SLC13A5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
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 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
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 3256119	Single allele	SLC13A5	Deletion	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 1230912	NM_177550.5(SLC13A5):c.*31T>C	SLC13A5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1508416	NM_177550.5(SLC13A5):c.1705T>C (p.Ter569Gln)	SLC13A5	Single nucleotide variant (stop lost)	Developmental and epileptic encephalopathy, 25	GUncertain significance
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 660015	NM_177550.5(SLC13A5):c.1696_1697del (p.His565_Ile566insTer)	SLC13A5	Microsatellite (nonsense)	Developmental and epileptic encephalopathy, 25 +1 more	GUncertain significance
Select item 1014097	NM_177550.5(SLC13A5):c.1691C>T (p.Thr564Ile)	SLC13A5 (T518I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1584665	NM_177550.5(SLC13A5):c.1689G>A (p.Val563=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 842888	NM_177550.5(SLC13A5):c.1687G>A (p.Val563Met)	SLC13A5 (V517M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2647314	NM_177550.5(SLC13A5):c.1686T>C (p.Asn562=)	SLC13A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 580380	NM_177550.5(SLC13A5):c.1673C>T (p.Pro558Leu)	SLC13A5 (P558L +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1030354	NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile)	SLC13A5 (F535I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	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 951028	NM_177550.5(SLC13A5):c.1645C>T (p.Arg549Trp)	SLC13A5 (R532W +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2156028	NM_177550.5(SLC13A5):c.1643G>A (p.Gly548Glu)	SLC13A5 (G531E +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	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 759376	NM_177550.5(SLC13A5):c.1632C>T (p.Val544=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
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 541967	NM_177550.5(SLC13A5):c.1628C>A (p.Ala543Asp)	SLC13A5 (A543D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
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 2840820	NM_177550.5(SLC13A5):c.1624T>C (p.Leu542=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2111118	NM_177550.5(SLC13A5):c.1622T>G (p.Phe541Cys)	SLC13A5 (F495C +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2095478	NM_177550.5(SLC13A5):c.1622T>C (p.Phe541Ser)	SLC13A5 (F495S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 639696	NM_177550.5(SLC13A5):c.1615T>C (p.Cys539Arg)	SLC13A5 (C493R +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1713462	NM_177550.5(SLC13A5):c.1606G>A (p.Gly536Arg)	SLC13A5 (G490R +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2423609	NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met)	SLC13A5 (I488M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 847300	NM_177550.5(SLC13A5):c.1600A>G (p.Ile534Val)	SLC13A5 (I491V +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1045805	NM_177550.5(SLC13A5):c.1599C>A (p.Asn533Lys)	SLC13A5 (N490K +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1425012	NM_177550.5(SLC13A5):c.1591A>G (p.Ile531Val)	SLC13A5 (I488V +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2106092	NM_177550.5(SLC13A5):c.1585G>A (p.Gly529Arg)	SLC13A5 (G486R +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 25	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 1775590	NM_177550.5(SLC13A5):c.1576-4C>G	SLC13A5	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 391183	NM_177550.5(SLC13A5):c.1576-13G>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25 +1 more	GLikely benign
Select item 1663000	NM_177550.5(SLC13A5):c.1576-20T>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	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 1602533	NM_177550.5(SLC13A5):c.1575+12G>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 763010	NM_177550.5(SLC13A5):c.1575+10C>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 2111104	NM_177550.5(SLC13A5):c.1575+8A>G	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 662875	NM_177550.5(SLC13A5):c.1575+5C>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1918979	NM_177550.5(SLC13A5):c.1575+4A>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2091089	NM_177550.5(SLC13A5):c.1573A>C (p.Met525Leu)	SLC13A5 (M525L +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 218174	NM_177550.5(SLC13A5):c.1570G>C (p.Asp524His)	SLC13A5 (D524H +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 2546282	NM_177550.5(SLC13A5):c.1564G>T (p.Val522Phe)	SLC13A5 (V479F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 834467	NM_177550.5(SLC13A5):c.1564G>A (p.Val522Ile)	SLC13A5 (V479I +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 739333	NM_177550.5(SLC13A5):c.1563G>A (p.Lys521=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 1100024	NM_177550.5(SLC13A5):c.1560C>A (p.Leu520=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1355155	NM_177550.5(SLC13A5):c.1558C>T (p.Leu520Phe)	SLC13A5 (L520F +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
