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Items: 1 to 100 of 2268

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002527, LOC130002528
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003109, LOC130003110
+1210 more
Copy number gain
See cases
GPathogenic
LOC130002885, LOC130002886
+789 more
Copy number gain
See cases
GPathogenic
PAEP, PIERCE1
+536 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+656 more
Copy number gain
See cases
GPathogenic
LOC110121282, LOC111365185
+530 more
Copy number gain
See cases
GPathogenic
BRD3, BRD3OS
+510 more
Copy number gain
See cases
GPathogenic
ABCA2, ADAMTSL2
+439 more
Copy number gain
See cases
GPathogenic
LOC130002964, LOC130002965
+417 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+405 more
Copy number gain
See cases
GPathogenic
LOC130003068, LOC130003069
+392 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+371 more
Copy number loss
See cases
GPathogenic
LCN15, LCN6
+265 more
Copy number loss
See cases
GPathogenic
CAMSAP1, CARD9
+86 more
Copy number gain
See cases
GUncertain significance
ABCA2, AGPAT2
+311 more
Copy number loss
See cases
GPathogenic
KCNT1, LCN9
+3 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
KCNT1, SOHLH1
Single nucleotide variant
(genic upstream transcript variant)
not provided
GLikely benign
KCNT1, LOC130002976
+1 more
Insertion
(genic upstream transcript variant)
not provided
GBenign
KCNT1, LOC130002976
Single nucleotide variant
not provided
GBenign
KCNT1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
KCNT1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
KCNT1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
KCNT1
Duplication
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
KCNT1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign
KCNT1
(P2A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(P2S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(L3F)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(P4S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(P4R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(D5E)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(G6R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(G6R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+2 more
GUncertain significance
KCNT1
(A7V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(A7fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 14
GLikely benign
KCNT1
(R8G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(T9N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(T9I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(P10A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(V13fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
KCNT1
(G11R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(G11A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNT1
(G11E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNT1
(G12S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(V13A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(C14S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+2 more
GConflicting classifications of pathogenicity
KCNT1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNT1
(R15Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(E16K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(E16Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(E16V)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(A17V)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(R18C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(R18H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(R18L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(T26fs)
Duplication
(frameshift variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(G19R)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(G19S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(G21fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(G21fs)
Deletion
(frameshift variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(G20R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(G20A)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
KCNT1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
KCNT1
(G21V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(G21D)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(Y22C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(T23P)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(N24H)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+2 more
GLikely benign
KCNT1
(R25W)
Single nucleotide variant
(missense variant)
KCNT1-related condition
+2 more
GConflicting classifications of pathogenicity
KCNT1
(R25P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GBenign
KCNT1
(T26I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+2 more
GLikely benign
KCNT1
(F27V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNT1
(F27L)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(E28del)
Deletion
(inframe_deletion)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Indel
(inframe_indel)
not provided
GUncertain significance
KCNT1
(F29L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
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