| NM_177550.5(SLC13A5):c.919C>G (p.Arg307Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001873826]|not provided [RCV001664955] |
Chr17:6695862 [GRCh38]
Chr17:6599181 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000544175]|Inborn genetic diseases [RCV002315020]|not provided [RCV001584339] |
Chr17:6695744 [GRCh38]
Chr17:6599063 [GRCh37]
Chr17:17p13.1 |
benign|likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000524903]|Inborn genetic diseases [RCV002384247]|not provided [RCV001311104] |
Chr17:6690850 [GRCh38]
Chr17:6594169 [GRCh37]
Chr17:17p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.1291G>A (p.Val431Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000551020]|Inborn genetic diseases [RCV002384246] |
Chr17:6690925 [GRCh38]
Chr17:6594244 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.4G>A (p.Ala2Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000545598]|Inborn genetic diseases [RCV002341456] |
Chr17:6713330 [GRCh38]
Chr17:6616649 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.944C>A (p.Ala315Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000542738] |
Chr17:6695837 [GRCh38]
Chr17:6599156 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.998G>A (p.Arg333Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002060270]|not provided [RCV000520045] |
Chr17:6695783 [GRCh38]
Chr17:6599102 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1056-4C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000558839] |
Chr17:6694201 [GRCh38]
Chr17:6597520 [GRCh37]
Chr17:17p13.1 |
likely benign |
| GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 |
copy number loss |
See cases [RCV000051043] |
Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1 |
pathogenic |
| GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 |
copy number loss |
See cases [RCV000053406] |
Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1 |
pathogenic |
| GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] |
Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1 |
pathogenic |
| NM_001143838.2(SLC13A5):c.510G>A (p.Leu170=) |
single nucleotide variant |
Malignant melanoma [RCV000071642] |
Chr17:6703915 [GRCh38]
Chr17:6607234 [GRCh37]
Chr17:6547958 [NCBI36]
Chr17:17p13.1 |
not provided |
| NM_001143838.2(SLC13A5):c.369-61C>T |
single nucleotide variant |
Malignant melanoma [RCV000071643] |
Chr17:6704117 [GRCh38]
Chr17:6607436 [GRCh37]
Chr17:6548160 [NCBI36]
Chr17:17p13.1 |
not provided |
| NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001331883] |
Chr17:6686260 [GRCh38]
Chr17:6589579 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001331884] |
Chr17:6706698 [GRCh38]
Chr17:6610017 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000128860]|Inborn genetic diseases [RCV002362772]|not provided [RCV001311105] |
Chr17:6703031 [GRCh38]
Chr17:6606350 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic |
| NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000128861]|Undetermined early-onset epileptic encephalopathy [RCV000826127]|not provided [RCV001701766] |
Chr17:6703006 [GRCh38]
Chr17:6606325 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000128862] |
Chr17:6687641 [GRCh38]
Chr17:6590960 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 |
copy number loss |
See cases [RCV000134135] |
Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1 |
pathogenic |
| GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 |
copy number gain |
See cases [RCV000134970] |
Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1 |
pathogenic |
| GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 |
copy number gain |
See cases [RCV000134851] |
Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12 |
pathogenic |
| NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407fs) |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV000202392] |
Chr17:6693101..6693102 [GRCh38]
Chr17:6596420..6596421 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1570G>C (p.Asp524His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000202401] |
Chr17:6687534 [GRCh38]
Chr17:6590853 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000202397]|not provided [RCV003226911] |
Chr17:6704000 [GRCh38]
Chr17:6607319 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 |
copy number loss |
See cases [RCV000138214] |
Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1 |
pathogenic |
| GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 |
copy number gain |
See cases [RCV000138220] |
Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1 |
likely pathogenic |
| GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 |
copy number gain |
See cases [RCV000138531] |
Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12 |
pathogenic |
| GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 |
copy number gain |
See cases [RCV000142236] |
Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12 |
pathogenic |
| NM_177550.5(SLC13A5):c.231+2T>G |
single nucleotide variant |
Global developmental delay [RCV000162134] |
Chr17:6707026 [GRCh38]
Chr17:6610345 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000202396]|SLC13A5-related disorder [RCV003955216] |
Chr17:6690936 [GRCh38]
Chr17:6594255 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic |
| NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000202400]|not provided [RCV001549634] |
Chr17:6695759 [GRCh38]
Chr17:6599078 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic |
| NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000416469]|Inborn genetic diseases [RCV002313992]|not provided [RCV000368574] |
Chr17:6695784 [GRCh38]
Chr17:6599103 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic |
| NM_177550.5(SLC13A5):c.1450G>A (p.Gly484Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000555123] |
Chr17:6687654 [GRCh38]
Chr17:6590973 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1437+15del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV002063326]|not specified [RCV000600324] |
Chr17:6690764 [GRCh38]
Chr17:6594083 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1165A>G (p.Thr389Ala) |
single nucleotide variant |
not provided [RCV000519114] |
Chr17:6693154 [GRCh38]
Chr17:6596473 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000560610]|not provided [RCV000522083] |
Chr17:6703012 [GRCh38]
Chr17:6606331 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.965G>A (p.Cys322Tyr) |
single nucleotide variant |
not provided [RCV000489220] |
Chr17:6695816 [GRCh38]
Chr17:6599135 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.533_538dup (p.Ala178_Lys179dup) |
duplication |
not provided [RCV000489414] |
Chr17:6703886..6703887 [GRCh38]
Chr17:6607205..6607206 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.716+198C>A |
single nucleotide variant |
not provided [RCV001548108] |
Chr17:6702772 [GRCh38]
Chr17:6606091 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000533422]|Inborn genetic diseases [RCV002527639]|not provided [RCV000521158] |
Chr17:6686332 [GRCh38]
Chr17:6589651 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.338C>T (p.Thr113Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000687384]|Inborn genetic diseases [RCV002528257]|not provided [RCV000521962] |
Chr17:6706672 [GRCh38]
Chr17:6609991 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.103-15G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002062835]|not specified [RCV000600883] |
Chr17:6707171 [GRCh38]
Chr17:6610490 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.285CGTGGC[3] (p.97AV[3]) |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV000985055]|not provided [RCV000599135] |
Chr17:6706713..6706714 [GRCh38]
Chr17:6610032..6610033 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1227dup (p.Ile410fs) |
duplication |
not provided [RCV000414557] |
Chr17:6693091..6693092 [GRCh38]
Chr17:6596410..6596411 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.642C>T (p.Tyr214=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000534018]|not provided [RCV001584340] |
Chr17:6703044 [GRCh38]
Chr17:6606363 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.285C>T (p.Ile95=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000531640]|Inborn genetic diseases [RCV002438483]|not provided [RCV001722517] |
Chr17:6706725 [GRCh38]
Chr17:6610044 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000537072]|not specified [RCV000604759] |
Chr17:6694188 [GRCh38]
Chr17:6597507 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.511del (p.Glu171fs) |
deletion |
not provided [RCV000413222] |
Chr17:6703914 [GRCh38]
Chr17:6607233 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000525102] |
Chr17:6687657 [GRCh38]
Chr17:6590976 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.716+5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001764344]|not provided [RCV000413948] |
Chr17:6702965 [GRCh38]
Chr17:6606284 [GRCh37]
Chr17:17p13.1 |
likely pathogenic|uncertain significance |
| NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001067612]|Inborn genetic diseases [RCV002314116]|not specified [RCV000414139] |
Chr17:6690886 [GRCh38]
Chr17:6594205 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| GRCh37/hg19 17p13.2-13.1(chr17:6240267-6748728)x3 |
copy number gain |
See cases [RCV000449261] |
Chr17:6240267..6748728 [GRCh37]
Chr17:17p13.2-13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1365C>T (p.Leu455=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001415350]|not specified [RCV000423661] |
Chr17:6690851 [GRCh38]
Chr17:6594170 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-4G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652329]|not provided [RCV001721409] |
Chr17:6687670 [GRCh38]
Chr17:6590989 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.369-17C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002062613]|not specified [RCV000427312] |
Chr17:6704073 [GRCh38]
Chr17:6607392 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.582G>A (p.Gly194=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652326]|Inborn genetic diseases [RCV002356596]|not provided [RCV001704472] |
Chr17:6703104 [GRCh38]
Chr17:6606423 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.90G>T (p.Leu30=) |
single nucleotide variant |
not specified [RCV000441291] |
Chr17:6713244 [GRCh38]
Chr17:6616563 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000546254]|Inborn genetic diseases [RCV002313057]|not provided [RCV001532298]|not specified [RCV000431192] |
Chr17:6703999 [GRCh38]
Chr17:6607318 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.144C>T (p.Tyr48=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000539957]|Inborn genetic diseases [RCV002393000]|not provided [RCV000434470] |
Chr17:6707115 [GRCh38]
Chr17:6610434 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.663C>T (p.Thr221=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000945522]|Inborn genetic diseases [RCV002365545]|SLC13A5-related disorder [RCV003959970]|not specified [RCV000441663] |
Chr17:6703023 [GRCh38]
Chr17:6606342 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000541177]|Inborn genetic diseases [RCV002379316]|not provided [RCV000417892] |
Chr17:6690844 [GRCh38]
Chr17:6594163 [GRCh37]
Chr17:17p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.232-14G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002059811]|not specified [RCV000417976] |
Chr17:6706792 [GRCh38]
Chr17:6610111 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.369-14C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001512553]|not provided [RCV004710017]|not specified [RCV000431698] |
Chr17:6704070 [GRCh38]
Chr17:6607389 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652333]|Inborn genetic diseases [RCV002318475]|not provided [RCV001704450] |
Chr17:6694158 [GRCh38]
Chr17:6597477 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.681G>A (p.Thr227=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652328]|Inborn genetic diseases [RCV002365539]|SLC13A5-related disorder [RCV004754431]|not provided [RCV001698176] |
Chr17:6703005 [GRCh38]
Chr17:6606324 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.232-15C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002522581]|not specified [RCV000442108] |
Chr17:6706793 [GRCh38]
Chr17:6610112 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.690C>T (p.Asn230=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000549176]|not provided [RCV001698385] |
Chr17:6702996 [GRCh38]
Chr17:6606315 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1005C>A (p.Pro335=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002062762]|not specified [RCV000438639] |
Chr17:6695776 [GRCh38]
Chr17:6599095 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1584A>G (p.Thr528=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652332]|not provided [RCV003884525]|not specified [RCV000428436] |
Chr17:6686330 [GRCh38]
Chr17:6589649 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1576-13G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002060037]|not provided [RCV001698321] |
Chr17:6686351 [GRCh38]
Chr17:6589670 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1156+9C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001084780]|not provided [RCV000536408]|not specified [RCV000428713] |
Chr17:6694088 [GRCh38]
Chr17:6597407 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.801C>T (p.Phe267=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000527839]|Inborn genetic diseases [RCV002311485]|not provided [RCV001703811] |
Chr17:6701042 [GRCh38]
Chr17:6604361 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.504C>T (p.Ala168=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000964768]|Inborn genetic diseases [RCV002339085]|not provided [RCV001698298] |
Chr17:6703921 [GRCh38]
Chr17:6607240 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.18C>T (p.Ser6=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001425186]|Inborn genetic diseases [RCV002318487]|not specified [RCV000443102] |
Chr17:6713316 [GRCh38]
Chr17:6616635 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.459G>A (p.Glu153=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002521646]|not specified [RCV000443183] |
Chr17:6703966 [GRCh38]
Chr17:6607285 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.231+6C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000553213]|SLC13A5-related disorder [RCV004754427]|not provided [RCV000585104]|not specified [RCV001821179] |
Chr17:6707022 [GRCh38]
Chr17:6610341 [GRCh37]
Chr17:17p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.201C>T (p.Phe67=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000543749]|not specified [RCV000429302] |
Chr17:6707058 [GRCh38]
Chr17:6610377 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1281G>A (p.Ser427=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002521830]|not specified [RCV000422418] |
Chr17:6690935 [GRCh38]
Chr17:6594254 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000946290]|not specified [RCV000425886] |
Chr17:6695764 [GRCh38]
Chr17:6599083 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.390C>A (p.Gly130=) |
single nucleotide variant |
not specified [RCV000429484] |
Chr17:6704035 [GRCh38]
Chr17:6607354 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000908870]|SLC13A5-related disorder [RCV004754433]|not specified [RCV000432792] |
Chr17:6707139 [GRCh38]
Chr17:6610458 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.-17A>C |
single nucleotide variant |
not provided [RCV004710002]|not specified [RCV000436475] |
Chr17:6713350 [GRCh38]
Chr17:6616669 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.716+15G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002059006]|not specified [RCV000426081] |
Chr17:6702955 [GRCh38]
Chr17:6606274 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652325]|not provided [RCV001703816] |
Chr17:6687643 [GRCh38]
Chr17:6590962 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.945G>A (p.Ala315=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001865363]|not specified [RCV000440124] |
Chr17:6695836 [GRCh38]
Chr17:6599155 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001516216]|Inborn genetic diseases [RCV002311468]|not provided [RCV000713344]|not specified [RCV000440131] |
Chr17:6695776 [GRCh38]
Chr17:6599095 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001516094]|Inborn genetic diseases [RCV002311469]|not provided [RCV000713345]|not specified [RCV000422913] |
Chr17:6694161 [GRCh38]
Chr17:6597480 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.716+11G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002062373]|not specified [RCV000426430] |
Chr17:6702959 [GRCh38]
Chr17:6606278 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1290C>T (p.Ser430=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000934152]|Inborn genetic diseases [RCV002379333]|SLC13A5-related disorder [RCV003902541]|not specified [RCV000433413] |
Chr17:6690926 [GRCh38]
Chr17:6594245 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1276-19C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002059599]|not provided [RCV004705568]|not specified [RCV000444098] |
Chr17:6690959 [GRCh38]
Chr17:6594278 [GRCh37]
Chr17:17p13.1 |
likely benign |
| GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) |
copy number gain |
See cases [RCV000445679] |
Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.889G>A (p.Ala297Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001861645]|not provided [RCV000436984] |
Chr17:6695892 [GRCh38]
