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Links from MedGen

Items: 1 to 100 of 590

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SZT2
(A319G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(Q505*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 18
GLikely pathogenic
SZT2
(V3362fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(Q1911E +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(L620V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2, SZT2-AS1
(A3184E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(D2497fs +1 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 18
+1 more
GPathogenic/Likely pathogenic
SZT2
(F370fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 18
GLikely pathogenic
SZT2
(L2702P +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2, SZT2-AS1
(K3157E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(R1750G +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(V825F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2, SZT2-AS1
(P3162H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(Q163H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(P2564S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
HYI, SZT2
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(R2494Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+2 more
GUncertain significance
SZT2
(T1536S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+2 more
GUncertain significance
SZT2
(I159F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(P1341A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(R482C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SZT2
(P2080L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+2 more
GUncertain significance
SZT2
(A1467D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 18
+1 more
GLikely benign
SZT2
(R161* +2 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 18
+1 more
GPathogenic
SZT2
(I1385L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+2 more
GUncertain significance
SZT2
(I1881V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SZT2
(S191L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(L1555F +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+2 more
GUncertain significance
SZT2
(S353G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SZT2
(P3349T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2, SZT2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+2 more
GLikely benign
SZT2-AS1, SZT2
(R3237Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 18
+2 more
GUncertain significance
SZT2
(S2405G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(T1558I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(Q1252R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(L2300* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 18
GLikely pathogenic
SZT2, SZT2-AS1
(H3255Y +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(R414G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HYI, SZT2
Deletion
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(H1876Y +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(P1205S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SZT2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
SZT2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SZT2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
SZT2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 18
+2 more
GLikely benign
SZT2
(A1889G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SZT2
(E1340K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(F1343L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SZT2
(P176R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SZT2
(I2676V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(Q2522* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SZT2
(D589Y)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(E860A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SZT2
(P2876A +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+2 more
GUncertain significance
SZT2
(S1194N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2, SZT2-AS1
(P3175A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
SZT2
(E2653Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(S1416A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(R1157* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 18
+1 more
GPathogenic/Likely pathogenic
SZT2
(R2685H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(D929G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(S62T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SZT2
(S1480G +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+2 more
GUncertain significance
SZT2
(W2108R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(R2047* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 18
+2 more
GPathogenic/Likely pathogenic
SZT2
(G1548W +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+2 more
GUncertain significance
SZT2
(P2577A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(R2657Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(M1007L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SZT2
(S1850L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 18
+1 more
GLikely benign
SZT2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 18
GBenign
SZT2
(V2151G +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GUncertain significance
SZT2
(V2141L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(S699C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(P3044L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SZT2
(E1029G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SZT2
(L2645F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SZT2
(K1127Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(P2808R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SZT2
(R3009W +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(T2365A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SZT2
(R1245Q +1 more)
Single nucleotide variant
(missense variant)
SZT2-related condition
+2 more
GUncertain significance
SZT2
(L336R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(R28Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(G2306R +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SZT2
(P1844S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
(S3063Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SZT2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SZT2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 18
+1 more
GBenign
SZT2
(S1314R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SZT2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 18
+1 more
GLikely benign
SZT2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
SZT2
(S2159R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 18
+1 more
GBenign/Likely benign
SZT2
(M318V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SZT2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 18
+1 more
GLikely benign
SZT2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 18
+1 more
GBenign/Likely benign
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