"GeneDx"[submitter] AND "SZT2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1228668	NC_000001.11:g.43389819C>T	SZT2	Single nucleotide variant	not provided	GBenign
Select item 1181729	NC_000001.11:g.43389857G>A	SZT2	Single nucleotide variant	not provided	GLikely benign
Select item 1295755	NC_000001.11:g.43389875A>G	SZT2	Single nucleotide variant	not provided	GBenign
Select item 1252133	NM_001365999.1(SZT2):c.-62G>C	LOC129930379, SZT2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1295756	NM_001365999.1(SZT2):c.27+244C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267336	NM_001365999.1(SZT2):c.28-338C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304666	NM_001365999.1(SZT2):c.83G>A (p.Arg28Gln)	SZT2 (R28Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 588005	NM_001365999.1(SZT2):c.137C>T (p.Thr46Ile)	SZT2 (T46I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1311408	NM_001365999.1(SZT2):c.140C>G (p.Pro47Arg)	SZT2 (P47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198403	NM_001365999.1(SZT2):c.153+1G>A	SZT2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1252791	NM_001365999.1(SZT2):c.154-37G>C	SZT2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 18 +1 more	GBenign
Select item 450662	NM_001365999.1(SZT2):c.184A>G (p.Ser62Gly)	SZT2 (S62G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693385	NM_001365999.1(SZT2):c.194C>G (p.Pro65Arg)	SZT2 (P65R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013734	NM_001365999.1(SZT2):c.245T>C (p.Val82Ala)	SZT2 (V82A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 840057	NM_001365999.1(SZT2):c.253A>T (p.Thr85Ser)	SZT2 (T85S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 842226	NM_001365999.1(SZT2):c.257G>A (p.Arg86Gln)	SZT2 (R86Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213477	NM_001365999.1(SZT2):c.327+238C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189164	NM_001365999.1(SZT2):c.327+258A>C	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 416961	NM_001365999.1(SZT2):c.348C>A (p.Ile116=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 411939	NM_001365999.1(SZT2):c.368A>G (p.His123Arg)	SZT2 (H123R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 852091	NM_001365999.1(SZT2):c.390C>T (p.Gly130=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1214269	NM_001365999.1(SZT2):c.498+173T>C	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186942	NM_001365999.1(SZT2):c.499-183C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 587919	NM_001365999.1(SZT2):c.559T>C (p.Tyr187His)	SZT2 (Y187H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 586768	NM_001365999.1(SZT2):c.629A>G (p.Gln210Arg)	SZT2 (Q210R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1205369	NM_001365999.1(SZT2):c.630+42G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217481	NM_001365999.1(SZT2):c.630+49T>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223385	NM_001365999.1(SZT2):c.630+293C>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 588750	NM_001365999.1(SZT2):c.670C>G (p.Arg224Gly)	SZT2 (R224G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 834791	NM_001365999.1(SZT2):c.671G>A (p.Arg224Gln)	SZT2 (R224Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 589675	NM_001365999.1(SZT2):c.675G>A (p.Lys225=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +2 more	GBenign/Likely benign
Select item 1038179	NM_001365999.1(SZT2):c.720G>A (p.Met240Ile)	SZT2 (M240I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 416979	NM_001365999.1(SZT2):c.759G>A (p.Ser253=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1233712	NM_001365999.1(SZT2):c.772+169A>G	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189570	NM_001365999.1(SZT2):c.772+213G>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207970	NM_001365999.1(SZT2):c.772+214A>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296232	NM_001365999.1(SZT2):c.773-207G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191246	NM_001365999.1(SZT2):c.773-85G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 701090	NM_001365999.1(SZT2):c.780C>T (p.Ile260=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 706414	NM_001365999.1(SZT2):c.835C>T (p.Leu279=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 958627	NM_001365999.1(SZT2):c.898T>C (p.Tyr300His)	SZT2 (Y300H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1191400	NM_001365999.1(SZT2):c.900T>C (p.Tyr300=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely benign
Select item 1706998	NM_001365999.1(SZT2):c.949G>A (p.Ala317Thr)	SZT2 (A317T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192023	NM_001365999.1(SZT2):c.952A>G (p.Met318Val)	SZT2 (M318V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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
