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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRRAP
(R204C)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GUncertain significance
LOC126860121, TRRAP
(E1660G +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R2042C +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
+1 more
GUncertain significance
TRRAP
(S2083F +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(V2692I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRRAP
(S2718G +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(L2904Q +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(R3230C +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
TRRAP
(E3514D +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GUncertain significance
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