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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PANK2, LOC130065345
(R183fs +1 more)
Insertion
(5 prime UTR variant +3 more)
Pigmentary pallidal degeneration
+1 more
GPathogenic
PANK2
(C166fs +1 more)
Microsatellite
(5 prime UTR variant +2 more)
Pigmentary pallidal degeneration
GPathogenic/Likely pathogenic
PANK2
Single nucleotide variant
(splice acceptor variant)
Pigmentary pallidal degeneration
GLikely pathogenic
PANK2
(K115I +2 more)
Single nucleotide variant
(missense variant +2 more)
Pigmentary pallidal degeneration
GConflicting classifications of pathogenicity
PANK2
(K478E +3 more)
Single nucleotide variant
(missense variant +1 more)
Pigmentary pallidal degeneration
+2 more
GConflicting classifications of pathogenicity
PANK2
(R190Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PANK2
(R215S +3 more)
Single nucleotide variant
(missense variant +1 more)
Pigmentary pallidal degeneration
GUncertain significance
PANK2
Single nucleotide variant
(intron variant)
Pigmentary pallidal degeneration
GUncertain significance
PANK2
Deletion
(inframe_deletion +1 more)
Pigmentary pallidal degeneration
GUncertain significance
PANK2
(K111E +3 more)
Single nucleotide variant
(missense variant +1 more)
Pigmentary pallidal degeneration
GUncertain significance
PANK2
Single nucleotide variant
(stop lost +1 more)
Pigmentary pallidal degeneration
GUncertain significance
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