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Links from MedGen

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLA2G6
(R318Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLA2G6
(A520S +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive Parkinson disease 14
+2 more
GUncertain significance
PLA2G6
(R59H +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive Parkinson disease 14
+4 more
GUncertain significance
PLA2G6
(E330G +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+2 more
GUncertain significance
PLA2G6
(V385I +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PLA2G6
(R513Q +4 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 2B
+3 more
GUncertain significance
PLA2G6
(G266A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PLA2G6
(R161C)
Single nucleotide variant
(missense variant +1 more)
Infantile neuroaxonal dystrophy
+3 more
GUncertain significance
PLA2G6
(R132H)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive Parkinson disease 14
+4 more
GUncertain significance
PLA2G6
(R39Q)
Single nucleotide variant
(missense variant +1 more)
Infantile neuroaxonal dystrophy
+3 more
GUncertain significance
PLA2G6
(L364F +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive Parkinson disease 14
+2 more
GUncertain significance
PLA2G6
(R515Q +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+4 more
GUncertain significance
PLA2G6
(T141M +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PLA2G6
(L128P +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PLA2G6
(T298I +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(T10N)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive Parkinson disease 14
+1 more
GUncertain significance
PLA2G6
(R75C +2 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+3 more
GUncertain significance
PLA2G6
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive Parkinson disease 14
+3 more
GLikely benign
PLA2G6
(R6C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
PLA2G6
(R461W +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+3 more
GUncertain significance
PLA2G6
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(R139H)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-related disorder
+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
(S34L)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(A147T)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
PLA2G6
(L511V +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+4 more
GUncertain significance
PLA2G6
Single nucleotide variant
(synonymous variant)
Neurodegeneration with brain iron accumulation 2B
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(R741W +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+5 more
GPathogenic/Likely pathogenic
PLA2G6
(A300T +2 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+4 more
GConflicting classifications of pathogenicity
PLA2G6
(P806R +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+4 more
GConflicting classifications of pathogenicity
PLA2G6
(R23Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
PLA2G6
(R745W +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+3 more
GPathogenic/Likely pathogenic
PLA2G6
(R600Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic/Likely pathogenic
PLA2G6
(L334fs +4 more)
Deletion
(frameshift variant)
Iron accumulation in brain
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(G539S +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(D331Y +2 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+2 more
GPathogenic
PLA2G6
(F72L)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive Parkinson disease 14
GPathogenic
PLA2G6
(Q452* +4 more)
Single nucleotide variant
(nonsense)
Autosomal recessive Parkinson disease 14
GPathogenic
PLA2G6
(R635Q +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+4 more
GConflicting classifications of pathogenicity
PLA2G6
(R747W +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(R741Q +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(A80T)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+4 more
GPathogenic/Likely pathogenic
PLA2G6
Deletion
(nonsense)
Autosomal recessive Parkinson disease 14
+6 more
GPathogenic/Likely pathogenic
PLA2G6
(K545T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PLA2G6
(Y790* +4 more)
Single nucleotide variant
(nonsense)
Autism
+11 more
GConflicting classifications of pathogenicity
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