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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLA2G6
(R741Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(R318Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLA2G6
(G539S +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(R461W +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLA2G6
(R139H)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+4 more
GConflicting classifications of pathogenicity
PLA2G6
(R132H)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
PLA2G6
(A80T)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(S34L)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(D31N)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(R6C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
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