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Items: 37

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
C1orf210, C1orf50
+91 more
Copy number loss
Epilepsy syndrome
GPathogenic
TMEM125
(L14R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(P16L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(R33G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(S34L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(L36F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(V39I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(C48S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(G51S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(G52S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(S60N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(R62C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(S89W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(N95S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(R98C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(R107H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(T130I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(A146V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(V150L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(L160I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(V172M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(G174R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM125
(R207Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TMEM125
(E210K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1orf210, C1orf50
+20 more
Deletion
not provided
GPathogenic
C1orf210, CFAP144
+4 more
Copy number gain
not provided
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
CDC20, CFAP144
+10 more
Deletion
not provided
GPathogenic
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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