Chr17:6599211 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000556028]|Inborn genetic diseases [RCV002318447]|not specified [RCV000440558] |
Chr17:6690821 [GRCh38]
Chr17:6594140 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.232-11C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002059638]|not provided [RCV001698174] |
Chr17:6706789 [GRCh38]
Chr17:6610108 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.714C>T (p.Asn238=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001088740]|not provided [RCV000766285]|not specified [RCV000444303] |
Chr17:6702972 [GRCh38]
Chr17:6606291 [GRCh37]
Chr17:17p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.717-16C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002058986]|not specified [RCV000434086] |
Chr17:6701142 [GRCh38]
Chr17:6604461 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1055+15C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002521632]|not provided [RCV004705549]|not specified [RCV000441065] |
Chr17:6695711 [GRCh38]
Chr17:6599030 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1629T>C (p.Ala543=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002065078]|not specified [RCV000441070] |
Chr17:6686285 [GRCh38]
Chr17:6589604 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000547403]|Inborn genetic diseases [RCV002311473]|not provided [RCV004703940]|not specified [RCV000444849] |
Chr17:6694152 [GRCh38]
Chr17:6597471 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000416419] |
Chr17:6687629 [GRCh38]
Chr17:6590948 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 17p13.1(chr17:6575869-7002388)x3 |
copy number gain |
See cases [RCV000448314] |
Chr17:6575869..7002388 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.746A>G (p.Asn249Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004023189]|not provided [RCV000479760] |
Chr17:6701097 [GRCh38]
Chr17:6604416 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.716+11_716+21del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV002056764]|not provided [RCV001704613] |
Chr17:6702949..6702959 [GRCh38]
Chr17:6606268..6606278 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.1298T>C (p.Met433Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001302564]|not provided [RCV000480658] |
Chr17:6690918 [GRCh38]
Chr17:6594237 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000810315]|Inborn genetic diseases [RCV002526621]|not provided [RCV000481819] |
Chr17:6704034 [GRCh38]
Chr17:6607353 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.548-2A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001378440]|not provided [RCV000485335] |
Chr17:6703140 [GRCh38]
Chr17:6606459 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.292G>A (p.Val98Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001346849]|not provided [RCV000486832] |
Chr17:6706718 [GRCh38]
Chr17:6610037 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1701G>C (p.Glu567Asp) |
single nucleotide variant |
not provided [RCV000487218] |
Chr17:6686213 [GRCh38]
Chr17:6589532 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1042G>A (p.Glu348Lys) |
single nucleotide variant |
not provided [RCV000487285] |
Chr17:6695739 [GRCh38]
Chr17:6599058 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.502G>A (p.Ala168Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001807262]|Inborn genetic diseases [RCV002318606]|not provided [RCV000497564] |
Chr17:6703923 [GRCh38]
Chr17:6607242 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 |
copy number gain |
See cases [RCV000511786] |
Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12 |
pathogenic |
| NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001219982]|Inborn genetic diseases [RCV003372731]|not provided [RCV000493347] |
Chr17:6695790 [GRCh38]
Chr17:6599109 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.1(chr17:6564810-6660724)x0 |
copy number loss |
See cases [RCV000511131] |
Chr17:6564810..6660724 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.602G>A (p.Arg201Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000560116]|Inborn genetic diseases [RCV002315021] |
Chr17:6703084 [GRCh38]
Chr17:6606403 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.441G>A (p.Met147Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000556517]|Microcephaly [RCV001252851]|not provided [RCV001764623] |
Chr17:6703984 [GRCh38]
Chr17:6607303 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.60C>T (p.Thr20=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000960616]|not provided [RCV001698106] |
Chr17:6713274 [GRCh38]
Chr17:6616593 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1564G>T (p.Val522Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003292650] |
Chr17:6687540 [GRCh38]
Chr17:6590859 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.-5G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001807306]|Inborn genetic diseases [RCV002314170]|SLC13A5-related disorder [RCV003953091]|not specified [RCV000605781] |
Chr17:6713338 [GRCh38]
Chr17:6616657 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1055+16A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002066844]|not specified [RCV000607321] |
Chr17:6695710 [GRCh38]
Chr17:6599029 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV001344418]|Inborn genetic diseases [RCV004669020]|not provided [RCV000524016] |
Chr17:6687593 [GRCh38]
Chr17:6590912 [GRCh37]
Chr17:17p13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.1323C>T (p.His441=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001498361]|not specified [RCV000615232] |
Chr17:6690893 [GRCh38]
Chr17:6594212 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.369-12C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002065382]|not specified [RCV000607021] |
Chr17:6704068 [GRCh38]
Chr17:6607387 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.4(SLC13A5):c.-39C>T |
single nucleotide variant |
not specified [RCV000612782] |
Chr17:6713372 [GRCh38]
Chr17:6616691 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.840-7T>C |
single nucleotide variant |
not specified [RCV000607685] |
Chr17:6695948 [GRCh38]
Chr17:6599267 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1156+1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000526125] |
Chr17:6694096 [GRCh38]
Chr17:6597415 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.1002C>T (p.Asp334=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005091724]|not specified [RCV000611328] |
Chr17:6695779 [GRCh38]
Chr17:6599098 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1336G>C (p.Ala446Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652316] |
Chr17:6690880 [GRCh38]
Chr17:6594199 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1334C>T (p.Pro445Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652317] |
Chr17:6690882 [GRCh38]
Chr17:6594201 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652318]|Inborn genetic diseases [RCV002442354]|not provided [RCV001766416] |
Chr17:6706705 [GRCh38]
Chr17:6610024 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.1309A>T (p.Met437Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652319] |
Chr17:6690907 [GRCh38]
Chr17:6594226 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.689A>G (p.Asn230Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652320] |
Chr17:6702997 [GRCh38]
Chr17:6606316 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652321]|not provided [RCV001569871] |
Chr17:6695904 [GRCh38]
Chr17:6599223 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1628C>A (p.Ala543Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652322] |
Chr17:6686286 [GRCh38]
Chr17:6589605 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.190G>A (p.Val64Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652323] |
Chr17:6707069 [GRCh38]
Chr17:6610388 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652324]|Inborn genetic diseases [RCV002315973] |
Chr17:6706643 [GRCh38]
Chr17:6609962 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.954C>T (p.Asn318=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652327] |
Chr17:6695827 [GRCh38]
Chr17:6599146 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.744G>C (p.Val248=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001489681] |
Chr17:6701099 [GRCh38]
Chr17:6604418 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001079789]|Inborn genetic diseases [RCV002315974]|not provided [RCV000828414] |
Chr17:6694176 [GRCh38]
Chr17:6597495 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.1188G>A (p.Leu396=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000652334] |
Chr17:6693131 [GRCh38]
Chr17:6596450 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.327C>T (p.Ile109=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003586199]|Inborn genetic diseases [RCV002448872]|not provided [RCV001707768] |
Chr17:6706683 [GRCh38]
Chr17:6610002 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.654C>T (p.Ile218=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001471687]|not specified [RCV000614583] |
Chr17:6703032 [GRCh38]
Chr17:6606351 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.498C>T (p.Thr166=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000535265] |
Chr17:6703927 [GRCh38]
Chr17:6607246 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.927G>A (p.Leu309=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000950529]|SLC13A5-related disorder [RCV003905617]|not provided [RCV001718955] |
Chr17:6695854 [GRCh38]
Chr17:6599173 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.-5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001807304]|Inborn genetic diseases [RCV002311955]|not provided [RCV001697403] |
Chr17:6713338 [GRCh38]
Chr17:6616657 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_177550.5(SLC13A5):c.272T>G (p.Leu91Arg) |
single nucleotide variant |
not provided [RCV000513164] |
Chr17:6706738 [GRCh38]
Chr17:6610057 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.402C>T (p.Leu134=) |
single nucleotide variant |
not provided [RCV002473070]|not specified [RCV000606094] |
Chr17:6704023 [GRCh38]
Chr17:6607342 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.357C>T (p.Ala119=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001081268]|Inborn genetic diseases [RCV002458172]|not provided [RCV000658213] |
Chr17:6706653 [GRCh38]
Chr17:6609972 [GRCh37]
Chr17:17p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.485_487dup (p.Thr162dup) |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV001301836]|not provided [RCV000658283] |
Chr17:6703937..6703938 [GRCh38]
Chr17:6607256..6607257 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1141del (p.Ser381fs) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV001861705]|not provided [RCV000658763] |
Chr17:6694112 [GRCh38]
Chr17:6597431 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic |
| NM_177550.5(SLC13A5):c.499G>C (p.Glu167Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001229402] |
Chr17:6703926 [GRCh38]
Chr17:6607245 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 |
copy number gain |
not provided [RCV000683866] |
Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12 |
pathogenic |
| NM_177550.5(SLC13A5):c.1300G>C (p.Gly434Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000701697] |
Chr17:6690916 [GRCh38]
Chr17:6594235 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1240C>G (p.Leu414Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000688641] |
Chr17:6693079 [GRCh38]
Chr17:6596398 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_6328760)_(6616672_?)del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV000708070]|Leber congenital amaurosis 4 [RCV001386952] |
Chr17:6328760..6616672 [GRCh37]
Chr17:17p13.2-13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.445G>A (p.Val149Met) |
single nucleotide variant |
not provided [RCV000713346] |
Chr17:6703980 [GRCh38]
Chr17:6607299 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.920G>A (p.Arg307Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000706296]|Inborn genetic diseases [RCV002534460] |
Chr17:6695861 [GRCh38]
Chr17:6599180 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1673C>T (p.Pro558Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000703898] |
Chr17:6686241 [GRCh38]
Chr17:6589560 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000690168]|Inborn genetic diseases [RCV003163143]|not provided [RCV001785702] |
Chr17:6701091 [GRCh38]
Chr17:6604410 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.944C>T (p.Ala315Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000705090] |
Chr17:6695837 [GRCh38]
Chr17:6599156 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.61C>G (p.Pro21Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000696423] |
Chr17:6713273 [GRCh38]
Chr17:6616592 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001055609]|Inborn genetic diseases [RCV002315417]|not provided [RCV001574300] |
Chr17:6694187 [GRCh38]
Chr17:6597506 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001046009]|Inborn genetic diseases [RCV002318250] |
Chr17:6690796 [GRCh38]
Chr17:6594115 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.741C>T (p.Leu247=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000953958]|Inborn genetic diseases [RCV002318187] |
Chr17:6701102 [GRCh38]
Chr17:6604421 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1124C>A (p.Pro375His) |
single nucleotide variant |
Inborn genetic diseases [RCV002318627] |
Chr17:6694129 [GRCh38]
Chr17:6597448 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1485C>G (p.Thr495=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001501943]|Inborn genetic diseases [RCV002318169] |
Chr17:6687619 [GRCh38]
Chr17:6590938 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.771C>T (p.Ala257=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002067065]|Inborn genetic diseases [RCV002318312] |
Chr17:6701072 [GRCh38]
Chr17:6604391 [GRCh37]
Chr17:17p13.1 |
likely benign |
| GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_177550.4:c.997C>T |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 25 [RCV000754768] |
|
pathogenic |
| NM_177550.5(SLC13A5):c.1157-4C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000976602]|not provided [RCV001574359] |
Chr17:6693166 [GRCh38]
Chr17:6596485 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.426G>T (p.Thr142=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001486270] |
Chr17:6703999 [GRCh38]
Chr17:6607318 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.840-105A>G |
single nucleotide variant |
not provided [RCV001534789]|not specified [RCV004594315] |
Chr17:6696046 [GRCh38]
Chr17:6599365 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1275+232A>G |
single nucleotide variant |
not provided [RCV001535276] |
Chr17:6692812 [GRCh38]
Chr17:6596131 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1275+115C>T |
single nucleotide variant |
not provided [RCV001666727] |
Chr17:6692929 [GRCh38]
Chr17:6596248 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001045451] |
Chr17:6687590 [GRCh38]
Chr17:6590909 [GRCh37]
Chr17:17p13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000017.11:g.(?_6686187)_(6713353_?)del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV001031464] |
Chr17:6589506..6616672 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| GRCh37/hg19 17p13.2-13.1(chr17:5892651-6850368)x3 |
copy number gain |
not provided [RCV000751911] |
Chr17:5892651..6850368 [GRCh37]
Chr17:17p13.2-13.1 |
uncertain significance |
| NC_000017.10:g.(?_6589506)_(8151374_?)dup |
duplication |
Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] |
Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.675C>T (p.Thr225=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000969255] |
Chr17:6703011 [GRCh38]
Chr17:6606330 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.576T>C (p.Thr192=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002065457] |
Chr17:6703110 [GRCh38]
Chr17:6606429 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.453C>T (p.Ile151=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000915075]|Inborn genetic diseases [RCV002336903] |
Chr17:6703972 [GRCh38]
Chr17:6607291 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.232-7G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000966573]|SLC13A5-related disorder [RCV004754652] |
Chr17:6706785 [GRCh38]
Chr17:6610104 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.368+9G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000893373]|SLC13A5-related disorder [RCV003940738] |
Chr17:6706633 [GRCh38]
Chr17:6609952 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.839+1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001040455] |
Chr17:6701003 [GRCh38]
Chr17:6604322 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.161T>A (p.Ile54Asn) |
single nucleotide variant |
not provided [RCV002280486] |
Chr17:6707098 [GRCh38]
Chr17:6610417 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.716+102C>T |
single nucleotide variant |
not provided [RCV001581860] |
Chr17:6702868 [GRCh38]
Chr17:6606187 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.9G>A (p.Ser3=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001038480] |
Chr17:6713325 [GRCh38]
Chr17:6616644 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000806730]|not provided [RCV001561178] |
Chr17:6695919 [GRCh38]
Chr17:6599238 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1056-5C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002540806] |
