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Items: 1 to 100 of 420

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
LOC129931442, SNX27
Insertion
(nonsense +1 more)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
(D5A)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(D5E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
(G6R)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
+1 more
GUncertain significance
LOC129931442, SNX27
(G6V)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
+2 more
GUncertain significance
LOC129931442, SNX27
(G6E)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LOC129931442, SNX27
(E7K)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(E7G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129931442, SNX27
(I9M)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(P11S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
(P14T)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(P14S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129931442, SNX27
(P14L)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
+2 more
GUncertain significance
LOC129931442, SNX27
(H15Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129931442, SNX27
(N17H)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(G18A)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(G19D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129931442, SNX27
Microsatellite
(inframe_insertion)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Microsatellite
(inframe_insertion)
Severe myoclonic epilepsy in infancy
GBenign
LOC129931442, SNX27
(G20V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
(G24R)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(G24R)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(G24W)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
(G25W)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(G25V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
Deletion
(inframe_deletion)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
(A31V)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
Deletion
(inframe_deletion)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(G35S)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(G37E)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(G40S)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
(V44L)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
(V44L)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
(V47I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
(G54S)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
(Q60P)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
LOC129931442, SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
(N71H)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
(N71D)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
(N71K)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
(E73K)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
(H80D)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
(H80L)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
(A83F)
Indel
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
(A89fs)
Duplication
(frameshift variant)
Severe myoclonic epilepsy in infancy
GPathogenic
SNX27
(G87R)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
(G87R)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
(G87W)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
(G87A)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
(G88A)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
(D91Y)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
(R92L)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
(G98R)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
(R100S)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Duplication
(intron variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
GLikely benign
SNX27
(H106P)
Single nucleotide variant
(missense variant)
Severe myoclonic epilepsy in infancy
GUncertain significance
SNX27
Single nucleotide variant
(synonymous variant)
Severe myoclonic epilepsy in infancy
GLikely benign
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