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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRAPPC9
(R1119Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TRAPPC9
(V1036M +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 13
GUncertain significance
TRAPPC9
(G1071S +5 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 13
+3 more
GUncertain significance
TRAPPC9
(R1148Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual Disability, Recessive
+5 more
GConflicting classifications of pathogenicity
TRAPPC9
(R1009Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 13
GUncertain significance
TRAPPC9
(R1046W +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
TRAPPC9
(L1023P +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 13
GUncertain significance
TRAPPC9
(E952* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TRAPPC9
(A923D +3 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability, autosomal recessive 13
GUncertain significance
TRAPPC9
(E885K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TRAPPC9
(P642L +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 13
GUncertain significance
TRAPPC9
(A633V +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 13
+2 more
GUncertain significance
TRAPPC9
(H494R +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 13
GUncertain significance
TRAPPC9
(A620T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TRAPPC9
(P437H +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 13
GUncertain significance
TRAPPC9
(A314T +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual Disability, Recessive
+3 more
GUncertain significance
TRAPPC9
(S186L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
TRAPPC9
(R56C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRAPPC9
(R51*)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability
+1 more
GPathogenic/Likely pathogenic
TRAPPC9
(R47Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
TRAPPC9
(I34S)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 13
GUncertain significance
TRAPPC9
Single nucleotide variant
(5 prime UTR variant)
Intellectual disability, autosomal recessive 13
GUncertain significance
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