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Links from MedGen

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SALL4
(G556W +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
+1 more
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
+1 more
GConflicting classifications of pathogenicity
SALL4
(G993R +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
+1 more
GUncertain significance
SALL4
(T499M)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
+1 more
GUncertain significance
SALL4
(C220Y)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SALL4
(S395N)
Single nucleotide variant
(missense variant +1 more)
Duane-radial ray syndrome
+2 more
GUncertain significance
SALL4
(D508N +1 more)
Single nucleotide variant
(missense variant)
Oculootoradial syndrome
+1 more
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
+1 more
GBenign/Likely benign
SALL4
(K808E)
Single nucleotide variant
(missense variant +1 more)
Oculootoradial syndrome
GUncertain significance
SALL4
(V1027G +1 more)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
+1 more
GUncertain significance
SALL4
(R68W)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
+2 more
GConflicting classifications of pathogenicity
SALL4
Single nucleotide variant
(synonymous variant)
Oculootoradial syndrome
+2 more
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
+2 more
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
Oculootoradial syndrome
+2 more
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Oculootoradial syndrome
+1 more
GBenign/Likely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Oculootoradial syndrome
+1 more
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
+2 more
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
Oculootoradial syndrome
+2 more
GBenign/Likely benign
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
+1 more
GLikely benign
SALL4
Deletion
(splice acceptor variant)
Oculootoradial syndrome
+1 more
GLikely pathogenic
SALL4
(R816H)
Single nucleotide variant
(missense variant +1 more)
Oculootoradial syndrome
+2 more
GUncertain significance
SALL4
(R68Q)
Single nucleotide variant
(missense variant)
Duane-radial ray syndrome
+1 more
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
+2 more
GBenign/Likely benign
SALL4
(P317L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
Oculootoradial syndrome
+2 more
GBenign/Likely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
+2 more
GBenign/Likely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Oculootoradial syndrome
+2 more
GBenign/Likely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Oculootoradial syndrome
+2 more
GBenign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
+2 more
GLikely benign
SALL4
Single nucleotide variant
(synonymous variant)
Duane-radial ray syndrome
+2 more
GUncertain significance
SALL4
(T256A)
Single nucleotide variant
(missense variant)
Oculootoradial syndrome
+3 more
GUncertain significance
SALL4
(T679S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
SALL4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
SALL4
(L507R)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign
SALL4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
+2 more
GBenign/Likely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
Duane-radial ray syndrome
+2 more
GBenign/Likely benign
SALL4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
SALL4
(Q432fs +1 more)
Deletion
(frameshift variant)
Oculootoradial syndrome
GPathogenic
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