Chr17:6694202 [GRCh38]
Chr17:6597521 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.516G>A (p.Leu172=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002550558] |
Chr17:6703909 [GRCh38]
Chr17:6607228 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.547+8C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001397580] |
Chr17:6703870 [GRCh38]
Chr17:6607189 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1230C>T (p.Ile410=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000887723]|Inborn genetic diseases [RCV002363332]|not provided [RCV003314653] |
Chr17:6693089 [GRCh38]
Chr17:6596408 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.987G>A (p.Leu329=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000941235] |
Chr17:6695794 [GRCh38]
Chr17:6599113 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1575+10C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000941209] |
Chr17:6687519 [GRCh38]
Chr17:6590838 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.4(SLC13A5):c.-161C>G |
single nucleotide variant |
not provided [RCV000837369] |
Chr17:6713494 [GRCh38]
Chr17:6616813 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.277G>A (p.Gly93Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000820761] |
Chr17:6706733 [GRCh38]
Chr17:6610052 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.548-119G>A |
single nucleotide variant |
not provided [RCV000832107] |
Chr17:6703257 [GRCh38]
Chr17:6606576 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1157-204T>C |
single nucleotide variant |
not provided [RCV000832231] |
Chr17:6693366 [GRCh38]
Chr17:6596685 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1056-262T>C |
single nucleotide variant |
not provided [RCV000828474] |
Chr17:6694459 [GRCh38]
Chr17:6597778 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.512A>G (p.Glu171Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000817564] |
Chr17:6703913 [GRCh38]
Chr17:6607232 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1157-153T>G |
single nucleotide variant |
not provided [RCV000837762] |
Chr17:6693315 [GRCh38]
Chr17:6596634 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.52T>C (p.Phe18Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000797387] |
Chr17:6713282 [GRCh38]
Chr17:6616601 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1563G>A (p.Lys521=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001447905] |
Chr17:6687541 [GRCh38]
Chr17:6590860 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.547+202G>A |
single nucleotide variant |
not provided [RCV000832106] |
Chr17:6703676 [GRCh38]
Chr17:6606995 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1437+84G>A |
single nucleotide variant |
not provided [RCV000829234] |
Chr17:6690695 [GRCh38]
Chr17:6594014 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.547+272T>G |
single nucleotide variant |
not provided [RCV000828561] |
Chr17:6703606 [GRCh38]
Chr17:6606925 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1273G>A (p.Glu425Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000806936] |
Chr17:6693046 [GRCh38]
Chr17:6596365 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.308G>A (p.Trp103Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000807855] |
Chr17:6706702 [GRCh38]
Chr17:6610021 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.839+285C>G |
single nucleotide variant |
not provided [RCV000828743] |
Chr17:6700719 [GRCh38]
Chr17:6604038 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000807290] |
Chr17:6713331 [GRCh38]
Chr17:6616650 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1098G>T (p.Leu366=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002065859] |
Chr17:6694155 [GRCh38]
Chr17:6597474 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000807588] |
Chr17:6707057 [GRCh38]
Chr17:6610376 [GRCh37]
Chr17:17p13.1 |
likely pathogenic|uncertain significance |
| NM_177550.5(SLC13A5):c.840-115G>A |
single nucleotide variant |
not provided [RCV000833296] |
Chr17:6696056 [GRCh38]
Chr17:6599375 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1275+204A>G |
single nucleotide variant |
not provided [RCV000833297] |
Chr17:6692840 [GRCh38]
Chr17:6596159 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.4(SLC13A5):c.-84C>T |
single nucleotide variant |
not provided [RCV000836853] |
Chr17:6713417 [GRCh38]
Chr17:6616736 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1615T>C (p.Cys539Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000792564] |
Chr17:6686299 [GRCh38]
Chr17:6589618 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1198A>C (p.Lys400Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000798951] |
Chr17:6693121 [GRCh38]
Chr17:6596440 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.102+101G>C |
single nucleotide variant |
not provided [RCV000836939] |
Chr17:6713131 [GRCh38]
Chr17:6616450 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.840-28G>A |
single nucleotide variant |
not provided [RCV000836980] |
Chr17:6695969 [GRCh38]
Chr17:6599288 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.369-60C>T |
single nucleotide variant |
not provided [RCV000833805] |
Chr17:6704116 [GRCh38]
Chr17:6607435 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1006G>A (p.Gly336Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000800790] |
Chr17:6695775 [GRCh38]
Chr17:6599094 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1157-179A>T |
single nucleotide variant |
not provided [RCV000837168] |
Chr17:6693341 [GRCh38]
Chr17:6596660 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1575+5C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000820615] |
Chr17:6687524 [GRCh38]
Chr17:6590843 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.716+8C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002536091]|not provided [RCV000827205] |
Chr17:6702962 [GRCh38]
Chr17:6606281 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1276-318G>A |
single nucleotide variant |
not provided [RCV000827814] |
Chr17:6691258 [GRCh38]
Chr17:6594577 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.499G>A (p.Glu167Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000820071]|Inborn genetic diseases [RCV004029024] |
Chr17:6703926 [GRCh38]
Chr17:6607245 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1441C>T (p.Arg481Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000816292] |
Chr17:6687663 [GRCh38]
Chr17:6590982 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1696_1697del (p.His565_Ile566insTer) |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV000817124]|not provided [RCV003480865] |
Chr17:6686217..6686218 [GRCh38]
Chr17:6589536..6589537 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.468G>T (p.Leu156Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000817463] |
Chr17:6703957 [GRCh38]
Chr17:6607276 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1508T>C (p.Met503Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000791557] |
Chr17:6687596 [GRCh38]
Chr17:6590915 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.548-291G>A |
single nucleotide variant |
not provided [RCV000826226] |
Chr17:6703429 [GRCh38]
Chr17:6606748 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1275+151A>T |
single nucleotide variant |
not provided [RCV000836907] |
Chr17:6692893 [GRCh38]
Chr17:6596212 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.547+165dup |
duplication |
not provided [RCV000829226] |
Chr17:6703712..6703713 [GRCh38]
Chr17:6607031..6607032 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.547+179C>T |
single nucleotide variant |
not provided [RCV000829227] |
Chr17:6703699 [GRCh38]
Chr17:6607018 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1156+170T>C |
single nucleotide variant |
not provided [RCV000829232] |
Chr17:6693927 [GRCh38]
Chr17:6597246 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1576-226A>G |
single nucleotide variant |
not provided [RCV000829236] |
Chr17:6686564 [GRCh38]
Chr17:6589883 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.840-134C>A |
single nucleotide variant |
not provided [RCV000837064] |
Chr17:6696075 [GRCh38]
Chr17:6599394 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-56G>A |
single nucleotide variant |
not provided [RCV000837065] |
Chr17:6687722 [GRCh38]
Chr17:6591041 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-82A>G |
single nucleotide variant |
not provided [RCV000833298] |
Chr17:6687748 [GRCh38]
Chr17:6591067 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1405A>G (p.Thr469Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000822538] |
Chr17:6690811 [GRCh38]
Chr17:6594130 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.547+264T>C |
single nucleotide variant |
not provided [RCV000827813] |
Chr17:6703614 [GRCh38]
Chr17:6703614..6703615 [GRCh38]
Chr17:6606933 [GRCh37]
Chr17:6606933..6606934 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.643G>A (p.Ala215Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000793248] |
Chr17:6703043 [GRCh38]
Chr17:6606362 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000795405] |
Chr17:6706721 [GRCh38]
Chr17:6610040 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.547+304C>T |
single nucleotide variant |
not provided [RCV000830255] |
Chr17:6703574 [GRCh38]
Chr17:6606893 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1276-63C>T |
single nucleotide variant |
not provided [RCV000830927]|not specified [RCV004594172] |
Chr17:6691003 [GRCh38]
Chr17:6594322 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1575+28G>A |
single nucleotide variant |
not provided [RCV000829235] |
Chr17:6687501 [GRCh38]
Chr17:6590820 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.227G>A (p.Arg76Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001043778] |
Chr17:6707032 [GRCh38]
Chr17:6610351 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.231+46CT[2] |
microsatellite |
not provided [RCV000829702] |
Chr17:6706977..6706978 [GRCh38]
Chr17:6610296..6610297 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.714C>A (p.Asn238Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000811301]|Inborn genetic diseases [RCV002538094] |
Chr17:6702972 [GRCh38]
Chr17:6606291 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.63G>T (p.Pro21=) |
single nucleotide variant |
not provided [RCV000828221] |
Chr17:6713271 [GRCh38]
Chr17:6616590 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.262A>C (p.Met88Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000798655] |
Chr17:6706748 [GRCh38]
Chr17:6610067 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.548-292C>T |
single nucleotide variant |
not provided [RCV000828740] |
Chr17:6703430 [GRCh38]
Chr17:6606749 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.717-335G>C |
single nucleotide variant |
not provided [RCV000828741] |
Chr17:6701461 [GRCh38]
Chr17:6604780 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1156+34G>A |
single nucleotide variant |
not provided [RCV000837070] |
Chr17:6694063 [GRCh38]
Chr17:6597382 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.548-80G>A |
single nucleotide variant |
not provided [RCV000830923] |
Chr17:6703218 [GRCh38]
Chr17:6606537 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1483_1491del (p.Thr495_Ser497del) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV000822230] |
Chr17:6687613..6687621 [GRCh38]
Chr17:6590932..6590940 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.883G>A (p.Glu295Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000819246] |
Chr17:6695898 [GRCh38]
Chr17:6599217 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.717-263A>C |
single nucleotide variant |
not provided [RCV000826227] |
Chr17:6701389 [GRCh38]
Chr17:6701389..6701390 [GRCh38]
Chr17:6604708 [GRCh37]
Chr17:6604708..6604709 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.547+221C>A |
single nucleotide variant |
not provided [RCV000829228] |
Chr17:6703657 [GRCh38]
Chr17:6606976 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.840-225G>A |
single nucleotide variant |
not provided [RCV000829230] |
Chr17:6696166 [GRCh38]
Chr17:6599485 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1438-164G>A |
single nucleotide variant |
not provided [RCV000829233]|not specified [RCV004597880] |
Chr17:6687830 [GRCh38]
Chr17:6591149 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.103-61T>C |
single nucleotide variant |
not provided [RCV000832158] |
Chr17:6707217 [GRCh38]
Chr17:6610536 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.547+47C>T |
single nucleotide variant |
not provided [RCV000832159] |
Chr17:6703831 [GRCh38]
Chr17:6607150 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.369-148C>T |
single nucleotide variant |
not provided [RCV000832327] |
Chr17:6704204 [GRCh38]
Chr17:6607523 [GRCh37]
Chr17:17p13.1 |
benign |
| NC_000017.11:g.(?_6686187)_(6713353_?)dup |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV001031600] |
Chr17:6589506..6616672 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.320A>G (p.Lys107Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001045130] |
Chr17:6706690 [GRCh38]
Chr17:6610009 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1632C>T (p.Val544=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001487140] |
Chr17:6686282 [GRCh38]
Chr17:6589601 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1276-1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000989688] |
Chr17:6690941 [GRCh38]
Chr17:6594260 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic |
| NM_177550.5(SLC13A5):c.332T>G (p.Leu111Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV001003623] |
Chr17:6706678 [GRCh38]
Chr17:6609997 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.1445C>T (p.Ser482Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001231253] |
Chr17:6687659 [GRCh38]
Chr17:6590978 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000989690] |
Chr17:6706738 [GRCh38]
Chr17:6610057 [GRCh37]
Chr17:17p13.1 |
likely pathogenic|uncertain significance |
| NM_177550.5(SLC13A5):c.1115C>A (p.Ser372Ter) |
single nucleotide variant |
not provided [RCV001544975] |
Chr17:6694138 [GRCh38]
Chr17:6597457 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1127A>G (p.Lys376Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001236512] |
Chr17:6694126 [GRCh38]
Chr17:6597445 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.737A>G (p.Asp246Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001209193] |
Chr17:6701106 [GRCh38]
Chr17:6604425 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1150G>A (p.Glu384Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001237524] |
Chr17:6694103 [GRCh38]
Chr17:6597422 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1199A>T (p.Lys400Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001221014] |
Chr17:6693120 [GRCh38]
Chr17:6596439 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.569G>A (p.Gly190Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001209958]|Inborn genetic diseases [RCV002561722] |
Chr17:6703117 [GRCh38]
Chr17:6606436 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.802G>A (p.Ala268Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001232004] |
Chr17:6701041 [GRCh38]
Chr17:6604360 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.919C>T (p.Arg307Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001214554] |
Chr17:6695862 [GRCh38]
Chr17:6599181 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.623T>C (p.Met208Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001238113] |
Chr17:6703063 [GRCh38]
Chr17:6606382 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.232-2A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001201858] |
Chr17:6706780 [GRCh38]
Chr17:6610099 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.497C>A (p.Thr166Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001241055] |
Chr17:6703928 [GRCh38]
Chr17:6607247 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.362C>T (p.Pro121Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001230472] |
Chr17:6706648 [GRCh38]
Chr17:6609967 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000989689]|not provided [RCV001557426] |
Chr17:6703991 [GRCh38]
Chr17:6607310 [GRCh37]
Chr17:17p13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.103-1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000989691] |
Chr17:6707157 [GRCh38]
Chr17:6610476 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.369-8C>A |
single nucleotide variant |
not provided [RCV000996471] |
Chr17:6704064 [GRCh38]
Chr17:6607383 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.348G>C (p.Trp116Cys) |
single nucleotide variant |
not provided [RCV004776981] |
Chr17:6706662 [GRCh38]
Chr17:6609981 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.840-90A>G |
single nucleotide variant |
not provided [RCV001551337] |
Chr17:6696031 [GRCh38]
Chr17:6599350 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.368+214C>T |
single nucleotide variant |
not provided [RCV001552254] |
Chr17:6706428 [GRCh38]
Chr17:6609747 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NC_000017.11:g.6713628T>C |
single nucleotide variant |
not provided [RCV001570790] |
Chr17:6713628 [GRCh38]
Chr17:6616947 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1056-33T>C |
single nucleotide variant |
not provided [RCV001567955] |
Chr17:6694230 [GRCh38]
Chr17:6597549 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1437+176A>G |
single nucleotide variant |
not provided [RCV001617190] |
Chr17:6690603 [GRCh38]
