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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2D
(R5030C)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
+2 more
GConflicting classifications of pathogenicity
KMT2D
(P4331H)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
GUncertain significance
KMT2D
(R4282*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
KMT2D
(P3665S)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
GUncertain significance
KMT2D
(Q3453E)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
GUncertain significance
KMT2D
(L1953V)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
GUncertain significance
KMT2D
Single nucleotide variant
(splice acceptor variant)
Kabuki syndrome 1
GPathogenic
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