ClinVar for Gene (Select 23334) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371034	NM_001365999.1(SZT2):c.10265C>T (p.Thr3422Ile)	SZT2 (T3365I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3370067	NM_001365999.1(SZT2):c.6866C>A (p.Thr2289Asn)	SZT2 (T2232N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369698	NM_001365999.1(SZT2):c.9160G>T (p.Val3054Leu)	SZT2 (V2997L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366269	NM_001365999.1(SZT2):c.6713C>T (p.Ala2238Val)	SZT2 (A2181V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364835	NM_001365999.1(SZT2):c.4648G>A (p.Asp1550Asn)	SZT2 (D1493N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363845	NM_001365999.1(SZT2):c.5093G>A (p.Arg1698His)	SZT2 (R1641H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361832	NM_001365999.1(SZT2):c.2083C>A (p.His695Asn)	SZT2 (H695N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361514	NM_001365999.1(SZT2):c.7511+3_7511+4del	SZT2	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3360856	NM_001365999.1(SZT2):c.5789T>C (p.Val1930Ala)	SZT2 (V1873A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344631	NM_001365999.1(SZT2):c.4989C>T (p.Gly1663=)	SZT2	Single nucleotide variant (synonymous variant)	SZT2-related disorder	GLikely benign
Select item 3344386	NM_001365999.1(SZT2):c.5125_5140dup (p.Ile1714fs)	SZT2 (I1657fs +1 more)	Duplication (frameshift variant)	SZT2-related disorder	GLikely pathogenic
Select item 3342425	NM_001365999.1(SZT2):c.2749G>C (p.Val917Leu)	SZT2 (V917L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341689	NM_001190880.3(HYI):c.93C>T (p.Gly31=)	HYI, LOC129930381 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 3341057	NM_001365999.1(SZT2):c.5495T>C (p.Val1832Ala)	SZT2 (V1775A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340978	NM_001365999.1(SZT2):c.2671G>A (p.Val891Met)	SZT2 (V891M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340932	NM_001365999.1(SZT2):c.7610-1G>A	SZT2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3336118	NM_001365999.1(SZT2):c.5089-17T>G	SZT2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3336015	NM_001365999.1(SZT2):c.8500-6C>T	SZT2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3336013	NM_001365999.1(SZT2):c.9073-6C>G	SZT2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3324123	NM_001365999.1(SZT2):c.8821C>T (p.Arg2941Cys)	SZT2 (R2884C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324122	NM_001365999.1(SZT2):c.4837A>T (p.Ser1613Cys)	SZT2 (S1556C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324121	NM_001365999.1(SZT2):c.7325G>A (p.Arg2442His)	SZT2 (R2385H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324120	NM_001365999.1(SZT2):c.6344C>T (p.Pro2115Leu)	SZT2 (P2058L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3324119	NM_001365999.1(SZT2):c.2831C>G (p.Ala944Gly)	SZT2 (A944G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3285129	NM_001190880.3(HYI):c.409G>C (p.Ala137Pro)	HYI, SZT2 (A137P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 3252528	NM_001365999.1(SZT2):c.1160G>A (p.Arg387Gln)	SZT2 (R387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	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 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)	C1orf210, C1orf50 +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 disorder	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 disorder	GLikely benign
Select item 3044317	NM_001365999.1(SZT2):c.3044-7C>T	SZT2	Single nucleotide variant (intron variant)	SZT2-related disorder	GLikely benign
Select item 3031346	NM_001365999.1(SZT2):c.7707T>G (p.Ala2569=)	SZT2	Single nucleotide variant (synonymous variant)	SZT2-related disorder	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]	LOC129930379, SZT2	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

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