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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EHMT1
(R260* +2 more)
Single nucleotide variant
(nonsense)
Kleefstra syndrome 1
GPathogenic
EHMT1
(P442fs +2 more)
Deletion
(frameshift variant)
Kleefstra syndrome 1
GPathogenic
EHMT1
(D505fs +2 more)
Microsatellite
(frameshift variant)
Kleefstra syndrome 1
Gnot provided
EHMT1
(Q604* +2 more)
Single nucleotide variant
(nonsense)
Kleefstra syndrome 1
Gnot provided
EHMT1
(R620* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
EHMT1
(P677fs +2 more)
Duplication
(frameshift variant)
Kleefstra syndrome 1
Gnot provided
EHMT1
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
GPathogenic
EHMT1
(V948fs +1 more)
Microsatellite
(frameshift variant)
Kleefstra syndrome 1
GPathogenic
EHMT1
Single nucleotide variant
(splice acceptor variant)
Kleefstra syndrome 1
Gnot provided
EHMT1
(S960fs +1 more)
Microsatellite
(frameshift variant)
Kleefstra syndrome 1
+1 more
GPathogenic
EHMT1
Single nucleotide variant
(splice donor variant)
Kleefstra syndrome 1
Gnot provided
EHMT1
Deletion
(splice acceptor variant)
Kleefstra syndrome 1
Gnot provided
EHMT1
(C1073Y +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GPathogenic
EHMT1
(Q1077* +1 more)
Single nucleotide variant
(nonsense)
Kleefstra syndrome 1
GPathogenic
EHMT1
(R1168* +1 more)
Single nucleotide variant
(nonsense)
Kleefstra syndrome 1
GLikely pathogenic
EHMT1
(R1197W +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GLikely pathogenic
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