Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | 46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211), | -1 | COX20;SMYD3;CNST;HNRNPU;EFCAB2;TFB2M;KIF26B;DESI2 | Likely pathogenic | -1 | RCV000714958; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 244867200 | 246816211 | | | | - | | |
Single allele | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002481171; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 242045197 | 249212668 | | | NC_000007.13:g.30999250_31006943delinsAGAGATCCA | - | C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; | |
Single allele | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002481172; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 244464118 | 246720717 | | | NC_000007.13:g.30999250_31006943delinsAGAGATCCA | - | C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; | |
Single allele | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002481168; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245009334 | 245027394 | | | NC_000007.13:g.30999250_31006943delinsAGAGATCCA | - | C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; | |
NC_000001.10:g.(?_245017752)_(245027609_?)dup | 3192 | HNRNPU | Uncertain significance | -1 | RCV001324074|RCV003120551; | N | |MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245017752 | 245027609 | | | -1 | - | | |
NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter) | 3192 | HNRNPU | Pathogenic | 1057524914 | RCV000445557; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245017758 | 245017759 | | | NC_000001.10:g.245017758_245017759delinsTC | ClinGen:CA16609279,OMIM:602869.0001 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.2466A>T (p.Gln822His) | 3192 | HNRNPU | Uncertain significance | 1064796325 | RCV000480911|RCV002526654; | N | MedGen:CN517202|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245017764 | 245017764 | | | 1:g.245017764T>A | ClinGen:CA16617124 | CN169374 not specified; | |
NM_031844.3(HNRNPU):c.2464C>T (p.Gln822Ter) | 3192 | HNRNPU | Benign/Likely benign | 542905297 | RCV001248820|RCV002568692; | N | Human Phenotype Ontology:HP:0011150,MedGen:C4023512|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245017766 | 245017766 | | | 1:g.245017766G>A | - | | |
NM_031844.3(HNRNPU):c.2425-2A>G | 3192 | HNRNPU | Pathogenic | 1553281924 | RCV000677643|RCV001824358; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MedGen:CN517202 | 1 | 245017807 | 245017807 | | | NC_000001.10:g.245017807T>C | - | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.2425-2A>T | 3192 | HNRNPU | Likely pathogenic | 1553281924 | RCV001293774; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245017807 | 245017807 | | | 245017807 | - | | |
NM_031844.3(HNRNPU):c.2425-3C>A | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002481169; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245017808 | 245017808 | | | NC_000001.10:g.245017808G>T | - | | |
NM_031844.3(HNRNPU):c.2425-7C>T | 3192 | HNRNPU | Likely benign | 747537573 | RCV002562637; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245017812 | 245017812 | | | 245017812 | - | | |
NM_031844.3(HNRNPU):c.2425-15_2425-14del | 3192 | HNRNPU | Likely benign | 751856636 | RCV003081003; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245017819 | 245017820 | | | 245017818 | - | | |
NM_031844.3(HNRNPU):c.2424+16T>C | 3192 | HNRNPU | Benign | 537512846 | RCV002539722|RCV001710429; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MedGen:C3661900 | 1 | 245018259 | 245018259 | | | 245018259 | - | | |
NM_031844.3(HNRNPU):c.2424+16T>G | 3192 | HNRNPU | Likely benign | -1 | RCV002824945; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018259 | 245018259 | | | NC_000001.10:g.245018259A>C | - | | |
NM_031844.3(HNRNPU):c.2421G>C (p.Gln807His) | 3192 | HNRNPU | Likely benign | 2102984647 | RCV002561639; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018278 | 245018278 | | | 245018278 | - | | |
NM_031844.3(HNRNPU):c.2408A>G (p.Asn803Ser) | 3192 | HNRNPU | Uncertain significance | 1553282000 | RCV000515632|RCV000555674; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391| | 1 | 245018291 | 245018291 | | | NC_000001.10:g.245018291T>C | ClinGen:CA345486658 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.2403C>T (p.Gly801=) | 3192 | HNRNPU | Likely benign | 2102984661 | RCV002564137; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018296 | 245018296 | | | 245018296 | - | | |
NM_031844.3(HNRNPU):c.2394A>G (p.Gln798=) | 3192 | HNRNPU | Likely benign | -1 | RCV002953334; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018305 | 245018305 | | | | - | | |
NM_031844.3(HNRNPU):c.2390dup (p.Asn797fs) | 3192 | HNRNPU | Uncertain significance | 2102984672 | RCV002548193; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018308 | 245018309 | | | 245018308 | - | | |
NM_031844.3(HNRNPU):c.2391T>C (p.Asn797=) | 3192 | HNRNPU | Likely benign | -1 | RCV002711035; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018308 | 245018308 | | | | - | | |
NM_031844.3(HNRNPU):c.2390A>G (p.Asn797Ser) | 3192 | HNRNPU | Likely benign | -1 | RCV003082463; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018309 | 245018309 | | | NC_000001.10:g.245018309T>C | - | | |
NM_031844.3(HNRNPU):c.2375A>G (p.Asn792Ser) | 3192 | HNRNPU | Likely benign | 748194079 | RCV002551609; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018324 | 245018324 | | | 245018324 | - | | |
NM_031844.3(HNRNPU):c.2374A>C (p.Asn792His) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002976124|RCV003418690; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MedGen:C3661900 | 1 | 245018325 | 245018325 | | | NC_000001.10:g.245018325T>G | - | | |
NM_031844.3(HNRNPU):c.2359A>C (p.Arg787=) | 3192 | HNRNPU | Likely benign | 1232065158 | RCV002553682; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018340 | 245018340 | | | 245018340 | - | | |
NM_031844.3(HNRNPU):c.2353-16_2353-15delinsAG | 3192 | HNRNPU | Likely benign | -1 | RCV002628238; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018361 | 245018362 | | | NC_000001.10:g.245018361_245018362delinsCT | - | | |
NM_031844.3(HNRNPU):c.2353-22_2353-17del | 3192 | HNRNPU | Likely benign | 1454005442 | RCV003053378; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018363 | 245018368 | | | 245018362 | - | | |
NM_031844.3(HNRNPU):c.2353-22AG[2] | 3192 | HNRNPU | Likely benign | 1558185713 | RCV002562297; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018363 | 245018364 | | | 245018362 | - | | |
NM_031844.3(HNRNPU):c.2353-17G>A | 3192 | HNRNPU | Likely benign | -1 | RCV003035036; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018363 | 245018363 | | | NC_000001.10:g.245018363C>T | - | | |
NM_031844.3(HNRNPU):c.2352+17C>G | 3192 | HNRNPU | Likely benign | -1 | RCV003025711; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018709 | 245018709 | | | NC_000001.10:g.245018709G>C | - | | |
NM_031844.3(HNRNPU):c.2352+14A>T | 3192 | HNRNPU | Benign | 57080269 | RCV001707980|RCV002539718; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018712 | 245018712 | | | 245018712 | - | | |
NM_031844.3(HNRNPU):c.2352+12A>G | 3192 | HNRNPU | Likely benign | 766741192 | RCV003015331; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018714 | 245018714 | | | 245018714 | - | | |
NM_031844.3(HNRNPU):c.2352+10C>G | 3192 | HNRNPU | Likely benign | -1 | RCV002929129; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018716 | 245018716 | | | NC_000001.10:g.245018716G>C | - | | |
NM_031844.3(HNRNPU):c.2350C>G (p.Gln784Glu) | 3192 | HNRNPU | Likely benign | 372614557 | RCV002552442; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018728 | 245018728 | | | 1:g.245018728G>C | - | | |
NM_031844.3(HNRNPU):c.2347A>T (p.Asn783Tyr) | 3192 | HNRNPU | Uncertain significance | 925350951 | RCV002573378; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018731 | 245018731 | | | 245018731 | - | | |
NM_031844.3(HNRNPU):c.2347A>C (p.Asn783His) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002811657; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018731 | 245018731 | | | NC_000001.10:g.245018731T>G | - | | |
NM_031844.3(HNRNPU):c.2342A>C (p.Asn781Thr) | 3192 | HNRNPU | Likely benign | -1 | RCV002839249; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018736 | 245018736 | | | NC_000001.10:g.245018736T>G | - | | |
NM_031844.3(HNRNPU):c.2341A>G (p.Asn781Asp) | 3192 | HNRNPU | Uncertain significance | 377250459 | RCV002442730|RCV002534862; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018737 | 245018737 | | | 1:g.245018737T>C | - | | |
NM_031844.3(HNRNPU):c.2322_2339del (p.Gly775_Gly780del) | 3192 | HNRNPU | Uncertain significance | 1385034915 | RCV002554338; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018739 | 245018756 | | | 245018738 | - | | |
NM_031844.3(HNRNPU):c.2334C>T (p.Asn778=) | 3192 | HNRNPU | Likely benign | 1334935365 | RCV002561987; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018744 | 245018744 | | | 245018744 | - | | |
NM_031844.3(HNRNPU):c.2333A>G (p.Asn778Ser) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002610540|RCV003334077; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MedGen:C3661900 | 1 | 245018745 | 245018745 | | | NC_000001.10:g.245018745T>C | - | | |
NM_031844.3(HNRNPU):c.2328G>T (p.Met776Ile) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002616578; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018750 | 245018750 | | | NC_000001.10:g.245018750C>A | - | | |
NM_031844.3(HNRNPU):c.2313C>T (p.Tyr771=) | 3192 | HNRNPU | Likely benign | 201310004 | RCV002432339|RCV002562008; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018765 | 245018765 | | | 245018765 | - | | |
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) | 3192 | HNRNPU | Pathogenic/Likely pathogenic | 794729648 | RCV000185558|RCV002247599; | N | MedGen:CN231403|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018773 | 245018774 | | | NC_000001.10:g.245018773CT[1] | ClinGen:CA090943 | CN231403 Intellectual disability and seizures; | |
NM_031844.3(HNRNPU):c.2295_2298del (p.Ser764_Tyr765insTer) | 3192 | HNRNPU | Pathogenic | -1 | RCV003459004; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018780 | 245018783 | | | | - | | |
