"Ambry Genetics"[submitter] AND "SZT2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 1793619	NM_001365999.1(SZT2):c.259G>A (p.Val87Ile)	SZT2 (V87I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 588611	NM_001365999.1(SZT2):c.297G>A (p.Glu99=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	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 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 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 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 1746106	NM_001365999.1(SZT2):c.520T>C (p.Leu174=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1750877	NM_001365999.1(SZT2):c.598A>G (p.Met200Val)	SZT2 (M200V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2484153	NM_001365999.1(SZT2):c.610C>G (p.Gln204Glu)	SZT2 (Q204E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243469	NM_001365999.1(SZT2):c.612G>C (p.Gln204His)	SZT2 (Q204H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1752477	NM_001365999.1(SZT2):c.625A>G (p.Ser209Gly)	SZT2 (S209G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 1760628	NM_001365999.1(SZT2):c.778A>G (p.Ile260Val)	SZT2 (I260V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2228087	NM_001365999.1(SZT2):c.1003A>C (p.Asn335His)	SZT2 (N335H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2182572	NM_001365999.1(SZT2):c.1009G>A (p.Gly337Ser)	SZT2 (G337S)	Single nucleotide variant (missense variant)	not provided +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 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 589202	NM_001365999.1(SZT2):c.1060G>T (p.Gly354Trp)	SZT2 (G354W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787690	NM_001365999.1(SZT2):c.1086C>T (p.Tyr362=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 3173138	NM_001365999.1(SZT2):c.1204A>G (p.Thr402Ala)	SZT2 (T402A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309945	NM_001365999.1(SZT2):c.1241G>A (p.Arg414Gln)	SZT2 (R414Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 212362	NM_001365999.1(SZT2):c.1272A>G (p.Gln424=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 588735	NM_001365999.1(SZT2):c.1385C>T (p.Thr462Met)	SZT2 (T462M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2495287	NM_001365999.1(SZT2):c.1583G>A (p.Ser528Asn)	SZT2 (S528N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2490422	NM_001365999.1(SZT2):c.1802G>A (p.Ser601Asn)	SZT2 (S601N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 639086	NM_001365999.1(SZT2):c.1943A>G (p.Asn648Ser)	SZT2 (N648S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 416964	NM_001365999.1(SZT2):c.2025G>A (p.Pro675=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1362702	NM_001365999.1(SZT2):c.2029C>T (p.Arg677Trp)	SZT2 (R677W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 763018	NM_001365999.1(SZT2):c.2038-5C>T	SZT2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 1044257	NM_001365999.1(SZT2):c.2170C>T (p.Pro724Ser)	SZT2 (P724S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1787214	NM_001365999.1(SZT2):c.2178G>A (p.Val726=)	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 1355993	NM_001365999.1(SZT2):c.2207G>A (p.Arg736Gln)	SZT2 (R736Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 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 954470	NM_001365999.1(SZT2):c.2256-4C>G	SZT2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 589997	NM_001365999.1(SZT2):c.2282G>A (p.Arg761Gln)	SZT2 (R761Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492866	NM_001365999.1(SZT2):c.2288C>T (p.Pro763Leu)	SZT2 (P763L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1789424	NM_001365999.1(SZT2):c.2310A>G (p.Pro770=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589909	NM_001365999.1(SZT2):c.2315G>A (p.Gly772Asp)	SZT2 (G772D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527975	NM_001365999.1(SZT2):c.2353A>T (p.Ser785Cys)	SZT2 (S785C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 985900	NM_001365999.1(SZT2):c.2435_2436del (p.Leu812fs)	SZT2 (L812fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1791790	NM_001365999.1(SZT2):c.2472-5T>C	SZT2	Single nucleotide variant (intron variant)	Inborn genetic diseases	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 663354	NM_001365999.1(SZT2):c.2528T>C (p.Met843Thr)	SZT2 (M843T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 588380	NM_001365999.1(SZT2):c.2545A>G (p.Ile849Val)	SZT2 (I849V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 378698	NM_001365999.1(SZT2):c.2550+5G>A	SZT2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign

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