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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS4A
Single nucleotide variant
(splice acceptor variant)
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
GUncertain significance
VPS4A
(L411P)
Single nucleotide variant
(missense variant)
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
GUncertain significance
VPS4A
(T315M)
Single nucleotide variant
(missense variant)
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
GUncertain significance
VPS4A
(L202P)
Single nucleotide variant
(missense variant)
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
GUncertain significance
LOC126862382, VPS4A
(A28V)
Single nucleotide variant
(missense variant)
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
+1 more
GLikely pathogenic
VPS4A
(G203E)
Single nucleotide variant
(missense variant)
Syndromic congenital hemolytic and dyserythropoietic anemia
GPathogenic
VPS4A
(E206K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
VPS4A
(R284G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
VPS4A
(R284W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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