Chr17:6593922 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.102+24C>T |
single nucleotide variant |
not provided [RCV001722986] |
Chr17:6713208 [GRCh38]
Chr17:6616527 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.840-265A>C |
single nucleotide variant |
not provided [RCV001561286] |
Chr17:6696206 [GRCh38]
Chr17:6599525 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1055+89G>C |
single nucleotide variant |
not provided [RCV001577021] |
Chr17:6695637 [GRCh38]
Chr17:6598956 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1276-151G>A |
single nucleotide variant |
not provided [RCV001551354] |
Chr17:6691091 [GRCh38]
Chr17:6594410 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.716+283G>T |
single nucleotide variant |
not provided [RCV001551907] |
Chr17:6702687 [GRCh38]
Chr17:6606006 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[22] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002072370]|not provided [RCV001614454] |
Chr17:6693179..6693186 [GRCh38]
Chr17:6596498..6596505 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1300G>A (p.Gly434Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002570721]|not provided [RCV001558738] |
Chr17:6690916 [GRCh38]
Chr17:6594235 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1068T>C (p.Asp356=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000932402] |
Chr17:6694185 [GRCh38]
Chr17:6597504 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.321G>A (p.Lys107=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001403743]|Inborn genetic diseases [RCV002320110] |
Chr17:6706689 [GRCh38]
Chr17:6610008 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1206C>T (p.Thr402=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV000887518] |
Chr17:6693113 [GRCh38]
Chr17:6596432 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.906G>T (p.Leu302=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001495810] |
Chr17:6695875 [GRCh38]
Chr17:6599194 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1497C>A (p.Ser499=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001440001] |
Chr17:6687607 [GRCh38]
Chr17:6590926 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001242699]|not provided [RCV001311106] |
Chr17:6706693 [GRCh38]
Chr17:6610012 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.955G>A (p.Val319Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001247536] |
Chr17:6695826 [GRCh38]
Chr17:6599145 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001049896]|Inborn genetic diseases [RCV003307852]|not provided [RCV001574963] |
Chr17:6703920 [GRCh38]
Chr17:6607239 [GRCh37]
Chr17:17p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.1645C>T (p.Arg549Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001222857] |
Chr17:6686269 [GRCh38]
Chr17:6589588 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001219549]|Inborn genetic diseases [RCV004032365] |
Chr17:6694115 [GRCh38]
Chr17:6597434 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.930del (p.Leu312fs) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV001202622] |
Chr17:6695851 [GRCh38]
Chr17:6599170 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1000G>T (p.Asp334Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001219977] |
Chr17:6695781 [GRCh38]
Chr17:6599100 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.286G>A (p.Val96Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001051515]|See cases [RCV002252301] |
Chr17:6706724 [GRCh38]
Chr17:6610043 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.335G>A (p.Arg112His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001224686] |
Chr17:6706675 [GRCh38]
Chr17:6609994 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.368+8C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001486161] |
Chr17:6706634 [GRCh38]
Chr17:6609953 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.369-304A>G |
single nucleotide variant |
not provided [RCV001556607] |
Chr17:6704360 [GRCh38]
Chr17:6607679 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1437+280C>T |
single nucleotide variant |
not provided [RCV001563467] |
Chr17:6690499 [GRCh38]
Chr17:6593818 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[28] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002073176]|not provided [RCV001676450] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.102+232G>A |
single nucleotide variant |
not provided [RCV001641679] |
Chr17:6713000 [GRCh38]
Chr17:6616319 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1438-113T>A |
single nucleotide variant |
not provided [RCV001673889]|not specified [RCV004598088] |
Chr17:6687779 [GRCh38]
Chr17:6591098 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.*315G>A |
single nucleotide variant |
not provided [RCV001717946] |
Chr17:6685892 [GRCh38]
Chr17:6589211 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1575+40C>T |
single nucleotide variant |
not provided [RCV001596550] |
Chr17:6687489 [GRCh38]
Chr17:6590808 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1451del (p.Gly484fs) |
deletion |
Epileptic encephalopathy [RCV001003622] |
Chr17:6687653 [GRCh38]
Chr17:6590972 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.1687G>A (p.Val563Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001045389] |
Chr17:6686227 [GRCh38]
Chr17:6589546 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001066902]|not provided [RCV001772297] |
Chr17:6693156 [GRCh38]
Chr17:6596475 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.239T>C (p.Val80Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001045129] |
Chr17:6706771 [GRCh38]
Chr17:6610090 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.434C>A (p.Thr145Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001712895] |
Chr17:6703991 [GRCh38]
Chr17:6607310 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1157-68GT[25] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002072917]|not provided [RCV001610161] |
Chr17:6693179..6693180 [GRCh38]
Chr17:6596498..6596499 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1002C>A (p.Asp334Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001045368] |
Chr17:6695779 [GRCh38]
Chr17:6599098 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.712A>G (p.Asn238Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001206522] |
Chr17:6702974 [GRCh38]
Chr17:6606293 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.931C>T (p.Pro311Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001039024]|Inborn genetic diseases [RCV002372761] |
Chr17:6695850 [GRCh38]
Chr17:6599169 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.831G>A (p.Met277Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001057312] |
Chr17:6701012 [GRCh38]
Chr17:6604331 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.304C>T (p.Arg102Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001235049] |
Chr17:6706706 [GRCh38]
Chr17:6610025 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.325A>G (p.Ile109Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001216514] |
Chr17:6706685 [GRCh38]
Chr17:6610004 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001234080]|not provided [RCV001760242] |
Chr17:6695811 [GRCh38]
Chr17:6599130 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1646G>A (p.Arg549Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001217187]|not provided [RCV003442776] |
Chr17:6686268 [GRCh38]
Chr17:6589587 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.178T>C (p.Ser60Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001058616] |
Chr17:6707081 [GRCh38]
Chr17:6610400 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1564G>A (p.Val522Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001035159]|not provided [RCV005054313] |
Chr17:6687540 [GRCh38]
Chr17:6590859 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.526G>T (p.Gly176Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001053973] |
Chr17:6703899 [GRCh38]
Chr17:6607218 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1172T>C (p.Phe391Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001072071] |
Chr17:6693147 [GRCh38]
Chr17:6596466 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001201857]|not provided [RCV004726948] |
Chr17:6687644 [GRCh38]
Chr17:6590963 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1600A>G (p.Ile534Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001050823] |
Chr17:6686314 [GRCh38]
Chr17:6589633 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.169G>T (p.Ala57Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001232830] |
Chr17:6707090 [GRCh38]
Chr17:6610409 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001213700]|not provided [RCV001552190] |
Chr17:6703042 [GRCh38]
Chr17:6606361 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.248T>G (p.Met83Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001216491] |
Chr17:6706762 [GRCh38]
Chr17:6610081 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1259T>C (p.Leu420Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001211153] |
Chr17:6693060 [GRCh38]
Chr17:6596379 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.369-2A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001253450] |
Chr17:6704058 [GRCh38]
Chr17:6607377 [GRCh37]
Chr17:17p13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.419G>A (p.Ser140Asn) |
single nucleotide variant |
Epileptic encephalopathy, early infantile, 25 [RCV001331886] |
Chr17:6704006 [GRCh38]
Chr17:6607325 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1599C>A (p.Asn533Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001350273] |
Chr17:6686315 [GRCh38]
Chr17:6589634 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.51G>C (p.Leu17Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001305429] |
Chr17:6713283 [GRCh38]
Chr17:6616602 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.361C>A (p.Pro121Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001300899] |
Chr17:6706649 [GRCh38]
Chr17:6609968 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.691G>A (p.Val231Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001305284] |
Chr17:6702995 [GRCh38]
Chr17:6606314 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.137C>T (p.Ala46Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001341782] |
Chr17:6707122 [GRCh38]
Chr17:6610441 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.358A>G (p.Lys120Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001306411] |
Chr17:6706652 [GRCh38]
Chr17:6609971 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_6328780)_(7128416_?)dup |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV001320321] |
Chr17:6328780..7128416 [GRCh37]
Chr17:17p13.2-13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1156+20C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001331882] |
Chr17:6694077 [GRCh38]
Chr17:6597396 [GRCh37]
Chr17:17p13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_177550.5(SLC13A5):c.490G>A (p.Ala164Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001309500] |
Chr17:6703935 [GRCh38]
Chr17:6607254 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.11C>T (p.Ala4Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001373330] |
Chr17:6713323 [GRCh38]
Chr17:6616642 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.873C>T (p.Ser291=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001295849]|Inborn genetic diseases [RCV002375342] |
Chr17:6695908 [GRCh38]
Chr17:6599227 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.487A>G (p.Ser163Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001338679] |
Chr17:6703938 [GRCh38]
Chr17:6607257 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.39C>G (p.Ser13=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001421481] |
Chr17:6713295 [GRCh38]
Chr17:6616614 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1691C>T (p.Thr564Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001312783] |
Chr17:6686223 [GRCh38]
Chr17:6589542 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.369-9C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001313421] |
Chr17:6704065 [GRCh38]
Chr17:6607384 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.40T>C (p.Phe14Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001333660] |
Chr17:6713294 [GRCh38]
Chr17:6616613 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1560C>A (p.Leu520=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001422504]|Inborn genetic diseases [RCV002404988] |
Chr17:6687544 [GRCh38]
Chr17:6590863 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1166C>T (p.Thr389Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001322847] |
Chr17:6693153 [GRCh38]
Chr17:6596472 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1442G>A (p.Arg481His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001362908]|Inborn genetic diseases [RCV002395809] |
Chr17:6687662 [GRCh38]
Chr17:6590981 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.547+6C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001343774] |
Chr17:6703872 [GRCh38]
Chr17:6607191 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001340849]|not provided [RCV004779083] |
Chr17:6703085 [GRCh38]
Chr17:6606404 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001300633]|not provided [RCV001773608] |
Chr17:6690883 [GRCh38]
Chr17:6594202 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.522C>G (p.Asp174Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001305973] |
Chr17:6703903 [GRCh38]
Chr17:6607222 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1462C>A (p.Leu488Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001298443] |
Chr17:6687642 [GRCh38]
Chr17:6590961 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.742G>A (p.Val248Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001339144] |
Chr17:6701101 [GRCh38]
Chr17:6604420 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1540G>A (p.Val514Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001341355] |
Chr17:6687564 [GRCh38]
Chr17:6590883 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.496A>G (p.Thr166Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001347701] |
Chr17:6703929 [GRCh38]
Chr17:6607248 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.716A>G (p.Glu239Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001321035] |
Chr17:6702970 [GRCh38]
Chr17:6606289 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.568G>A (p.Gly190Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001347860] |
Chr17:6703118 [GRCh38]
Chr17:6606437 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.175_192del (p.Thr59_Val64del) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV001325041] |
Chr17:6707067..6707084 [GRCh38]
Chr17:6610386..6610403 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001331885] |
Chr17:6701058 [GRCh38]
Chr17:6604377 [GRCh37]
Chr17:17p13.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_177550.5(SLC13A5):c.1219C>T (p.Pro407Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001359846] |
Chr17:6693100 [GRCh38]
Chr17:6596419 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1308_1322del (p.Gln436_Leu440del) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV001305544] |
Chr17:6690894..6690908 [GRCh38]
Chr17:6594213..6594227 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.864G>A (p.Gly288=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001413202] |
Chr17:6695917 [GRCh38]
Chr17:6599236 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1139G>A (p.Arg380His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001370211] |
Chr17:6694114 [GRCh38]
Chr17:6597433 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.327C>G (p.Ile109Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001316539] |
Chr17:6706683 [GRCh38]
Chr17:6610002 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1087G>A (p.Val363Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001367452] |
Chr17:6694166 [GRCh38]
Chr17:6597485 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001316201]|not provided [RCV001732123] |
Chr17:6690925 [GRCh38]
Chr17:6594244 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.650G>A (p.Ser217Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001360817] |
Chr17:6703036 [GRCh38]
Chr17:6606355 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.581G>A (p.Gly194Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001348183] |
Chr17:6703105 [GRCh38]
Chr17:6606424 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.901G>A (p.Val301Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001313423] |
Chr17:6695880 [GRCh38]
Chr17:6599199 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.705C>T (p.Gly235=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001339498] |
Chr17:6702981 [GRCh38]
Chr17:6606300 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.1510T>C (p.Leu504=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001399098] |
Chr17:6687594 [GRCh38]
Chr17:6590913 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1248C>T (p.Gly416=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001498446] |
Chr17:6693071 [GRCh38]
Chr17:6596390 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.207C>T (p.Leu69=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001487216] |
Chr17:6707052 [GRCh38]
Chr17:6610371 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1428T>C (p.Phe476=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001502090] |
Chr17:6690788 [GRCh38]