NM_031844.3(HNRNPU):c.2296T>G (p.Ser766Ala) | 3192 | HNRNPU | Benign | 746732226 | RCV002657680; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018782 | 245018782 | | | 245018782 | - | | |
NM_031844.3(HNRNPU):c.2291_2294dup (p.Tyr765Ter) | 3192 | HNRNPU | Pathogenic | 2102984978 | RCV003104068; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018783 | 245018784 | | | 245018783 | - | | |
NM_031844.3(HNRNPU):c.2284C>T (p.Arg762Cys) | 3192 | HNRNPU | Likely benign | 540601048 | RCV002560494; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018794 | 245018794 | | | 245018794 | - | | |
NM_031844.3(HNRNPU):c.2274T>G (p.Val758=) | 3192 | HNRNPU | Likely benign | 748148223 | RCV003007065; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018804 | 245018804 | | | 245018804 | - | | |
NM_031844.3(HNRNPU):c.2269C>T (p.Pro757Ser) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 921745963 | RCV001575572|RCV002570804; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018809 | 245018809 | | | 245018809 | - | | |
NM_031844.3(HNRNPU):c.2268C>T (p.Ala756=) | 3192 | HNRNPU | Likely benign | -1 | RCV002875547; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018810 | 245018810 | | | | - | | |
NM_031844.3(HNRNPU):c.2263C>T (p.Arg755Cys) | 3192 | HNRNPU | Likely benign | 934976347 | RCV002547137; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018815 | 245018815 | | | NC_000001.10:g.245018815G>A | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.2256_2260del (p.Tyr753fs) | 3192 | HNRNPU | Pathogenic | 2102985018 | RCV003104066; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018818 | 245018822 | | | 245018817 | - | | |
NM_031844.3(HNRNPU):c.2256A>G (p.Pro752=) | 3192 | HNRNPU | Likely benign | 1558185970 | RCV003089008; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018822 | 245018822 | | | 245018822 | - | | |
NM_031844.3(HNRNPU):c.2252A>G (p.Tyr751Cys) | 3192 | HNRNPU | Uncertain significance | 772644265 | RCV002571346; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018826 | 245018826 | | | 245018826 | - | | |
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 1360721056 | RCV000540809|RCV001839010|RCV002431475; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245018830 | 245018830 | | | NC_000001.10:g.245018830C>T | ClinGen:CA345487022 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.2247C>T (p.Ile749=) | 3192 | HNRNPU | Likely benign | 1060504188 | RCV000473449; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018831 | 245018831 | | | 1:g.245018831G>A | ClinGen:CA16610092 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.2232_2240del (p.Ser746_Gly748del) | 3192 | HNRNPU | Uncertain significance | 1278935326 | RCV002543085; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018838 | 245018846 | | | 245018837 | - | | |
NM_031844.3(HNRNPU):c.2237G>T (p.Ser746Ile) | 3192 | HNRNPU | Benign | 1051595756 | RCV002545700; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018841 | 245018841 | | | 245018841 | - | | |
NM_031844.3(HNRNPU):c.2236A>G (p.Ser746Gly) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002819891; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018842 | 245018842 | | | NC_000001.10:g.245018842T>C | - | | |
NM_031844.3(HNRNPU):c.2227G>A (p.Gly743Ser) | 3192 | HNRNPU | Uncertain significance | 144984907 | RCV002547524; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018851 | 245018851 | | | 245018851 | - | | |
NM_031844.3(HNRNPU):c.2226C>T (p.Gly742=) | 3192 | HNRNPU | Likely benign | 759916978 | RCV002546018; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018852 | 245018852 | | | 1:g.245018852G>A | - | | |
NM_031844.3(HNRNPU):c.2210dup (p.Gln738fs) | 3192 | HNRNPU | Pathogenic | 2102985060 | RCV002561486; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018867 | 245018868 | | | 245018867 | - | | |
NM_031844.3(HNRNPU):c.2206A>G (p.Met736Val) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003048342; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018872 | 245018872 | | | NC_000001.10:g.245018872T>C | - | | |
NM_031844.3(HNRNPU):c.2204A>G (p.Asn735Ser) | 3192 | HNRNPU | Benign | 1254900423 | RCV003081096; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018874 | 245018874 | | | 245018874 | - | | |
NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=) | 3192 | HNRNPU | Benign/Likely benign | 372228779 | RCV001675904|RCV002429586|RCV002526477; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018885 | 245018885 | | | NC_000001.10:g.245018885A>G | ClinGen:CA1486283 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.2184C>T (p.Gly728=) | 3192 | HNRNPU | Likely benign | 367547431 | RCV002538971; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018894 | 245018894 | | | 1:g.245018894G>A | - | | |
NM_031844.3(HNRNPU):c.2184C>A (p.Gly728=) | 3192 | HNRNPU | Likely benign | -1 | RCV002837657; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018894 | 245018894 | | | | - | | |
NM_031844.3(HNRNPU):c.2175del (p.Asn726fs) | 3192 | HNRNPU | Uncertain significance | 2102985099 | RCV002592656; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018903 | 245018903 | | | 245018902 | - | | |
NM_031844.3(HNRNPU):c.2175G>A (p.Gly725=) | 3192 | HNRNPU | Likely benign | -1 | RCV003029996; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018903 | 245018903 | | | | - | | |
NM_031844.3(HNRNPU):c.2170C>T (p.Pro724Ser) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002649650; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018908 | 245018908 | | | NC_000001.10:g.245018908G>A | - | | |
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) | 3192 | HNRNPU | Benign/Likely benign | 11537737 | RCV000516452|RCV002311785|RCV002525656; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018909 | 245018909 | | | NC_000001.10:g.245018909G>A | ClinGen:CA1486287 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.2168C>T (p.Ala723Val) | 3192 | HNRNPU | Uncertain significance | 1680658254 | RCV002561832; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018910 | 245018910 | | | 1:g.245018910G>A | - | | |
NM_031844.3(HNRNPU):c.2168C>G (p.Ala723Gly) | 3192 | HNRNPU | Uncertain significance | 1680658254 | RCV002563509; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018910 | 245018910 | | | 245018910 | - | | |
NM_031844.3(HNRNPU):c.2168-1del | 3192 | HNRNPU | Likely pathogenic | 2102985115 | RCV003104057; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018911 | 245018911 | | | 245018910 | - | | |
NM_031844.3(HNRNPU):c.2168-6T>A | 3192 | HNRNPU | Benign | 1283465496 | RCV003015355; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018916 | 245018916 | | | 245018916 | - | | |
NM_031844.3(HNRNPU):c.2168-9G>A | 3192 | HNRNPU | Likely benign | -1 | RCV002710596; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018919 | 245018919 | | | NC_000001.10:g.245018919C>T | - | | |
NM_031844.3(HNRNPU):c.2168-10T>C | 3192 | HNRNPU | Likely benign | 2102985130 | RCV003081048; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018920 | 245018920 | | | 245018920 | - | | |
NM_031844.3(HNRNPU):c.2168-12C>G | 3192 | HNRNPU | Likely benign | 200427582 | RCV001567388|RCV002569038; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018922 | 245018922 | | | 245018922 | - | | |
NM_031844.3(HNRNPU):c.2168-12C>T | 3192 | HNRNPU | Likely benign | 200427582 | RCV003053400; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018922 | 245018922 | | | 245018922 | - | | |
NM_031844.3(HNRNPU):c.2168-13T>A | 3192 | HNRNPU | Likely benign | -1 | RCV003005647; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245018923 | 245018923 | | | NC_000001.10:g.245018923A>T | - | | |
NM_031844.3(HNRNPU):c.2167+20T>G | 3192 | HNRNPU | Likely benign | -1 | RCV002580955; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019186 | 245019186 | | | NC_000001.10:g.245019186A>C | - | | |
NM_031844.3(HNRNPU):c.2167+15A>C | 3192 | HNRNPU | Benign | 780932517 | RCV002551245; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019191 | 245019191 | | | 245019191 | - | | |
NM_031844.2(HNRNPU):c.2166_2167+1delAGG | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 575582638 | RCV000768231|RCV001692243|RCV002315960; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 1 | 245019205 | 245019207 | | | 1:g.245019205_245019207del | ClinGen:CA1486309 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.2167G>A (p.Ala723Thr) | 3192 | HNRNPU | Uncertain significance | 2102985303 | RCV002545881; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019206 | 245019206 | | | 245019206 | - | | |
NM_031844.3(HNRNPU):c.2166A>C (p.Gly722=) | 3192 | HNRNPU | Likely benign | 140234240 | RCV002529975|RCV003420119; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MedGen:C3661900 | 1 | 245019207 | 245019207 | | | 1:g.245019207T>G | ClinGen:CA1486310 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.2164_2165dup (p.Ala723fs) | 3192 | HNRNPU | Uncertain significance | 1680667014 | RCV003103950; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019207 | 245019208 | | | 245019207 | - | | |
NM_031844.3(HNRNPU):c.2164G>A (p.Gly722Arg) | 3192 | HNRNPU | Uncertain significance | 1475137624 | RCV002548001; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019209 | 245019209 | | | 245019209 | - | | |
NM_031844.3(HNRNPU):c.2160A>G (p.Arg720=) | 3192 | HNRNPU | Likely benign | -1 | RCV003082565; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019213 | 245019213 | | | | - | | |
NM_031844.3(HNRNPU):c.2149G>A (p.Gly717Arg) | 3192 | HNRNPU | Likely benign | 2102985318 | RCV003025480; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019224 | 245019224 | | | 245019224 | - | | |
NM_031844.3(HNRNPU):c.2138A>G (p.Asn713Ser) | 3192 | HNRNPU | Uncertain significance | 200887441 | RCV002551073; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019235 | 245019235 | | | 245019235 | - | | |
NM_031844.3(HNRNPU):c.2126G>A (p.Arg709His) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002725757; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019247 | 245019247 | | | NC_000001.10:g.245019247C>T | - | | |
NM_031844.3(HNRNPU):c.2122_2124dup (p.Gly708dup) | 3192 | HNRNPU | Uncertain significance | 2102985341 | RCV002552870; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019248 | 245019249 | | | 245019248 | - | | |
