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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM12, LOC130002813
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
+1 more
GLikely benign
LOC130002813, PRDM12
(P239T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LOC130002813, PRDM12
(A240G)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
+1 more
GUncertain significance
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