ClinVar for Gene (Select 23334) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173159	NM_001365999.1(SZT2):c.10109C>A (p.Thr3370Asn)	SZT2 (T3313N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173158	NM_001365999.1(SZT2):c.10008C>G (p.Ser3336Arg)	SZT2 (S3336R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173157	NM_001365999.1(SZT2):c.9256C>T (p.Pro3086Ser)	SZT2 (P233S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173156	NM_001365999.1(SZT2):c.9066C>G (p.Asn3022Lys)	SZT2 (N3022K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173155	NM_001365999.1(SZT2):c.8963C>T (p.Pro2988Leu)	SZT2 (P2931L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173154	NM_001365999.1(SZT2):c.8618A>G (p.Asp2873Gly)	SZT2 (D20G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173153	NM_001365999.1(SZT2):c.8587C>T (p.His2863Tyr)	SZT2 (H10Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173152	NM_001365999.1(SZT2):c.8584C>G (p.Leu2862Val)	SZT2 (L2805V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173150	NM_001365999.1(SZT2):c.7859G>A (p.Arg2620Lys)	SZT2 (R2563K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173148	NM_001365999.1(SZT2):c.7229C>T (p.Ser2410Leu)	SZT2 (S2410L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173146	NM_001365999.1(SZT2):c.5039C>A (p.Ser1680Tyr)	SZT2 (S1680Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173145	NM_001365999.1(SZT2):c.4589C>T (p.Ser1530Leu)	SZT2 (S1473L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173144	NM_001365999.1(SZT2):c.4363C>T (p.His1455Tyr)	SZT2 (H1455Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173142	NM_001365999.1(SZT2):c.3460C>A (p.Leu1154Met)	SZT2 (L1097M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173140	NM_001365999.1(SZT2):c.2269C>T (p.Pro757Ser)	SZT2 (P757S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173138	NM_001365999.1(SZT2):c.1204A>G (p.Thr402Ala)	SZT2 (T402A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107742	NM_001190880.3(HYI):c.601A>G (p.Ile201Val)	HYI, SZT2 (I201V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3107740	NM_001190880.3(HYI):c.407C>G (p.Ala136Gly)	HYI, SZT2 (A161G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 3067486	NM_001365999.1(SZT2):c.2739G>A (p.Gln913=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	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 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	LOC129930347, LOC129930348 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
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 3058173	NM_001365999.1(SZT2):c.9867G>A (p.Gly3289=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SZT2-related condition	GLikely benign
Select item 3046490	NM_001365999.1(SZT2):c.3058C>T (p.Pro1020Ser)	SZT2 (P1020S)	Single nucleotide variant (missense variant +1 more)	SZT2-related condition	GLikely benign
Select item 3044317	NM_001365999.1(SZT2):c.3044-7C>T	SZT2	Single nucleotide variant (intron variant)	SZT2-related condition	GLikely benign
Select item 3031346	NM_001365999.1(SZT2):c.7707T>G (p.Ala2569=)	SZT2	Single nucleotide variant (synonymous variant)	SZT2-related condition	GLikely benign
Select item 3026074	NM_001190880.3(HYI):c.540C>T (p.Asn180=)	HYI, SZT2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3025747	NM_001365999.1(SZT2):c.9888G>T (p.Gly3296=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 3023664	NM_001365999.1(SZT2):c.6081C>A (p.Ala2027=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023177	NM_001365999.1(SZT2):c.4825T>C (p.Leu1609=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021616	NM_001365999.1(SZT2):c.27+6GGGC[4]	SZT2, LOC129930379	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3019709	NM_001365999.1(SZT2):c.1059T>C (p.Ser353=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018384	NM_001365999.1(SZT2):c.7755A>C (p.Pro2585=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014450	NM_001365999.1(SZT2):c.8727G>A (p.Leu2909=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011338	NM_001365999.1(SZT2):c.9867G>T (p.Gly3289=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3008974	NM_001365999.1(SZT2):c.6188-9T>C	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008637	NM_001365999.1(SZT2):c.3285A>G (p.Thr1095=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008382	NM_001365999.1(SZT2):c.9234C>T (p.Phe3078=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007181	NM_001365999.1(SZT2):c.5991G>A (p.Glu1997=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005623	NM_001365999.1(SZT2):c.8151+14T>C	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002950	NM_001365999.1(SZT2):c.4917-17G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002804	NM_001365999.1(SZT2):c.3598+16C>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000678	NM_001365999.1(SZT2):c.8379T>C (p.His2793=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999542	NM_001365999.1(SZT2):c.6628-19T>A	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999533	NM_001365999.1(SZT2):c.1161G>T (p.Arg387=)	SZT2	Single nucleotide variant (synonymous 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 