U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CENPJ, RNF17
(Q1314*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CENPJ, RNF17
(V1308I)
Single nucleotide variant
(missense variant +1 more)
Seckel syndrome 4
+3 more
GConflicting classifications of pathogenicity
CENPJ, RNF17
Microsatellite
(intron variant)
Primary Microcephaly, Recessive
+5 more
GBenign
CENPJ, RNF17
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
CENPJ, RNF17
(Y1210del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
RNF17, CENPJ
(E1180*)
Indel
(nonsense +1 more)
not provided
GLikely pathogenic
CENPJ, RNF17
(D1148H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ, RNF17
(E1142K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CENPJ, RNF17
(S1107P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
CENPJ
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CENPJ
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
CENPJ
(R1007W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(Q1002K)
Indel
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
Duplication
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CENPJ
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CENPJ
(Q951R)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CENPJ
(K874R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(T824S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CENPJ
(T821M)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
CENPJ
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
CENPJ
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
CENPJ
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GBenign
CENPJ
(R612W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(L561fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CENPJ
(E505K)
Single nucleotide variant
(missense variant +1 more)
Seckel syndrome 4
+2 more
GConflicting classifications of pathogenicity
CENPJ
(T504A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(P470L)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 6, primary, autosomal recessive
+2 more
GUncertain significance
CENPJ
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
CENPJ
(E430Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(E352Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(Y341D)
Single nucleotide variant
(missense variant +1 more)
CENPJ-related condition
+4 more
GConflicting classifications of pathogenicity
CENPJ
Indel
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
CENPJ
(T255A)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
CENPJ
(C216R)
Single nucleotide variant
(missense variant +1 more)
CENPJ-related condition
+5 more
GConflicting classifications of pathogenicity
CENPJ
(C186R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(K156Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(I126L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CENPJ
(P85T)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign
CENPJ
(K79R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(T59A)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CENPJ
(P55A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GBenign/Likely benign
CENPJ
(N23S)
Single nucleotide variant
(missense variant +1 more)
Seckel syndrome 4
+3 more
GBenign/Likely benign
CENPJ
(M21L)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign
CENPJ
(M21V)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign
Format
Items per page
Sort by
Choose Destination