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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLA2G6
(P806R +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+4 more
GConflicting classifications of pathogenicity
PLA2G6
(S394L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLA2G6
(G539S +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(M470V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PLA2G6
Single nucleotide variant
(synonymous variant)
PLA2G6-associated neurodegeneration
+3 more
GConflicting classifications of pathogenicity
PLA2G6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
PLA2G6
(A147T)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+5 more
GUncertain significance
PLA2G6
(R115C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
PLA2G6
(H109D)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
PLA2G6
Single nucleotide variant
(intron variant)
Infantile neuroaxonal dystrophy
+1 more
GUncertain significance
PLA2G6
(S34L)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+5 more
GConflicting classifications of pathogenicity
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