2999059	NM_001365999.1(SZT2):c.8151+6del	SZT2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2997493	NM_001365999.1(SZT2):c.3717C>A (p.Val1239=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997240	NM_001365999.1(SZT2):c.5028C>T (p.His1676=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996666	NM_001365999.1(SZT2):c.28-16G>A	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993288	NM_001365999.1(SZT2):c.1959C>G (p.Val653=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989193	NM_001365999.1(SZT2):c.2430G>A (p.Leu810=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986696	NM_001365999.1(SZT2):c.5088+16C>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986006	NM_001365999.1(SZT2):c.7665A>C (p.Pro2555=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976658	NM_001365999.1(SZT2):c.4824C>G (p.Pro1608=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968584	NM_001365999.1(SZT2):c.5814dup (p.Arg1939fs)	SZT2 (R1939fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2965271	NM_001365999.1(SZT2):c.1338C>T (p.Pro446=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965184	NM_001365999.1(SZT2):c.8076C>T (p.Ile2692=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964143	NM_001365999.1(SZT2):c.1626+16_1626+25del	SZT2	Deletion (intron variant)	not provided	GLikely benign
Select item 2960969	NM_001365999.1(SZT2):c.3309+19C>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960283	NM_001365999.1(SZT2):c.8500-20T>C	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959133	NM_001365999.1(SZT2):c.5024+7_5024+9del	SZT2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2958940	NM_001365999.1(SZT2):c.6352G>A (p.Ala2118Thr)	SZT2 (A2061T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956980	NM_001365999.1(SZT2):c.2471+14G>C	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955719	NM_001365999.1(SZT2):c.3309+20C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2919922	NM_001365999.1(SZT2):c.7323G>A (p.Arg2441=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919261	NM_001365999.1(SZT2):c.1053G>A (p.Leu351=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918443	NM_001365999.1(SZT2):c.7323G>T (p.Arg2441=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918208	NM_001365999.1(SZT2):c.7882G>A (p.Ala2628Thr)	SZT2 (A2571T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916221	NM_001365999.1(SZT2):c.1344C>T (p.Pro448=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914829	NM_001365999.1(SZT2):c.5024+7C>A	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913042	NM_001365999.1(SZT2):c.1002C>A (p.Gly334=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912957	NM_001365999.1(SZT2):c.4992C>T (p.Leu1664=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911232	NM_001365999.1(SZT2):c.7437C>T (p.His2479=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911089	NM_001365999.1(SZT2):c.6522G>A (p.Thr2174=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910632	NM_001365999.1(SZT2):c.8151+9T>G	SZT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2910055	NM_001365999.1(SZT2):c.9429G>A (p.Ser3143=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909081	NM_001365999.1(SZT2):c.1118A>G (p.His373Arg)	SZT2 (H373R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908484	NM_001365999.1(SZT2):c.6290+13del	SZT2	Deletion (intron variant)	not provided	GLikely benign
Select item 2906397	NM_001365999.1(SZT2):c.5677T>C (p.Leu1893=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906143	NM_001365999.1(SZT2):c.2301A>G (p.Thr767=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905950	NM_001365999.1(SZT2):c.8154G>A (p.Glu2718=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905634	NM_001365999.1(SZT2):c.2460C>T (p.Ser820=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904502	NM_001365999.1(SZT2):c.7499C>A (p.Ala2500Asp)	SZT2 (A2443D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903219	NM_001365999.1(SZT2):c.8825+8C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902026	NM_001365999.1(SZT2):c.6628-9A>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901650	NM_001365999.1(SZT2):c.630+14A>G	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900557	NM_001365999.1(SZT2):c.8791C>T (p.Leu2931=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899949	NM_001365999.1(SZT2):c.5024+19G>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898279	NM_001365999.1(SZT2):c.9564-6C>A	SZT2, SZT2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898212	NM_001365999.1(SZT2):c.9150T>C (p.His3050=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896694	NM_001365999.1(SZT2):c.4545G>A (p.Glu1515=)	SZT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896329	NM_001365999.1(SZT2):c.1093T>G (p.Ser365Ala)	SZT2 (S365A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894938	NM_001365999.1(SZT2):c.27+15G>A	LOC129930379, SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891603	NM_001365999.1(SZT2):c.9327G>T (p.Gln3109His)	SZT2 (Q3109H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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