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Links from MedGen

Items: 1 to 100 of 887

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT6B
(I617V)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(A1498S +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(A1121T +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(P415S +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(T1170A +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GBenign
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(P1318S +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(E1208K +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(T1273I +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
Microsatellite
(inframe_insertion)
Genitopatellar syndrome
GUncertain significance
KAT6B
(E1180Q +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
Insertion
(inframe_insertion)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(P980L +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(A1269V +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GBenign
KAT6B
Deletion
(inframe_deletion)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(E1091A +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(C1244R +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(S515T)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(S1610C +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(R634T)
Single nucleotide variant
(intron variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(S54G)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(T1232K +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(M273T +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(P1681R +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(Y569S +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(P1047S +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(K512E +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
Deletion
(inframe_deletion)
Genitopatellar syndrome
GLikely benign
KAT6B
(A159G)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(E1093D +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(Y116C +4 more)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GBenign
KAT6B
(P121S)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(P517S)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(N348S +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(M1335I +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(T586I +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(T293N +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(K412R)
Single nucleotide variant
(intron variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(I368T +4 more)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(S492F)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(P170R)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(E346K +3 more)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(T666A +3 more)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(C526S)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(P1270R +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(K120R +4 more)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(T405P)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(P1342T +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(E1019G +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(P404S)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(V407I +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(I411V +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(C654R +3 more)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(K636E)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(splice acceptor variant)
Genitopatellar syndrome
GLikely pathogenic
KAT6B
(R280S)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(S273G)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(R1018G +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(Y176C)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(T549S +4 more)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(Q1171K +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(K638N)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(N1055D +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(S1215N +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(C237V +1 more)
Indel
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(V1119L +7 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(S98T)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GPathogenic
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(intron variant)
Genitopatellar syndrome
GLikely benign
KAT6B
(K128R +4 more)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(G1217del +7 more)
Deletion
(inframe_deletion)
Genitopatellar syndrome
GUncertain significance
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