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 1449543	NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala)	SLC13A5 (V471A +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1038094	NM_177550.5(SLC13A5):c.1540G>A (p.Val514Met)	SLC13A5 (V471M +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1571391	NM_177550.5(SLC13A5):c.1536C>T (p.Ala512=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 1142284	NM_177550.5(SLC13A5):c.1530A>G (p.Pro510=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 1148156	NM_177550.5(SLC13A5):c.1524C>T (p.Thr508=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 1716433	NM_177550.5(SLC13A5):c.1519G>T (p.Ala507Ser)	SLC13A5 (A464S +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 842942	NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu)	SLC13A5 (P488L +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GConflicting classifications of pathogenicity
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 1082707	NM_177550.5(SLC13A5):c.1510T>C (p.Leu504=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 638888	NM_177550.5(SLC13A5):c.1508T>C (p.Met503Thr)	SLC13A5 (M486T +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 750013	NM_177550.5(SLC13A5):c.1497C>A (p.Ser499=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 1125442	NM_177550.5(SLC13A5):c.1494C>T (p.Ala498=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 664190	NM_177550.5(SLC13A5):c.1483_1491del (p.Thr495_Ser497del)	SLC13A5	Deletion (inframe_deletion +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 589984	NM_177550.5(SLC13A5):c.1485C>G (p.Thr495=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
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	GUncertain significance
Select item 1402016	NM_177550.5(SLC13A5):c.1475del (p.Leu492fs)	SLC13A5 (L475fs +2 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 25	GPathogenic
Select item 375390	NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro)	SLC13A5 (L492P +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely pathogenic
Select item 2105056	NM_177550.5(SLC13A5):c.1471A>C (p.Met491Leu)	SLC13A5 (M448L +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	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 140754	NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro)	SLC13A5 (L471P +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely pathogenic
Select item 1002069	NM_177550.5(SLC13A5):c.1462C>A (p.Leu488Met)	SLC13A5 (L445M +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 383584	NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	not provided +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 2129251	NM_177550.5(SLC13A5):c.1457A>G (p.Asn486Ser)	SLC13A5 (N486S +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1773035	NM_177550.5(SLC13A5):c.1455C>T (p.Leu485=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1491191	NM_177550.5(SLC13A5):c.1454T>G (p.Leu485Arg)	SLC13A5 (L442R +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1433548	NM_177550.5(SLC13A5):c.1454T>C (p.Leu485Pro)	SLC13A5 (L442P +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 812783	NM_177550.5(SLC13A5):c.1451del (p.Gly484fs)	SLC13A5 (G467fs +2 more)	Deletion (frameshift variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 475195	NM_177550.5(SLC13A5):c.1450G>A (p.Gly484Ser)	SLC13A5 (G484S +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1141238	NM_177550.5(SLC13A5):c.1449C>T (p.Ile483=)	SLC13A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 475194	NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val)	SLC13A5 (I483V +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 958142	NM_177550.5(SLC13A5):c.1445C>T (p.Ser482Phe)	SLC13A5 (S439F +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1054414	NM_177550.5(SLC13A5):c.1442G>A (p.Arg481His)	SLC13A5 (R438H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 659306	NM_177550.5(SLC13A5):c.1441C>T (p.Arg481Cys)	SLC13A5 (R438C +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1372187	NM_177550.5(SLC13A5):c.1438T>C (p.Ser480Pro)	SLC13A5 (S463P +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2106225	NM_177550.5(SLC13A5):c.1438-2A>G	SLC13A5	Single nucleotide variant (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 25	GLikely pathogenic
Select item 2064856	NM_177550.5(SLC13A5):c.1438-3C>A	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2016284	NM_177550.5(SLC13A5):c.1438-4G>T	SLC13A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 25	GUncertain significance

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