NM_031844.3(HNRNPU):c.2118T>C (p.His706=) | 3192 | HNRNPU | Likely benign | 1553282227 | RCV002529978; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019255 | 245019255 | | | 1:g.245019255A>G | ClinGen:CA424401771 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.2111G>A (p.Gly704Asp) | 3192 | HNRNPU | Uncertain significance | 1680668703 | RCV002539503; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019262 | 245019262 | | | 245019262 | - | | |
NM_031844.3(HNRNPU):c.2105G>C (p.Arg702Thr) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002829322; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019268 | 245019268 | | | NC_000001.10:g.245019268C>G | - | | |
NM_031844.3(HNRNPU):c.2086G>A (p.Gly696Ser) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002847142; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019287 | 245019287 | | | NC_000001.10:g.245019287C>T | - | | |
NM_031844.3(HNRNPU):c.2072del (p.Asn691fs) | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002481170; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019301 | 245019301 | | | NC_000001.10:g.245019302del | - | | |
NM_031844.3(HNRNPU):c.2059T>C (p.Ser687Pro) | 3192 | HNRNPU | Likely benign | 2102985380 | RCV003104121; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019314 | 245019314 | | | 245019314 | - | | |
NM_031844.3(HNRNPU):c.2053A>G (p.Thr685Ala) | 3192 | HNRNPU | Likely benign | 2102985384 | RCV002555434; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019320 | 245019320 | | | 245019320 | - | | |
NM_031844.3(HNRNPU):c.2052C>T (p.Asn684=) | 3192 | HNRNPU | Likely benign | 1680670133 | RCV002561931; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019321 | 245019321 | | | 245019321 | - | | |
NM_031844.3(HNRNPU):c.2051A>T (p.Asn684Ile) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003009538; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019322 | 245019322 | | | NC_000001.10:g.245019322T>A | - | | |
NM_031844.3(HNRNPU):c.2043G>A (p.Lys681=) | 3192 | HNRNPU | Likely benign | 1573329677 | RCV003104116; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019330 | 245019330 | | | 245019330 | - | | |
NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 1680670991 | RCV003053408; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019342 | 245019342 | | | 245019342 | - | | |
NM_031844.3(HNRNPU):c.2028T>C (p.Ala676=) | 3192 | HNRNPU | Likely benign | 765207574 | RCV002562287; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019345 | 245019345 | | | 245019345 | - | | |
NM_031844.3(HNRNPU):c.2013A>G (p.Glu671=) | 3192 | HNRNPU | Likely benign | 373573514 | RCV002542214; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019360 | 245019360 | | | 1:g.245019360T>C | - | | |
NM_031844.3(HNRNPU):c.2009A>G (p.Lys670Arg) | 3192 | HNRNPU | Uncertain significance | 937095421 | RCV002416330|RCV002551345; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019364 | 245019364 | | | 1:g.245019364T>C | - | | |
NM_031844.3(HNRNPU):c.2006dup (p.Tyr669Ter) | 3192 | HNRNPU | Pathogenic | 2102985419 | RCV002553556; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019366 | 245019367 | | | 245019366 | - | | |
NM_031844.3(HNRNPU):c.1996T>C (p.Leu666=) | 3192 | HNRNPU | Likely benign | 755861836 | RCV000994328|RCV002549865; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019377 | 245019377 | | | 1:g.245019377A>G | - | | |
NM_031844.3(HNRNPU):c.1995C>A (p.Leu665=) | 3192 | HNRNPU | Likely benign | -1 | RCV002848223; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019378 | 245019378 | | | | - | | |
NM_031844.3(HNRNPU):c.1986C>T (p.Ala662=) | 3192 | HNRNPU | Likely benign | 1278714852 | RCV002562301; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019387 | 245019387 | | | 245019387 | - | | |
NM_031844.3(HNRNPU):c.1968A>G (p.Glu656=) | 3192 | HNRNPU | Likely benign | 1245826828 | RCV002561260; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019405 | 245019405 | | | 245019405 | - | | |
NM_031844.3(HNRNPU):c.1962T>C (p.Tyr654=) | 3192 | HNRNPU | Likely benign | -1 | RCV002908562; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019411 | 245019411 | | | | - | | |
NM_031844.3(HNRNPU):c.1958C>T (p.Thr653Ile) | 3192 | HNRNPU | Uncertain significance | 1206290880 | RCV002571241; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019415 | 245019415 | | | 245019415 | - | | |
NM_031844.3(HNRNPU):c.1958C>G (p.Thr653Ser) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002621196; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019415 | 245019415 | | | NC_000001.10:g.245019415G>C | - | | |
NM_031844.3(HNRNPU):c.1954A>G (p.Ile652Val) | 3192 | HNRNPU | Uncertain significance | 1261806485 | RCV002563150; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019419 | 245019419 | | | 1:g.245019419T>C | - | | |
NM_031844.3(HNRNPU):c.1952A>C (p.Glu651Ala) | 3192 | HNRNPU | Benign | 202115297 | RCV002420725|RCV002529973; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019421 | 245019421 | | | 1:g.245019421T>G | ClinGen:CA1486330 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1944C>T (p.Cys648=) | 3192 | HNRNPU | Likely benign | 895356669 | RCV002550528; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019429 | 245019429 | | | 245019429 | - | | |
NM_031844.3(HNRNPU):c.1940A>G (p.Glu647Gly) | 3192 | HNRNPU | Uncertain significance | 1680674233 | RCV002555242; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019433 | 245019433 | | | 245019433 | - | | |
NM_031844.3(HNRNPU):c.1934T>A (p.Val645Glu) | 3192 | HNRNPU | Uncertain significance | 2102985465 | RCV002562195; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019439 | 245019439 | | | 245019439 | - | | |
NM_031844.3(HNRNPU):c.1929A>C (p.Pro643=) | 3192 | HNRNPU | Likely benign | 1445734357 | RCV002561268; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019444 | 245019444 | | | 245019444 | - | | |
NM_031844.3(HNRNPU):c.1926C>T (p.Leu642=) | 3192 | HNRNPU | Likely benign | 574556630 | RCV002540823; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019447 | 245019447 | | | 1:g.245019447G>A | - | | |
NM_031844.3(HNRNPU):c.1922C>G (p.Thr641Ser) | 3192 | HNRNPU | Likely benign | 745323844 | RCV003089016; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019451 | 245019451 | | | 245019451 | - | | |
NM_031844.3(HNRNPU):c.1920T>C (p.Phe640=) | 3192 | HNRNPU | Likely benign | -1 | RCV002572496; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019453 | 245019453 | | | | - | | |
NM_031844.3(HNRNPU):c.1913-7C>G | 3192 | HNRNPU | Likely benign | 746741412 | RCV002555539; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019467 | 245019467 | | | 245019467 | - | | |
NM_031844.3(HNRNPU):c.1913-8T>C | 3192 | HNRNPU | Likely benign | 868188663 | RCV002552353; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019468 | 245019468 | | | 245019468 | - | | |
NM_031844.3(HNRNPU):c.1913-9T>C | 3192 | HNRNPU | Likely benign | -1 | RCV002832856; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019469 | 245019469 | | | NC_000001.10:g.245019469A>G | - | | |
NM_031844.3(HNRNPU):c.1913-14T>C | 3192 | HNRNPU | Likely benign | 560347792 | RCV002553715; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019474 | 245019474 | | | 245019474 | - | | |
NM_031844.3(HNRNPU):c.1912+19G>A | 3192 | HNRNPU | Likely benign | 1054002781 | RCV003007115; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019740 | 245019740 | | | 245019740 | - | | |
NM_031844.3(HNRNPU):c.1912+18T>C | 3192 | HNRNPU | Likely benign | 761282964 | RCV003089081; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019741 | 245019741 | | | 245019741 | - | | |
NM_031844.3(HNRNPU):c.1912+12T>A | 3192 | HNRNPU | Likely benign | -1 | RCV002918417; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019747 | 245019747 | | | NC_000001.10:g.245019747A>T | - | | |
NM_031844.3(HNRNPU):c.1905_1906del (p.Lys635fs) | 3192 | HNRNPU | Pathogenic | 2102985675 | RCV002250048; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019765 | 245019766 | | | 245019764 | - | | |
NM_031844.3(HNRNPU):c.1899C>G (p.Val633=) | 3192 | HNRNPU | Likely benign | -1 | RCV003062634; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019772 | 245019772 | | | | - | | |
NM_031844.3(HNRNPU):c.1893T>C (p.His631=) | 3192 | HNRNPU | Likely benign | 146426697 | RCV002414046|RCV002555562; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019778 | 245019778 | | | 245019778 | - | | |
NM_031844.3(HNRNPU):c.1884A>G (p.Leu628=) | 3192 | HNRNPU | Likely benign | 2102985689 | RCV003033344; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019787 | 245019787 | | | 245019787 | - | | |
NM_031844.3(HNRNPU):c.1869A>G (p.Val623=) | 3192 | HNRNPU | Likely benign | 2102985697 | RCV003053374; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019802 | 245019802 | | | 245019802 | - | | |
NM_031844.3(HNRNPU):c.1867G>T (p.Val623Leu) | 3192 | HNRNPU | Likely benign | 759569722 | RCV003033323; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019804 | 245019804 | | | 245019804 | - | | |
NM_031844.3(HNRNPU):c.1842G>A (p.Lys614=) | 3192 | HNRNPU | Likely benign | -1 | RCV002829624; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019829 | 245019829 | | | | - | | |
NM_031844.3(HNRNPU):c.1826A>G (p.Lys609Arg) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 761602649 | RCV001329454|RCV002412051; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245019845 | 245019845 | | | 245019845 | - | | |
NM_031844.3(HNRNPU):c.1825A>G (p.Lys609Glu) | 3192 | HNRNPU | Uncertain significance | 1680685512 | RCV002543098; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019846 | 245019846 | | | 245019846 | - | | |
NM_031844.3(HNRNPU):c.1812dup (p.Val605fs) | 3192 | HNRNPU | Pathogenic | 1057524916 | RCV000445555; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019858 | 245019859 | | | 1:g.245019858_245019859insA | ClinGen:CA16609281,OMIM:602869.0003 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.1807G>A (p.Ala603Thr) | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002917393; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019864 | 245019864 | | | NC_000001.10:g.245019864C>T | - | | |
