ClinVar for MedGen (Select 815954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370429	NM_001365999.1(SZT2):c.2814+2T>G	SZT2	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 3361514	NM_001365999.1(SZT2):c.7511+3_7511+4del	SZT2	Deletion (splice donor variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 3341355	NM_001365999.1(SZT2):c.6253_6255del (p.Tyr2085del)	SZT2 (Y2028del +1 more)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 3341085	NM_001365999.1(SZT2):c.8589del (p.His2863fs)	SZT2 (H2806fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 3254920	NM_001365999.1(SZT2):c.203G>A (p.Trp68Ter)	SZT2 (W68*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18	GPathogenic
Select item 3236411	NM_001365999.1(SZT2):c.4401+1G>A	SZT2	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 3068033	NM_001365999.1(SZT2):c.6836A>G (p.Tyr2279Cys)	SZT2 (Y2222C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 3065475	NM_001365999.1(SZT2):c.6430C>T (p.Arg2144Cys)	SZT2 (R2087C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 3064435	NM_001365999.1(SZT2):c.6112T>G (p.Cys2038Gly)	SZT2 (C1981G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 3062059	NM_001365999.1(SZT2):c.5749T>G (p.Phe1917Val)	SZT2 (F1860V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 3062045	NM_001365999.1(SZT2):c.4699del (p.Leu1567fs)	SZT2 (L1510fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 3024395	NM_001365999.1(SZT2):c.3424A>C (p.Thr1142Pro)	SZT2 (T1085P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2921086	NM_001365999.1(SZT2):c.956C>G (p.Ala319Gly)	SZT2 (A319G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2690762	NM_001365999.1(SZT2):c.1513C>T (p.Gln505Ter)	SZT2 (Q505*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 2690217	NM_001365999.1(SZT2):c.10254_10260del (p.Val3419fs)	SZT2 (V3362fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2690216	NM_001365999.1(SZT2):c.5902C>G (p.Gln1968Glu)	SZT2 (Q1911E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2664965	NM_001365999.1(SZT2):c.1858C>G (p.Leu620Val)	SZT2 (L620V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2613347	NM_001365999.1(SZT2):c.9722C>A (p.Ala3241Glu)	SZT2, SZT2-AS1 (A3184E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2585049	NM_001365999.1(SZT2):c.7488dup (p.Asp2497fs)	SZT2 (D2497fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2584876	NM_001365999.1(SZT2):c.1108_1111del (p.Phe370fs)	SZT2 (F370fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 2554119	NM_001365999.1(SZT2):c.4817G>A (p.Arg1606Gln)	SZT2 (R1606Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GConflicting classifications of pathogenicity
Select item 2500095	NM_001365999.1(SZT2):c.8276T>C (p.Leu2759Pro)	SZT2 (L2702P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2500094	NM_001365999.1(SZT2):c.9640A>G (p.Lys3214Glu)	SZT2, SZT2-AS1 (K3157E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2436923	NM_001365999.1(SZT2):c.5419A>G (p.Arg1807Gly)	SZT2 (R1750G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2436921	NM_001365999.1(SZT2):c.2473G>T (p.Val825Phe)	SZT2 (V825F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2436920	NM_001365999.1(SZT2):c.9656C>A (p.Pro3219His)	SZT2, SZT2-AS1 (P3162H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2436919	NM_001365999.1(SZT2):c.489G>T (p.Gln163His)	SZT2 (Q163H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2436918	NM_001365999.1(SZT2):c.7861C>T (p.Pro2621Ser)	SZT2 (P2564S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2436917	NM_001365999.1(SZT2):c.