590T)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP, LOC130003959
Single nucleotide variant
(synonymous variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP, LOC130003959
Single nucleotide variant
(synonymous variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP, LOC130003959
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIFBP
Deletion
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
(E565fs)
Microsatellite
(frameshift variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
(P189S)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP
(S427G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIFBP
(R549*)
Single nucleotide variant
(nonsense)
Goldberg-Shprintzen syndrome
+1 more
GConflicting classifications of pathogenicity
KIFBP
(I506fs)
Duplication
(frameshift variant)
KIFBP-related disorder
+1 more
GConflicting classifications of pathogenicity
KIFBP
(Q326*)
Single nucleotide variant
(nonsense)
Goldberg-Shprintzen syndrome
GPathogenic
KIFBP
(I261V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIFBP
(A362fs)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIFBP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KIFBP
Deletion
Goldberg-Shprintzen syndrome
GPathogenic
KIFBP
(R202fs)
Deletion
(frameshift variant)
Goldberg-Shprintzen syndrome
GPathogenic
KIFBP
(S200*)
Single nucleotide variant
(nonsense)
Goldberg-Shprintzen syndrome
+1 more
GPathogenic
KIFBP
(E309K)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
GUncertain significance
KIFBP, LOC130003959
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KIFBP, LOC130003959
(E23G)
Single nucleotide variant
(missense variant)
KIFBP-related disorder
+3 more
GBenign/Likely benign
KIFBP
(M173T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
KIFBP
(G66S)
Single nucleotide variant
(missense variant)
Goldberg-Shprintzen syndrome
+2 more
GBenign
KIFBP
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
KIFBP
Single nucleotide variant
(synonymous variant)
Goldberg-Shprintzen syndrome
+2 more
GBenign
KIFBP
Single nucleotide variant
(synonymous variant)
Goldberg-Shprintzen syndrome
+2 more
GConflicting classifications of pathogenicity
KIFBP
Single nucleotide variant
(synonymous variant)
Goldberg-Shprintzen syndrome
+2 more
GBenign
KIFBP
(E84*)
Single nucleotide variant
(nonsense)
Goldberg-Shprintzen syndrome
GPathogenic
KIFBP
(R90*)
Single nucleotide variant
(nonsense)
Goldberg-Shprintzen syndrome
GPathogenic
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