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Links from MedGen

Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLA2G6
Single nucleotide variant
(splice donor variant)
Neurodegeneration with brain iron accumulation 2B
GLikely pathogenic
PLA2G6
(H124Y)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration with brain iron accumulation 2B
GUncertain significance
PLA2G6
(Q86* +1 more)
Single nucleotide variant
(nonsense +1 more)
Neurodegeneration with brain iron accumulation 2B
GLikely pathogenic
PLA2G6
(P223L +1 more)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+4 more
GConflicting classifications of pathogenicity
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
Deletion
(nonsense)
Neurodegeneration with brain iron accumulation 2B
GPathogenic
PLA2G6
(P327L +4 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 2B
GUncertain significance
PLA2G6
(R513Q +4 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 2B
+3 more
GUncertain significance
PLA2G6
(G421S +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+3 more
GConflicting classifications of pathogenicity
PLA2G6
(V150fs +2 more)
Deletion
(frameshift variant)
Neurodegeneration with brain iron accumulation 2B
GPathogenic
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
(R419* +4 more)
Single nucleotide variant
(nonsense)
Neurodegeneration with brain iron accumulation 2B
+1 more
GPathogenic
PLA2G6
(A115T +2 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+3 more
GConflicting classifications of pathogenicity
PLA2G6
(L107fs)
Deletion
(frameshift variant +1 more)
Neurodegeneration with brain iron accumulation 2B
+2 more
GPathogenic/Likely pathogenic
PLA2G6
(A486T +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+2 more
GUncertain significance
PLA2G6
Single nucleotide variant
(splice donor variant)
Neurodegeneration with brain iron accumulation 2B
GLikely pathogenic
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
(T298I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
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
Deletion
(intron variant)
Neurodegeneration with brain iron accumulation 2B
GPathogenic
PLA2G6
(H109D)
Single nucleotide variant
(missense variant +1 more)
Infantile neuroaxonal dystrophy
+3 more
GConflicting classifications of pathogenicity
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
(K502N +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PLA2G6
(N659S +4 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 2B
GLikely pathogenic
PLA2G6
(R139H)
Single nucleotide variant
(missense variant +1 more)
Infantile neuroaxonal dystrophy
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(D31N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(S34L)
Single nucleotide variant
(missense variant +1 more)
Infantile neuroaxonal dystrophy
+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)
not provided
+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)
Autosomal recessive Parkinson disease 14
+4 more
GConflicting classifications of pathogenicity
PLA2G6
Duplication
(inframe_insertion)
not specified
+1 more
GConflicting classifications of pathogenicity
PLA2G6
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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)
Iron accumulation in brain
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(R538H +4 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 2B
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(L481Q +4 more)
Single nucleotide variant
(missense variant)
Iron accumulation in brain
+3 more
GPathogenic/Likely pathogenic
PLA2G6
(R37*)
Single nucleotide variant
(nonsense +1 more)
Iron accumulation in brain
+4 more
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
(V691del +4 more)
Deletion
(inframe_deletion)
not provided
+3 more
GPathogenic
PLA2G6
(K545T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PLA2G6
(Y790* +4 more)
Single nucleotide variant
(nonsense)
PLA2G6-related disorder
+11 more
GConflicting classifications of pathogenicity
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