NM_031844.3(HNRNPU):c.1803A>T (p.Arg601=) | 3192 | HNRNPU | Likely benign | 1573330232 | RCV002551305; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019868 | 245019868 | | | 245019868 | - | | |
NM_031844.3(HNRNPU):c.1794C>T (p.Gly598=) | 3192 | HNRNPU | Likely benign | 369567187 | RCV002399865|RCV002538916; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019877 | 245019877 | | | 1:g.245019877G>A | - | | |
NM_031844.3(HNRNPU):c.1785G>A (p.Leu595=) | 3192 | HNRNPU | Likely benign | 973383008 | RCV002560305; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019886 | 245019886 | | | 245019886 | - | | |
NM_031844.3(HNRNPU):c.1780_1781del (p.Cys594fs) | 3192 | HNRNPU | Likely pathogenic | -1 | RCV003333402; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019890 | 245019891 | | | | - | | |
NM_031844.3(HNRNPU):c.1770G>A (p.Arg590=) | 3192 | HNRNPU | Likely benign | 1573330255 | RCV002539126; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019901 | 245019901 | | | 1:g.245019901C>T | - | | |
NM_031844.3(HNRNPU):c.1765del (p.Gln589fs) | 3192 | HNRNPU | Pathogenic | -1 | RCV003324243; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019906 | 245019906 | | | | - | | |
NM_031844.3(HNRNPU):c.1746A>C (p.Thr582=) | 3192 | HNRNPU | Likely benign | -1 | RCV002847109; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019925 | 245019925 | | | | - | | |
NM_031844.3(HNRNPU):c.1744-11dup | 3192 | HNRNPU | Benign | 770379796 | RCV002568035; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019931 | 245019932 | | | 245019931 | - | | |
NM_031844.3(HNRNPU):c.1744-4A>T | 3192 | HNRNPU | Uncertain significance | 1242693487 | RCV002555740; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019931 | 245019931 | | | 245019931 | - | | |
NM_031844.3(HNRNPU):c.1744-4A>G | 3192 | HNRNPU | Likely benign | 1242693487 | RCV003053454; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019931 | 245019931 | | | 245019931 | - | | |
NM_031844.3(HNRNPU):c.1744-12C>T | 3192 | HNRNPU | Likely benign | -1 | RCV002861609; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019939 | 245019939 | | | NC_000001.10:g.245019939G>A | - | | |
NM_031844.3(HNRNPU):c.1744-13del | 3192 | HNRNPU | Likely benign | -1 | RCV003037670; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019940 | 245019940 | | | NC_000001.10:g.245019942del | - | | |
NM_031844.3(HNRNPU):c.1744-17A>C | 3192 | HNRNPU | Likely benign | -1 | RCV002712036; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019944 | 245019944 | | | NC_000001.10:g.245019944T>G | - | | |
NM_031844.3(HNRNPU):c.1744-17A>T | 3192 | HNRNPU | Likely benign | -1 | RCV003023351; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019944 | 245019944 | | | NC_000001.10:g.245019944T>A | - | | |
NM_031844.3(HNRNPU):c.1744-19T>G | 3192 | HNRNPU | Uncertain significance | 758459772 | RCV002551624; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245019946 | 245019946 | | | 245019946 | - | | |
NM_031844.3(HNRNPU):c.1743+20T>A | 3192 | HNRNPU | Likely benign | 1449168514 | RCV002993446; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020010 | 245020010 | | | 245020010 | - | | |
NM_031844.3(HNRNPU):c.1743+10A>C | 3192 | HNRNPU | Benign | 75053711 | RCV000711970|RCV003103792; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020020 | 245020020 | | | NC_000001.10:g.245020020T>G | ClinGen:CA1486396 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1743+8G>T | 3192 | HNRNPU | Benign/Likely benign | 75674611 | RCV001551853|RCV002489103; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020022 | 245020022 | | | NC_000001.10:g.245020022C>A | ClinGen:CA1486398 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1743+8G>A | 3192 | HNRNPU | Likely benign | 75674611 | RCV002560348; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020022 | 245020022 | | | 245020022 | - | | |
NM_031844.3(HNRNPU):c.1743+5G>A | 3192 | HNRNPU | Benign | -1 | RCV003055821; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020025 | 245020025 | | | NC_000001.10:g.245020025C>T | - | | |
NM_031844.3(HNRNPU):c.1743+4C>T | 3192 | HNRNPU | Benign | 115917666 | RCV002544619; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020026 | 245020026 | | | 1:g.245020026G>A | - | | |
NM_031844.3(HNRNPU):c.1743+1G>A | 3192 | HNRNPU | Likely pathogenic | 2102985855 | RCV002550445; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020029 | 245020029 | | | 245020029 | - | | |
NM_031844.3(HNRNPU):c.1723C>A (p.Arg575=) | 3192 | HNRNPU | Likely benign | -1 | RCV002932411; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020050 | 245020050 | | | | - | | |
NM_031844.3(HNRNPU):c.1723C>T (p.Arg575Ter) | 3192 | HNRNPU | Likely pathogenic | -1 | RCV003142363; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020050 | 245020050 | | | NC_000001.10:g.245020050G>A | - | | |
NM_031844.3(HNRNPU):c.1717AAG[1] (p.Lys574del) | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002481167; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020051 | 245020053 | | | NC_000001.10:g.245020051CTT[1] | - | | |
NM_031844.3(HNRNPU):c.1722G>A (p.Lys574=) | 3192 | HNRNPU | Likely benign | -1 | RCV002584830; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020051 | 245020051 | | | | - | | |
NM_031844.3(HNRNPU):c.1716A>G (p.Arg572=) | 3192 | HNRNPU | Likely benign | -1 | RCV002971075; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020057 | 245020057 | | | | - | | |
NM_031844.3(HNRNPU):c.1710T>C (p.Ala570=) | 3192 | HNRNPU | Likely benign | 1553282382 | RCV000515630|RCV000530792; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391| | 1 | 245020063 | 245020063 | | | NC_000001.10:g.245020063A>G | ClinGen:CA424402229 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) | 3192 | HNRNPU | Pathogenic | 1573330458 | RCV000986582; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020091 | 245020092 | | | 1:g.245020091_245020092insG | - | | |
NM_031844.3(HNRNPU):c.1680C>T (p.Pro560=) | 3192 | HNRNPU | Likely benign | -1 | RCV002589274; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020093 | 245020093 | | | | - | | |
NM_031844.3(HNRNPU):c.1665_1666del (p.Leu556fs) | 3192 | HNRNPU | Pathogenic | 2102985889 | RCV001843994; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020107 | 245020108 | | | 245020106 | - | | |
NM_031844.3(HNRNPU):c.1664del (p.Leu555fs) | 3192 | HNRNPU | Pathogenic | 1680691597 | RCV001254678; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020109 | 245020109 | | | 1:g.245020109_245020109del | - | | |
NM_031844.3(HNRNPU):c.1654C>T (p.Leu552=) | 3192 | HNRNPU | Likely benign | 115612462 | RCV002404954|RCV002553431; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020119 | 245020119 | | | 245020119 | - | | |
NM_031844.3(HNRNPU):c.1647T>C (p.Thr549=) | 3192 | HNRNPU | Likely benign | -1 | RCV002857796; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020126 | 245020126 | | | | - | | |
NM_031844.3(HNRNPU):c.1642G>A (p.Asp548Asn) | 3192 | HNRNPU | Uncertain significance | 1553282397 | RCV000515624|RCV000552363; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391| | 1 | 245020131 | 245020131 | | | NC_000001.10:g.245020131C>T | ClinGen:CA345490040 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.1639del (p.Ala547fs) | 3192 | HNRNPU | Pathogenic | -1 | RCV002858053; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020134 | 245020134 | | | NC_000001.10:g.245020135del | - | | |
NM_031844.3(HNRNPU):c.1615-8G>C | 3192 | HNRNPU | Likely benign | 1680694709 | RCV002560308; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020166 | 245020166 | | | 245020166 | - | | |
NM_031844.3(HNRNPU):c.1615-10T>C | 3192 | HNRNPU | Benign | 193281914 | RCV002536279; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020168 | 245020168 | | | 1:g.245020168A>G | - | | |
NM_031844.3(HNRNPU):c.1615-11T>G | 3192 | HNRNPU | Likely benign | 1213559611 | RCV003093813; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020169 | 245020169 | | | 245020169 | - | | |
NM_031844.3(HNRNPU):c.1615-13C>T | 3192 | HNRNPU | Likely benign | -1 | RCV002847157; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020171 | 245020171 | | | NC_000001.10:g.245020171G>A | - | | |
NM_031844.3(HNRNPU):c.1614+11T>C | 3192 | HNRNPU | Likely benign | -1 | RCV003081994; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020889 | 245020889 | | | NC_000001.10:g.245020889A>G | - | | |
NM_031844.3(HNRNPU):c.1614+7A>G | 3192 | HNRNPU | Likely benign | 1359131241 | RCV002562649; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020893 | 245020893 | | | 245020893 | - | | |
NM_031844.3(HNRNPU):c.1614+5G>A | 3192 | HNRNPU | Uncertain significance | 2102986339 | RCV002548709; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020895 | 245020895 | | | 245020895 | - | | |
NM_031844.3(HNRNPU):c.1592A>G (p.Asn531Ser) | 3192 | HNRNPU | Uncertain significance | 1573331208 | RCV002535893; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020922 | 245020922 | | | 1:g.245020922T>C | - | | |
NM_031844.3(HNRNPU):c.1590A>G (p.Thr530=) | 3192 | HNRNPU | Likely benign | 1466576939 | RCV002560313; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020924 | 245020924 | | | 245020924 | - | | |
NM_031844.3(HNRNPU):c.1588A>G (p.Thr530Ala) | 3192 | HNRNPU | Likely benign | -1 | RCV003089866; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020926 | 245020926 | | | NC_000001.10:g.245020926T>C | - | | |
NM_031844.3(HNRNPU):c.1586G>C (p.Gly529Ala) | 3192 | HNRNPU | Uncertain significance | 2102986351 | RCV002592581; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020928 | 245020928 | | | 245020928 | - | | |
NM_031844.3(HNRNPU):c.1578C>T (p.Asn526=) | 3192 | HNRNPU | Likely benign | 760203789 | RCV002553031; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020936 | 245020936 | | | 245020936 | - | | |
NM_031844.3(HNRNPU):c.1575T>C (p.Tyr525=) | 3192 | HNRNPU | Likely benign | 112266429 | RCV002538975; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020939 | 245020939 | | | 1:g.245020939A>G | - | | |
NM_031844.3(HNRNPU):c.1548A>G (p.Lys516=) | 3192 | HNRNPU | Likely benign | 1375842097 | RCV002554010; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020966 | 245020966 | | | 245020966 | - | | |
