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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EHMT1
(E24K)
Single nucleotide variant
(missense variant +1 more)
Kleefstra syndrome 1
+3 more
GConflicting classifications of pathogenicity
EHMT1
(A46E +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(D83G +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(A104V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
EHMT1
(H77Q +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GConflicting classifications of pathogenicity
EHMT1
(T110I +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(L155V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
EHMT1
(N238S +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
+1 more
GConflicting classifications of pathogenicity
EHMT1
(P252H +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
+1 more
GConflicting classifications of pathogenicity
EHMT1
(H290Y +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(E380D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
EHMT1
(R413K +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(K431R +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(G478E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
EHMT1
(A593S +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
+1 more
GLikely benign
EHMT1
(S680L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EHMT1
(L673F +2 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
+1 more
GConflicting classifications of pathogenicity
EHMT1
Single nucleotide variant
(synonymous variant)
Kleefstra syndrome 1
GLikely benign
EHMT1
(C771S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EHMT1
(V935M +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GConflicting classifications of pathogenicity
EHMT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EHMT1
(T1126A +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(M1129V +1 more)
Single nucleotide variant
(missense variant)
Kleefstra syndrome 1
GUncertain significance
EHMT1
(E1283A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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