Chr17:6594107 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.942C>T (p.Phe314=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001470188]|not provided [RCV001664890] |
Chr17:6695839 [GRCh38]
Chr17:6599158 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[20] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV001516026] |
Chr17:6693179..6693190 [GRCh38]
Chr17:6596498..6596509 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1449C>T (p.Ile483=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001478608] |
Chr17:6687655 [GRCh38]
Chr17:6590974 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1275+7T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001399432] |
Chr17:6693037 [GRCh38]
Chr17:6596356 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1524C>T (p.Thr508=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001487887] |
Chr17:6687580 [GRCh38]
Chr17:6590899 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1530A>G (p.Pro510=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001480021] |
Chr17:6687574 [GRCh38]
Chr17:6590893 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1335G>C (p.Pro445=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001451698] |
Chr17:6690881 [GRCh38]
Chr17:6594200 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1248C>A (p.Gly416=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001465877]|Inborn genetic diseases [RCV002396101] |
Chr17:6693071 [GRCh38]
Chr17:6596390 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[21] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV001517914]|not provided [RCV001647311] |
Chr17:6693179..6693188 [GRCh38]
Chr17:6596498..6596507 [GRCh37]
Chr17:17p13.1 |
benign |
| NC_000017.10:g.(?_6589506)_(7128436_?)del |
deletion |
Very long chain acyl-CoA dehydrogenase deficiency [RCV001391032] |
Chr17:6589506..7128436 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1221C>T (p.Pro407=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001470936] |
Chr17:6693098 [GRCh38]
Chr17:6596417 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.276C>T (p.Gly92=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001393620]|not provided [RCV004597992] |
Chr17:6706734 [GRCh38]
Chr17:6610053 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1494C>T (p.Ala498=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001457142] |
Chr17:6687610 [GRCh38]
Chr17:6590929 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.882C>T (p.Asn294=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001488430]|not provided [RCV001538309] |
Chr17:6695899 [GRCh38]
Chr17:6599218 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1125C>T (p.Pro375=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001411885] |
Chr17:6694128 [GRCh38]
Chr17:6597447 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.132C>T (p.Leu44=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001431008] |
Chr17:6707127 [GRCh38]
Chr17:6610446 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.*176T>A |
single nucleotide variant |
not provided [RCV001541661] |
Chr17:6686031 [GRCh38]
Chr17:6589350 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1437+9C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001439926] |
Chr17:6690770 [GRCh38]
Chr17:6594089 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.279C>G (p.Gly93=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001431697] |
Chr17:6706731 [GRCh38]
Chr17:6610050 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1179C>T (p.Pro393=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001448567] |
Chr17:6693140 [GRCh38]
Chr17:6596459 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.702G>C (p.Leu234=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001481683] |
Chr17:6702984 [GRCh38]
Chr17:6606303 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.*31T>C |
single nucleotide variant |
not provided [RCV001616959] |
Chr17:6686176 [GRCh38]
Chr17:6589495 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.717-312C>T |
single nucleotide variant |
not provided [RCV001695418] |
Chr17:6701438 [GRCh38]
Chr17:6604757 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.102+8G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001506751] |
Chr17:6713224 [GRCh38]
Chr17:6616543 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[27] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV001476381]|not provided [RCV001597279] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_177550.5(SLC13A5):c.229C>A (p.Gln77Lys) |
single nucleotide variant |
not provided [RCV001536389] |
Chr17:6707030 [GRCh38]
Chr17:6610349 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1056-290C>T |
single nucleotide variant |
not provided [RCV001586728] |
Chr17:6694487 [GRCh38]
Chr17:6597806 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.103-226G>C |
single nucleotide variant |
not provided [RCV001614311] |
Chr17:6707382 [GRCh38]
Chr17:6610701 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1017C>G (p.Pro339=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001481659] |
Chr17:6695764 [GRCh38]
Chr17:6599083 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1074T>C (p.Thr358=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001451596] |
Chr17:6694179 [GRCh38]
Chr17:6597498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.276C>A (p.Gly92=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001397766] |
Chr17:6706734 [GRCh38]
Chr17:6610053 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1290C>G (p.Ser430=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001483448] |
Chr17:6690926 [GRCh38]
Chr17:6594245 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.232-8C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001485118]|not provided [RCV001557453] |
Chr17:6706786 [GRCh38]
Chr17:6610105 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NC_000017.10:g.(?_6616531)_(6616672_?)del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV001382192] |
Chr17:6616531..6616672 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.861C>T (p.Cys287=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001503727] |
Chr17:6695920 [GRCh38]
Chr17:6599239 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.318C>T (p.His106=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001398257] |
Chr17:6706692 [GRCh38]
Chr17:6610011 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1318T>C (p.Leu440=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001393829] |
Chr17:6690898 [GRCh38]
Chr17:6594217 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[18] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV001522236] |
Chr17:6693179..6693194 [GRCh38]
Chr17:6596498..6596513 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.237T>C (p.Cys79=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002539764]|not provided [RCV001727019] |
Chr17:6706773 [GRCh38]
Chr17:6610092 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NC_000017.10:g.(?_6328780)_(7606804_?)dup |
duplication |
Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] |
Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.245A>G (p.Tyr82Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001761393] |
Chr17:6706765 [GRCh38]
Chr17:6610084 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1178C>T (p.Pro393Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001733778] |
Chr17:6693141 [GRCh38]
Chr17:6596460 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1558C>G (p.Leu520Val) |
single nucleotide variant |
not provided [RCV001752740] |
Chr17:6687546 [GRCh38]
Chr17:6590865 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1627G>T (p.Ala543Ser) |
single nucleotide variant |
not provided [RCV001770632] |
Chr17:6686287 [GRCh38]
Chr17:6589606 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.517G>A (p.Val173Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002032745]|not provided [RCV001754066] |
Chr17:6703908 [GRCh38]
Chr17:6607227 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1468A>G (p.Ile490Val) |
single nucleotide variant |
not provided [RCV001754211] |
Chr17:6687636 [GRCh38]
Chr17:6590955 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.266T>C (p.Leu89Pro) |
single nucleotide variant |
not provided [RCV001760965] |
Chr17:6706744 [GRCh38]
Chr17:6610063 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.135G>A (p.Met45Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001761394] |
Chr17:6707124 [GRCh38]
Chr17:6610443 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.659G>A (p.Gly220Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001822987] |
Chr17:6703027 [GRCh38]
Chr17:6606346 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.555A>G (p.Gln185=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001874980] |
Chr17:6703131 [GRCh38]
Chr17:6606450 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.102G>A (p.Lys34=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001875063] |
Chr17:6713232 [GRCh38]
Chr17:6616551 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.429_437del (p.Thr144_Ala146del) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV002007680] |
Chr17:6703988..6703996 [GRCh38]
Chr17:6607307..6607315 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1363C>T (p.Leu455Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001929329] |
Chr17:6690853 [GRCh38]
Chr17:6594172 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1156+20C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001894145] |
Chr17:6694077 [GRCh38]
Chr17:6597396 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.1033G>T (p.Ala345Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001910270] |
Chr17:6695748 [GRCh38]
Chr17:6599067 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.446T>C (p.Val149Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002005692] |
Chr17:6703979 [GRCh38]
Chr17:6607298 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.669C>T (p.Thr223=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002041179] |
Chr17:6703017 [GRCh38]
Chr17:6606336 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1162A>G (p.Lys388Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002006510] |
Chr17:6693157 [GRCh38]
Chr17:6596476 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.368G>A (p.Arg123Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001985948] |
Chr17:6706642 [GRCh38]
Chr17:6609961 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.761T>G (p.Phe254Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001969457] |
Chr17:6701082 [GRCh38]
Chr17:6604401 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.25T>G (p.Ser9Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001986912] |
Chr17:6713309 [GRCh38]
Chr17:6616628 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.111G>C (p.Arg37Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002020855] |
Chr17:6707148 [GRCh38]
Chr17:6610467 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001911536] |
Chr17:6690837 [GRCh38]
Chr17:6594156 [GRCh37]
Chr17:17p13.1 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 17p13.2-13.1(chr17:6248108-6637236)x1 |
copy number loss |
not provided [RCV001836500] |
Chr17:6248108..6637236 [GRCh37]
Chr17:17p13.2-13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1454T>G (p.Leu485Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001986344] |
Chr17:6687650 [GRCh38]
Chr17:6590969 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002004634] |
Chr17:6687563 [GRCh38]
Chr17:6590882 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.645G>A (p.Ala215=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001968031] |
Chr17:6703041 [GRCh38]
Chr17:6606360 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.186G>A (p.Met62Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001872749]|Inborn genetic diseases [RCV004040540] |
Chr17:6707073 [GRCh38]
Chr17:6610392 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1438T>C (p.Ser480Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001872795] |
Chr17:6687666 [GRCh38]
Chr17:6590985 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1475del (p.Leu492fs) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV001913296] |
Chr17:6687629 [GRCh38]
Chr17:6590948 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.382T>C (p.Phe128Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002042791] |
Chr17:6704043 [GRCh38]
Chr17:6607362 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1357T>A (p.Ser453Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001891470] |
Chr17:6690859 [GRCh38]
Chr17:6594178 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.664G>A (p.Ala222Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001909168] |
Chr17:6703022 [GRCh38]
Chr17:6606341 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.43G>A (p.Val15Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001932647]|not provided [RCV003482382] |
Chr17:6713291 [GRCh38]
Chr17:6616610 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1591A>G (p.Ile531Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001924204] |
Chr17:6686323 [GRCh38]
Chr17:6589642 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1454T>C (p.Leu485Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001982284] |
Chr17:6687650 [GRCh38]
Chr17:6590969 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.106G>A (p.Val36Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001921371] |
Chr17:6707153 [GRCh38]
Chr17:6610472 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.313C>A (p.Leu105Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001888785] |
Chr17:6706697 [GRCh38]
Chr17:6610016 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.383T>G (p.Phe128Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001941659] |
Chr17:6704042 [GRCh38]
Chr17:6607361 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1139G>T (p.Arg380Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002030521] |
Chr17:6694114 [GRCh38]
Chr17:6597433 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.103-10G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001930910] |
Chr17:6707166 [GRCh38]
Chr17:6610485 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.839+4A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001976530] |
Chr17:6701000 [GRCh38]
Chr17:6604319 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.334C>T (p.Arg112Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001901890] |
Chr17:6706676 [GRCh38]
Chr17:6609995 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.208T>C (p.Phe70Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002015115] |
Chr17:6707051 [GRCh38]
Chr17:6610370 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1362G>C (p.Leu454Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001883018] |
Chr17:6690854 [GRCh38]
Chr17:6594173 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1106T>C (p.Ile369Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002030132] |
Chr17:6694147 [GRCh38]
Chr17:6597466 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.618_626dup (p.Ala207_Thr209dup) |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV001897292] |
Chr17:6703059..6703060 [GRCh38]
Chr17:6606378..6606379 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1705T>C (p.Ter569Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002016088] |
Chr17:6686209 [GRCh38]
Chr17:6589528 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1411T>G (p.Leu471Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001956701] |
Chr17:6690805 [GRCh38]
Chr17:6594124 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1094C>T (p.Thr365Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001905192] |
Chr17:6694159 [GRCh38]
Chr17:6597478 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.20A>G (p.Tyr7Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001940954] |
Chr17:6713314 [GRCh38]
Chr17:6616633 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1396G>A (p.Val466Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001939121]|Inborn genetic diseases [RCV002562010] |
Chr17:6690820 [GRCh38]
Chr17:6594139 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.134T>C (p.Met45Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001998841] |
Chr17:6707125 [GRCh38]
Chr17:6610444 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.10G>C (p.Ala4Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001934009] |
Chr17:6713324 [GRCh38]
Chr17:6616643 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.264G>A (p.Met88Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002035699] |
Chr17:6706746 [GRCh38]
Chr17:6610065 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.748T>C (p.Phe250Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001952473] |
Chr17:6701095 [GRCh38]
Chr17:6604414 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.124A>C (p.Ile42Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001960325] |
Chr17:6707135 [GRCh38]
Chr17:6610454 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.253G>A (p.Asp85Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001980546] |
Chr17:6706757 [GRCh38]
Chr17:6610076 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.548-17C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002012311] |
Chr17:6703155 [GRCh38]
Chr17:6606474 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1117C>T (p.Gln373Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001950878] |
Chr17:6694136 [GRCh38]
Chr17:6597455 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1558C>T (p.Leu520Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001876422] |