NM_031844.3(HNRNPU):c.1543A>G (p.Thr515Ala) | 3192 | HNRNPU | Uncertain significance | 757616624 | RCV002546077; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020971 | 245020971 | | | 245020971 | - | | |
NM_031844.3(HNRNPU):c.1536C>T (p.Thr512=) | 3192 | HNRNPU | Likely benign | 552747149 | RCV002533239; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245020978 | 245020978 | | | 1:g.245020978G>A | ClinGen:CA40500163 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1500GAT[2] (p.Met502del) | 3192 | HNRNPU | Likely pathogenic | 1680716624 | RCV002552514; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021006 | 245021008 | | | 1:g.245021006_245021008del | - | | |
NM_031844.3(HNRNPU):c.1495-5A>G | 3192 | HNRNPU | Likely benign | 2102986405 | RCV003061709; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021024 | 245021024 | | | 245021024 | - | | |
NM_031844.3(HNRNPU):c.1495-10_1495-6del | 3192 | HNRNPU | Benign | 759862936 | RCV002534360; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021025 | 245021029 | | | 1:g.245021025_245021029del | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1495-6C>T | 3192 | HNRNPU | Likely benign | -1 | RCV002834709; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021025 | 245021025 | | | NC_000001.10:g.245021025G>A | - | | |
NM_031844.3(HNRNPU):c.1495-11C>T | 3192 | HNRNPU | Likely benign | 1049179447 | RCV003070628; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021030 | 245021030 | | | 245021030 | - | | |
NM_031844.3(HNRNPU):c.1495-11C>G | 3192 | HNRNPU | Likely benign | -1 | RCV002695002; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021030 | 245021030 | | | NC_000001.10:g.245021030G>C | - | | |
NM_031844.3(HNRNPU):c.1495-16_1495-14del | 3192 | HNRNPU | Likely benign | 767647451 | RCV002562298; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021033 | 245021035 | | | 245021032 | - | | |
NM_031844.3(HNRNPU):c.1495-16C>T | 3192 | HNRNPU | Likely benign | 780642044 | RCV003093828; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021035 | 245021035 | | | 245021035 | - | | |
NM_031844.3(HNRNPU):c.1494+20_1494+21del | 3192 | HNRNPU | Benign | -1 | RCV003083891; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021292 | 245021293 | | | NC_000001.10:g.245021303_245021304del | - | | |
NM_031844.3(HNRNPU):c.1494+19T>A | 3192 | HNRNPU | Likely benign | 765604666 | RCV003081099; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021294 | 245021294 | | | 245021294 | - | | |
NM_031844.3(HNRNPU):c.1494+19T>C | 3192 | HNRNPU | Likely benign | -1 | RCV002993552; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021294 | 245021294 | | | NC_000001.10:g.245021294A>G | - | | |
NM_031844.3(HNRNPU):c.1494+14T>G | 3192 | HNRNPU | Likely benign | 750711704 | RCV003015293; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021299 | 245021299 | | | 245021299 | - | | |
NM_031844.3(HNRNPU):c.1494+11_1494+12insC | 3192 | HNRNPU | Likely benign | -1 | RCV003058691; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021301 | 245021302 | | | NC_000001.10:g.245021301_245021302insG | - | | |
NM_031844.3(HNRNPU):c.1494+8A>G | 3192 | HNRNPU | Likely benign | 766736866 | RCV003053446; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021305 | 245021305 | | | 245021305 | - | | |
NM_031844.3(HNRNPU):c.1494+7G>T | 3192 | HNRNPU | Uncertain significance | 752112910 | RCV002544869; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021306 | 245021306 | | | NC_000001.10:g.245021306C>A | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1494+5G>C | 3192 | HNRNPU | Uncertain significance | -1 | RCV002863297; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021308 | 245021308 | | | NC_000001.10:g.245021308C>G | - | | |
NM_031844.3(HNRNPU):c.1491_1492dup (p.Glu498fs) | 3192 | HNRNPU | Pathogenic | 1680725785 | RCV002563835; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021314 | 245021315 | | | 1:g.245021314_245021315insCA | - | | |
NM_031844.3(HNRNPU):c.1488T>C (p.Asp496=) | 3192 | HNRNPU | Likely benign | 755100242 | RCV002547294; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021319 | 245021319 | | | 1:g.245021319A>G | - | | |
NM_031844.3(HNRNPU):c.1487A>G (p.Asp496Gly) | 3192 | HNRNPU | Likely benign | 1274587234 | RCV002560380; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021320 | 245021320 | | | 245021320 | - | | |
NM_031844.3(HNRNPU):c.1477G>A (p.Glu493Lys) | 3192 | HNRNPU | Uncertain significance | 1233558404 | RCV002529972; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021330 | 245021330 | | | NC_000001.10:g.245021330C>T | ClinGen:CA345491359 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1472C>T (p.Pro491Leu) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002837669; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021335 | 245021335 | | | NC_000001.10:g.245021335G>A | - | | |
NM_031844.3(HNRNPU):c.1470G>C (p.Gly490=) | 3192 | HNRNPU | Likely benign | -1 | RCV002976581; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021337 | 245021337 | | | | - | | |
NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala) | 3192 | HNRNPU | Benign/Likely benign | 199740131 | RCV001692128|RCV002393100|RCV002526402; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021347 | 245021347 | | | NC_000001.10:g.245021347C>G | ClinGen:CA1486457 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1458A>G (p.Arg486=) | 3192 | HNRNPU | Likely benign | 748355426 | RCV002552684; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021349 | 245021349 | | | 245021349 | - | | |
NM_031844.3(HNRNPU):c.1453G>A (p.Val485Ile) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002632050; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021354 | 245021354 | | | NC_000001.10:g.245021354C>T | - | | |
NM_031844.3(HNRNPU):c.1451G>A (p.Arg484Gln) | 3192 | HNRNPU | Uncertain significance | 2102986610 | RCV001810039|RCV002548543; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021356 | 245021356 | | | 245021356 | - | | |
NM_031844.3(HNRNPU):c.1441T>A (p.Leu481Ile) | 3192 | HNRNPU | Uncertain significance | 930828143 | RCV002573391; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021366 | 245021366 | | | 245021366 | - | | |
NM_031844.3(HNRNPU):c.1433A>G (p.Asn478Ser) | 3192 | HNRNPU | Uncertain significance | 745596089 | RCV002554177; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021374 | 245021374 | | | 245021374 | - | | |
NM_031844.3(HNRNPU):c.1425C>T (p.Phe475=) | 3192 | HNRNPU | Likely benign | -1 | RCV002593992; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021382 | 245021382 | | | | - | | |
NM_031844.3(HNRNPU):c.1424T>G (p.Phe475Cys) | 3192 | HNRNPU | Uncertain significance | 569338651 | RCV003104033; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021383 | 245021383 | | | 245021383 | - | | |
NM_031844.3(HNRNPU):c.1422T>G (p.Thr474=) | 3192 | HNRNPU | Likely benign | 886189976 | RCV002555146; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021385 | 245021385 | | | 245021385 | - | | |
NM_031844.3(HNRNPU):c.1421C>A (p.Thr474Asn) | 3192 | HNRNPU | Uncertain significance | 771909772 | RCV001329907; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021386 | 245021386 | | | 245021386 | - | | |
NM_031844.3(HNRNPU):c.1413A>G (p.Glu471=) | 3192 | HNRNPU | Likely benign | 1297107643 | RCV002545923; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021394 | 245021394 | | | 1:g.245021394T>C | - | | |
NM_031844.3(HNRNPU):c.1405A>G (p.Ile469Val) | 3192 | HNRNPU | Benign | 370427995 | RCV002545598; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021402 | 245021402 | | | 245021402 | - | | |
NM_031844.3(HNRNPU):c.1404A>G (p.Pro468=) | 3192 | HNRNPU | Likely benign | 768134567 | RCV002555197; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021403 | 245021403 | | | 245021403 | - | | |
NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=) | 3192 | HNRNPU | Likely benign | 761416400 | RCV002555542; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021412 | 245021412 | | | 245021412 | - | | |
NM_031844.3(HNRNPU):c.1394C>G (p.Pro465Arg) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003016622; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021413 | 245021413 | | | NC_000001.10:g.245021413G>C | - | | |
NM_031844.3(HNRNPU):c.1391A>G (p.Lys464Arg) | 3192 | HNRNPU | Benign | 1573331728 | RCV002536965; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021416 | 245021416 | | | 1:g.245021416T>C | - | | |
NM_031844.3(HNRNPU):c.1385A>G (p.Lys462Arg) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002650460; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021422 | 245021422 | | | NC_000001.10:g.245021422T>C | - | | |
NM_031844.3(HNRNPU):c.1378G>A (p.Gly460Ser) | 3192 | HNRNPU | Uncertain significance | 2102986670 | RCV002563605; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021429 | 245021429 | | | 245021429 | - | | |
NM_031844.3(HNRNPU):c.1369T>C (p.Phe457Leu) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002943789; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021438 | 245021438 | | | NC_000001.10:g.245021438A>G | - | | |
NM_031844.3(HNRNPU):c.1368A>C (p.Glu456Asp) | 3192 | HNRNPU | Uncertain significance | 1558187433 | RCV000767987; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021439 | 245021439 | | | NC_000001.10:g.245021439T>G | - | | |
NM_031844.3(HNRNPU):c.1353C>G (p.His451Gln) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002853167; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021454 | 245021454 | | | NC_000001.10:g.245021454G>C | - | | |
NM_031844.3(HNRNPU):c.1350C>T (p.Cys450=) | 3192 | HNRNPU | Likely benign | 760166337 | RCV002564135; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021457 | 245021457 | | | 245021457 | - | | |
NM_031844.3(HNRNPU):c.1338G>T (p.Pro446=) | 3192 | HNRNPU | Likely benign | 752673312 | RCV003104076; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021469 | 245021469 | | | 245021469 | - | | |
NM_031844.3(HNRNPU):c.1338G>A (p.Pro446=) | 3192 | HNRNPU | Likely benign | -1 | RCV003095327; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021469 | 245021469 | | | | - | | |
NM_031844.3(HNRNPU):c.1336C>G (p.Pro446Ala) | 3192 | HNRNPU | Likely benign | 2102986686 | RCV002552992; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021471 | 245021471 | | | 245021471 | - | | |
