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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNHG14, UBE3A
Microsatellite
(no sequence alteration +1 more)
not provided
GConflicting classifications of pathogenicity
SNHG14, UBE3A
Single nucleotide variant
(3 prime UTR variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +1 more)
UBE3A-related condition
+4 more
GBenign/Likely benign
SNHG14, UBE3A
(G850D +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SNHG14, UBE3A
Deletion
(inframe_deletion +1 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
(L796fs +8 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
SNHG14, UBE3A
(N692S +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SNHG14, UBE3A
(N692H +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(intron variant)
Angelman syndrome
GBenign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(F625L +5 more)
Single nucleotide variant
(missense variant +1 more)
UBE3A-related condition
+2 more
GUncertain significance
SNHG14, UBE3A
(Q171fs +5 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +1 more)
Angelman syndrome
GBenign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +1 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(R536fs +3 more)
Indel
(frameshift variant +2 more)
not provided
GPathogenic
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GBenign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GBenign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GBenign
SNHG14, UBE3A
(E393* +3 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
SNHG14, UBE3A
Single nucleotide variant
(intron variant +2 more)
Inborn genetic diseases
+2 more
GBenign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(A297del +3 more)
Deletion
(inframe_deletion +2 more)
not provided
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(A178T +3 more)
Single nucleotide variant
(missense variant +2 more)
UBE3A-related condition
+3 more
GBenign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(E186fs +3 more)
Insertion
(frameshift variant +2 more)
not provided
GPathogenic
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GBenign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GBenign
SNHG14, UBE3A
(T103A +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SNHG14, UBE3A
Deletion
(intron variant)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(M1T +2 more)
Single nucleotide variant
(missense variant +4 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
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