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Links from MedGen

Items: 1 to 100 of 933

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KANSL1
(S405G)
Single nucleotide variant
(missense variant +1 more)
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
(D428N +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(N830S +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Microsatellite
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(K178R +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(A507E +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
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(P516L +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(R708P +2 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(P353S +2 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(R573Q +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
+1 more
GConflicting classifications of pathogenicity
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)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(C117R +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(D87N +1 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(A541T +2 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
(R1047W +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(T361I +4 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GBenign
KANSL1
(L580F +11 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
(P478S +9 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(R590H +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
(synonymous 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
(R121S +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(E489K +1 more)
Single nucleotide variant
(missense variant +1 more)
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
GUncertain significance
KANSL1
Single nucleotide variant
(intron 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
(E613K +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(K668* +2 more)
Single nucleotide variant
(nonsense)
Koolen-de Vries syndrome
GPathogenic
KANSL1
(Q807H +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
KANSL1
(G164S +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(A145G +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GBenign
KANSL1
(V63E +1 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GBenign
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
(P223T +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
(S502Y +9 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
Indel
(inframe_insertion)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(intron variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(R286G +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(T1039fs +11 more)
Duplication
(frameshift variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(S467fs +9 more)
Deletion
(frameshift variant)
Koolen-de Vries syndrome
GPathogenic
KANSL1
(A1036P +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
(I105V +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
(H572R +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(R789Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(P747fs +2 more)
Deletion
(frameshift variant +1 more)
Koolen-de Vries syndrome
GPathogenic
KANSL1
Single nucleotide variant
(synonymous variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(E763D +2 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(D163H +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(P231A +2 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(L1009F +11 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
(R728G +2 more)
Single nucleotide variant
(missense variant +1 more)
Koolen-de Vries syndrome
GUncertain significance
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
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