NM_031844.3(HNRNPU):c.1329A>G (p.Pro443=) | 3192 | HNRNPU | Likely benign | 777795507 | RCV002525653; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021478 | 245021478 | | | NC_000001.10:g.245021478T>C | ClinGen:CA1486478 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.1325G>A (p.Arg442Gln) | 3192 | HNRNPU | Uncertain significance | 1001439129 | RCV002608028; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021482 | 245021482 | | | 245021482 | - | | |
NM_031844.3(HNRNPU):c.1324C>T (p.Arg442Trp) | 3192 | HNRNPU | Uncertain significance | 1240447811 | RCV002547416; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021483 | 245021483 | | | 245021483 | - | | |
NM_031844.3(HNRNPU):c.1320_1321del (p.Gly441fs) | 3192 | HNRNPU | Pathogenic | 2102986721 | RCV002273907; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021486 | 245021487 | | | 245021485 | - | | |
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 373039242 | RCV000763847|RCV002379432; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245021488 | 245021488 | | | NC_000001.10:g.245021488G>T | ClinGen:CA1486480 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1319C>G (p.Ala440Gly) | 3192 | HNRNPU | Likely benign | 373039242 | RCV003101212; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021488 | 245021488 | | | 245021488 | - | | |
NM_031844.3(HNRNPU):c.1316T>C (p.Leu439Pro) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002910223; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021491 | 245021491 | | | NC_000001.10:g.245021491A>G | - | | |
NM_031844.3(HNRNPU):c.1311A>G (p.Glu437=) | 3192 | HNRNPU | Likely benign | -1 | RCV003030010; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021496 | 245021496 | | | | - | | |
NM_031844.3(HNRNPU):c.1302C>T (p.Ile434=) | 3192 | HNRNPU | Likely benign | -1 | RCV003066142; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021505 | 245021505 | | | | - | | |
NM_031844.3(HNRNPU):c.1301T>C (p.Ile434Thr) | 3192 | HNRNPU | Uncertain significance | 2102986726 | RCV002545658; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021506 | 245021506 | | | 245021506 | - | | |
NM_031844.3(HNRNPU):c.1298A>G (p.Lys433Arg) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002380697|RCV003094930; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021509 | 245021509 | | | 245021509 | - | | |
NM_031844.3(HNRNPU):c.1288G>A (p.Val430Ile) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 772732188 | RCV000473783|RCV001295836|RCV002525544|RCV003418166; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391||MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 1 | 245021519 | 245021519 | | | NC_000001.10:g.245021519C>T | ClinGen:CA1486486 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.1287C>T (p.Gly429=) | 3192 | HNRNPU | Likely benign | 754530060 | RCV002384590|RCV002553424; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021520 | 245021520 | | | 245021520 | - | | |
NM_031844.3(HNRNPU):c.1282C>G (p.Leu428Val) | 3192 | HNRNPU | Uncertain significance | 1680730995 | RCV002561841; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021525 | 245021525 | | | 1:g.245021525G>C | - | | |
NM_031844.3(HNRNPU):c.1282del (p.Gly429fs) | 3192 | HNRNPU | Pathogenic | 2102986749 | RCV001374422; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021525 | 245021525 | | | 245021524 | - | | |
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 199596170 | RCV001333298|RCV002536246|RCV003413679; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 1 | 245021533 | 245021533 | | | 1:g.245021533C>G | - | | |
NM_031844.3(HNRNPU):c.1274G>A (p.Gly425Glu) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003047081; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021533 | 245021533 | | | NC_000001.10:g.245021533C>T | - | | |
NM_031844.3(HNRNPU):c.1272T>C (p.Asn424=) | 3192 | HNRNPU | Likely benign | 768082015 | RCV000462030; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021535 | 245021535 | | | NC_000001.10:g.245021535A>G | ClinGen:CA1486491 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.1271A>G (p.Asn424Ser) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003104363; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021536 | 245021536 | | | NC_000001.10:g.245021536T>C | - | | |
NM_031844.3(HNRNPU):c.1268A>G (p.Lys423Arg) | 3192 | HNRNPU | Likely benign | 760669739 | RCV002318551|RCV002496813; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021539 | 245021539 | | | NC_000001.10:g.245021539T>C | ClinGen:CA1486493 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.1263T>C (p.Tyr421=) | 3192 | HNRNPU | Likely benign | -1 | RCV002603169; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021544 | 245021544 | | | | - | | |
NM_031844.3(HNRNPU):c.1262A>G (p.Tyr421Cys) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003050190; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021545 | 245021545 | | | NC_000001.10:g.245021545T>C | - | | |
NM_031844.3(HNRNPU):c.1260G>A (p.Ser420=) | 3192 | HNRNPU | Likely benign | 201637304 | RCV002549557; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021547 | 245021547 | | | 1:g.245021547C>T | - | | |
NM_031844.3(HNRNPU):c.1260G>T (p.Ser420=) | 3192 | HNRNPU | Likely benign | 201637304 | RCV002560365; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021547 | 245021547 | | | 245021547 | - | | |
NM_031844.3(HNRNPU):c.1259C>T (p.Ser420Leu) | 3192 | HNRNPU | Uncertain significance | 778010676 | RCV000992168|RCV001249272; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021548 | 245021548 | | | 1:g.245021548G>A | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1255C>T (p.Leu419Phe) | 3192 | HNRNPU | Likely benign | -1 | RCV003045999; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021552 | 245021552 | | | NC_000001.10:g.245021552G>A | - | | |
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=) | 3192 | HNRNPU | Benign/Likely benign | 142767399 | RCV001655579|RCV002314581|RCV002534551; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021556 | 245021556 | | | NC_000001.10:g.245021556T>C | - | | |
NM_031844.3(HNRNPU):c.1244A>G (p.Asp415Gly) | 3192 | HNRNPU | Uncertain significance | 1026590819 | RCV002562521; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021563 | 245021563 | | | 1:g.245021563T>C | - | | |
NM_031844.3(HNRNPU):c.1238A>G (p.Glu413Gly) | 3192 | HNRNPU | Uncertain significance | 1290271612 | RCV002557657; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021569 | 245021569 | | | 245021569 | - | | |
NM_031844.3(HNRNPU):c.1231-3C>T | 3192 | HNRNPU | Uncertain significance | 2102986793 | RCV002549074; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021579 | 245021579 | | | 245021579 | - | | |
NM_031844.3(HNRNPU):c.1231-7G>A | 3192 | HNRNPU | Likely benign | -1 | RCV002796407; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245021583 | 245021583 | | | NC_000001.10:g.245021583C>T | - | | |
NM_031844.3(HNRNPU):c.1230+20_1230+23del | 3192 | HNRNPU | Likely benign | -1 | RCV002815017; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022008 | 245022011 | | | NC_000001.10:g.245022009_245022012del | - | | |
NM_031844.3(HNRNPU):c.1230+20C>T | 3192 | HNRNPU | Likely benign | 748433309 | RCV003089015; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022011 | 245022011 | | | 245022011 | - | | |
NM_031844.3(HNRNPU):c.1230+20C>G | 3192 | HNRNPU | Likely benign | -1 | RCV002954423; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022011 | 245022011 | | | NC_000001.10:g.245022011G>C | - | | |
NM_031844.3(HNRNPU):c.1230+18T>G | 3192 | HNRNPU | Likely benign | 369082252 | RCV003053432; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022013 | 245022013 | | | 245022013 | - | | |
NM_031844.3(HNRNPU):c.1230+15A>G | 3192 | HNRNPU | Likely benign | -1 | RCV003075681; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022016 | 245022016 | | | NC_000001.10:g.245022016T>C | - | | |
NM_031844.3(HNRNPU):c.1230+8A>C | 3192 | HNRNPU | Likely benign | 555094041 | RCV002536256; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022023 | 245022023 | | | 1:g.245022023T>G | - | | |
NM_031844.3(HNRNPU):c.1230+8A>T | 3192 | HNRNPU | Likely benign | 555094041 | RCV003007132; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022023 | 245022023 | | | 245022023 | - | | |
NM_031844.3(HNRNPU):c.1230+5G>A | 3192 | HNRNPU | Pathogenic | 1553282723 | RCV000578651|RCV000754785|RCV002464262; | N | MedGen:CN517202|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391| | 1 | 245022026 | 245022026 | | | 1:g.245022026C>T | ClinGen:CA658683173 | CN517202 not provided; | |
NM_031844.3(HNRNPU):c.1230+1G>C | 3192 | HNRNPU | Pathogenic | 2102987091 | RCV001785352; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022030 | 245022030 | | | 245022030 | - | | |
NM_031844.3(HNRNPU):c.1230T>C (p.Ala410=) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002601221; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022031 | 245022031 | | | | - | | |
NM_031844.3(HNRNPU):c.1221A>G (p.Thr407=) | 3192 | HNRNPU | Likely benign | 1321164224 | RCV003089012; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022040 | 245022040 | | | 245022040 | - | | |
NM_031844.3(HNRNPU):c.1219A>G (p.Thr407Ala) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003040458; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022042 | 245022042 | | | NC_000001.10:g.245022042T>C | - | | |
NM_031844.3(HNRNPU):c.1216A>G (p.Ile406Val) | 3192 | HNRNPU | Likely benign | 773409645 | RCV002548444; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022045 | 245022045 | | | 1:g.245022045T>C | - | | |
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) | 3192 | HNRNPU | Benign/Likely benign | 147232928 | RCV000711967|RCV002313201|RCV002525654; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022046 | 245022046 | | | NC_000001.10:g.245022046C>T | ClinGen:CA1486539 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1214T>C (p.Val405Ala) | 3192 | HNRNPU | Uncertain significance | 936983140 | RCV002551502; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022047 | 245022047 | | | 1:g.245022047A>G | - | | |
