U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 1197

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MBD5
(M116fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 1
GLikely pathogenic
ZMYND11
(R160K +14 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(K682R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(N973S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(R252G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(T535A)
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
(Y232C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(Q672R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(N372S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(N604S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(P365A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(T873A)
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
(S503T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(Q1226R +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
(D1431E +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(S1696G +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
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
(T440A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(L918F)
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
(N745S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(G1078C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(P457S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 1
GUncertain significance
MBD5
(N1381S +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
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 1
GLikely benign
MBD5
(P408L)
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
(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
+1 more
GConflicting classifications of pathogenicity
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
Format
Items per page
Sort by
Choose Destination