U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from Orgtrack

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2D
(G5209V)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
GUncertain significance
KMT2D
(Q2693*)
Single nucleotide variant
(nonsense)
Kabuki syndrome 1
GPathogenic