"GeneDx"[submitter] AND "SLC13A5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 1291908	NM_177550.5(SLC13A5):c.*315G>A	SLC13A5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1183752	NM_177550.5(SLC13A5):c.*176T>A	SLC13A5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1230912	NM_177550.5(SLC13A5):c.*31T>C	SLC13A5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 423929	NM_177550.5(SLC13A5):c.1701G>C (p.Glu567Asp)	SLC13A5 (E567D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 946341	NM_177550.5(SLC13A5):c.1646G>A (p.Arg549Gln)	SLC13A5 (R503Q +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25 +1 more	GUncertain significance
Select item 2444707	NM_177550.5(SLC13A5):c.1635C>G (p.Asn545Lys)	SLC13A5 (N499K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384138	NM_177550.5(SLC13A5):c.1629T>C (p.Ala543=)	SLC13A5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1305840	NM_177550.5(SLC13A5):c.1627G>T (p.Ala543Ser)	SLC13A5 (A497S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423609	NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met)	SLC13A5 (I488M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 384178	NM_177550.5(SLC13A5):c.1584A>G (p.Thr528=)	SLC13A5	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 452183	NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala)	SLC13A5 (T528A +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 391183	NM_177550.5(SLC13A5):c.1576-13G>A	SLC13A5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 670105	NM_177550.5(SLC13A5):c.1576-226A>G	SLC13A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223756	NM_177550.5(SLC13A5):c.1575+40C>T	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670104	NM_177550.5(SLC13A5):c.1575+28G>A	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311757	NM_177550.5(SLC13A5):c.1558C>G (p.Leu520Val)	SLC13A5 (L477V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 449231	NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)	SLC13A5 (L461fs +2 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 25 +2 more	GConflicting classifications of pathogenicity
Select item 2765976	NM_177550.5(SLC13A5):c.1484C>T (p.Thr495Ile)	SLC13A5 (T478I +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25 +1 more	GUncertain significance
Select item 1302322	NM_177550.5(SLC13A5):c.1468A>G (p.Ile490Val)	SLC13A5 (I447V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 383584	NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 933613	NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu)	SLC13A5 (P444L +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25 +1 more	GUncertain significance
Select item 390295	NM_177550.5(SLC13A5):c.1438-4G>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 677509	NM_177550.5(SLC13A5):c.1438-56G>A	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673998	NM_177550.5(SLC13A5):c.1438-82A>G	SLC13A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259513	NM_177550.5(SLC13A5):c.1438-113T>A	SLC13A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 670102	NM_177550.5(SLC13A5):c.1438-164G>A	SLC13A5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1199090	NM_177550.5(SLC13A5):c.1437+280C>T	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233065	NM_177550.5(SLC13A5):c.1437+176A>G	SLC13A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670103	NM_177550.5(SLC13A5):c.1437+84G>A	SLC13A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509975	NM_177550.5(SLC13A5):c.1437+15del	SLC13A5	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 384844	NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=)	SLC13A5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 380207	NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met)	SLC13A5 (V458M +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25 +2 more	GConflicting classifications of pathogenicity
Select item 475193	NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile)	SLC13A5 (V456I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 383133	NM_177550.5(SLC13A5):c.1365C>T (p.Leu455=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 1003998	NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr)	SLC13A5 (P402T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25 +1 more	GUncertain significance
Select item 373627	NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser)	SLC13A5 (P444S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 513770	NM_177550.5(SLC13A5):c.1323C>T (p.His441=)	SLC13A5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1195595	NM_177550.5(SLC13A5):c.1300G>A (p.Gly434Arg)	SLC13A5 (G391R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25 +1 more	GUncertain significance
Select item 423843	NM_177550.5(SLC13A5):c.1298T>C (p.Met433Thr)	SLC13A5 (M433T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017100	NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu)	SLC13A5 (V388L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25 +1 more	GConflicting classifications of pathogenicity
Select item 383885	NM_177550.5(SLC13A5):c.1290C>T (p.Ser430=)	SLC13A5	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 386959	NM_177550.5(SLC13A5):c.1281G>A (p.Ser427=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 385837	NM_177550.5(SLC13A5):c.1276-19C>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25 +2 more	GLikely benign
Select item 671721	NM_177550.5(SLC13A5):c.1276-63C>T	SLC13A5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1190577	NM_177550.5(SLC13A5):c.1276-151G>A	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668855	NM_177550.5(SLC13A5):c.1276-318G>A	SLC13A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178894	NM_177550.5(SLC13A5):c.1275+232A>G	SLC13A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673997	NM_177550.5(SLC13A5):c.1275+204A>G	SLC13A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677353	NM_177550.5(SLC13A5):c.1275+151A>T	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259810	NM_177550.5(SLC13A5):c.1275+115C>T	SLC13A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715280	NM_177550.5(SLC13A5):c.1230C>T (p.Ile410=)	SLC13A5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 373238	NM_177550.5(SLC13A5):c.1227dup (p.Ile410fs)	SLC13A5 (I393fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 452331	NM_177550.5(SLC13A5):c.1165A>G (p.Thr389Ala)	SLC13A5 (T389A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 860573	NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg)	SLC13A5 (K388R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25 +1 more	GUncertain significance
