"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ALG13"[gene] - ClinVar

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1639500	NM_001099922.3(ALG13):c.255C>T (p.Ser85=)	ALG13	Single nucleotide variant (synonymous variant +2 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
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 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 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 473118	NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly)	ALG13 (C21G +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 1049721	NM_001099922.3(ALG13):c.383+2885G>A	ALG13 (G162E +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 696362	NM_001099922.3(ALG13):c.417T>C (p.Ile139=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GLikely benign
Select item 540343	NM_001099922.3(ALG13):c.456G>A (p.Leu152=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 954415	NM_001099922.3(ALG13):c.461del (p.Thr153_Ser154insTer)	ALG13	Deletion (nonsense +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 1152521	NM_001099922.3(ALG13):c.541A>G (p.Thr181Ala)	ALG13 (T103A +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 1443614	NM_001099922.3(ALG13):c.571G>A (p.Ala191Thr)	ALG13 (A87T +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 852062	NM_001099922.3(ALG13):c.621A>T (p.Gly207=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GConflicting classifications of pathogenicity
Select item 283145	NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp)	ALG13 (N218D +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +2 more	GUncertain significance
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 510666	NM_001099922.3(ALG13):c.886-19A>G	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1642192	NM_001099922.3(ALG13):c.886-13T>C	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 1512305	NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn)	ALG13 (S193N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 36	GConflicting classifications of pathogenicity
Select item 649577	NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys)	ALG13 (R214C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1443154	NM_001099922.3(ALG13):c.958C>G (p.Pro320Ala)	ALG13 (P216A +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 588485	NM_001099922.3(ALG13):c.975T>G (p.Thr325=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1002211	NM_001099922.3(ALG13):c.1005+4A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GConflicting classifications of pathogenicity
Select item 1057211	NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln)	ALG13 (L233Q +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GConflicting classifications of pathogenicity
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 385246	NM_001099922.3(ALG13):c.1327-19A>G	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1632640	NM_001099922.3(ALG13):c.1435+20A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GBenign/Likely benign
Select item 578971	NM_001099922.3(ALG13):c.1476G>C (p.Gln492His)	ALG13 (Q388H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 387963	NM_001099922.3(ALG13):c.1591T>C (p.Leu531=)	ALG13	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 36 +2 more	GBenign/Likely benign
Select item 509918	NM_001099922.3(ALG13):c.1729+14A>G	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 387670	NM_001099922.3(ALG13):c.1843C>T (p.Leu615=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GBenign/Likely benign
Select item 573058	NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr)	ALG13 (S618T +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 383125	NM_001099922.3(ALG13):c.1922A>G (p.His641Arg)	ALG13 (H641R +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GLikely benign
Select item 1009892	NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys)	ALG13 (G490C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446818	NM_001099922.3(ALG13):c.2013G>A (p.Pro671=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 936461	NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys)	ALG13	Deletion (inframe_indel +1 more)	not provided +1 more	GUncertain significance
Select item 208675	NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg)	ALG13 (S702R +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 510587	NM_001099922.3(ALG13):c.2248-15G>C	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 380781	NM_001099922.3(ALG13):c.2248-4A>G	ALG13	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 710581	NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser)	ALG13 (A598S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1015214	NM_001099922.3(ALG13):c.2312A>G (p.His771Arg)	ALG13 (H609R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1057351	NM_001099922.3(ALG13):c.2328G>C (p.Gln776His)	ALG13 (Q614H +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 1546873	NM_001099922.3(ALG13):c.2369-19T>C	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GBenign/Likely benign
Select item 508546	NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu)	ALG13 (G790E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1491061	NM_001099922.3(ALG13):c.2392T>C (p.Tyr798His)	ALG13 (Y798H +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 946220	NM_001099922.3(ALG13):c.2437A>G (p.Thr813Ala)	ALG13 (T813A +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 422878	NM_001099922.3(ALG13):c.2457+15_2457+17del	ALG13	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 633581	NM_001099922.3(ALG13):c.2458-1G>A	ALG13	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 949852	NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro)	ALG13 (S703P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 450368	NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr)	ALG13 (S880Y +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 384527	NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr)	ALG13 (I885T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1165901	NM_001099922.3(ALG13):c.2685C>T (p.His895=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 540336	NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser)	ALG13 (G792S +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 648599	NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup)	ALG13	Microsatellite (inframe_insertion +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GLikely benign
Select item 1311051	NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu)	ALG13 (P845L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 517044	NM_001099922.3(ALG13):c.2787A>G (p.Pro929=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 660255	NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del)	ALG13	Deletion (inframe_deletion +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 649724	NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup)	ALG13	Microsatellite (inframe_insertion +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 516407	NM_001099922.3(ALG13):c.2796A>T (p.Pro932=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 833675	NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del)	ALG13	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GLikely benign
Select item 412611	NM_001099922.3(ALG13):c.2799T>A (p.Pro933=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36 +2 more	GBenign/Likely benign
Select item 966978	NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala)	ALG13 (P865A +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 862605	NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup)	ALG13	Microsatellite (inframe_insertion +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GConflicting classifications of pathogenicity
Select item 1367202	NM_001099922.3(ALG13):c.2874_2888del (p.Leu961_Pro965del)	ALG13	Deletion (inframe_deletion +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 386183	NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1635075	NM_001099922.3(ALG13):c.2913C>T (p.Ser971=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 383977	NM_001099922.3(ALG13):c.2933-15G>T	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1599886	NM_001099922.3(ALG13):c.2933-14A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GBenign/Likely benign
Select item 383513	NM_001099922.3(ALG13):c.3039A>G (p.Val1013=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 386253	NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 423965	NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr)	ALG13 (A1044T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 696147	NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GBenign/Likely benign
Select item 1138102	NM_001099922.3(ALG13):c.3174A>G (p.Ser1058=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 381527	NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys)	ALG13 (Y1074C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 473115	NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36 +2 more	GLikely benign
Select item 431802	NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His)	ALG13 (D1091H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 540340	NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser)	ALG13 (P1127S +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GLikely benign
Select item 512702	NM_001099922.3(ALG13):c.3399A>G (p.Val1133=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GBenign/Likely benign

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Items: 79