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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CENPJ, RNF17
(E1235V)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 6, primary, autosomal recessive
GPathogenic
RNF17, CENPJ
(N1102S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CENPJ
(S1081fs)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CENPJ
(Q893P)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 6, primary, autosomal recessive
Gnot provided
CENPJ
(S879A)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign
CENPJ
(E151G)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 6, primary, autosomal recessive
+1 more
GUncertain significance
CENPJ
(T97A)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 6, primary, autosomal recessive
+2 more
GUncertain significance
CENPJ
(D63H)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
CENPJ
(P55A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GBenign/Likely benign
CENPJ
(M21V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+4 more
GBenign
CENPJ
(S7fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
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