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Items: 83

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+1753 more
Copy number gain
See cases
GPathogenic
APOH, AXIN2
+109 more
Copy number loss
See cases
GPathogenic
CEP112
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CEP112
(V892A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(L919P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(K913E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(I861V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(E151A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(H147Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(L847I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(E844Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(R139L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(E874K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112, LOC126862619
Copy number loss
See cases
GUncertain significance
CEP112
(L818M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(Q107R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP112
(E797K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(S735L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(V741L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(V741M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(M727V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(D725N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP112
(R702C +2 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 44
GPathogenic
CEP112
(R692W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(V620A +2 more)
Single nucleotide variant
(missense variant)
CEP112-related disorder
GLikely benign
CEP112
(K616N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(A560T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(Q555P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(K569N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(D561V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(K486R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(S462T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(Y442C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP112
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP112
(E432Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(D467N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(R417H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(C407Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(Q388R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(R374H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(A402G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(R349H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(E380K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(Q376K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(A322G +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CEP112
(Q346R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(I337V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(R324C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(I253K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(D245E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(K239R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP112
(K193E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(R166*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 44
GPathogenic
CEP112
(P152L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(S151L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(L148S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(T147A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(K139R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(I94V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(G90R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(A78E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(A78V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CEP112
(G59R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(L42V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(R37W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(V28F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP112
(V22I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APOH, CACNG5
+2 more
Copy number gain
not specified
GUncertain significance
CEP112
Copy number loss
not provided
GLikely benign
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
APOH, CEP112
+1 more
Copy number gain
See cases
GUncertain significance
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
LLGL2, MAP2K6
+119 more
Copy number gain
not provided
GLikely pathogenic
AANAT, AATK
+222 more
Copy number gain
not provided
GPathogenic
APOH, PRKCA
+1 more
Copy number gain
not provided
GUncertain significance
EFTUD2, EIF1
+1143 more
Copy number gain
See cases
GPathogenic
KRT15, KRT16
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
ACE, APOH
+48 more
Copy number gain
See cases
GPathogenic
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