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Links from MedGen

Items: 1 to 100 of 1156

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MBD5
(S1124R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(E1206D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(I1363V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(Q591R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(N1381D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(S1189N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(M1507I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(P626L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(K1564R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(N751S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(S175L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(M1021R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(R28C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(H515R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(M623V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(P1484S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(G1301D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(D1132G +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(D654G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(M1274T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(A643S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(S1324G +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(P1319S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(G1312V +1 more)
Indel
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(K1174E +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(A1011fs +1 more)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 1
GPathogenic
MBD5
(S263C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(S147L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(L910V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(P276A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(F1383L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(P390S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(T1431R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(H1568Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(S917T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(P308Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(Q998P +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(G79V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(R1463G +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(T1307S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(R1162S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(E65fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 1
GPathogenic
MBD5
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(F696C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(Q943E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(G794V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(G470R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(I1492M +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(R200fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 1
GPathogenic
MBD5
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(S578G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(N1402H +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(M975I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(M417I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(P1080R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(G1433S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(N1500I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(S530R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(T862del)
Microsatellite
(inframe_deletion)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(Q388R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(P337H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(L687W)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(T1338I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(N1411I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(L631P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(F1472L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(T432A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(Q1714* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(Q201K)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(T821I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(V1376I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
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