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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TASP1
Single nucleotide variant
(intron variant)
Suleiman-El-Hattab syndrome
GUncertain significance
TASP1
(A170T +1 more)
Single nucleotide variant
(missense variant +2 more)
Suleiman-El-Hattab syndrome
GUncertain significance
TASP1
Single nucleotide variant
(intron variant +1 more)
Suleiman-El-Hattab syndrome
GLikely pathogenic
TASP1
Single nucleotide variant
(intron variant +1 more)
Suleiman-El-Hattab syndrome
GLikely pathogenic
AFF2, FRAXE
+1 more
Deletion
Suleiman-El-Hattab syndrome
GPathogenic
TASP1
(K195R +2 more)
Single nucleotide variant
(missense variant +1 more)
Suleiman-El-Hattab syndrome
GUncertain significance
TASP1
(M120I +1 more)
Single nucleotide variant
(missense variant +2 more)
Suleiman-El-Hattab syndrome
GUncertain significance
TASP1
(T234M +2 more)
Single nucleotide variant
(missense variant +1 more)
Suleiman-El-Hattab syndrome
GLikely pathogenic
TASP1, LOC125384585
Deletion
Developmental delay
+2 more
GLikely pathogenic
TASP1
(R67*)
Single nucleotide variant
(nonsense +2 more)
Global developmental delay
GPathogenic
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