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Links from MedGen

Items: 1 to 100 of 701

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBE3A
Duplication
Angelman syndrome
GUncertain significance
UBE3A
Deletion
Angelman syndrome
GPathogenic
SNHG14, UBE3A
(Y277fs +6 more)
Duplication
(frameshift variant +2 more)
Angelman syndrome
GLikely pathogenic
SNHG14, UBE3A
(G206E +5 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(S207P +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(H660R +6 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(T844M +8 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(P194S +5 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(R232S +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Deletion
(intron variant)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +1 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(F134S +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(V383A +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(K300R +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(N332I +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Single nucleotide variant
(intron variant)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(V365A +8 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(E303* +3 more)
Single nucleotide variant
(nonsense +2 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
(F404S +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(A80T +3 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Duplication
(nonsense +1 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
(C418fs +3 more)
Duplication
(frameshift variant +2 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(R190K +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(intron variant)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(G158R +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(S107F +3 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(intron variant)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(K641fs +5 more)
Duplication
(frameshift variant +1 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
Deletion
(intron variant)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(R275G +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(K417fs +8 more)
Duplication
(frameshift variant +1 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
(L458V +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(P398T +8 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(N187D +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(T399A +8 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(D311E +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(N222S +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +1 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(N235S +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(K465R +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(intron variant)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +1 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(A316S +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(E392D +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(E794Q +8 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(I211M +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(V385G +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +1 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(A176V +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(F424V +8 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(R275Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(L434R +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(M354I +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(S212P +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +1 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Deletion
(intron variant)
Angelman syndrome
GBenign
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(M273L +5 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(A174S +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(intron variant)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(V306G +6 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(intron variant)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Duplication
(intron variant)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
(E208fs +3 more)
Deletion
(frameshift variant +2 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
(I421T +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(I387V +8 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
Single nucleotide variant
(synonymous variant +2 more)
Angelman syndrome
GLikely benign
SNHG14, UBE3A
Indel
(nonsense +1 more)
Angelman syndrome
GLikely pathogenic
GABRA5, PWRN4
+143 more
Deletion
Angelman syndrome
GPathogenic
SNHG14, UBE3A
(N43fs +3 more)
Duplication
(frameshift variant +1 more)
Angelman syndrome
GLikely pathogenic
SNHG14, UBE3A
(T333fs +8 more)
Deletion
(frameshift variant +1 more)
Angelman syndrome
GLikely pathogenic
SNHG14, UBE3A
(E101fs +5 more)
Deletion
(frameshift variant +1 more)
Angelman syndrome
GPathogenic
ATP10A, ATP10A-DT
+163 more
Copy number loss
Angelman syndrome
GPathogenic
SNHG14, UBE3A
Copy number loss
Angelman syndrome
GPathogenic
SNHG14, UBE3A
(G180D +5 more)
Single nucleotide variant
(missense variant +1 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(Y308fs +6 more)
Duplication
(frameshift variant +2 more)
Angelman syndrome
GPathogenic
SNHG14, UBE3A
(L201* +3 more)
Single nucleotide variant
(nonsense +2 more)
Angelman syndrome
GPathogenic
UBE3A, SNHG14
(G170fs +5 more)
Deletion
(frameshift variant +1 more)
Angelman syndrome
GLikely pathogenic
SNHG14, UBE3A
(R151S +3 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
SNHG14, UBE3A
(R323W +6 more)
Single nucleotide variant
(missense variant +2 more)
Angelman syndrome
GUncertain significance
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