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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
ARTN, ATP6V0B
+279 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+253 more
Copy number loss
See cases
GPathogenic
ARMH1, ARTN
+88 more
Copy number gain
See cases
GUncertain significance
CCDC24
(S5C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CCDC24
(H15D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CCDC24
(E30Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CCDC24
(E52G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(R54P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(R82H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(L85F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(H94Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC24
(I97T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CCDC24
(D102G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(F132L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(Q133H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(S147I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(V155M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(V27L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(E188G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(P260L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC24
(R139Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CCDC24
(A306S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(P163L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC24
(A171T +2 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GUncertain significance
ARTN, ATP6V0B
+6 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
ARTN, ATP6V0B
+6 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
AKR1A1, ARMH1
+39 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
AKR1A1, ARMH1
+36 more
Copy number gain
See cases
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
ARTN, ATP6V0B
+6 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GLikely pathogenic
IPO13, ERI3
+11 more
Copy number loss
not provided
GUncertain significance
ARTN, ATP6V0B
+24 more
Copy number loss
not provided
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ARTN, ATP6V0B
+36 more
Copy number loss
See cases
GPathogenic
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