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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF462
(K1020N)
Single nucleotide variant
(missense variant)
Weiss-Kruszka syndrome
GUncertain significance
ZNF462
(G1201R)
Single nucleotide variant
(missense variant +1 more)
Weiss-Kruszka syndrome
GUncertain significance
ZNF462
(P1363S)
Single nucleotide variant
(missense variant +1 more)
Weiss-Kruszka syndrome
GUncertain significance
ZNF462
(E1414V)
Single nucleotide variant
(missense variant +1 more)
Weiss-Kruszka syndrome
GUncertain significance
ZNF462
(L1418V)
Single nucleotide variant
(missense variant +1 more)
Weiss-Kruszka syndrome
GUncertain significance
ZNF462
(E1421K)
Single nucleotide variant
(missense variant +1 more)
Weiss-Kruszka syndrome
GUncertain significance
ZNF462
(V1530L)
Single nucleotide variant
(missense variant +1 more)
Weiss-Kruszka syndrome
GUncertain significance
ZNF462
(G1336S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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