C4317295[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 49

	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 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 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 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 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 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 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 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 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 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 384889	NM_001099922.3(ALG13):c.1006-14G>A	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely 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 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 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 385246	NM_001099922.3(ALG13):c.1327-19A>G	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 380440	NM_001099922.3(ALG13):c.1435+5A>T	ALG13	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 390884	NM_001099922.3(ALG13):c.1601+11G>A	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 540344	NM_001099922.3(ALG13):c.1641A>G (p.Gln547=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign
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 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 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 379800	NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala)	ALG13 (T756A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 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 412613	NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)	ALG13 (E691del +3 more)	Microsatellite (inframe_deletion +1 more)	Developmental and epileptic encephalopathy, 36 +2 more	GBenign/Likely benign
Select item 382105	NM_001099922.3(ALG13):c.2401+12C>A	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 412610	NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro)	ALG13 (A873P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
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 238293	NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe)	ALG13 (S891F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 651903	NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup)	ALG13	Microsatellite (intron variant +1 more)	Developmental and epileptic encephalopathy, 36	GBenign/Likely benign
Select item 1168196	NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup)	ALG13	Microsatellite (inframe_insertion +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GBenign
Select item 516988	NM_001099922.3(ALG13):c.2797CCT[9] (p.Pro942_Pro945del)	ALG13	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 238295	NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del)	ALG13 (P945del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GBenign
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 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 383977	NM_001099922.3(ALG13):c.2933-15G>T	ALG13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 390901	NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys)	ALG13 (Y1003C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	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 412612	NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala)	ALG13 (T1020A +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GBenign
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 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 509287	NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val)	ALG13 (I1120V +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GBenign/Likely 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
Select item 377466	NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr)	ALG13	Single nucleotide variant (stop lost +1 more)	Developmental and epileptic encephalopathy, 36 +2 more	GBenign/Likely benign

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Items: 49