*2622C>T	HYI, SZT2	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2224704	NM_001365999.1(SZT2):c.7652G>A (p.Arg2551Gln)	SZT2 (R2494Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2196910	NM_001365999.1(SZT2):c.4607C>G (p.Thr1536Ser)	SZT2 (T1536S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2186856	NM_001365999.1(SZT2):c.475A>T (p.Ile159Phe)	SZT2 (I159F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 2168501	NM_001365999.1(SZT2):c.4021C>G (p.Pro1341Ala)	SZT2 (P1341A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 2154272	NM_001365999.1(SZT2):c.1444C>T (p.Arg482Cys)	SZT2 (R482C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137893	NM_001365999.1(SZT2):c.6410C>T (p.Pro2137Leu)	SZT2 (P2080L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2078660	NM_001365999.1(SZT2):c.4571C>A (p.Ala1524Asp)	SZT2 (A1467D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2037154	NM_001365999.1(SZT2):c.9339C>T (p.Tyr3113=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1990535	NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter)	SZT2 (R161* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1931916	NM_001365999.1(SZT2):c.4324A>C (p.Ile1442Leu)	SZT2 (I1385L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1897517	NM_001365999.1(SZT2):c.5812A>G (p.Ile1938Val)	SZT2 (I1881V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1878929	NM_001365999.1(SZT2):c.9131C>T (p.Ser3044Leu)	SZT2 (S191L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1878704	NM_001365999.1(SZT2):c.4834C>T (p.Leu1612Phe)	SZT2 (L1555F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1778871	NM_001365999.1(SZT2):c.1057A>G (p.Ser353Gly)	SZT2 (S353G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1777173	NM_001365999.1(SZT2):c.10216C>A (p.Pro3406Thr)	SZT2 (P3349T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1768347	NM_001365999.1(SZT2):c.10002C>T (p.Tyr3334=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18 +2 more	GLikely benign
Select item 1767956	NM_001365999.1(SZT2):c.9881G>A (p.Arg3294Gln)	SZT2, SZT2-AS1 (R3237Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1756845	NM_001365999.1(SZT2):c.7213A>G (p.Ser2405Gly)	SZT2 (S2405G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1742343	NM_001365999.1(SZT2):c.4844C>T (p.Thr1615Ile)	SZT2 (T1558I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1732920	NM_001365999.1(SZT2):c.3755A>G (p.Gln1252Arg)	SZT2 (Q1252R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1723227	NM_001365999.1(SZT2):c.7070T>A (p.Leu2357Ter)	SZT2 (L2300* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 1713485	NM_001365999.1(SZT2):c.9934C>T (p.His3312Tyr)	SZT2, SZT2-AS1 (H3255Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1710850	NM_001365999.1(SZT2):c.1240C>G (p.Arg414Gly)	SZT2 (R414G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1696576	NM_001365999.1(SZT2):c.*1719del	HYI, SZT2	Deletion (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 1691285	NM_001365999.1(SZT2):c.5797C>T (p.His1933Tyr)	SZT2 (H1876Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 1679755	NM_001365999.1(SZT2):c.3784C>T (p.Pro1262Ser)	SZT2 (P1205S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 1673795	NM_001365999.1(SZT2):c.8430C>T (p.Arg2810=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +2 more	GLikely benign
Select item 1633127	NM_001365999.1(SZT2):c.8151+11C>T	SZT2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1610669	NM_001365999.1(SZT2):c.8280C>T (p.Asp2760=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely benign
Select item 1598112	NM_001365999.1(SZT2):c.7230G>T (p.Ser2410=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1533096	NM_001365999.1(SZT2):c.2412A>C (p.Ser804=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +2 more	GLikely benign
Select item 1513104	NM_001365999.1(SZT2):c.5666C>G (p.Ala1889Gly)	SZT2 (A1889G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1507822	NM_001365999.1(SZT2):c.8833C>T (p.Arg2945Trp)	SZT2 (R2945W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1484930	NM_001365999.1(SZT2):c.4189G>A (p.Glu1397Lys)	SZT2 (E1340K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1481628	NM_001365999.1(SZT2):c.4200T>G (p.Phe1400Leu)	SZT2 (F1343L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468983	NM_001365999.1(SZT2):c.527C>G (p.Pro176Arg)	SZT2 (P176R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1463007	NM_001365999.1(SZT2):c.8197A>G (p.Ile2733Val)	SZT2 (I2676V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1456246	NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter)	SZT2 (Q2522* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18 +1 more	GPathogenic
