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Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL, AHCYL1
+333 more
Copy number loss
See cases
GPathogenic
ELAPOR1, EPS8L3
+276 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+242 more
Deletion
Autism
GLikely pathogenic
LINC01780, LINC02868
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+274 more
Copy number loss
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
KCNA3
(S552C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(P546S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KCNA3
(M537I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(M537T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(G535A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(S525N)
Single nucleotide variant
(missense variant)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(V478M)
Single nucleotide variant
(missense variant +1 more)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(P477H)
Single nucleotide variant
(missense variant +1 more)
KCNA3-associated disorder
+1 more
GLikely pathogenic
KCNA3
(G468V)
Single nucleotide variant
(missense variant +1 more)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(G468F)
Indel
(missense variant +1 more)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(G468R)
Single nucleotide variant
(missense variant +1 more)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(V460M)
Single nucleotide variant
(missense variant +1 more)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(I455V)
Single nucleotide variant
(missense variant +1 more)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(T443I)
Single nucleotide variant
(missense variant)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(I431N)
Single nucleotide variant
(missense variant)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(P424L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(L398V)
Single nucleotide variant
(missense variant)
KCNA3-related disorder
GUncertain significance
KCNA3
(A361T)
Single nucleotide variant
(missense variant)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(A357V)
Single nucleotide variant
(missense variant)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
KCNA3
(Q356E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA3
(A286S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(R285G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(G283E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(D272Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(P266T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KCNA3
(R214H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(R205L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(R205W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(R135L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(K134R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA3
(L113V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(G112R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(E104K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(P94L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(P91S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(P90L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(P90S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(L89P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(P57L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(G46D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3, LOC129931151
(G31R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3, LOC129931151
(P23S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3, LOC129931151
(A20S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3, LOC129931151
(R17S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3, LOC129931151
(P13S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA3
(P11R)
Single nucleotide variant
(missense variant)
KCNA3-associated developmental and epileptic encephalopathy
GLikely pathogenic
ADORA3, AHCYL1
+48 more
Copy number loss
not specified
GUncertain significance
KCNA2, KCNA3
Copy number gain
not specified
GUncertain significance
ADORA3, AHCYL1
+77 more
Copy number loss
not provided
GPathogenic
ADORA3, AHCYL1
+54 more
Copy number loss
not provided
GPathogenic
ADORA3, AP4B1
+34 more
Deletion
not provided
GPathogenic
AHCYL1, AKNAD1
+52 more
Deletion
Hereditary spastic paraplegia 63
+1 more
GPathogenic
KCNA10, KCNA2
+7 more
Copy number gain
not provided
GUncertain significance
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
ATP1A1, RAP1A
+131 more
Copy number loss
Seizure
+1 more
GPathogenic
ADORA3, ATP5PB
+19 more
Copy number loss
not provided
GPathogenic
AHCYL1, AKNAD1
+47 more
Deletion
not provided
Gnot provided
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
KCNA3
(G456R)
Single nucleotide variant
(missense variant +1 more)
KCNA3-associated disorder
GLikely pathogenic
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