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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKDD1A, CILP
+97 more
Copy number gain
See cases
GPathogenic
RAB11A
(R4C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAB11A
(D6E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAB11A
(Y10S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAB11A
(K41R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAB11A
(T43A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAB11A
(T67I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAB11A
Single nucleotide variant
(intron variant)
not provided
GBenign
RAB11A
(H112D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAB11A
(D137V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAB11A
(E144Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
RAB11A
(I151T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RAB11A
(Q54*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RAB11A
(G86V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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