"Genome-Nilou Lab"[submitter] AND "SZT2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 524

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 806118	NM_001365999.1(SZT2):c.17C>G (p.Pro6Arg)	LOC129930379, SZT2 (P6R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 374467	NM_001365999.1(SZT2):c.74G>A (p.Arg25Gln)	SZT2 (R25Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 964534	NM_001365999.1(SZT2):c.284G>A (p.Arg95Gln)	SZT2 (R95Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
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 840236	NM_001365999.1(SZT2):c.379C>T (p.Arg127Cys)	SZT2 (R127C)	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 860451	NM_001365999.1(SZT2):c.400C>T (p.Arg134Trp)	SZT2 (R134W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 1099671	NM_001365999.1(SZT2):c.429C>T (p.Ile143=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely benign
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 862280	NM_001365999.1(SZT2):c.479T>C (p.Ile160Thr)	SZT2 (I160T)	Single nucleotide variant (missense variant)	not provided +2 more	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 697778	NM_001365999.1(SZT2):c.528T>C (p.Pro176=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	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 589980	NM_001365999.1(SZT2):c.603G>A (p.Leu201=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 376947	NM_001365999.1(SZT2):c.616G>A (p.Asp206Asn)	SZT2 (D206N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1029532	NM_001365999.1(SZT2):c.640C>G (p.Gln214Glu)	SZT2 (Q214E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 661202	NM_001365999.1(SZT2):c.653C>T (p.Ser218Leu)	SZT2 (S218L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 870405	NM_001365999.1(SZT2):c.670C>T (p.Arg224Trp)	SZT2 (R224W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 589184	NM_001365999.1(SZT2):c.847C>T (p.Arg283Cys)	SZT2 (R283C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 1007975	NM_001365999.1(SZT2):c.992C>T (p.Pro331Leu)	SZT2 (P331L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 805602	NM_001365999.1(SZT2):c.1000G>T (p.Gly334Cys)	SZT2 (G334C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 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 1019246	NM_001365999.1(SZT2):c.1039C>T (p.Leu347Phe)	SZT2 (L347F)	Single nucleotide variant (missense variant)	not provided +2 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 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 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 1089350	NM_001365999.1(SZT2):c.1191C>T (p.Ala397=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +2 more	GLikely benign
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 658021	NM_001365999.1(SZT2):c.1241G>T (p.Arg414Leu)	SZT2 (R414L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1040837	NM_001365999.1(SZT2):c.1261+4A>G	SZT2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
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 1105560	NM_001365999.1(SZT2):c.1302A>G (p.Lys434=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 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 588186	NM_001365999.1(SZT2):c.1335A>T (p.Ala445=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 839249	NM_001365999.1(SZT2):c.1395C>T (p.Gly465=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +2 more	GLikely benign
Select item 1016069	NM_001365999.1(SZT2):c.1396G>A (p.Gly466Ser)	SZT2 (G466S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 1019771	NM_001365999.1(SZT2):c.1475G>A (p.Arg492His)	SZT2 (R492H)	Single nucleotide variant (missense variant)	not provided +2 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 697081	NM_001365999.1(SZT2):c.1488G>A (p.Thr496=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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 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 841151	NM_001365999.1(SZT2):c.1797G>A (p.Pro599=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely benign
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 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 587914	NM_001365999.1(SZT2):c.2034C>T (p.His678=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1295760	NM_001365999.1(SZT2):c.2037+48G>A	SZT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 411938	NM_001365999.1(SZT2):c.2038-3C>T	SZT2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1046236	NM_001365999.1(SZT2):c.2074C>T (p.Arg692Cys)	SZT2 (R692C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 1133416	NM_001365999.1(SZT2):c.2169A>T (p.Ser723=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 999137	NM_001365999.1(SZT2):c.2192A>C (p.Gln731Pro)	SZT2 (Q731P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 945771	NM_001365999.1(SZT2):c.2206C>T (p.Arg736Trp)	SZT2 (R736W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1156492	NM_001365999.1(SZT2):c.2208G>T (p.Arg736=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 846980	NM_001365999.1(SZT2):c.2220G>A (p.Val740=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely benign
Select item 589156	NM_001365999.1(SZT2):c.2228A>G (p.His743Arg)	SZT2 (H743R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 695710	NM_001365999.1(SZT2):c.2256-10C>T	SZT2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 411925	NM_001365999.1(SZT2):c.2353A>G (p.Ser785Gly)	SZT2 (S785G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 241029	NM_001365999.1(SZT2):c.2356C>T (p.Leu786=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 430047	NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter)	SZT2 (S788*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18 +1 more	GPathogenic/Likely pathogenic
Select item 698292	NM_001365999.1(SZT2):c.2409G>A (p.Pro803=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +1 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 588028	NM_001365999.1(SZT2):c.2427G>A (p.Ala809=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 806120	NM_001365999.1(SZT2):c.2468C>T (p.Thr823Ile)	SZT2 (T823I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 806121	NM_001365999.1(SZT2):c.2471+8A>T	SZT2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely benign
Select item 436930	NM_001365999.1(SZT2):c.2477G>A (p.Arg826Gln)	SZT2 (R826Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +3 more	GUncertain significance
Select item 589947	NM_001365999.1(SZT2):c.2499C>T (p.Phe833=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 806122	NM_001365999.1(SZT2):c.2500G>A (p.Ala834Thr)	SZT2 (A834T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 663354	NM_001365999.1(SZT2):c.2528T>C (p.Met843Thr)	SZT2 (M843T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

<< First< Prev

Page of 6