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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM12
(N43D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PRDM12
(R147H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PRDM12
(R168H)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
+1 more
GUncertain significance
LOC130002813, PRDM12
(D229A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRDM12
(R263S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRDM12
(Q331R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRDM12
(H343P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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