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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SZT2, SZT2-AS1
(R3241H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Generalized epilepsy
+2 more
GUncertain significance
DDHD2
(D660H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 54
+5 more
GPathogenic/Likely pathogenic
GLDC
(R515S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
POLG, POLGARF
(L424fs)
Microsatellite
(frameshift variant)
Obesity
+4 more
GPathogenic
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