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Links from MedGen

Items: 1 to 100 of 668

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM6A
Duplication
Kabuki syndrome 2
GUncertain significance
KDM6A
Duplication
Kabuki syndrome 2
GUncertain significance
KDM6A
Deletion
Kabuki syndrome 2
GPathogenic
KDM6A
Deletion
Kabuki syndrome 2
GPathogenic
KDM6A
(G411fs +7 more)
Deletion
(frameshift variant +1 more)
Kabuki syndrome 2
GPathogenic
KDM6A
Deletion
(intron variant)
Kabuki syndrome 2
GLikely pathogenic
KDM6A
(M1050V +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(E666K +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(Y120C)
Single nucleotide variant
(missense variant +2 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(S296N +1 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(L1258M +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(S507T +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(K503R +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Deletion
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(T1161I +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
(Q456H +4 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(F18L)
Single nucleotide variant
(missense variant +2 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Microsatellite
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A, LOC130068183
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(G503S +4 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(R526Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
(L232F)
Single nucleotide variant
(missense variant +2 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(N776S +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(V1079I +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GBenign
KDM6A
(R1030K +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Duplication
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
Duplication
(inframe_insertion +2 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
(V853M +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A, LOC130068183
Single nucleotide variant
(synonymous variant +2 more)
KDM6A-related disorder
+1 more
GBenign/Likely benign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(R436G +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(V479A +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(N711K +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GBenign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(S16G +1 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
+2 more
GBenign/Likely benign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
Deletion
(intron variant)
Kabuki syndrome 2
GBenign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
(T730R +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +2 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GBenign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
(S869P +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(T136N +1 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(N495S +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(A462T +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(G66S)
Single nucleotide variant
(missense variant +2 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
(S867G +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(S1041A +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(L991P +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(N310D +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A, LOC130068183
(G51V)
Single nucleotide variant
(missense variant +2 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(I1022M +13 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(Y183C)
Single nucleotide variant
(missense variant +2 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(C384F +1 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
(Q1063H +13 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Duplication
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(D855G +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
(S821P +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Deletion
(intron variant)
Kabuki syndrome 2
GLikely benign
KDM6A
(R1061del +7 more)
Microsatellite
(inframe_deletion +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(intron variant)
Kabuki syndrome 2
GPathogenic
KDM6A
(S330G +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
KDM6A
(S617L +7 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
GBenign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
Kabuki syndrome 2
GLikely benign
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