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Links from MedGen

Items: 1 to 100 of 870

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP13A2
(L340P +1 more)
Single nucleotide variant
(missense variant)
Kufor-Rakeb syndrome
GUncertain significance
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(splice donor variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely pathogenic
ATP13A2
Microsatellite
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
(V845L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
(R1036C)
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
(R1075C)
Single nucleotide variant
(synonymous variant +1 more)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
(A805V +1 more)
Single nucleotide variant
(missense variant +1 more)
Kufor-Rakeb syndrome
+1 more
GUncertain significance
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Deletion
(splice donor variant)
Kufor-Rakeb syndrome
+1 more
GLikely pathogenic
ATP13A2
(P1045S)
Single nucleotide variant
(synonymous variant +1 more)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Duplication
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2, LOC129929540
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Duplication
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
(V73fs)
Deletion
(frameshift variant)
Kufor-Rakeb syndrome
+1 more
GPathogenic
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Deletion
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
(M421V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
(G15S)
Single nucleotide variant
(missense variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
Single nucleotide variant
(intron variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Duplication
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant +1 more)
Kufor-Rakeb syndrome
+1 more
GLikely pathogenic
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
(V35M)
Single nucleotide variant
(missense variant)
Kufor-Rakeb syndrome
+1 more
GUncertain significance
ATP13A2
(A641fs +1 more)
Deletion
(frameshift variant)
Kufor-Rakeb syndrome
+1 more
GPathogenic
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
(R1038G)
Single nucleotide variant
(synonymous variant +1 more)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ATP13A2
(A1086T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
(R1067G)
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
(L340fs +1 more)
Microsatellite
(frameshift variant)
Kufor-Rakeb syndrome
+2 more
GPathogenic
ATP13A2
Single nucleotide variant
(splice donor variant)
Kufor-Rakeb syndrome
GLikely pathogenic
ATP13A2
(Q803fs +2 more)
Deletion
(frameshift variant)
Kufor-Rakeb syndrome
GPathogenic
ATP13A2
(R167C +1 more)
Single nucleotide variant
(missense variant)
Kufor-Rakeb syndrome
GUncertain significance
ATP13A2
(M472fs +1 more)
Duplication
(frameshift variant)
Kufor-Rakeb syndrome
GLikely pathogenic
ATP13A2
(I922V +2 more)
Single nucleotide variant
(missense variant)
Kufor-Rakeb syndrome
GUncertain significance
ATP13A2
Duplication
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
Duplication
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
(W71*)
Single nucleotide variant
(nonsense)
Kufor-Rakeb syndrome
+1 more
GPathogenic
ATP13A2
(V302M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
(L602V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GLikely benign
ATP13A2
(R274G +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
(S195P +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
Deletion
(intron variant)
Kufor-Rakeb syndrome
+1 more
GBenign
ATP13A2
(G848D +2 more)
Single nucleotide variant
(missense variant)
Kufor-Rakeb syndrome
+1 more
GUncertain significance
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
(A1052E)
Single nucleotide variant
(synonymous variant +1 more)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
(V707L +1 more)
Single nucleotide variant
(missense variant)
Kufor-Rakeb syndrome
+1 more
GUncertain significance
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
(E235K +1 more)
Single nucleotide variant
(missense variant)
Kufor-Rakeb syndrome
+1 more
GUncertain significance
ATP13A2
(E86K)
Single nucleotide variant
(missense variant)
Kufor-Rakeb syndrome
+1 more
GUncertain significance
ATP13A2
Single nucleotide variant
(intron variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Kufor-Rakeb syndrome
+1 more
GLikely benign
ATP13A2
Single nucleotide variant
(synonymous variant)
Autosomal recessive spastic paraplegia type 78
+1 more
GUncertain significance
ATP13A2
(V73A)
Single nucleotide variant
(missense variant)
Kufor-Rakeb syndrome
+1 more
GUncertain significance
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