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Items: 31

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
(D739H +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+4 more
GConflicting classifications of pathogenicity
PLA2G6
(P485R +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+1 more
GUncertain significance
PLA2G6
(V469M +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+1 more
GUncertain significance
PLA2G6
(V690I +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLA2G6
(R380L +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(R380H +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+1 more
GUncertain significance
PLA2G6
(K349N +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLA2G6
(R318Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLA2G6
(R543H +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLA2G6
(G539S +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(R475Q +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+1 more
GConflicting classifications of pathogenicity
PLA2G6
(M470V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(R461W +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLA2G6
(D227V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PLA2G6
(P217L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PLA2G6
(R120C +2 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+1 more
GUncertain significance
PLA2G6
(C332S +2 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+2 more
GUncertain significance
PLA2G6
(S137F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLA2G6
(A268V +2 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+2 more
GUncertain significance
PLA2G6
(R237H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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
(S119R)
Single nucleotide variant
(missense variant +1 more)
Infantile neuroaxonal dystrophy
GUncertain significance
PLA2G6
(P118L)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(Y95C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PLA2G6
(A80T)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(S35N)
Single nucleotide variant
(missense variant +1 more)
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
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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