NM_031844.3(HNRNPU):c.1210G>A (p.Asp404Asn) | 3192 | HNRNPU | Uncertain significance | 2102987111 | RCV002543460; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022051 | 245022051 | | | 245022051 | - | | |
NM_031844.3(HNRNPU):c.1208A>C (p.Asn403Thr) | 3192 | HNRNPU | Benign/Likely benign | 767181341 | RCV001692322|RCV002540861; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022053 | 245022053 | | | 1:g.245022053T>G | - | | |
NM_031844.3(HNRNPU):c.1200TGA[1] (p.Asp401del) | 3192 | HNRNPU | Likely benign | 1558187847 | RCV002539457; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022056 | 245022058 | | | 1:g.245022056_245022058del | - | | |
NM_031844.3(HNRNPU):c.1193A>C (p.Glu398Ala) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003131153; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022068 | 245022068 | | | NC_000001.10:g.245022068T>G | - | | |
NM_031844.3(HNRNPU):c.1188T>C (p.Tyr396=) | 3192 | HNRNPU | Likely benign | 2102987135 | RCV002553999; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022073 | 245022073 | | | 245022073 | - | | |
NM_031844.3(HNRNPU):c.1186T>C (p.Tyr396His) | 3192 | HNRNPU | Uncertain significance | 1553282732 | RCV002529974; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022075 | 245022075 | | | 1:g.245022075A>G | ClinGen:CA345492206 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1183G>C (p.Asp395His) | 3192 | HNRNPU | Likely benign | 777962801 | RCV002542209|RCV003372917; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245022078 | 245022078 | | | 1:g.245022078C>G | - | | |
NM_031844.3(HNRNPU):c.1182A>G (p.Glu394=) | 3192 | HNRNPU | Likely benign | 201766865 | RCV002538976; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022079 | 245022079 | | | 1:g.245022079T>C | - | | |
NM_031844.3(HNRNPU):c.1180G>C (p.Glu394Gln) | 3192 | HNRNPU | Uncertain significance | 371598663 | RCV002555612; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022081 | 245022081 | | | 245022081 | - | | |
NM_031844.3(HNRNPU):c.1173_1174del (p.Cys391_Glu392delinsTer) | 3192 | HNRNPU | Pathogenic | -1 | RCV000760265; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022087 | 245022088 | | | 1:g.245022087_245022088del | - | | |
NM_031844.3(HNRNPU):c.1169A>C (p.Asn390Thr) | 3192 | HNRNPU | Uncertain significance | 200174361 | RCV003103963; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022092 | 245022092 | | | 245022092 | - | | |
NM_031844.3(HNRNPU):c.1169A>G (p.Asn390Ser) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003092565; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022092 | 245022092 | | | NC_000001.10:g.245022092T>C | - | | |
NM_031844.3(HNRNPU):c.1168A>G (p.Asn390Asp) | 3192 | HNRNPU | Uncertain significance | 1363920060 | RCV002548707; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022093 | 245022093 | | | 245022093 | - | | |
NM_031844.3(HNRNPU):c.1164A>G (p.Thr388=) | 3192 | HNRNPU | Likely benign | -1 | RCV002667323; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022097 | 245022097 | | | | - | | |
NM_031844.3(HNRNPU):c.1157dup (p.Thr388fs) | 3192 | HNRNPU | Pathogenic | 2102987155 | RCV003104073; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022103 | 245022104 | | | 245022103 | - | | |
NM_031844.3(HNRNPU):c.1156A>G (p.Ile386Val) | 3192 | HNRNPU | Uncertain significance | 745485838 | RCV000515634; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022105 | 245022105 | | | NC_000001.10:g.245022105T>C | ClinGen:CA1486547 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.1140G>A (p.Gly380=) | 3192 | HNRNPU | Likely benign | 1386177443 | RCV003107956; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022121 | 245022121 | | | 245022121 | - | | |
NM_031844.3(HNRNPU):c.1137dup (p.Gly380fs) | 3192 | HNRNPU | Pathogenic | 1553282754 | RCV002533238; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022123 | 245022124 | | | 1:g.245022123_245022124insA | ClinGen:CA658795661 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1122del (p.Glu375fs) | 3192 | HNRNPU | Pathogenic | -1 | RCV002856945; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022139 | 245022139 | | | NC_000001.10:g.245022140del | - | | |
NM_031844.3(HNRNPU):c.1120G>A (p.Glu374Lys) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002852020; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022141 | 245022141 | | | NC_000001.10:g.245022141C>T | - | | |
NM_031844.3(HNRNPU):c.1119T>G (p.Gly373=) | 3192 | HNRNPU | Likely benign | 2102987178 | RCV002560372; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022142 | 245022142 | | | 245022142 | - | | |
NM_031844.3(HNRNPU):c.1118G>A (p.Gly373Asp) | 3192 | HNRNPU | Likely pathogenic | 2102987181 | RCV001808909; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022143 | 245022143 | | | 245022143 | - | | |
NM_031844.3(HNRNPU):c.1118-1G>A | 3192 | HNRNPU | Likely pathogenic | 2102987183 | RCV002550245; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022144 | 245022144 | | | 245022144 | - | | |
NM_031844.3(HNRNPU):c.1118-7_1118-3del | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 1064796710 | RCV000485202|RCV002525956; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022146 | 245022150 | | | NC_000001.10:g.245022148_245022152del | ClinGen:CA16617126 | CN517202 not provided; | |
NM_031844.3(HNRNPU):c.1118-6T>C | 3192 | HNRNPU | Likely benign | 145037892 | RCV002539013; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022149 | 245022149 | | | 1:g.245022149A>G | - | | |
NM_031844.3(HNRNPU):c.1118-9T>C | 3192 | HNRNPU | Likely benign | 2102987192 | RCV003104136; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022152 | 245022152 | | | 245022152 | - | | |
NM_031844.3(HNRNPU):c.1118-13_1118-10del | 3192 | HNRNPU | Uncertain significance | 778392648 | RCV002533734; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022153 | 245022156 | | | 1:g.245022153_245022156del | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1118-18G>T | 3192 | HNRNPU | Likely benign | 2102987195 | RCV003015370; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022161 | 245022161 | | | 245022161 | - | | |
NM_031844.3(HNRNPU):c.1117+10_1117+12del | 3192 | HNRNPU | Likely benign | 745941525 | RCV002529979; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022565 | 245022567 | | | 1:g.245022565_245022567del | ClinGen:CA1486568 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1117+9T>G | 3192 | HNRNPU | Likely benign | 757861230 | RCV002533240; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022568 | 245022568 | | | 1:g.245022568A>C | ClinGen:CA1486570 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1117+6G>T | 3192 | HNRNPU | Uncertain significance | 1553282840 | RCV002529976; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022571 | 245022571 | | | 1:g.245022571C>A | ClinGen:CA658795662 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1117+1G>C | 3192 | HNRNPU | Likely pathogenic | 1558188078 | RCV002533731; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022576 | 245022576 | | | 1:g.245022576C>G | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1106G>C (p.Gly369Ala) | 3192 | HNRNPU | Uncertain significance | 1475265666 | RCV002563661; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022588 | 245022588 | | | 1:g.245022588C>G | - | | |
NM_031844.3(HNRNPU):c.1099A>G (p.Thr367Ala) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002646551; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022595 | 245022595 | | | NC_000001.10:g.245022595T>C | - | | |
NM_031844.3(HNRNPU):c.1089G>T (p.Trp363Cys) | 3192 | HNRNPU | Uncertain significance | 1135401732 | RCV002569167; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022605 | 245022605 | | | 245022605 | - | | |
NM_031844.3(HNRNPU):c.1086C>T (p.Gly362=) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 556474465 | RCV002427077|RCV002538202; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022608 | 245022608 | | | 1:g.245022608G>A | - | | |
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 200962317 | RCV000515618|RCV000542335|RCV002431474; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391||MeSH:D030342,MedGen:C0950123 | 1 | 245022613 | 245022613 | | | NC_000001.10:g.245022613T>C | ClinGen:CA1486578 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.1078C>T (p.Arg360Cys) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003042240; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022616 | 245022616 | | | NC_000001.10:g.245022616G>A | - | | |
NM_031844.3(HNRNPU):c.1071T>C (p.His357=) | 3192 | HNRNPU | Likely benign | -1 | RCV002999936; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022623 | 245022623 | | | | - | | |
NM_031844.3(HNRNPU):c.1064A>T (p.Asp355Val) | 3192 | HNRNPU | Uncertain significance | 1680764764 | RCV001253124; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022630 | 245022630 | | | 1:g.245022630T>A | - | | |
NM_031844.3(HNRNPU):c.1060_1061del (p.Asp353_Ile354insTer) | 3192 | HNRNPU | Pathogenic | 2102987471 | RCV001726801|RCV003314012; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022633 | 245022634 | | | 245022632 | - | | |
NM_031844.3(HNRNPU):c.1053A>G (p.Thr351=) | 3192 | HNRNPU | Likely benign | 2102987473 | RCV002562304; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022641 | 245022641 | | | 245022641 | - | | |
NM_031844.3(HNRNPU):c.1041G>A (p.Arg347=) | 3192 | HNRNPU | Likely benign | -1 | RCV002647994; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022653 | 245022653 | | | | - | | |
NM_031844.3(HNRNPU):c.1039A>G (p.Arg347Gly) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002843690; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022655 | 245022655 | | | NC_000001.10:g.245022655T>C | - | | |
NM_031844.3(HNRNPU):c.1035A>G (p.Pro345=) | 3192 | HNRNPU | Uncertain significance | 770985819 | RCV003103953; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022659 | 245022659 | | | 245022659 | - | | |
NM_031844.3(HNRNPU):c.1030A>G (p.Ile344Val) | 3192 | HNRNPU | Uncertain significance | 1377845040 | RCV002552126; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022664 | 245022664 | | | 245022664 | - | | |
NM_031844.3(HNRNPU):c.1028A>G (p.Lys343Arg) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002472305; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022666 | 245022666 | | | NC_000001.10:g.245022666T>C | - | | |
