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Links from MedGen

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CENPF
(Q995*)
Single nucleotide variant
(nonsense)
Stromme syndrome
GLikely pathogenic
CENPF
(Q1235*)
Single nucleotide variant
(nonsense)
Stromme syndrome
GPathogenic
CENPF
(Q2720R +1 more)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(S838*)
Single nucleotide variant
(nonsense)
Stromme syndrome
GLikely pathogenic
CENPF
(M670I)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(S2072P +1 more)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(R1642Q +1 more)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GConflicting classifications of pathogenicity
CENPF
Single nucleotide variant
(synonymous variant)
Stromme syndrome
GUncertain significance
CENPF, LOC126806006
(Q116E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CENPF
Single nucleotide variant
(synonymous variant)
Stromme syndrome
+1 more
GBenign
CENPF
(L1412S)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(T1105I)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(G1033R)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(Y1018D)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
Single nucleotide variant
(synonymous variant)
Stromme syndrome
+1 more
GBenign
CENPF
(R815H)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(Q754E)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(M701V)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
Single nucleotide variant
(synonymous variant)
Stromme syndrome
+1 more
GBenign
CENPF
(H494Q)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
Single nucleotide variant
(synonymous variant)
Stromme syndrome
+1 more
GBenign
CENPF
(N3106K)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(R2943G)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(R2729Q)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
Single nucleotide variant
(synonymous variant)
Stromme syndrome
+1 more
GBenign
CENPF
Single nucleotide variant
(synonymous variant)
Stromme syndrome
+1 more
GBenign
CENPF
Single nucleotide variant
(synonymous variant)
Stromme syndrome
+1 more
GBenign
CENPF
(N2396D)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(A2356V)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(Q2225R)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(A2139T)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(S2044L)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(E2011A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CENPF
(D1978G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CENPF
(H1770Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CENPF
(D1768N)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(A1515T)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign
CENPF
(R1879C)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign/Likely benign
CENPF
(H1082Y)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GBenign/Likely benign
CENPF
(D136G)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(Q2549H)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(S2436L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CENPF
(N1455S)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(P13S)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(M2795I)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(L2334F)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(R1667*)
Single nucleotide variant
(nonsense)
Stromme syndrome
+1 more
GPathogenic/Likely pathogenic
CENPF
(E1081V)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
Single nucleotide variant
(splice donor variant)
Stromme syndrome
GPathogenic
CENPF
(T3067M)
Single nucleotide variant
(missense variant)
Stromme syndrome
GLikely benign
CENPF
(E2940Q)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GUncertain significance
CENPF
(M1142V)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
Single nucleotide variant
(synonymous variant)
Stromme syndrome
+1 more
GBenign/Likely benign
CENPF
Single nucleotide variant
(splice acceptor variant)
Stromme syndrome
GLikely pathogenic
CENPF
(E2547*)
Single nucleotide variant
(nonsense)
Stromme syndrome
GLikely pathogenic
CENPF
(D1397fs)
Deletion
(frameshift variant)
Stromme syndrome
GLikely pathogenic
CENPF
(T1974fs)
Duplication
(frameshift variant)
Stromme syndrome
GPathogenic
CENPF
(S1493D)
Inversion
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(L979fs)
Deletion
(frameshift variant)
Stromme syndrome
GUncertain significance
CENPF
(Y1206C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CENPF
(Q2076H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CENPF
(N2451S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CENPF
(T729I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CENPF
(R3094*)
Single nucleotide variant
(nonsense)
Stromme syndrome
GLikely pathogenic
CENPF, LOC126806006
(N57fs)
Deletion
(frameshift variant)
Stromme syndrome
GPathogenic
CENPF
(E912*)
Single nucleotide variant
(nonsense)
Stromme syndrome
GPathogenic
CENPF
(R2898*)
Single nucleotide variant
(nonsense)
Stromme syndrome
GPathogenic
CENPF
Single nucleotide variant
(splice acceptor variant)
Stromme syndrome
GPathogenic
CENPF
(E582*)
Single nucleotide variant
(nonsense)
Stromme syndrome
+1 more
GPathogenic
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