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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC128772343, SOX6
(L290V)
Single nucleotide variant
(missense variant)
Tolchin-Le Caignec syndrome
GUncertain significance
SOX6
(V701M +3 more)
Single nucleotide variant
(missense variant)
Tolchin-Le Caignec syndrome
GUncertain significance
SOX6
(I46fs)
Deletion
(frameshift variant)
Tolchin-Le Caignec syndrome
GUncertain significance
SOX6
(D377N +1 more)
Single nucleotide variant
(missense variant)
Tolchin-Le Caignec syndrome
GUncertain significance
SOX6
(E17G)
Single nucleotide variant
(missense variant)
Tolchin-Le Caignec syndrome
GUncertain significance
SOX6
(R635fs +3 more)
Deletion
(frameshift variant)
Tolchin-Le Caignec syndrome
GPathogenic
SOX6
Deletion
(intron variant)
Tolchin-Le Caignec syndrome
GUncertain significance
SOX6
(D23Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SOX6
(F346S)
Single nucleotide variant
(missense variant +1 more)
Tolchin-Le Caignec syndrome
GUncertain significance
SOX6
(Q327* +1 more)
Single nucleotide variant
(nonsense)
Tolchin-Le Caignec syndrome
GLikely pathogenic
SOX6
(G179S)
Single nucleotide variant
(missense variant)
Tolchin-Le Caignec syndrome
GLikely pathogenic
SOX6
(E54K)
Single nucleotide variant
(missense variant)
Tolchin-Le Caignec syndrome
GUncertain significance
SOX6
(M153T)
Single nucleotide variant
(missense variant)
Tolchin-Le Caignec syndrome
GUncertain significance
SOX6
(R466* +2 more)
Single nucleotide variant
(nonsense)
Tolchin-Le Caignec syndrome
GLikely pathogenic
SOX6
(Q324*)
Single nucleotide variant
(nonsense)
Tolchin-Le Caignec syndrome
GPathogenic
SOX6
(R93*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SOX6
(R652* +3 more)
Single nucleotide variant
(nonsense)
Tolchin-Le Caignec syndrome
+1 more
GPathogenic
SOX6
(W618R +2 more)
Single nucleotide variant
(missense variant)
Tolchin-Le Caignec syndrome
GPathogenic
SOX6
(M584T +2 more)
Single nucleotide variant
(missense variant)
Tolchin-Le Caignec syndrome
GPathogenic
SOX6
Single nucleotide variant
(nonsense)
Tolchin-Le Caignec syndrome
GPathogenic
LOC108281125, LOC110120926
+2 more
Deletion
Tolchin-Le Caignec syndrome
GPathogenic
SOX6
(Q240*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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