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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPHN
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
GLikely benign
GPHN, RDH12
(R161Q)
Single nucleotide variant
(missense variant)
Retinitis Pigmentosa, Recessive
+5 more
GBenign/Likely benign