SZT2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
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 589842	NM_001365999.1(SZT2):c.-4T>C	LOC129930379, SZT2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 948657	NM_001365999.1(SZT2):c.5C>T (p.Ala2Val)	LOC129930379, SZT2 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148875	NM_001365999.1(SZT2):c.7T>G (p.Ser3Ala)	LOC129930379, SZT2 (S3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356282	NM_001365999.1(SZT2):c.8C>T (p.Ser3Leu)	LOC129930379, SZT2 (S3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 645668	NM_001365999.1(SZT2):c.10G>A (p.Glu4Lys)	LOC129930379, SZT2 (E4K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423194	NM_001365999.1(SZT2):c.14G>C (p.Arg5Pro)	LOC129930379, SZT2 (R5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938711	NM_001365999.1(SZT2):c.14G>T (p.Arg5Leu)	LOC129930379, SZT2 (R5L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1932076	NM_001365999.1(SZT2):c.18G>T (p.Pro6=)	LOC129930379, SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670290	NM_001365999.1(SZT2):c.21G>A (p.Glu7=)	LOC129930379, SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095271	NM_001365999.1(SZT2):c.24G>A (p.Pro8=)	LOC129930379, SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2036875	NM_001365999.1(SZT2):c.24G>C (p.Pro8=)	LOC129930379, SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021616	NM_001365999.1(SZT2):c.27+6GGGC[4]	LOC129930379, SZT2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2828552	NM_001365999.1(SZT2):c.27+8G>A	LOC129930379, SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2739365	NM_001365999.1(SZT2):c.27+13C>T	LOC129930379, SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894938	NM_001365999.1(SZT2):c.27+15G>A	LOC129930379, SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999061	NM_001365999.1(SZT2):c.27+17C>T	LOC129930379, SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729845	NM_001365999.1(SZT2):c.27+18G>A	LOC129930379, SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174185	NM_001365999.1(SZT2):c.27+19C>T	LOC129930379, SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2996666	NM_001365999.1(SZT2):c.28-16G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006155	NM_001365999.1(SZT2):c.28-15T>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802221	NM_001365999.1(SZT2):c.28-14C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 699315	NM_001365999.1(SZT2):c.28-5C>T	SZT2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1999297	NM_001365999.1(SZT2):c.28G>T (p.Val10Leu)	SZT2 (V10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000028	NM_001365999.1(SZT2):c.46G>A (p.Val16Met)	SZT2 (V16M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 947787	NM_001365999.1(SZT2):c.47T>C (p.Val16Ala)	SZT2 (V16A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1123535	NM_001365999.1(SZT2):c.51C>T (p.Phe17=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586582	NM_001365999.1(SZT2):c.54G>C (p.Leu18=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926537	NM_001365999.1(SZT2):c.60G>C (p.Met20Ile)	SZT2 (M20I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66996	NM_001365999.1(SZT2):c.73C>T (p.Arg25Ter)	SZT2 (R25*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18	GPathogenic
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 697089	NM_001365999.1(SZT2):c.78C>T (p.Ile26=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168514	NM_001365999.1(SZT2):c.80C>A (p.Ser27Tyr)	SZT2 (S27Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409683	NM_001365999.1(SZT2):c.82C>T (p.Arg28Ter)	SZT2 (R28*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2024425	NM_001365999.1(SZT2):c.87T>C (p.Asn29=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 951897	NM_001365999.1(SZT2):c.91C>T (p.Arg31Cys)	SZT2 (R31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 411934	NM_001365999.1(SZT2):c.92G>A (p.Arg31His)	SZT2 (R31H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1625455	NM_001365999.1(SZT2):c.94C>T (p.Leu32=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724092	NM_001365999.1(SZT2):c.99T>G (p.Ala33=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 433086	NM_001365999.1(SZT2):c.105C>G (p.Phe35Leu)	SZT2 (F35L)	Single nucleotide variant (missense variant)	Childhood epilepsy with centrotemporal spikes	GPathogenic
Select item 793595	NM_001365999.1(SZT2):c.108C>T (p.Leu36=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427346	NM_001365999.1(SZT2):c.116T>A (p.Leu39Gln)	SZT2 (L39Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961327	NM_001365999.1(SZT2):c.119A>G (p.His40Arg)	SZT2 (H40R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1123488	NM_001365999.1(SZT2):c.120C>T (p.His40=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1452459	NM_001365999.1(SZT2):c.126T>G (p.Thr42=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376190	NM_001365999.1(SZT2):c.127G>A (p.Val43Met)	SZT2 (V43M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1541422	NM_001365999.1(SZT2):c.132G>A (p.Gln44=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1042183	NM_001365999.1(SZT2):c.134C>G (p.Ala45Gly)	SZT2 (A45G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1118828	NM_001365999.1(SZT2):c.135C>T (p.Ala45=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1038844	NM_001365999.1(SZT2):c.145G>A (p.Glu49Lys)	SZT2 (E49K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053810	NM_001365999.1(SZT2):c.147G>A (p.Glu49=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1625480	NM_001365999.1(SZT2):c.153+13C>T	SZT2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1636205	NM_001365999.1(SZT2):c.153+17C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777359	NM_001365999.1(SZT2):c.153+18G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1669052	NM_001365999.1(SZT2):c.154-14A>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 933576	NM_001365999.1(SZT2):c.158A>C (p.Gln53Pro)	SZT2 (Q53P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1085291	NM_001365999.1(SZT2):c.159G>A (p.Gln53=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1022887	NM_001365999.1(SZT2):c.169G>A (p.Glu57Lys)	SZT2 (E57K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717539	NM_001365999.1(SZT2):c.178G>A (p.Val60Ile)	SZT2 (V60I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2716428	NM_001365999.1(SZT2):c.189C>G (p.Val63=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634797	NM_001365999.1(SZT2):c.192G>T (p.Leu64=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 859828	NM_001365999.1(SZT2):c.196C>G (p.Pro66Ala)	SZT2 (P66A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1113337	NM_001365999.1(SZT2):c.198T>G (p.Pro66=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 752337	NM_001365999.1(SZT2):c.222G>C (p.Val74=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1014320	NM_001365999.1(SZT2):c.238C>T (p.Leu80Phe)	SZT2 (L80F)	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 1570402	NM_001365999.1(SZT2):c.246A>G (p.Val82=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133632	NM_001365999.1(SZT2):c.252C>T (p.Ser84=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2860639	NM_001365999.1(SZT2):c.254C>G (p.Thr85Ser)	SZT2 (T85S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1793213	NM_001365999.1(SZT2):c.256C>A (p.Arg86=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1390254	NM_001365999.1(SZT2):c.256C>T (p.Arg86Trp)	SZT2 (R86W)	Single nucleotide variant (missense variant)	not provided	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 2012229	NM_001365999.1(SZT2):c.259G>C (p.Val87Leu)	SZT2 (V87L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1793619	NM_001365999.1(SZT2):c.259G>A (p.Val87Ile)	SZT2 (V87I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 797494	NM_001365999.1(SZT2):c.264C>T (p.Thr88=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006433	NM_001365999.1(SZT2):c.273T>A (p.Ala91=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1041835	NM_001365999.1(SZT2):c.283C>T (p.Arg95Trp)	SZT2 (R95W)	Single nucleotide variant (missense variant)	not provided +1 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 1431650	NM_001365999.1(SZT2):c.292A>T (p.Ile98Phe)	SZT2 (I98F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358723	NM_001365999.1(SZT2):c.296A>T (p.Glu99Val)	SZT2 (E99V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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