Select item 836574	NM_001365999.1(SZT2):c.1027C>T (p.Arg343Trp)	SZT2 (R343W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1055243	NM_001365999.1(SZT2):c.1055G>A (p.Arg352His)	SZT2 (R352H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1193697	NM_001365999.1(SZT2):c.1090+63G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185936	NM_001365999.1(SZT2):c.1090+102G>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 944833	NM_001365999.1(SZT2):c.1091-1G>A	SZT2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 857603	NM_001365999.1(SZT2):c.1102C>T (p.Arg368Cys)	SZT2 (R368C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 964505	NM_001365999.1(SZT2):c.1103G>A (p.Arg368His)	SZT2 (R368H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 416976	NM_001365999.1(SZT2):c.1107A>G (p.Leu369=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3252528	NM_001365999.1(SZT2):c.1160G>A (p.Arg387Gln)	SZT2 (R387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836393	NM_001365999.1(SZT2):c.1213G>C (p.Val405Leu)	SZT2 (V405L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +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 1196164	NM_001365999.1(SZT2):c.1261+136A>C	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256943	NM_001365999.1(SZT2):c.1262-99A>G	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213176	NM_001365999.1(SZT2):c.1262-70C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203840	NM_001365999.1(SZT2):c.1262-36G>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194056	NM_001365999.1(SZT2):c.1262-14C>T	SZT2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 18 +1 more	GBenign/Likely benign
Select item 590177	NM_001365999.1(SZT2):c.1296G>A (p.Leu432=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 949382	NM_001365999.1(SZT2):c.1312C>T (p.Arg438Cys)	SZT2 (R438C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 260613	NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser)	SZT2 (P446S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 423418	NM_001365999.1(SZT2):c.1373G>A (p.Arg458Gln)	SZT2 (R458Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 696769	NM_001365999.1(SZT2):c.1458T>C (p.Arg486=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 697081	NM_001365999.1(SZT2):c.1488G>A (p.Thr496=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1200743	NM_001365999.1(SZT2):c.1497-95C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 697021	NM_001365999.1(SZT2):c.1584C>T (p.Ser528=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1056157	NM_001365999.1(SZT2):c.1613G>C (p.Gly538Ala)	SZT2 (G538A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1295761	NM_001365999.1(SZT2):c.1626+172G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201752	NM_001365999.1(SZT2):c.1626+311C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197330	NM_001365999.1(SZT2):c.1626+317C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216318	NM_001365999.1(SZT2):c.1627-187_1627-186del	SZT2	Deletion (intron variant)	not provided	GLikely benign
Select item 1008741	NM_001365999.1(SZT2):c.1742G>A (p.Arg581His)	SZT2 (R581H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1315344	NM_001365999.1(SZT2):c.1769C>T (p.Thr590Ile)	SZT2 (T590I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379739	NM_001365999.1(SZT2):c.1770-11C>T	SZT2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 18 +2 more	GLikely benign
Select item 416953	NM_001365999.1(SZT2):c.1791C>T (p.His597=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +2 more	GLikely benign
Select item 1009050	NM_001365999.1(SZT2):c.1864C>T (p.Arg622Trp)	SZT2 (R622W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 700232	NM_001365999.1(SZT2):c.1881C>T (p.Phe627=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely benign
Select item 1218395	NM_001365999.1(SZT2):c.1922+36_1922+51dup	SZT2	Duplication (intron variant)	not provided	GLikely benign
Select item 1251460	NM_001365999.1(SZT2):c.1922+38A>C	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200327	NM_001365999.1(SZT2):c.1922+45C>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251350	NM_001365999.1(SZT2):c.1922+46G>C	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1013836	NM_001365999.1(SZT2):c.1994G>A (p.Arg665His)	SZT2 (R665H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 590117	NM_001365999.1(SZT2):c.2014A>T (p.Thr672Ser)	SZT2 (T672S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1295760	NM_001365999.1(SZT2):c.2037+48G>A	SZT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1208229	NM_001365999.1(SZT2):c.2037+100C>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211677	NM_001365999.1(SZT2):c.2038-85G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288123	NM_001365999.1(SZT2):c.2038-46C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 969499	NM_001365999.1(SZT2):c.2069G>A (p.Arg690Gln)	SZT2 (R690Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 487580	NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp)	SZT2 (R696W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1310252	NM_001365999.1(SZT2):c.2107A>T (p.Thr703Ser)	SZT2 (T703S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 841363	NM_001365999.1(SZT2):c.2108C>T (p.Thr703Met)	SZT2 (T703M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 411933	NM_001365999.1(SZT2):c.2138G>T (p.Gly713Val)	SZT2 (G713V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1307518	NM_001365999.1(SZT2):c.2158C>T (p.Pro720Ser)	SZT2 (P720S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265626	NM_001365999.1(SZT2):c.2255+188_2255+229dup	SZT2	Duplication (intron variant)	not provided	GBenign
Select item 1295759	NM_001365999.1(SZT2):c.2255+230T>C	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263904	NM_001365999.1(SZT2):c.2255+273G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign

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