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Links from MedGen

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF335
(Q781fs)
Deletion
(frameshift variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(K633E)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(D491H)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(T583M)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(H1296fs)
Microsatellite
(frameshift variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(R1092W)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(H1069R)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(R688W)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(C683R)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(S1007fs)
Insertion
(frameshift variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GPathogenic
ZNF335
(R286Q)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GConflicting classifications of pathogenicity
ZNF335
(Q1290*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(R503H)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
Single nucleotide variant
(intron variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GBenign
ZNF335
Single nucleotide variant
(intron variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GBenign
ZNF335
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ZNF335
Single nucleotide variant
(intron variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GBenign
ZNF335
(P834S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ZNF335
(C964Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ZNF335
(G1116R)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GPathogenic/Likely pathogenic
ZNF335
Single nucleotide variant
(intron variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(Q1197*)
Single nucleotide variant
(nonsense)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(R619H)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GUncertain significance
ZNF335
(P1053L)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GConflicting classifications of pathogenicity
ZNF335
(P1267Q)
Single nucleotide variant
(missense variant)
ZNF335-related condition
+2 more
GBenign/Likely benign
ZNF335
Duplication
(intron variant)
not provided
+1 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ZNF335
(V35L)
Single nucleotide variant
(missense variant)
ZNF335-related condition
+2 more
GBenign/Likely benign
ZNF335
(P79S)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(R481G)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+2 more
GUncertain significance
ZNF335
(Y502C)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GPathogenic
ZNF335
(C467R)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GPathogenic
ZNF335
(V242del)
Microsatellite
(inframe_deletion)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GConflicting classifications of pathogenicity
ZNF335
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ZNF335
(E1333G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZNF335
Single nucleotide variant
(intron variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GBenign/Likely benign
ZNF335
Deletion
(intron variant)
not specified
+2 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ZNF335
(R270C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ZNF335
(S915fs)
Microsatellite
(frameshift variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GPathogenic/Likely pathogenic
ZNF335
(E1263*)
Single nucleotide variant
(nonsense)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GPathogenic
ZNF335
(T840fs)
Duplication
(frameshift variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GLikely pathogenic
ZNF335
(F724del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
ZNF335
(S294T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ZNF335
(A276T)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+2 more
GBenign/Likely benign
ZNF335
Deletion
(intron variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+2 more
GBenign
ZNF335
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ZNF335
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ZNF335
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ZNF335
(D865E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ZNF335
Single nucleotide variant
(intron variant)
ZNF335-related condition
+2 more
GBenign
ZNF335
(F723V)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+2 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ZNF335
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ZNF335
(R1111H)
Single nucleotide variant
(missense variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GPathogenic
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