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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PANK2
(Y227C +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GPathogenic
PANK2
(R15* +3 more)
Single nucleotide variant
(nonsense +1 more)
Pigmentary pallidal degeneration
+1 more
GPathogenic/Likely pathogenic
PANK2
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PANK2
(G230R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GPathogenic
MIR103A2, MIR103B2
+1 more
(T237M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic
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