"GeneDx"[submitter] AND "ALG13"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 1239678	NC_000023.11:g.111680918del	ALG13	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 387669	NM_001099922.3(ALG13):c.-27G>A	ALG13	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 507735	NM_001099922.3(ALG13):c.-14G>A	ALG13	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 387664	NM_001099922.3(ALG13):c.-9A>G	ALG13	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 385984	NM_001099922.3(ALG13):c.-7C>T	ALG13	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 516978	NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu)	ALG13 (F5L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 517036	NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu)	ALG13 (D14E)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 36 +2 more	GBenign/Likely benign
Select item 510803	NM_001099922.3(ALG13):c.54G>A (p.Ala18=)	ALG13	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 386700	NM_001099922.3(ALG13):c.59T>C (p.Val20Ala)	ALG13 (V20A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1419388	NM_001099922.3(ALG13):c.64G>A (p.Ala22Thr)	ALG13 (A22T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 386579	NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn)	ALG13 (S25N)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 508434	NM_001099922.3(ALG13):c.81+108C>T	ALG13	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1223036	NM_001099922.3(ALG13):c.82-150_82-149insCTTTA	ALG13	Insertion (intron variant)	not provided	GBenign
Select item 2884182	NM_001099922.3(ALG13):c.92G>A (p.Ser31Asn)	ALG13 (S31N)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 510586	NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser)	ALG13 (N35S)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 509168	NM_001099922.3(ALG13):c.108A>G (p.Arg36=)	ALG13	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1306007	NM_001099922.3(ALG13):c.124G>A (p.Gly42Ser)	ALG13 (G42S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 383976	NM_001099922.3(ALG13):c.150C>T (p.Pro50=)	ALG13	Single nucleotide variant (synonymous variant +3 more)	Developmental and epileptic encephalopathy, 36 +1 more	GBenign/Likely benign
Select item 238290	NM_001099922.3(ALG13):c.183C>T (p.Tyr61=)	ALG13 (T3I)	Single nucleotide variant (synonymous variant +4 more)	Inborn genetic diseases +3 more	GBenign
Select item 423341	NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr)	ALG13 (A81T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 508869	NM_001099922.3(ALG13):c.244+5_244+6insC	ALG13 (G84fs)	Insertion (frameshift variant +1 more)	not specified	GLikely benign
Select item 513939	NM_001099922.3(ALG13):c.244+7G>T	ALG13	Single nucleotide variant (intron variant +1 more)	not specified	GLikely benign
Select item 1152251	NM_001099922.3(ALG13):c.246T>G (p.Gly82=)	ALG13 (C63G)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 385875	NM_001099922.3(ALG13):c.273A>G (p.Glu91=)	ALG13 (K72E)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GLikely benign
Select item 1303764	NM_001099922.3(ALG13):c.284C>T (p.Pro95Leu)	ALG13 (P17L +2 more)	Single nucleotide variant (synonymous variant +3 more)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 1167759	NM_001099922.3(ALG13):c.288C>T (p.Leu96=)	ALG13 (R77C)	Single nucleotide variant (missense variant +3 more)	Developmental and epileptic encephalopathy, 36 +1 more	GBenign/Likely benign
Select item 509860	NM_001099922.3(ALG13):c.303C>T (p.Asn101=)	ALG13 (R82*)	Single nucleotide variant (nonsense +3 more)	not specified +1 more	GLikely benign
Select item 3340788	NM_001099922.3(ALG13):c.304G>A (p.Glu102Lys)	ALG13 (E102K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2430576	NM_001099922.3(ALG13):c.305A>T (p.Glu102Val)	ALG13 (E102V +2 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 66086	NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)	ALG13 (N107S +3 more)	Single nucleotide variant (missense variant +2 more)	Seizure +4 more	GPathogenic
Select item 1307075	NM_001099922.3(ALG13):c.321T>G (p.Asn107Lys)	ALG13 (N107K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 383826	NM_001099922.3(ALG13):c.337G>A (p.Ala113Thr)	ALG13 (A113T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 473116	NM_001099922.3(ALG13):c.350A>T (p.His117Leu)	ALG13 (H117L +3 more)	Single nucleotide variant (synonymous variant +2 more)	Developmental and epileptic encephalopathy, 36 +2 more	GUncertain significance
Select item 385206	NM_001099922.3(ALG13):c.355G>C (p.Glu119Gln)	ALG13 (E119Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 391302	NM_001099922.3(ALG13):c.360T>C (p.Gly120=)	ALG13 (S101P)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 36 +1 more	GBenign/Likely benign
Select item 473117	NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys)	ALG13 (Y20C +3 more)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1259408	NM_001099922.3(ALG13):c.383+239dup	ALG13	Duplication (intron variant)	not provided	GBenign
Select item 1292872	NM_001099922.3(ALG13):c.383+831G>A	ALG13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382136	NM_001099922.3(ALG13):c.383+1029A>G	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 385290	NM_001099922.3(ALG13):c.383+1033G>A	ALG13	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GLikely benign
Select item 1178808	NM_001099922.3(ALG13):c.383+1129G>A	ALG13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194926	NM_001099922.3(ALG13):c.383+2509T>C	ALG13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1711937	NM_001099922.3(ALG13):c.383+2794G>A	ALG13 (G132R +4 more)	Single nucleotide variant (nonsense +4 more)	not provided	GUncertain significance
Select item 1248507	NM_001099922.3(ALG13):c.384-213C>T	ALG13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 412616	NM_001099922.3(ALG13):c.384-5C>T	ALG13	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1313015	NM_001099922.3(ALG13):c.384G>A (p.Arg128=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 388212	NM_001099922.3(ALG13):c.419C>T (p.Ala140Val)	ALG13 (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GConflicting classifications of pathogenicity
