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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF462
(E391D)
Single nucleotide variant
(missense variant)
Weiss-Kruszka syndrome
GUncertain significance
ZNF462
(D780G)
Single nucleotide variant
(missense variant)
Weiss-Kruszka syndrome
GUncertain significance
ZNF462
(W1394fs)
Duplication
(frameshift variant +1 more)
Weiss-Kruszka syndrome
GLikely pathogenic
ZNF462
(S1933C)
Single nucleotide variant
(missense variant +1 more)
Weiss-Kruszka syndrome
GUncertain significance
ZNF462
Single nucleotide variant
(intron variant)
Weiss-Kruszka syndrome
GUncertain significance
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