Select item 793419	NM_177550.5(SLC13A5):c.1157-4C>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 1266627	NM_177550.5(SLC13A5):c.1157-68GT[28]	SLC13A5	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1139624	NM_177550.5(SLC13A5):c.1157-68GT[27]	SLC13A5	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 25 +1 more	GBenign/Likely benign
Select item 1231505	NM_177550.5(SLC13A5):c.1157-68GT[25]	SLC13A5	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 25 +1 more	GBenign
Select item 1228363	NM_177550.5(SLC13A5):c.1157-68GT[22]	SLC13A5	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 25 +1 more	GBenign
Select item 1168032	NM_177550.5(SLC13A5):c.1157-68GT[21]	SLC13A5	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 678184	NM_177550.5(SLC13A5):c.1157-153T>G	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677610	NM_177550.5(SLC13A5):c.1157-179A>T	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672969	NM_177550.5(SLC13A5):c.1157-204T>C	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670101	NM_177550.5(SLC13A5):c.1156+170T>C	SLC13A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677514	NM_177550.5(SLC13A5):c.1156+34G>A	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383254	NM_177550.5(SLC13A5):c.1156+9C>T	SLC13A5	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1186028	NM_177550.5(SLC13A5):c.1115C>A (p.Ser372Ter)	SLC13A5 (S329* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 380942	NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=)	SLC13A5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 388054	NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=)	SLC13A5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 380900	NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=)	SLC13A5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 541972	NM_177550.5(SLC13A5):c.1077G>A (p.Val359=)	SLC13A5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588924	NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn)	SLC13A5 (D356N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 475190	NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 1202314	NM_177550.5(SLC13A5):c.1056-33T>C	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669407	NM_177550.5(SLC13A5):c.1056-262T>C	SLC13A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215790	NM_177550.5(SLC13A5):c.1056-290C>T	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208629	NM_177550.5(SLC13A5):c.1055+89G>C	SLC13A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517770	NM_177550.5(SLC13A5):c.1055+16A>C	SLC13A5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 383100	NM_177550.5(SLC13A5):c.1055+15C>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25 +2 more	GLikely benign
Select item 423842	NM_177550.5(SLC13A5):c.1042G>A (p.Glu348Lys)	SLC13A5 (E348K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475188	NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu)	SLC13A5 (W346L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25 +2 more	GConflicting classifications of pathogenicity
Select item 218171	NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter)	SLC13A5 (W341* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 25 +1 more	GPathogenic/Likely pathogenic
Select item 390671	NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=)	SLC13A5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 385284	NM_177550.5(SLC13A5):c.1005C>A (p.Pro335=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 380899	NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=)	SLC13A5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 515574	NM_177550.5(SLC13A5):c.1002C>T (p.Asp334=)	SLC13A5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 450174	NM_177550.5(SLC13A5):c.998G>A (p.Arg333Gln)	SLC13A5 (R333Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25 +1 more	GUncertain significance
Select item 280534	NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)	SLC13A5 (R333* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 25 +2 more	GPathogenic/Likely pathogenic
Select item 429897	NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile)	SLC13A5 (F331I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 960537	NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu)	SLC13A5 (F324L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25 +1 more	GUncertain significance
Select item 426937	NM_177550.5(SLC13A5):c.965G>A (p.Cys322Tyr)	SLC13A5 (C322Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387801	NM_177550.5(SLC13A5):c.945G>A (p.Ala315=)	SLC13A5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1135044	NM_177550.5(SLC13A5):c.942C>T (p.Phe314=)	SLC13A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 511849	NM_177550.5(SLC13A5):c.927G>A (p.Leu309=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 1253812	NM_177550.5(SLC13A5):c.919C>G (p.Arg307Gly)	SLC13A5 (R264G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 393192	NM_177550.5(SLC13A5):c.889G>A (p.Ala297Thr)	SLC13A5 (A297T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1148525	NM_177550.5(SLC13A5):c.882C>T (p.Asn294=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 541966	NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu)	SLC13A5 (K293E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 651382	NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg)	SLC13A5 (G271R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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