Chr17:6687546 [GRCh38]
Chr17:6590865 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1286T>G (p.Leu429Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV001973139] |
Chr17:6690930 [GRCh38]
Chr17:6594249 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1056-1G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002047438] |
Chr17:6694198 [GRCh38]
Chr17:6597517 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1231G>A (p.Val411Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002050950] |
Chr17:6693088 [GRCh38]
Chr17:6596407 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.849G>A (p.Lys283=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002168186] |
Chr17:6695932 [GRCh38]
Chr17:6599251 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.489C>T (p.Ser163=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002149338] |
Chr17:6703936 [GRCh38]
Chr17:6607255 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[14] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002111875] |
Chr17:6693179..6693202 [GRCh38]
Chr17:6596498..6596521 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[34] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002105560] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1576-20T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002186146] |
Chr17:6686358 [GRCh38]
Chr17:6589677 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1437+18G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002087824] |
Chr17:6690761 [GRCh38]
Chr17:6594080 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[30] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002189616] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.102+13del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV002111009] |
Chr17:6713219 [GRCh38]
Chr17:6616538 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[13] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002109478] |
Chr17:6693179..6693204 [GRCh38]
Chr17:6596498..6596523 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.466T>C (p.Leu156=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002111404] |
Chr17:6703959 [GRCh38]
Chr17:6607278 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1575+12G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002146765] |
Chr17:6687517 [GRCh38]
Chr17:6590836 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1055+12A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002186205] |
Chr17:6695714 [GRCh38]
Chr17:6599033 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.342C>T (p.Leu114=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002090610] |
Chr17:6706668 [GRCh38]
Chr17:6609987 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.390C>T (p.Gly130=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002128745] |
Chr17:6704035 [GRCh38]
Chr17:6607354 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.717-6T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002110416] |
Chr17:6701132 [GRCh38]
Chr17:6604451 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[35] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002207500] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1275+15C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002168590] |
Chr17:6693029 [GRCh38]
Chr17:6596348 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1276-17C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002087956] |
Chr17:6690957 [GRCh38]
Chr17:6594276 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[19] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002147697] |
Chr17:6693179..6693192 [GRCh38]
Chr17:6596498..6596511 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[36] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002075186] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1056-6A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002208606] |
Chr17:6694203 [GRCh38]
Chr17:6597522 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.548-10C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002078266] |
Chr17:6703148 [GRCh38]
Chr17:6606467 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.676G>A (p.Gly226Arg) |
single nucleotide variant |
not provided [RCV002211383] |
Chr17:6703010 [GRCh38]
Chr17:6606329 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.547+9C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002080257] |
Chr17:6703869 [GRCh38]
Chr17:6607188 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.171T>C (p.Ala57=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002114903] |
Chr17:6707088 [GRCh38]
Chr17:6610407 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.666C>T (p.Ala222=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002215052] |
Chr17:6703020 [GRCh38]
Chr17:6606339 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.369-13C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002078466] |
Chr17:6704069 [GRCh38]
Chr17:6607388 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-5C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002131697] |
Chr17:6687671 [GRCh38]
Chr17:6590990 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-18del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV002195403] |
Chr17:6687684 [GRCh38]
Chr17:6591003 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1422C>T (p.Pro474=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002212603] |
Chr17:6690794 [GRCh38]
Chr17:6594113 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1248C>G (p.Gly416=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002213157] |
Chr17:6693071 [GRCh38]
Chr17:6596390 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1156+15C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002153618] |
Chr17:6694082 [GRCh38]
Chr17:6597401 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.471G>A (p.Gln157=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002096008] |
Chr17:6703954 [GRCh38]
Chr17:6607273 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1156+11T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002078258] |
Chr17:6694086 [GRCh38]
Chr17:6597405 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-20G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002096554] |
Chr17:6687686 [GRCh38]
Chr17:6591005 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.582G>C (p.Gly194=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002150035] |
Chr17:6703104 [GRCh38]
Chr17:6606423 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[31] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002214669] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[29] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002195491] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[17] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002173286] |
Chr17:6693179..6693196 [GRCh38]
Chr17:6596498..6596515 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[16] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002074959] |
Chr17:6693179..6693198 [GRCh38]
Chr17:6596498..6596517 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1335G>A (p.Pro445=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002193193] |
Chr17:6690881 [GRCh38]
Chr17:6594200 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NC_000017.11:g.6702964ACTC[3] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002212759] |
Chr17:6702963..6702964 [GRCh38]
Chr17:6606282..6606283 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.717-20G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002174635] |
Chr17:6701146 [GRCh38]
Chr17:6604465 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.627C>A (p.Thr209=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002199483] |
Chr17:6703059 [GRCh38]
Chr17:6606378 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1062C>T (p.Val354=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002201600] |
Chr17:6694191 [GRCh38]
Chr17:6597510 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.486A>G (p.Thr162=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002123983] |
Chr17:6703939 [GRCh38]
Chr17:6607258 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1536C>T (p.Ala512=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002217681] |
Chr17:6687568 [GRCh38]
Chr17:6590887 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1272C>T (p.Ser424=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002099160] |
Chr17:6693047 [GRCh38]
Chr17:6596366 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.981C>T (p.Val327=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002220803] |
Chr17:6695800 [GRCh38]
Chr17:6599119 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.69G>T (p.Leu23=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002183752]|Inborn genetic diseases [RCV002363698] |
Chr17:6713265 [GRCh38]
Chr17:6616584 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1240C>T (p.Leu414=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002180259] |
Chr17:6693079 [GRCh38]
Chr17:6596398 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[24] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002164338] |
Chr17:6693179..6693182 [GRCh38]
Chr17:6596498..6596501 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_177550.5(SLC13A5):c.1157-68GT[23] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002204904] |
Chr17:6693179..6693184 [GRCh38]
Chr17:6596498..6596503 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1407C>A (p.Thr469=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002137285] |
Chr17:6690809 [GRCh38]
Chr17:6594128 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.669C>A (p.Thr223=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002102006] |
Chr17:6703017 [GRCh38]
Chr17:6606336 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1276-11G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002218792] |
Chr17:6690951 [GRCh38]
Chr17:6594270 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[33] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002139620] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.750T>C (p.Phe250=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002104212] |
Chr17:6701093 [GRCh38]
Chr17:6604412 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1689G>A (p.Val563=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002102755] |
Chr17:6686225 [GRCh38]
Chr17:6589544 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.425del (p.Thr142fs) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV002221913] |
|
likely pathogenic |
| NM_177550.5(SLC13A5):c.313C>T (p.Leu105=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002137099]|not provided [RCV004809770] |
Chr17:6706697 [GRCh38]
Chr17:6610016 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.232-8_232-7delinsTA |
indel |
Developmental and epileptic encephalopathy, 25 [RCV002179295] |
Chr17:6706785..6706786 [GRCh38]
Chr17:6610104..6610105 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.24C>A (p.Val8=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002203447] |
Chr17:6713310 [GRCh38]
Chr17:6616629 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.699C>T (p.Leu233=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002200994] |
Chr17:6702987 [GRCh38]
Chr17:6606306 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1275+9_1275+70del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV002184108] |
Chr17:6692974..6693035 [GRCh38]
Chr17:6596293..6596354 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[32] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002200904] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.609G>A (p.Arg203=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002217861] |
Chr17:6703077 [GRCh38]
Chr17:6606396 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.547+15A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002184658] |
Chr17:6703863 [GRCh38]
Chr17:6607182 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.339G>A (p.Thr113=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003115351] |
Chr17:6706671 [GRCh38]
Chr17:6609990 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NC_000017.10:g.(?_6607177)_(6607395_?)del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV003113885] |
Chr17:6607177..6607395 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_6607177)_(6616652_?)dup |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV003113886] |
Chr17:6607177..6616652 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_5289526)_(6616652_?)dup |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV003113887] |
Chr17:5289526..6616652 [GRCh37]
Chr17:17p13.2-13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1055+14T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003112229] |
Chr17:6695712 [GRCh38]
Chr17:6599031 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003122440]|not provided [RCV004775346] |
Chr17:6686312 [GRCh38]
Chr17:6589631 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1635C>G (p.Asn545Lys) |
single nucleotide variant |
not provided [RCV003154455] |
Chr17:6686279 [GRCh38]
Chr17:6589598 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.556G>A (p.Val186Met) |
single nucleotide variant |
not provided [RCV002293836] |
Chr17:6703130 [GRCh38]
Chr17:6606449 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.608G>A (p.Arg203Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002303459]|Inborn genetic diseases [RCV003164502] |
Chr17:6703078 [GRCh38]
Chr17:6606397 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.59C>T (p.Thr20Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002901876] |
Chr17:6713275 [GRCh38]
Chr17:6616594 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| Single allele |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV004597218] |
Chr17:6686163..6687867 [GRCh38]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1519G>T (p.Ala507Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002303490] |
Chr17:6687585 [GRCh38]
Chr17:6590904 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1606G>A (p.Gly536Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002295482] |
Chr17:6686308 [GRCh38]
Chr17:6589627 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.601C>A (p.Arg201=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003098105]|Inborn genetic diseases [RCV002358096] |
Chr17:6703085 [GRCh38]
Chr17:6606404 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1455C>T (p.Leu485=) |
single nucleotide variant |
Inborn genetic diseases [RCV002394691] |
Chr17:6687649 [GRCh38]
Chr17:6590968 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.718T>C (p.Leu240=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003748408]|Inborn genetic diseases [RCV002370786] |
Chr17:6701125 [GRCh38]
Chr17:6604444 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1576-4C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003586362]|Inborn genetic diseases [RCV002405715] |
Chr17:6686342 [GRCh38]
Chr17:6589661 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_177550.5(SLC13A5):c.1414T>C (p.Phe472Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002301245] |
Chr17:6690802 [GRCh38]
Chr17:6594121 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.21T>A (p.Tyr7Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002425726] |
Chr17:6713313 [GRCh38]
Chr17:6616632 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1471A>C (p.Met491Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003014836] |
Chr17:6687633 [GRCh38]
Chr17:6590952 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1181C>T (p.Pro394Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002967958] |
Chr17:6693138 [GRCh38]
Chr17:6596457 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.781A>G (p.Met261Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002991506] |
Chr17:6701062 [GRCh38]
Chr17:6604381 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1573A>C (p.Met525Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002991531] |
Chr17:6687531 [GRCh38]
Chr17:6590850 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1622T>C (p.Phe541Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003013810] |
Chr17:6686292 [GRCh38]
Chr17:6589611 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.732C>T (p.Ser244=) |
single nucleotide variant |
not provided [RCV002511856] |
Chr17:6701111 [GRCh38]
Chr17:6604430 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.368+15T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002948253] |
Chr17:6706627 [GRCh38]
Chr17:6609946 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.102+11T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002863777] |
Chr17:6713221 [GRCh38]
Chr17:6616540 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.102+9C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002863401] |
Chr17:6713223 [GRCh38]
Chr17:6616542 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.717-18G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003014969] |
Chr17:6701144 [GRCh38]
Chr17:6604463 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.98C>A (p.Ala33Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002947602] |
Chr17:6713236 [GRCh38]
Chr17:6616555 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.417C>T (p.Ile139=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002870962] |
Chr17:6704008 [GRCh38]
Chr17:6607327 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.232-5T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002848026] |
Chr17:6706783 [GRCh38]
