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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM6A
Microsatellite
(inframe_insertion +2 more)
not specified
+2 more
GBenign/Likely benign
KDM6A, LOC130068183
(G51*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
KDM6A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KDM6A
(T636M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
KDM6A
(P686S +5 more)
Single nucleotide variant
(missense variant +1 more)
KDM6A-related condition
+2 more
GConflicting classifications of pathogenicity
KDM6A
(T778K +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
KDM6A
Deletion
(intron variant)
Kabuki syndrome 2
+2 more
GBenign
KDM6A
Deletion
(intron variant)
not specified
+2 more
GBenign
KDM6A
Deletion
(intron variant)
not specified
+2 more
GBenign/Likely benign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
KDM6A
(H1112L +5 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 1
+3 more
GBenign
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
KDM6A
Single nucleotide variant
(synonymous variant +1 more)
KDM6A-related condition
+3 more
GBenign
KDM6A
Deletion
(intron variant)
not specified
+1 more
GBenign
KDM6A
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
KDM6A
(R1351Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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