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Links from MedGen

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS2, POLR1C
(R101H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLA2G6
(N214S +1 more)
Single nucleotide variant
(missense variant +1 more)
Iron accumulation in brain
GUncertain significance
PLA2G6
(F490S +4 more)
Single nucleotide variant
(missense variant)
Iron accumulation in brain
GUncertain significance
Infantile neuroaxonal dystrophy
GLikely pathogenic
PLA2G6
(C332R +2 more)
Single nucleotide variant
(missense variant)
Iron accumulation in brain
GLikely pathogenic
PLA2G6
(R329H +2 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+3 more
GConflicting classifications of pathogenicity
PLA2G6
(M274R +2 more)
Single nucleotide variant
(missense variant)
Iron accumulation in brain
GPathogenic
PLA2G6
Single nucleotide variant
(synonymous variant +1 more)
Infantile neuroaxonal dystrophy
+1 more
GConflicting classifications of pathogenicity
PLA2G6
(N74fs +1 more)
Deletion
(frameshift variant +1 more)
PLA2G6-associated neurodegeneration
+3 more
GPathogenic/Likely pathogenic
PLA2G6
Deletion
(inframe_deletion +1 more)
PLA2G6-associated neurodegeneration
+3 more
GConflicting classifications of pathogenicity
PLA2G6
(R23Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
PLA2G6
(H225Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
PLA2G6
(G220R +1 more)
Single nucleotide variant
(missense variant +1 more)
Iron accumulation in brain
GUncertain significance
PLA2G6
(Q173*)
Single nucleotide variant
(nonsense +2 more)
Iron accumulation in brain
GPathogenic
PLA2G6
(Q2K)
Single nucleotide variant
(missense variant +1 more)
Iron accumulation in brain
GLikely pathogenic
PLA2G6
(G2A)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(C160R)
Single nucleotide variant
(missense variant +1 more)
Iron accumulation in brain
GLikely pathogenic
PLA2G6
(L129P)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(L799H +4 more)
Single nucleotide variant
(missense variant)
Iron accumulation in brain
GLikely pathogenic
PLA2G6
(T544fs +4 more)
Microsatellite
(frameshift variant)
Iron accumulation in brain
+1 more
GPathogenic
PLA2G6
(W749S +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(R745W +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+3 more
GPathogenic/Likely pathogenic
PLA2G6
(D739H +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+4 more
GConflicting classifications of pathogenicity
PLA2G6
Single nucleotide variant
(intron variant)
PLA2G6-associated neurodegeneration
+2 more
GUncertain significance
PLA2G6
(R710C +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(Q700* +4 more)
Single nucleotide variant
(nonsense)
PLA2G6-associated neurodegeneration
+3 more
GConflicting classifications of pathogenicity
PLA2G6
(V691I +4 more)
Single nucleotide variant
(missense variant)
Iron accumulation in brain
GUncertain significance
PLA2G6
(V690I +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+3 more
GUncertain significance
PLA2G6
(I689S +4 more)
Single nucleotide variant
(missense variant)
Iron accumulation in brain
GUncertain significance
PLA2G6
(R677L +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+2 more
GUncertain significance
PLA2G6
(P660S +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(N658T +4 more)
Single nucleotide variant
(missense variant)
Iron accumulation in brain
GLikely pathogenic
PLA2G6
(R635* +4 more)
Single nucleotide variant
(nonsense)
PLA2G6-associated neurodegeneration
+3 more
GPathogenic
PLA2G6
(R600Q +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+9 more
GPathogenic/Likely pathogenic
PLA2G6
(T585I +4 more)
Single nucleotide variant
(missense variant)
Iron accumulation in brain
GPathogenic
PLA2G6
Single nucleotide variant
(synonymous variant)
PLA2G6-associated neurodegeneration
+3 more
GConflicting classifications of pathogenicity
PLA2G6
(E567K +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(L334fs +4 more)
Deletion
(frameshift variant)
PLA2G6-associated neurodegeneration
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(K545R +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+3 more
GPathogenic/Likely pathogenic
PLA2G6
(G539S +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+5 more
GConflicting classifications of pathogenicity
PLA2G6
(R538H +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(R538C +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+2 more
GConflicting classifications of pathogenicity
PLA2G6
Single nucleotide variant
(intron variant)
Infantile neuroaxonal dystrophy
+1 more
GConflicting classifications of pathogenicity
PLA2G6
Single nucleotide variant
(intron variant)
Infantile neuroaxonal dystrophy
+1 more
GConflicting classifications of pathogenicity
PLA2G6
(A525T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLA2G6
(S450fs +4 more)
Deletion
(frameshift variant)
Iron accumulation in brain
GPathogenic
PLA2G6
(E501Q +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(L497F +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+1 more
GConflicting classifications of pathogenicity
PLA2G6
(L481Q +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+3 more
GPathogenic/Likely pathogenic
PLA2G6
(L273fs +4 more)
Deletion
(frameshift variant)
PLA2G6-associated neurodegeneration
+3 more
GPathogenic
PLA2G6
Single nucleotide variant
(intron variant)
Infantile neuroaxonal dystrophy
+1 more
GConflicting classifications of pathogenicity
PLA2G6
(G373R +2 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+2 more
GPathogenic/Likely pathogenic
PLA2G6
(P353L +2 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(R37*)
Single nucleotide variant
(nonsense +1 more)
PLA2G6-associated neurodegeneration
+4 more
GPathogenic
PLA2G6
Deletion
(nonsense)
PLA2G6-associated neurodegeneration
+6 more
GPathogenic/Likely pathogenic
PLA2G6
(V691del +4 more)
Deletion
(inframe_deletion)
not provided
+3 more
GPathogenic
PLA2G6
(Y790* +4 more)
Single nucleotide variant
(nonsense)
PLA2G6-related condition
+11 more
GConflicting classifications of pathogenicity
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