Chr17:6610102 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.279C>T (p.Gly93=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002914415] |
Chr17:6706731 [GRCh38]
Chr17:6610050 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1156+3A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002571698] |
Chr17:6694094 [GRCh38]
Chr17:6597413 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.839+7T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002825391] |
Chr17:6700997 [GRCh38]
Chr17:6604316 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.648C>T (p.Ala216=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003021938] |
Chr17:6703038 [GRCh38]
Chr17:6606357 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.426G>C (p.Thr142=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002889660] |
Chr17:6703999 [GRCh38]
Chr17:6607318 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-3C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002953743] |
Chr17:6687669 [GRCh38]
Chr17:6590988 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.723T>G (p.Phe241Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002736556] |
Chr17:6701120 [GRCh38]
Chr17:6604439 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.548-16G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002999565] |
Chr17:6703154 [GRCh38]
Chr17:6606473 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1015C>A (p.Pro339Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003052947] |
Chr17:6695766 [GRCh38]
Chr17:6599085 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1156+5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002923350] |
Chr17:6694092 [GRCh38]
Chr17:6597411 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.822T>C (p.Phe274=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002637752] |
Chr17:6701021 [GRCh38]
Chr17:6604340 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.89T>C (p.Leu30Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002824686] |
Chr17:6713245 [GRCh38]
Chr17:6616564 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1052C>A (p.Thr351Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002913777] |
Chr17:6695729 [GRCh38]
Chr17:6599048 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.393C>T (p.Val131=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002706511] |
Chr17:6704032 [GRCh38]
Chr17:6607351 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.758G>A (p.Trp253Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002949386] |
Chr17:6701085 [GRCh38]
Chr17:6604404 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1349T>C (p.Leu450Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002638388] |
Chr17:6690867 [GRCh38]
Chr17:6594186 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1137C>T (p.Phe379=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002781299] |
Chr17:6694116 [GRCh38]
Chr17:6597435 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1412del (p.Leu471fs) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV002705962] |
Chr17:6690804 [GRCh38]
Chr17:6594123 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.234G>A (p.Val78=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002847817] |
Chr17:6706776 [GRCh38]
Chr17:6610095 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.454G>C (p.Val152Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002796084] |
Chr17:6703971 [GRCh38]
Chr17:6607290 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.548-11G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002796107] |
Chr17:6703149 [GRCh38]
Chr17:6606468 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.221A>G (p.Asp74Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002999689] |
Chr17:6707038 [GRCh38]
Chr17:6610357 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.715G>A (p.Glu239Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002824901] |
Chr17:6702971 [GRCh38]
Chr17:6606290 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1157-68GT[12] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV002912800] |
Chr17:6693179..6693206 [GRCh38]
Chr17:6596498..6596525 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1437G>A (p.Met479Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003077237] |
Chr17:6690779 [GRCh38]
Chr17:6594098 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.215T>C (p.Ile72Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002949143] |
Chr17:6707044 [GRCh38]
Chr17:6610363 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1241T>C (p.Leu414Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002958321] |
Chr17:6693078 [GRCh38]
Chr17:6596397 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.85_101delinsT (p.Ile29fs) |
indel |
Developmental and epileptic encephalopathy, 25 [RCV003026176] |
Chr17:6713233..6713249 [GRCh38]
Chr17:6616552..6616568 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1575+8A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003022522] |
Chr17:6687521 [GRCh38]
Chr17:6590840 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1622T>G (p.Phe541Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003022527] |
Chr17:6686292 [GRCh38]
Chr17:6589611 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.252G>A (p.Lys84=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003043483] |
Chr17:6706758 [GRCh38]
Chr17:6610077 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.548-16G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002875908] |
Chr17:6703154 [GRCh38]
Chr17:6606473 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1437+20G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002643943] |
Chr17:6690759 [GRCh38]
Chr17:6594078 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1348T>C (p.Leu450=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003040278] |
Chr17:6690868 [GRCh38]
Chr17:6594187 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.103-14G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002872014] |
Chr17:6707170 [GRCh38]
Chr17:6610489 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1071C>T (p.Ala357=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002828673] |
Chr17:6694182 [GRCh38]
Chr17:6597501 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1356G>A (p.Leu452=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002786668] |
Chr17:6690860 [GRCh38]
Chr17:6594179 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-4G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002851498] |
Chr17:6687670 [GRCh38]
Chr17:6590989 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.627C>T (p.Thr209=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003084769] |
Chr17:6703059 [GRCh38]
Chr17:6606378 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1189C>T (p.Leu397=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003056702] |
Chr17:6693130 [GRCh38]
Chr17:6596449 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.414G>A (p.Trp138Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002871768] |
Chr17:6704011 [GRCh38]
Chr17:6607330 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1585G>A (p.Gly529Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003023781] |
Chr17:6686329 [GRCh38]
Chr17:6589648 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1098G>A (p.Leu366=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002985383] |
Chr17:6694155 [GRCh38]
Chr17:6597474 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1575+4A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002594586] |
Chr17:6687525 [GRCh38]
Chr17:6590844 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.840-2A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002890621] |
Chr17:6695943 [GRCh38]
Chr17:6599262 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.1457A>G (p.Asn486Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003057979] |
Chr17:6687647 [GRCh38]
Chr17:6590966 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.548-20C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002700892] |
Chr17:6703158 [GRCh38]
Chr17:6606477 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.548-1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002893919]|Inborn genetic diseases [RCV002893918] |
Chr17:6703139 [GRCh38]
Chr17:6606458 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.1258C>G (p.Leu420Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002766360] |
Chr17:6693061 [GRCh38]
Chr17:6596380 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003023074] |
Chr17:6703922 [GRCh38]
Chr17:6607241 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1157-68GT[8] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV003022657] |
Chr17:6693179..6693214 [GRCh38]
Chr17:6596498..6596533 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.943G>A (p.Ala315Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002640779] |
Chr17:6695838 [GRCh38]
Chr17:6599157 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.356C>A (p.Ala119Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003083467] |
Chr17:6706654 [GRCh38]
Chr17:6609973 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.369-19C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002647610] |
Chr17:6704075 [GRCh38]
Chr17:6607394 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1097T>C (p.Leu366Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003063869] |
Chr17:6694156 [GRCh38]
Chr17:6597475 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.451A>G (p.Ile151Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003061413] |
Chr17:6703974 [GRCh38]
Chr17:6607293 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1423A>G (p.Ile475Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002900386] |
Chr17:6690793 [GRCh38]
Chr17:6594112 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.435G>A (p.Thr145=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002602635] |
Chr17:6703990 [GRCh38]
Chr17:6607309 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1276-9G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003049464] |
Chr17:6690949 [GRCh38]
Chr17:6594268 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.839+16T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002714868] |
Chr17:6700988 [GRCh38]
Chr17:6604307 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.807G>T (p.Trp269Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002577843] |
Chr17:6701036 [GRCh38]
Chr17:6604355 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.561T>C (p.Ile187=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003086805] |
Chr17:6703125 [GRCh38]
Chr17:6606444 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1093A>C (p.Thr365Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002832890] |
Chr17:6694160 [GRCh38]
Chr17:6597479 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.949A>T (p.Ile317Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002647927] |
Chr17:6695832 [GRCh38]
Chr17:6599151 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.291C>T (p.Ala97=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002933942] |
Chr17:6706719 [GRCh38]
Chr17:6610038 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1126A>G (p.Lys376Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003088660] |
Chr17:6694127 [GRCh38]
Chr17:6597446 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.168G>A (p.Leu56=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002580489] |
Chr17:6707091 [GRCh38]
Chr17:6610410 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-2A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003026367] |
Chr17:6687668 [GRCh38]
Chr17:6590987 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.1643G>A (p.Gly548Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003090818] |
Chr17:6686271 [GRCh38]
Chr17:6589590 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.312C>T (p.Asn104=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002632818] |
Chr17:6706698 [GRCh38]
Chr17:6610017 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.231+20C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002988516] |
Chr17:6707008 [GRCh38]
Chr17:6610327 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.548-14T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003045535] |
Chr17:6703152 [GRCh38]
Chr17:6606471 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.547+6C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003028440] |
Chr17:6703872 [GRCh38]
Chr17:6607191 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.8C>G (p.Ser3Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002721554] |
Chr17:6713326 [GRCh38]
Chr17:6616645 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1252T>A (p.Phe418Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003052373] |
Chr17:6693067 [GRCh38]
Chr17:6596386 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.872G>A (p.Ser291Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002815019] |
Chr17:6695909 [GRCh38]
Chr17:6599228 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.716+14C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003068875] |
Chr17:6702956 [GRCh38]
Chr17:6606275 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.903G>A (p.Val301=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003066134] |
Chr17:6695878 [GRCh38]
Chr17:6599197 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.436G>C (p.Ala146Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002721962] |
Chr17:6703989 [GRCh38]
Chr17:6607308 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.21T>C (p.Tyr7=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002605777] |
Chr17:6713313 [GRCh38]
Chr17:6616632 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.90G>A (p.Leu30=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002721989] |
Chr17:6713244 [GRCh38]
Chr17:6616563 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.882C>A (p.Asn294Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002584901] |
Chr17:6695899 [GRCh38]
Chr17:6599218 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.303G>A (p.Glu101=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV002610936] |
Chr17:6706707 [GRCh38]
Chr17:6610026 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1053A>G (p.Thr351=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003066986] |
Chr17:6695728 [GRCh38]
Chr17:6599047 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1341C>T (p.Ala447=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003071037] |
Chr17:6690875 [GRCh38]
Chr17:6594194 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1321C>T (p.His441Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003193630] |
Chr17:6690895 [GRCh38]
Chr17:6594214 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1159A>G (p.Arg387Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003136724] |
Chr17:6693160 [GRCh38]
Chr17:6596479 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 |
copy number gain |
Chromosome 17p13.3 duplication syndrome [RCV003327726] |
Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12 |
pathogenic |
| GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0 |
copy number loss |
Developmental and epileptic encephalopathy, 25 [RCV003327636] |
Chr17:6690682..6696039 [GRCh38]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1175A>G (p.Tyr392Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003340014] |
Chr17:6693144 [GRCh38]
Chr17:6596463 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.54C>G (p.Phe18Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003357035] |
Chr17:6713280 [GRCh38]
Chr17:6616599 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.243G>C (p.Gln81His) |
single nucleotide variant |
Inborn genetic diseases [RCV003386440] |
Chr17:6706767 [GRCh38]
Chr17:6610086 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1206C>G (p.Thr402=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003586424]|not provided [RCV003457262] |
Chr17:6693113 [GRCh38]
Chr17:6596432 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.424A>G (p.Thr142Ala) |
single nucleotide variant |
SLC13A5-related disorder [RCV003404178] |
Chr17:6704001 [GRCh38]
Chr17:6607320 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1686T>C (p.Asn562=) |
single nucleotide variant |
not provided [RCV003428088] |
Chr17:6686228 [GRCh38]
Chr17:6589547 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.156A>G (p.Glu52=) |
single nucleotide variant |
not provided [RCV003428089] |
Chr17:6707103 [GRCh38]
Chr17:6610422 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.716+19C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003827984] |
Chr17:6702951 [GRCh38]
Chr17:6606270 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.454G>A (p.Val152Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003493156] |
Chr17:6703971 [GRCh38]
Chr17:6607290 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.547+19C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003879468] |
Chr17:6703859 [GRCh38]
Chr17:6607178 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.366A>G (p.Ala122=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003748922] |
Chr17:6706644 [GRCh38]
Chr17:6609963 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.60C>G (p.Thr20=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003748999] |
Chr17:6713274 [GRCh38]
Chr17:6616593 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.717G>A (p.Glu239=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003748966] |
Chr17:6701126 [GRCh38]
Chr17:6604445 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.522C>T (p.Asp174=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749473] |
