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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PANK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign/Likely benign
PANK2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PANK2
(V11I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PANK2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PANK2
(R44L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LOC130065345, PANK2
(R94G)
Single nucleotide variant
(missense variant +1 more)
Pigmentary pallidal degeneration
+2 more
GConflicting classifications of pathogenicity
LOC130065345, PANK2
(E104*)
Single nucleotide variant
(5 prime UTR variant +3 more)
Pigmentary pallidal degeneration
+1 more
GPathogenic/Likely pathogenic
LOC130065345, PANK2
(L111Q)
Single nucleotide variant
(5 prime UTR variant +4 more)
not provided
+2 more
GBenign/Likely benign
LOC130065345, PANK2
(G126A +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
+3 more
GBenign
LOC130065345, PANK2
(G127V +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+3 more
GBenign/Likely benign
PANK2, LOC130065345
(S169T +1 more)
Indel
(5 prime UTR variant +3 more)
not provided
+1 more
GUncertain significance
LOC130065345, PANK2
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PANK2
Single nucleotide variant
(synonymous variant +2 more)
Pigmentary pallidal degeneration
+1 more
GConflicting classifications of pathogenicity
PANK2
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PANK2
(C428Y +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PANK2
Duplication
(intron variant)
not specified
+2 more
GBenign
PANK2
(G230R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
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