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Links from MedGen

Items: 1 to 100 of 214

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SALL4
(A198V)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
(G557R +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(S502P)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
(R745H)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
(E694A)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
(K426R)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
(A574T +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(R573Q)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
(S564F +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(T259I)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(N453I)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
(C683W)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
(A809fs)
Duplication
(frameshift variant +1 more)
Duane-radial ray syndrome
GPathogenic
SALL4
(R491C +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(G545W)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
(A485V +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(A1051V +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
(G138S)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(S705C)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
(F665fs)
Deletion
(frameshift variant +1 more)
Duane-radial ray syndrome
GPathogenic
SALL4
(S753A)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GBenign
SALL4
(V545M +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GBenign/Likely benign
SALL4
(L335F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SALL4
(Q1020fs +1 more)
Deletion
(frameshift variant)
Duane-radial ray syndrome
GLikely pathogenic
SALL4
(M819fs)
Duplication
(frameshift variant +1 more)
Duane-radial ray syndrome
GPathogenic
SALL4
Deletion
Duane-radial ray syndrome
GLikely pathogenic
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SALL4
(P542fs)
Deletion
(frameshift variant +1 more)
Duane-radial ray syndrome
GPathogenic
SALL4
(S1021L +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
+1 more
GConflicting classifications of pathogenicity
SALL4
(E216K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SALL4
Single nucleotide variant
(intron variant)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
(R586C)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
(V181M)
Inversion
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
(R745C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SALL4
(A200V)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(G340S)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GLikely benign
SALL4
(D692N)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
(E444K)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
(A192E)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
+1 more
GUncertain significance
SALL4
(E158fs)
Microsatellite
(frameshift variant)
Duane-radial ray syndrome
GPathogenic
SALL4
Single nucleotide variant
(intron variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(P162L)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
(D199G)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(V176M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SALL4
Single nucleotide variant
(intron variant)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(intron variant)
Duane-radial ray syndrome
GBenign
SALL4
(R402C)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GBenign
SALL4
(S491L)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
(S491*)
Single nucleotide variant
(nonsense +1 more)
Duane-radial ray syndrome
GPathogenic
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
(A377E)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(N761fs)
Duplication
(frameshift variant +1 more)
Duane-radial ray syndrome
GPathogenic
SALL4
(H11Y)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
(S285P)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
Deletion
(inframe_deletion +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
(G41E)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
(K360T)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(L257R)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(A437P)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
(P834L +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
GUncertain significance
SALL4
(E689K)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
SALL4
(N751fs)
Deletion
(frameshift variant +1 more)
Duane-radial ray syndrome
GPathogenic
SALL4
Single nucleotide variant
(intron variant)
Duane-radial ray syndrome
+1 more
GConflicting classifications of pathogenicity
SALL4
(S346N)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
+1 more
GUncertain significance
SALL4
(Q238*)
Single nucleotide variant
(nonsense)
Duane-radial ray syndrome
GPathogenic
SALL4
(K357fs)
Deletion
(frameshift variant)
Duane-radial ray syndrome
GPathogenic
SALL4
(G556W +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
+1 more
GUncertain significance
SALL4
(T760I)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
Gnot provided
SALL4
(K597R)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
Gnot provided
SALL4
Duplication
(intron variant)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
GLikely benign
SALL4
(D804N)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
GUncertain significance
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