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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIFM1, RAB33A
(K384T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
AIFM1, RAB33A
(V372I +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GUncertain significance
AIFM1, RAB33A
(P165L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
RAB33A, AIFM1
(Q49H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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