Select item 1445038	NM_001365999.1(SZT2):c.1765G>T (p.Asp589Tyr)	SZT2 (D589Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1443608	NM_001365999.1(SZT2):c.2579A>C (p.Glu860Ala)	SZT2 (E860A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1438569	NM_001365999.1(SZT2):c.8797C>G (p.Pro2933Ala)	SZT2 (P2876A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1420441	NM_001365999.1(SZT2):c.3581G>A (p.Ser1194Asn)	SZT2 (S1194N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1418655	NM_001365999.1(SZT2):c.9523C>G (p.Pro3175Ala)	SZT2, SZT2-AS1 (P3175A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1415732	NM_001365999.1(SZT2):c.7957G>C (p.Glu2653Gln)	SZT2 (E2653Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1412151	NM_001365999.1(SZT2):c.4246T>G (p.Ser1416Ala)	SZT2 (S1416A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1410681	NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter)	SZT2 (R1157* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1408776	NM_001365999.1(SZT2):c.8225G>A (p.Arg2742His)	SZT2 (R2685H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1401938	NM_001365999.1(SZT2):c.2786A>G (p.Asp929Gly)	SZT2 (D929G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1400979	NM_001365999.1(SZT2):c.185G>C (p.Ser62Thr)	SZT2 (S62T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1397481	NM_001365999.1(SZT2):c.4438A>G (p.Ser1480Gly)	SZT2 (S1480G +1 more)	Single nucleotide variant (missense variant)	SZT2-related disorder +2 more	GUncertain significance
Select item 1383467	NM_001365999.1(SZT2):c.6322T>C (p.Trp2108Arg)	SZT2 (W2108R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1375694	NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter)	SZT2 (R2047* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18 +2 more	GPathogenic/Likely pathogenic
Select item 1369135	NM_001365999.1(SZT2):c.4642G>T (p.Gly1548Trp)	SZT2 (G1548W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1367999	NM_001365999.1(SZT2):c.7900C>G (p.Pro2634Ala)	SZT2 (P2577A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1364838	NM_001365999.1(SZT2):c.8141G>A (p.Arg2714Gln)	SZT2 (R2657Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1351518	NM_001365999.1(SZT2):c.3019A>T (p.Met1007Leu)	SZT2 (M1007L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1350206	NM_001365999.1(SZT2):c.5720C>T (p.Ser1907Leu)	SZT2 (S1850L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1334974	NM_001365999.1(SZT2):c.1488G>T (p.Thr496=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely benign
Select item 1334918	NM_001365999.1(SZT2):c.7185A>G (p.Ser2395=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18	GBenign
Select item 1333557	NM_001365999.1(SZT2):c.6623T>G (p.Val2208Gly)	SZT2 (V2151G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 1327242	NM_001365999.1(SZT2):c.6592G>C (p.Val2198Leu)	SZT2 (V2141L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1315004	NM_001365999.1(SZT2):c.2095A>T (p.Ser699Cys)	SZT2 (S699C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1314265	NM_001365999.1(SZT2):c.9302C>T (p.Pro3101Leu)	SZT2 (P3044L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1313815	NM_001365999.1(SZT2):c.3257A>G (p.Glu1086Gly)	SZT2 (E1029G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1313354	NM_001365999.1(SZT2):c.8104C>T (p.Leu2702Phe)	SZT2 (L2645F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1311299	NM_001365999.1(SZT2):c.3550A>C (p.Lys1184Gln)	SZT2 (K1127Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1308912	NM_001365999.1(SZT2):c.8594C>G (p.Pro2865Arg)	SZT2 (P2808R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1307893	NM_001365999.1(SZT2):c.9196C>T (p.Arg3066Trp)	SZT2 (R3009W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1305934	NM_001365999.1(SZT2):c.7264A>G (p.Thr2422Ala)	SZT2 (T2365A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305493	NM_001365999.1(SZT2):c.3905G>A (p.Arg1302Gln)	SZT2 (R1245Q +1 more)	Single nucleotide variant (missense variant)	SZT2-related disorder +3 more	GUncertain significance
Select item 1305473	NM_001365999.1(SZT2):c.1007T>G (p.Leu336Arg)	SZT2 (L336R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance

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