U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 338

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTAN1
(Q1148H +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
DYNC2I2, GLE1
+1 more
Copy number loss
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(A550fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(D1898fs +4 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(W1005* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(E41* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(S2367A +8 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(A1276T +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(R156* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 5
+2 more
GLikely pathogenic
SPTAN1
(E13Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(S658R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+1 more
GUncertain significance
SPTAN1
(H1831fs +4 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(T1981S +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GLikely benign
SPTAN1
(F1430L +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(K1189T +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(P2379L +8 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+1 more
GConflicting classifications of pathogenicity
SPTAN1
(Y1273H +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+4 more
GConflicting classifications of pathogenicity
SPTAN1
(M2062V +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
SPTAN1
(C1910Y +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(A961T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GLikely benign
SPTAN1
(F46L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(D1501Y +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
Duplication
(inframe_insertion)
Developmental and epileptic encephalopathy, 5
GPathogenic
SPTAN1
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 5
+1 more
GConflicting classifications of pathogenicity
SPTAN1
Deletion
Developmental and epileptic encephalopathy, 5
GPathogenic
SPTAN1
(S2385F +8 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GPathogenic
SPTAN1
(A570T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(A1577T +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
Duplication
(inframe_insertion)
Developmental and epileptic encephalopathy, 5
GPathogenic
SPTAN1
(R2230H +8 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+2 more
GConflicting classifications of pathogenicity
SPTAN1
(R25* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SPTAN1
(E1203K +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+1 more
GUncertain significance
SPTAN1
(K1648E +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(Q404* +1 more)
Single nucleotide variant
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(E2072Q +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
SPTAN1
(K2032R +4 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
SPTAN1
(T2283M +8 more)
Single nucleotide variant
(missense variant)
SPTAN1-related disorder
+2 more
GUncertain significance
SPTAN1
(G1773C +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(D281* +1 more)
Duplication
(nonsense)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 5
GLikely benign
SPTAN1
(A306V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(G178D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(D2259del +8 more)
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(N2183del +5 more)
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(R1751W +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+1 more
GConflicting classifications of pathogenicity
SPTAN1
(V1657M +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(R1311S +2 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
SPTAN1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 5
+2 more
GBenign
SPTAN1
(D1309H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SPTAN1
(R139* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(R2037W +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SPTAN1
(A2372T +8 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SPTAN1
(R1371Q +2 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
SPTAN1
(D1239N +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(A820S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(L1527Q +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
(R1078C +2 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SPTAN1
Deletion
(splice donor variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SPTAN1
(Q1428P +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GPathogenic
SPTAN1
(E2111Q +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GLikely benign
SPTAN1
(L327P +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GLikely benign
SPTAN1
(E2246K +8 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SPTAN1
(R733* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(L102R +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
SPTAN1
(L939F +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(Q1621* +4 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 5
GPathogenic
SPTAN1
(R25Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+1 more
GUncertain significance
SPTAN1
(R2179Q +5 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+1 more
GUncertain significance
SPTAN1
(E2387K +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SPTAN1
(K1465N +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(K871fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(E873K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+1 more
GUncertain significance
SPTAN1
(W872R +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
SPTAN1
(S2417K +8 more)
Indel
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
SPTAN1
(I1903T +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SPTAN1
(E2460K +8 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SPTAN1
(Q486E +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(M1078V +1 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SPTAN1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
Deletion
Developmental and epileptic encephalopathy, 5
GPathogenic
SPTAN1
(A2148V +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SPTAN1
(R1065H +1 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
SPTAN1
(K2058del +4 more)
Microsatellite
(inframe_deletion)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
SPTAN1
(R1736W +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+3 more
GUncertain significance
SPTAN1
(I958M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SPTAN1
(K1750R +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+3 more
GUncertain significance
SPTAN1
(A2233T +5 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+1 more
GConflicting classifications of pathogenicity
SPTAN1
(H1806Q +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SPTAN1
(H1467L +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GLikely pathogenic
SPTAN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GBenign
SPTAN1
(C1314Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SPTAN1
(M2380T +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SPTAN1
Duplication
(inframe_insertion)
Developmental and epileptic encephalopathy, 5
+1 more
GLikely pathogenic
SPTAN1
(A2485T +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GBenign/Likely benign
SPTAN1
(F2160S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+4 more
GConflicting classifications of pathogenicity
SPTAN1
(G1936R +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SPTAN1
(E457D)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
Format
Items per page
Sort by
Choose Destination