Select item 515513	NM_001099922.3(ALG13):c.426T>C (p.Ala142=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36 +2 more	GLikely benign
Select item 3359814	NM_001099922.3(ALG13):c.430G>C (p.Gly144Arg)	ALG13 (G144R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313388	NM_001099922.3(ALG13):c.440A>G (p.Gln147Arg)	ALG13 (Q147R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1698033	NM_001099922.3(ALG13):c.473C>G (p.Ser158Ter)	ALG13 (S158* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 385135	NM_001099922.3(ALG13):c.486T>C (p.Phe162=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36 +2 more	GBenign/Likely benign
Select item 1023570	NM_001099922.3(ALG13):c.518C>T (p.Ala173Val)	ALG13 (A173V +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 1045540	NM_001099922.3(ALG13):c.568C>T (p.His190Tyr)	ALG13 (H190Y +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 1710754	NM_001099922.3(ALG13):c.586C>T (p.Pro196Ser)	ALG13 (P118S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 388195	NM_001099922.3(ALG13):c.588T>G (p.Pro196=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 432029	NM_001099922.3(ALG13):c.632A>G (p.Tyr211Cys)	ALG13 (Y211C +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GConflicting classifications of pathogenicity
Select item 381446	NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn)	ALG13 (S213N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 451123	NM_001099922.3(ALG13):c.653A>G (p.Asn218Ser)	ALG13 (N218S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 682376	NM_001099922.3(ALG13):c.744G>A (p.Ser248=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 412615	NM_001099922.3(ALG13):c.751-8_751-6del	ALG13	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 36 +2 more	GBenign/Likely benign
Select item 574279	NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu)	ALG13 (F148L +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +2 more	GConflicting classifications of pathogenicity
Select item 1045671	NM_001099922.3(ALG13):c.834+3A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 1298133	NM_001099922.3(ALG13):c.834+194A>G	ALG13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672691	NM_001099922.3(ALG13):c.835-264T>G	ALG13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211253	NM_001099922.3(ALG13):c.835-217A>G	ALG13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261410	NM_001099922.3(ALG13):c.835-22T>C	ALG13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3012363	NM_001099922.3(ALG13):c.852T>G (p.Phe284Leu)	ALG13 (F206L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 3252961	NM_001099922.3(ALG13):c.856A>G (p.Lys286Glu)	ALG13 (K182E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191964	NM_001099922.3(ALG13):c.886-303C>G	ALG13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510666	NM_001099922.3(ALG13):c.886-19A>G	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 388267	NM_001099922.3(ALG13):c.886-17A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36 +1 more	GLikely benign
Select item 388325	NM_001099922.3(ALG13):c.886-16C>A	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36 +1 more	GBenign/Likely benign
Select item 644608	NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys)	ALG13 (S297C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3359605	NM_001099922.3(ALG13):c.896G>A (p.Gly299Asp)	ALG13 (G195D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577726	NM_001099922.3(ALG13):c.931A>G (p.Asn311Asp)	ALG13 (N207D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305041	NM_001099922.3(ALG13):c.932+2T>C	ALG13	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 644727	NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly)	ALG13 (R318G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2136268	NM_001099922.3(ALG13):c.968C>T (p.Pro323Leu)	ALG13 (P323L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308214	NM_001099922.3(ALG13):c.979G>A (p.Val327Ile)	ALG13 (V223I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662429	NM_001099922.3(ALG13):c.989A>G (p.Asn330Ser)	ALG13 (N226S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298053	NM_001099922.3(ALG13):c.1006-97A>G	ALG13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384889	NM_001099922.3(ALG13):c.1006-14G>A	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2834007	NM_001099922.3(ALG13):c.1006A>G (p.Ile336Val)	ALG13 (I232V +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 2505967	NM_001099922.3(ALG13):c.1031G>A (p.Gly344Asp)	ALG13 (G240D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305416	NM_001099922.3(ALG13):c.1058A>G (p.Gln353Arg)	ALG13 (Q249R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 390653	NM_001099922.3(ALG13):c.1087+18A>G	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1214904	NM_001099922.3(ALG13):c.1088-55A>G	ALG13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382137	NM_001099922.3(ALG13):c.1152G>A (p.Ala384=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3365093	NM_001099922.3(ALG13):c.1155T>G (p.Ile385Met)	ALG13 (I281M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 386580	NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val)	ALG13 (A406V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1180018	NM_001099922.3(ALG13):c.1250+111C>T	ALG13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 238289	NM_001099922.3(ALG13):c.1266T>C (p.Gly422=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 514851	NM_001099922.3(ALG13):c.1277A>G (p.Asn426Ser)	ALG13 (N426S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 432398	NM_001099922.3(ALG13):c.1290A>G (p.Ile430Met)	ALG13 (I430M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 380439	NM_001099922.3(ALG13):c.1293A>G (p.Pro431=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 373473	NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser)	ALG13 (N435S +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GConflicting classifications of pathogenicity
Select item 680364	NM_001099922.3(ALG13):c.1308A>G (p.Lys436=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GLikely benign

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