U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 587

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ZNF335
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ZNF335
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
(V1336I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ZNF335
(D1335N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZNF335
(Y1334C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
(E1333G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZNF335
(Q1328H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
(Q1325E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZNF335
(E1322Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
(E1322K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZNF335
(E1318K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
(A1305T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZNF335
(D1304E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
(H1296fs)
Microsatellite
(frameshift variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(H1296Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
(A1293V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
(Q1290*)
Single nucleotide variant
(nonsense)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ZNF335
(P1281L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZNF335
Single nucleotide variant
(synonymous variant)
ZNF335-related disorder
GLikely benign
ZNF335
Deletion
(intron variant)
not specified
+2 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
Deletion
(intron variant)
not provided
GBenign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
(E1271K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
(P1267fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
ZNF335
(P1267Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ZNF335
(E1263*)
Single nucleotide variant
(nonsense)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GPathogenic
ZNF335
(G1255S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
(Q1253E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(intron variant)
ZNF335-related disorder
GLikely benign
ZNF335
Single nucleotide variant
(intron variant)
ZNF335-related disorder
GLikely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
(E1246D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
(Y1241F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
(Y1226C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ZNF335
Microsatellite
(intron variant)
ZNF335-related disorder
GLikely benign
ZNF335
Duplication
(intron variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
(D1221N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
(S1220A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
(L1217P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
(V1214I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZNF335
(I1206V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GBenign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
(Q1197*)
Single nucleotide variant
(nonsense)
Microcephalic primordial dwarfism due to ZNF335 deficiency
GUncertain significance
ZNF335
(I1187del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
(R1176Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ZNF335
(G1173C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
(G1170R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ZNF335
(L1165F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
Microcephalic primordial dwarfism due to ZNF335 deficiency
+1 more
GBenign/Likely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
Duplication
(intron variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GBenign
ZNF335
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF335
(I1149V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZNF335
Deletion
(inframe_deletion)
not provided
GUncertain significance
ZNF335
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination