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Items: 1 to 100 of 959

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+953 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
AGXT2, LOC121725200
+385 more
Copy number gain
See cases
GLikely pathogenic
LOC126807363, LOC126807364
+518 more
Copy number gain
See cases
GPathogenic
LOC126807367, LOC126807368
+254 more
Copy number gain
See cases
GPathogenic
ANXA2R, ANXA2R-AS1
+245 more
Copy number gain
See cases
GPathogenic
HCN1
Copy number loss
See cases
GUncertain significance
HCN1, LOC126807381
+1 more
Copy number loss
See cases
GUncertain significance
HCN1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
HCN1
(A887V)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(A887T)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
HCN1
(A881T)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(D880E)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(P879L)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(P879R)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(P879S)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(P879T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
HCN1
(D878E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HCN1
(D878H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HCN1
(V874L)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(S872F)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(S871F)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(R869K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
HCN1
(R869G)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(A864T)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(P861A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HCN1
(P861T)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
HCN1
(P858fs)
Deletion
(frameshift variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(V856L)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(V856I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(G855E)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(R854P)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GLikely benign
HCN1
(N853K)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(N853K)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HCN1
(P852L)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(P852R)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(P852Q)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(P851A)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(P851S)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(A849S)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
HCN1
(S847W)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(S846W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HCN1
(R843Q)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(R843L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HCN1
(R843G)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(V839F)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(P836L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HCN1
(S833R)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(R832T)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(R832K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HCN1
(G831V)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(G831S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
HCN1
(G830E)
Single nucleotide variant
(missense variant)
HCN1-related disorder
GUncertain significance
HCN1
(G830A)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(G830W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HCN1
(G830R)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(G826D)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(A821V)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Insertion
(inframe_insertion)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(V819M)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Duplication
(inframe_insertion)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(P816R)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(A813V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(E810Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(T807S)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
HCN1
(T807A)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(S802C)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(S802P)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
(T799I)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
(V797G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 24
+2 more
GConflicting classifications of pathogenicity
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
HCN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GLikely benign
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