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39 records found for search term Stard7
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405268752CV3187119single nucleotide variantNM_020151.4(STARD7):c.123C>T (p.Ile41=)not provided [RCV003887203]likely benign29620831296208312Humanname
598250575CV3919432single nucleotide variantNM_020151.4(STARD7):c.23C>G (p.Ala8Gly)not specified [RCV005277735]uncertain significance29620841296208412Humanname
405723023CV3323788single nucleotide variantNM_020151.4(STARD7):c.59T>C (p.Leu20Pro)not specified [RCV004463390]uncertain significance29620837696208376Humanname
408377883CV3500858single nucleotide variantNM_020151.4(STARD7):c.77A>G (p.Gln26Arg)not provided [RCV004722508]likely benign29620835896208358Humanname
153301193CV1689041single nucleotide variantNM_020151.4(STARD7):c.175G>T (p.Gly59Cys)Epilepsy, familial adult myoclonic, 2 [RCV002266769]uncertain significance29620826096208260Human1name
156303721CV2258901single nucleotide variantNM_020151.4(STARD7):c.233C>T (p.Ala78Val)not specified [RCV004118105]uncertain significance29620820296208202Humanname
156046371CV2304265single nucleotide variantNM_020151.4(STARD7):c.256G>C (p.Asp86His)not specified [RCV004164389]uncertain significance29620817996208179Humanname
401861201CV2758800single nucleotide variantNM_020151.4(STARD7):c.146A>G (p.Tyr49Cys)not specified [RCV004337853]uncertain significance29620828996208289Humanname
405279729CV3200087deletionNM_020151.4(STARD7):c.796del (p.Ser266fs)STARD7-related disorder [RCV003977035]uncertain significance29619241696192416Humanname , trait , alternate_id
405723002CV3323785single nucleotide variantNM_020151.4(STARD7):c.259G>A (p.Glu87Lys)not specified [RCV004463387]uncertain significance29620817696208176Humanname
597746830CV3618417single nucleotide variantNM_020151.4(STARD7):c.202C>G (p.Arg68Gly)not specified [RCV004865950]uncertain significance29620823396208233Humanname
151663673CV1334139single nucleotide variantNM_020151.4(STARD7):c.361C>T (p.Pro121Ser)Epilepsy, familial adult myoclonic, 2 [RCV001839313]|not specified [RCV004857814]uncertain significance29619547996195479Human1name
153349181CV1694029single nucleotide variantNM_020151.4(STARD7):c.418C>T (p.Arg140Cys)Epilepsy, familial adult myoclonic, 2 [RCV002275573]|not specified [RCV005266243]uncertain significance29619542296195422Human1name
156227062CV2203182single nucleotide variantNM_020151.4(STARD7):c.887C>T (p.Thr296Met)not specified [RCV004070879]uncertain significance29618725896187258Humanname
156270137CV2276547single nucleotide variantNM_020151.4(STARD7):c.937G>C (p.Asp313His)not specified [RCV004146047]uncertain significance29618690696186906Humanname
156080602CV2301017single nucleotide variantNM_020151.4(STARD7):c.410A>G (p.Lys137Arg)not specified [RCV004158175]uncertain significance29619543096195430Humanname
155975704CV2341588single nucleotide variantNM_020151.4(STARD7):c.899G>A (p.Arg300His)Epilepsy, familial adult myoclonic, 2 [RCV005399194]|not specified [RCV004188974]uncertain significance29618724696187246Human1name
156099143CV2378929single nucleotide variantNM_020151.4(STARD7):c.464G>A (p.Arg155His)not specified [RCV004233362]uncertain significance29619537696195376Humanname
155957663CV2387533single nucleotide variantNM_020151.4(STARD7):c.813G>A (p.Met271Ile)not specified [RCV004240382]uncertain significance29619239996192399Humanname
243061659CV2406499single nucleotide variantNM_020151.4(STARD7):c.542A>G (p.Asn181Ser)Epilepsy, familial adult myoclonic, 2 [RCV003138841]|not specified [RCV004246070]uncertain significance29619496596194965Human1name
329362652CV2438997single nucleotide variantNM_020151.4(STARD7):c.784G>A (p.Val262Ile)not specified [RCV004264505]uncertain significance29619242896192428Humanname
401782994CV2703700single nucleotide variantNM_020151.4(STARD7):c.622A>T (p.Ser208Cys)not specified [RCV004306590]uncertain significance29619328096193280Humanname
401737582CV2718142single nucleotide variantNM_020151.4(STARD7):c.453G>T (p.Lys151Asn)not specified [RCV004315850]uncertain significance29619538796195387Humanname
401742176CV2722161single nucleotide variantNM_020151.4(STARD7):c.820C>T (p.Arg274Cys)not specified [RCV004328413]uncertain significance29619239296192392Humanname
401893541CV2762956single nucleotide variantNM_020151.4(STARD7):c.821G>A (p.Arg274His)not specified [RCV004342704]uncertain significance29619239196192391Humanname
401872777CV2776219single nucleotide variantNM_020151.4(STARD7):c.729G>A (p.Met243Ile)not specified [RCV004353589]uncertain significance29619309296193092Humanname
405723010CV3323786single nucleotide variantNM_020151.4(STARD7):c.508A>G (p.Thr170Ala)not specified [RCV004463388]uncertain significance29619499996194999Humanname
405723016CV3323787single nucleotide variantNM_020151.4(STARD7):c.569A>G (p.Lys190Arg)not specified [RCV004463389]uncertain significance29619333396193333Humanname
405723034CV3323789single nucleotide variantNM_020151.4(STARD7):c.665C>T (p.Pro222Leu)not specified [RCV004463391]uncertain significance29619315696193156Humanname
405723040CV3323790single nucleotide variantNM_020151.4(STARD7):c.913T>C (p.Trp305Arg)not specified [RCV004463392]uncertain significance29618723296187232Humanname
407495818CV3485320single nucleotide variantNM_020151.4(STARD7):c.328A>G (p.Asn110Asp)not specified [RCV004667969]uncertain significance29619551296195512Humanname
407495822CV3485321single nucleotide variantNM_020151.4(STARD7):c.332T>C (p.Met111Thr)not specified [RCV004667970]uncertain significance29619550896195508Humanname
597682793CV3618415single nucleotide variantNM_020151.4(STARD7):c.413A>G (p.Glu138Gly)not specified [RCV004857682]uncertain significance29619542796195427Humanname
597746825CV3618416single nucleotide variantNM_020151.4(STARD7):c.958A>G (p.Met320Val)not specified [RCV004865949]uncertain significance29618688596186885Humanname
597746835CV3618418single nucleotide variantNM_020151.4(STARD7):c.839A>T (p.Asp280Val)not specified [RCV004865951]uncertain significance29619237396192373Humanname
598250569CV3919431single nucleotide variantNM_020151.4(STARD7):c.703A>G (p.Ser235Gly)not specified [RCV005277734]uncertain significance29619311896193118Humanname
126913633CV1037287single nucleotide variantNM_020151.4(STARD7):c.1045G>T (p.Ala349Ser)not provided [RCV001357555]uncertain significance29618679896186798Humanname
401769112CV2697019single nucleotide variantNM_020151.4(STARD7):c.1097G>A (p.Arg366Gln)not specified [RCV004293009]likely benign29618674696186746Humanname
15099279CV622967microsatelliteNM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]Epilepsy, familial adult myoclonic, 2 [RCV000856832]pathogenic29619706696200315Humanname