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Links from MedGen

Items: 1 to 100 of 854

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KANSL1
Duplication
(inframe_insertion)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(R1011W +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(E1016K +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GBenign
KANSL1
(C599Y +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(A1000T +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(S256R +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(M684V +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GBenign
KANSL1
(P486L +1 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(splice donor variant +1 more)
Koolen-de Vries syndrome
GLikely pathogenic
KANSL1
Single nucleotide variant
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(S508G +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(R1037W +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(G523V +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(V580F +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(R1057C +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(L191V +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(S917P +9 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(P1024A +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(E1014* +11 more)
Single nucleotide variant
(nonsense)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(R748G +2 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(Q1012H +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(A493G +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(N360fs +2 more)
Deletion
(frameshift variant +1 more)
Koolen-de Vries syndrome
GLikely pathogenic
KANSL1
(L232fs +2 more)
Duplication
(frameshift variant)
Koolen-de Vries syndrome
GLikely pathogenic
KANSL1
(Q1013E +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(L341V +4 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(L332fs)
Duplication
(frameshift variant +1 more)
Koolen-de Vries syndrome
GLikely pathogenic
KANSL1
(T401K +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GLikely pathogenic
KANSL1
Deletion
(nonsense +1 more)
Koolen-de Vries syndrome
GPathogenic
KANSL1
(R443K +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(A169T +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(R1026G +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(H258Q +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(Q116K)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(S335G +4 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Duplication
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(M205fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
KANSL1
Single nucleotide variant
(splice donor variant)
Koolen-de Vries syndrome
+1 more
GPathogenic
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(G564A +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(P710T)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(S516T +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(H1041Q +11 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Deletion
(intron variant)
Koolen-de Vries syndrome
GBenign
KANSL1
(S784L +4 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(L494V +1 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(S480F +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(D1018V +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(D1021G +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(L751V +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(V555L +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(R1022H +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(Q473E +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(F431V +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(D251G +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(D831N +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(V577A +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(S479C +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(M711fs)
Deletion
(frameshift variant)
Koolen-de Vries syndrome
GPathogenic
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(R520Q +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(M677V +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(P838R +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(P538L +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(P1009A +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
+1 more
GUncertain significance
KANSL1
(M725L +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GBenign
KANSL1
(A1032G +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(T361A +4 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
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