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Links from Gene

Items: 1 to 100 of 170

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF592
(S930*)
Single nucleotide variant
(nonsense)
ZNF592-related disorder
GUncertain significance
ZNF592
Single nucleotide variant
(synonymous variant)
ZNF592-related disorder
GLikely benign
ZNF592
Single nucleotide variant
(synonymous variant)
ZNF592-related disorder
GLikely benign
ZNF592
(R937L)
Single nucleotide variant
(missense variant)
ZNF592-related disorder
GUncertain significance
ZNF592
(S318N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(E1212V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(E1187K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(S621Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P228S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(L183P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(R721G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(R634W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(R634Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(A29P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P270A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(K202R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(G157R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(D155G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(Q1266P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(I1143V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(A1112T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(G1087R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(L1060V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(T1044A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(R977W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(A931V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF592
(H875R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(A835T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(R778G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(I711V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P701A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P694S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P61L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(A584T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(V565M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(S561T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(E420K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(K359N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALPK3, NMB
+6 more
Copy number loss
not provided
GUncertain significance
ZNF592
Single nucleotide variant
(synonymous variant)
ZNF592-related disorder
GLikely benign
ZNF592
Single nucleotide variant
(synonymous variant)
ZNF592-related disorder
GLikely benign
ZNF592
(Q853H)
Single nucleotide variant
(missense variant)
ZNF592-related disorder
GLikely benign
ZNF592
(L127M)
Single nucleotide variant
(missense variant)
ZNF592-related disorder
GBenign
ZNF592
Single nucleotide variant
(synonymous variant)
ZNF592-related disorder
GLikely benign
ALPK3, NMB
+6 more
Copy number gain
not provided
GUncertain significance
ADAMTSL3, ALPK3
+19 more
Copy number gain
not provided
GUncertain significance
ZNF592
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF592
(P269A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(S98P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF592
(N93S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(I802V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(V645I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
ZNF592
(S1005R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(A259V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(L1123H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(T981S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(I86V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(K230Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P205L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALPK3, NMB
+6 more
Copy number loss
WDR73-related disorder
GPathogenic
ABHD2, ACAN
+86 more
Copy number gain
not provided
GPathogenic
AAGAB, ABHD17C
+209 more
Copy number gain
not provided
GPathogenic
ZNF592
(A1105T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P1238L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF592
(R919Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(A1191V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(G476D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P854T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(V891I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(E923K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(S89N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P172T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P172L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P270L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(G176R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(V611I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(D310Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(N1247S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P172R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(R333Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P976S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(A1232V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF592
(P136R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(D303H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(L900F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(R937C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(V902M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(N224S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(T887M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P207A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P64L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(L1263V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P190L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(G239E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(A968V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P475S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(T1262A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF592
(G222R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF592
(P40S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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