Chr17:6703903 [GRCh38]
Chr17:6607222 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.368+16C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749615] |
Chr17:6706626 [GRCh38]
Chr17:6609945 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.267G>C (p.Leu89=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749778] |
Chr17:6706743 [GRCh38]
Chr17:6610062 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1055+10G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003750231] |
Chr17:6695716 [GRCh38]
Chr17:6599035 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-19C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003586497] |
Chr17:6687685 [GRCh38]
Chr17:6591004 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.103-20C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003586499] |
Chr17:6707176 [GRCh38]
Chr17:6610495 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1383G>A (p.Glu461=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749340] |
Chr17:6690833 [GRCh38]
Chr17:6594152 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1056-15C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749370] |
Chr17:6694212 [GRCh38]
Chr17:6597531 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1156+1_1156+5del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV003750064] |
Chr17:6694092..6694096 [GRCh38]
Chr17:6597411..6597415 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.858C>T (p.Gly286=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749622] |
Chr17:6695923 [GRCh38]
Chr17:6599242 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1624T>C (p.Leu542=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003750094] |
Chr17:6686290 [GRCh38]
Chr17:6589609 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.657G>A (p.Gly219=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749176] |
Chr17:6703029 [GRCh38]
Chr17:6606348 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.646del (p.Ala216fs) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV003749329] |
Chr17:6703040 [GRCh38]
Chr17:6606359 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1182T>A (p.Pro394=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749345] |
Chr17:6693137 [GRCh38]
Chr17:6596456 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.48C>T (p.Ile16=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749920] |
Chr17:6713286 [GRCh38]
Chr17:6616605 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-68GT[38] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV003750076] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.271C>T (p.Leu91=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749035] |
Chr17:6706739 [GRCh38]
Chr17:6610058 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1403C>A (p.Thr468Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749036] |
Chr17:6690813 [GRCh38]
Chr17:6594132 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.72G>A (p.Leu24=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003749465] |
Chr17:6713262 [GRCh38]
Chr17:6616581 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.812G>A (p.Trp271Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003847776] |
Chr17:6701031 [GRCh38]
Chr17:6604350 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.570C>A (p.Gly190=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587313] |
Chr17:6703116 [GRCh38]
Chr17:6606435 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.378G>C (p.Leu126=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587644] |
Chr17:6704047 [GRCh38]
Chr17:6607366 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-16T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587369] |
Chr17:6693178 [GRCh38]
Chr17:6596497 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.793C>T (p.Leu265=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587599] |
Chr17:6701050 [GRCh38]
Chr17:6604369 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.629T>C (p.Leu210Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587714] |
Chr17:6703057 [GRCh38]
Chr17:6606376 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.816C>T (p.Leu272=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003586865] |
Chr17:6701027 [GRCh38]
Chr17:6604346 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.15_19del (p.Ser6fs) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV003587880] |
Chr17:6713315..6713319 [GRCh38]
Chr17:6616634..6616638 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1275+9T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003859348] |
Chr17:6693035 [GRCh38]
Chr17:6596354 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.548-13G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003872435] |
Chr17:6703151 [GRCh38]
Chr17:6606470 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1484C>T (p.Thr495Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587964]|not provided [RCV004780592] |
Chr17:6687620 [GRCh38]
Chr17:6590939 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1157-68GT[9] |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV003586859] |
Chr17:6693179..6693212 [GRCh38]
Chr17:6596498..6596531 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.716+15G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587290] |
Chr17:6702955 [GRCh38]
Chr17:6606274 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.839+8T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003748005] |
Chr17:6700996 [GRCh38]
Chr17:6604315 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.102+19C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003748614] |
Chr17:6713213 [GRCh38]
Chr17:6616532 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-19_1157-18insTGTA |
insertion |
Developmental and epileptic encephalopathy, 25 [RCV003587914] |
Chr17:6693180..6693181 [GRCh38]
Chr17:6596499..6596500 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.231+12C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003747962] |
Chr17:6707016 [GRCh38]
Chr17:6610335 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.561T>A (p.Ile187=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003748021] |
Chr17:6703125 [GRCh38]
Chr17:6606444 [GRCh37]
Chr17:17p13.1 |
likely benign |
| GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 |
copy number gain |
not specified [RCV003987215] |
Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2 |
pathogenic |
| NM_177550.5(SLC13A5):c.570C>T (p.Gly190=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003747831] |
Chr17:6703116 [GRCh38]
Chr17:6606435 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1437+20G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003747864] |
Chr17:6690759 [GRCh38]
Chr17:6594078 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1276-15C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003748715] |
Chr17:6690955 [GRCh38]
Chr17:6594274 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.450C>T (p.Pro150=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003748122] |
Chr17:6703975 [GRCh38]
Chr17:6607294 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1156+7C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587365] |
Chr17:6694090 [GRCh38]
Chr17:6597409 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.102+20A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587625] |
Chr17:6713212 [GRCh38]
Chr17:6616531 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1371C>T (p.Ala457=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587742] |
Chr17:6690845 [GRCh38]
Chr17:6594164 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1242A>G (p.Leu414=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003586611] |
Chr17:6693077 [GRCh38]
Chr17:6596396 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1096del (p.Leu366fs) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV003586749] |
Chr17:6694157 [GRCh38]
Chr17:6597476 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.368+9G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587979] |
Chr17:6706633 [GRCh38]
Chr17:6609952 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.66C>T (p.Leu22=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587212] |
Chr17:6713268 [GRCh38]
Chr17:6616587 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.368+12T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV003587262] |
Chr17:6706630 [GRCh38]
Chr17:6609949 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1247del (p.Gly416fs) |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV003994688] |
Chr17:6693072 [GRCh38]
Chr17:6596391 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.643G>T (p.Ala215Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004456363] |
Chr17:6703043 [GRCh38]
Chr17:6606362 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.71T>G (p.Leu24Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004456365] |
Chr17:6713263 [GRCh38]
Chr17:6616582 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.121G>A (p.Val41Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004456360] |
Chr17:6707138 [GRCh38]
Chr17:6610457 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1324G>A (p.Ala442Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004456361] |
Chr17:6690892 [GRCh38]
Chr17:6594211 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1399G>A (p.Ala467Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004456362] |
Chr17:6690817 [GRCh38]
Chr17:6594136 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.70C>G (p.Leu24Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004456364] |
Chr17:6713264 [GRCh38]
Chr17:6616583 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_6609941)_(6616652_?)del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV004581342] |
Chr17:6609941..6616652 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_6607177)_(6610495_?)del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV004581343] |
Chr17:6607177..6610495 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_6526182)_(6599280_?)del |
deletion |
not provided [RCV004581421] |
Chr17:6526182..6599280 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_422368)_(8285628_?)dup |
duplication |
not provided [RCV004581443] |
Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1226G>A (p.Gly409Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004676516] |
Chr17:6693093 [GRCh38]
Chr17:6596412 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1157-1G>T |
single nucleotide variant |
not provided [RCV004575347] |
Chr17:6693163 [GRCh38]
Chr17:6596482 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.181C>A (p.Leu61Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004670105] |
Chr17:6707078 [GRCh38]
Chr17:6610397 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.839+8T>G |
single nucleotide variant |
not provided [RCV004721754] |
Chr17:6700996 [GRCh38]
Chr17:6604315 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.116C>T (p.Ala39Val) |
single nucleotide variant |
not provided [RCV004723909] |
Chr17:6707143 [GRCh38]
Chr17:6610462 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.368+1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV004767638] |
Chr17:6706641 [GRCh38]
Chr17:6609960 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.970T>G (p.Phe324Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004957845] |
Chr17:6695811 [GRCh38]
Chr17:6599130 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1333C>T (p.Pro445Ser) |
single nucleotide variant |
not provided [RCV004997651] |
Chr17:6690883 [GRCh38]
Chr17:6594202 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.2-12(chr17:4678235-14745263)x3 |
copy number gain |
not provided [RCV004819316] |
Chr17:4678235..14745263 [GRCh37]
Chr17:17p13.2-12 |
pathogenic |
| GRCh37/hg19 17p13.1(chr17:6582594-6865997)x1 |
copy number loss |
not provided [RCV004819892] |
Chr17:6582594..6865997 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_177550.5(SLC13A5):c.1152G>A (p.Glu384=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005084802] |
Chr17:6694101 [GRCh38]
Chr17:6597420 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1461G>T (p.Pro487=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005146262] |
Chr17:6687643 [GRCh38]
Chr17:6590962 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.231+20C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005064023] |
Chr17:6707008 [GRCh38]
Chr17:6610327 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1674T>C (p.Pro558=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005195960] |
Chr17:6686240 [GRCh38]
Chr17:6589559 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1437+11T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005145086] |
Chr17:6690768 [GRCh38]
Chr17:6594087 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.716+14C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005185583] |
Chr17:6702956 [GRCh38]
Chr17:6606275 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1218G>A (p.Val406=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005133887] |
Chr17:6693101 [GRCh38]
Chr17:6596420 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1354_1358dup (p.Leu454fs) |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV005122936] |
Chr17:6690857..6690858 [GRCh38]
Chr17:6594176..6594177 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.951C>A (p.Ile317=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005137053] |
Chr17:6695830 [GRCh38]
Chr17:6599149 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.840-9A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005071122] |
Chr17:6695950 [GRCh38]
Chr17:6599269 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1156+10C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005080888] |
Chr17:6694087 [GRCh38]
Chr17:6597406 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-17_1157-16insTGTGTGT |
insertion |
Developmental and epileptic encephalopathy, 25 [RCV005135165] |
Chr17:6693178..6693179 [GRCh38]
Chr17:6596497..6596498 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1437+1G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005148741] |
Chr17:6690778 [GRCh38]
Chr17:6594097 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.1707G>A (p.Ter569=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005077819] |
Chr17:6686207 [GRCh38]
Chr17:6589526 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.716+11G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005144707] |
Chr17:6702959 [GRCh38]
Chr17:6606278 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.839+18A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005165059] |
Chr17:6700986 [GRCh38]
Chr17:6604305 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1464G>A (p.Leu488=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005167700] |
Chr17:6687640 [GRCh38]
Chr17:6590959 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.780C>T (p.Asn260=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005142095] |
Chr17:6701063 [GRCh38]
Chr17:6604382 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.806G>A (p.Trp269Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005139179] |
Chr17:6701037 [GRCh38]
Chr17:6604356 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.1113T>C (p.Pro371=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005203442] |
Chr17:6694140 [GRCh38]
Chr17:6597459 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.716+11G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005161489] |
Chr17:6702959 [GRCh38]
Chr17:6606278 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1438-1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005121484] |
Chr17:6687667 [GRCh38]
Chr17:6590986 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_177550.5(SLC13A5):c.716+18C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005080712] |
Chr17:6702952 [GRCh38]
Chr17:6606271 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1157-5C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005151512] |
Chr17:6693167 [GRCh38]
Chr17:6596486 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.717-4G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005205501] |
Chr17:6701130 [GRCh38]
Chr17:6604449 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1698T>C (p.Ile566=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005126246] |
Chr17:6686216 [GRCh38]
Chr17:6589535 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1055+18T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005128585] |
Chr17:6695708 [GRCh38]
Chr17:6599027 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.1101A>T (p.Leu367=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005070766] |
Chr17:6694152 [GRCh38]
Chr17:6597471 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.232-4C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005155342] |
Chr17:6706782 [GRCh38]
Chr17:6610101 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.894C>T (p.Ala298=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005184036] |
Chr17:6695887 [GRCh38]
Chr17:6599206 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_177550.5(SLC13A5):c.395_396del (p.Thr132fs) |
microsatellite |
Developmental and epileptic encephalopathy, 25 [RCV005115339] |
Chr17:6704029..6704030 [GRCh38]
Chr17:6607348..6607349 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_177550.5(SLC13A5):c.374T>G (p.Met125Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 25 [RCV005124839] |
Chr17:6704051 [GRCh38]
Chr17:6607370 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
