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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM1A
(A589T +3 more)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(A620T +3 more)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(D181H)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GUncertain significance
KDM1A
(P635fs +2 more)
Deletion
(frameshift variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(P71S)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(G788A +3 more)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(G831R +3 more)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(I356fs +1 more)
Duplication
(frameshift variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(A54T)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(T610M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KDM1A
(S93Y)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
+1 more
GUncertain significance
KDM1A
(L44P)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(P635S +2 more)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(G46S)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
+2 more
GConflicting classifications of pathogenicity
KDM1A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KDM1A
(K574E +2 more)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GUncertain significance
KDM1A
(D580G +2 more)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GPathogenic
KDM1A
(E403K +1 more)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GPathogenic
KDM1A
(Y785H +2 more)
Single nucleotide variant
(missense variant)
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
GPathogenic
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