NM_031844.3(HNRNPU):c.1023A>G (p.Thr341=) | 3192 | HNRNPU | Likely benign | -1 | RCV002963143; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022671 | 245022671 | | | | - | | |
NM_031844.3(HNRNPU):c.1018-8A>T | 3192 | HNRNPU | Likely benign | 1573333012 | RCV002541025; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245022684 | 245022684 | | | 1:g.245022684T>A | - | | |
NC_000001.11:g.(?_244860315)_(244862750_?)del | 3192 | HNRNPU | Pathogenic | -1 | RCV003103840; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023617 | 245026052 | | | | - | | |
NM_031844.3(HNRNPU):c.1017+18A>T | 3192 | HNRNPU | Likely benign | -1 | RCV002640568; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023619 | 245023619 | | | NC_000001.10:g.245023619T>A | - | | |
NM_031844.3(HNRNPU):c.1017+10A>G | 3192 | HNRNPU | Likely benign | 778904488 | RCV002547290; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023627 | 245023627 | | | 1:g.245023627T>C | - | | |
NM_031844.3(HNRNPU):c.1017+8C>T | 3192 | HNRNPU | Benign | 1553283026 | RCV002533237; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023629 | 245023629 | | | 1:g.245023629G>A | ClinGen:CA658795663 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.1017+8C>G | 3192 | HNRNPU | Likely benign | 1553283026 | RCV002561636; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023629 | 245023629 | | | 245023629 | - | | |
NM_031844.3(HNRNPU):c.1010A>C (p.Glu337Ala) | 3192 | HNRNPU | Uncertain significance | 2102988050 | RCV002675446; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023644 | 245023644 | | | 245023644 | - | | |
NM_031844.3(HNRNPU):c.1000G>C (p.Val334Leu) | 3192 | HNRNPU | Uncertain significance | 772372487 | RCV002533236; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023654 | 245023654 | | | 1:g.245023654C>G | ClinGen:CA1486604 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.998_999del (p.Lys333fs) | 3192 | HNRNPU | Pathogenic | -1 | RCV002872428; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023655 | 245023656 | | | NC_000001.10:g.245023656_245023657del | - | | |
NM_031844.3(HNRNPU):c.998A>C (p.Lys333Thr) | 3192 | HNRNPU | Uncertain significance | 747886979 | RCV002545069; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023656 | 245023656 | | | 245023656 | - | | |
NM_031844.3(HNRNPU):c.991A>G (p.Lys331Glu) | 3192 | HNRNPU | Uncertain significance | 375383329 | RCV002552982; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023663 | 245023663 | | | 245023663 | - | | |
NM_031844.3(HNRNPU):c.981T>C (p.Tyr327=) | 3192 | HNRNPU | Likely benign | 1060504189 | RCV000464439; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023673 | 245023673 | | | NC_000001.10:g.245023673A>G | ClinGen:CA16610093 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.927T>C (p.Ser309=) | 3192 | HNRNPU | Likely benign | 2102988078 | RCV003104103; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023727 | 245023727 | | | 245023727 | - | | |
NM_031844.3(HNRNPU):c.916C>T (p.Leu306Phe) | 3192 | HNRNPU | Uncertain significance | 1447036653 | RCV002561433|RCV003348649; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245023738 | 245023738 | | | 245023738 | - | | |
NM_031844.3(HNRNPU):c.914G>A (p.Arg305His) | 3192 | HNRNPU | Uncertain significance | 756460435 | RCV001650487; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023740 | 245023740 | | | 245023740 | - | | |
NM_031844.3(HNRNPU):c.906_907del (p.Asp304fs) | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002481166; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023747 | 245023748 | | | NC_000001.10:g.245023747_245023748del | - | | |
NM_031844.3(HNRNPU):c.891A>G (p.Leu297=) | 3192 | HNRNPU | Likely benign | 1246066090 | RCV002552988; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023763 | 245023763 | | | 245023763 | - | | |
NM_031844.3(HNRNPU):c.878-3C>T | 3192 | HNRNPU | Uncertain significance | 1680796982 | RCV003103952; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023779 | 245023779 | | | 245023779 | - | | |
NM_031844.3(HNRNPU):c.878-5T>G | 3192 | HNRNPU | Uncertain significance | 2102988100 | RCV002573397; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023781 | 245023781 | | | 245023781 | - | | |
NM_031844.3(HNRNPU):c.878-9T>C | 3192 | HNRNPU | Benign | 573967558 | RCV001644846|RCV002536249; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023785 | 245023785 | | | 1:g.245023785A>G | - | | |
NM_031844.3(HNRNPU):c.878-10A>G | 3192 | HNRNPU | Likely benign | 758558193 | RCV002548464; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023786 | 245023786 | | | 245023786 | - | | |
NM_031844.3(HNRNPU):c.878-12A>T | 3192 | HNRNPU | Likely benign | -1 | RCV002721070; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023788 | 245023788 | | | NC_000001.10:g.245023788T>A | - | | |
NM_031844.3(HNRNPU):c.878-12A>G | 3192 | HNRNPU | Likely benign | -1 | RCV002775637; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023788 | 245023788 | | | NC_000001.10:g.245023788T>C | - | | |
NM_031844.3(HNRNPU):c.878-13G>T | 3192 | HNRNPU | Likely benign | 115293649 | RCV002561583; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023789 | 245023789 | | | 245023789 | - | | |
NM_031844.3(HNRNPU):c.878-13G>A | 3192 | HNRNPU | Likely benign | 115293649 | RCV003006999; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023789 | 245023789 | | | 245023789 | - | | |
NM_031844.3(HNRNPU):c.878-21_878-20del | 3192 | HNRNPU | Likely benign | -1 | RCV002938013; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245023796 | 245023797 | | | NC_000001.10:g.245023797GT[1] | - | | |
NM_031844.3(HNRNPU):c.877+16dup | 3192 | HNRNPU | Likely benign | 745911562 | RCV002982114; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025746 | 245025747 | | | 245025746 | - | | |
NC_000001.10:g.(?_245025750)_(245027576_?)del | 3192 | HNRNPU | Likely pathogenic | -1 | RCV003122819; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025750 | 245027576 | | | | - | | |
NM_031844.3(HNRNPU):c.877+13G>T | 3192 | HNRNPU | Likely benign | -1 | RCV002735602; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025750 | 245025750 | | | NC_000001.10:g.245025750C>A | - | | |
NM_031844.3(HNRNPU):c.877+12T>G | 3192 | HNRNPU | Likely benign | 1295049956 | RCV003104173; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025751 | 245025751 | | | 245025751 | - | | |
NM_031844.3(HNRNPU):c.877+9A>G | 3192 | HNRNPU | Likely benign | -1 | RCV003069287; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025754 | 245025754 | | | NC_000001.10:g.245025754T>C | - | | |
NM_031844.3(HNRNPU):c.875C>T (p.Thr292Ile) | 3192 | HNRNPU | Likely benign | 141449330 | RCV001534908|RCV002525545; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025765 | 245025765 | | | NC_000001.10:g.245025765G>A | ClinGen:CA1486669 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.857_858del (p.Thr286fs) | 3192 | HNRNPU | Likely pathogenic | 2102989374 | RCV001782258; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025782 | 245025783 | | | 245025781 | - | | |
NM_031844.3(HNRNPU):c.849C>T (p.Phe283=) | 3192 | HNRNPU | Likely benign | 200804217 | RCV002563279; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025791 | 245025791 | | | 245025791 | - | | |
NM_031844.3(HNRNPU):c.831AGA[2] (p.Glu279del) | 3192 | HNRNPU | Uncertain significance | 747301226 | RCV000412787|RCV002480265; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025801 | 245025803 | | | 1:g.245025801_245025803del | ClinGen:CA1486675 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.839A>G (p.Asp280Gly) | 3192 | HNRNPU | Uncertain significance | 1168497628 | RCV002563659; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025801 | 245025801 | | | 1:g.245025801T>C | - | | |
NM_031844.3(HNRNPU):c.837A>T (p.Glu279Asp) | 3192 | HNRNPU | Likely benign | 538951206 | RCV002529970; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025803 | 245025803 | | | 1:g.245025803T>A | ClinGen:CA1486677 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.817C>A (p.Gln273Lys) | 3192 | HNRNPU | Uncertain significance | 373483406 | RCV002553128; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025823 | 245025823 | | | 1:g.245025823G>T | - | | |
NM_031844.3(HNRNPU):c.813T>G (p.Ser271=) | 3192 | HNRNPU | Likely benign | 377602750 | RCV002561286; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025827 | 245025827 | | | 245025827 | - | | |
NM_031844.3(HNRNPU):c.804-3C>T | 3192 | HNRNPU | Uncertain significance | 1558189513 | RCV002562422; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025839 | 245025839 | | | 1:g.245025839G>A | - | | |
NM_031844.3(HNRNPU):c.804-9_804-6del | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 2102989400 | RCV002250049; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025842 | 245025845 | | | 245025841 | - | | |
NM_031844.3(HNRNPU):c.804-7C>T | 3192 | HNRNPU | Likely benign | 370940607 | RCV002555164; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025843 | 245025843 | | | 245025843 | - | | |
NM_031844.3(HNRNPU):c.804-9_804-8del | 3192 | HNRNPU | Uncertain significance | 2102989406 | RCV003104165; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025844 | 245025845 | | | 245025843 | - | | |
NM_031844.3(HNRNPU):c.804-14dup | 3192 | HNRNPU | Likely benign | -1 | RCV002947225; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025849 | 245025850 | | | NC_000001.10:g.245025851dup | - | | |
NM_031844.3(HNRNPU):c.803+18A>G | 3192 | HNRNPU | Likely benign | -1 | RCV003028030; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025903 | 245025903 | | | NC_000001.10:g.245025903T>C | - | | |
NM_031844.3(HNRNPU):c.803+17T>A | 3192 | HNRNPU | Likely benign | -1 | RCV002922914; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025904 | 245025904 | | | NC_000001.10:g.245025904A>T | - | | |
NM_031844.3(HNRNPU):c.803+16C>A | 3192 | HNRNPU | Likely benign | 1344199750 | RCV003025403; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025905 | 245025905 | | | 245025905 | - | | |
NM_031844.3(HNRNPU):c.803+16C>T | 3192 | HNRNPU | Likely benign | -1 | RCV002715394; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025905 | 245025905 | | | NC_000001.10:g.245025905G>A | - | | |
NM_031844.3(HNRNPU):c.803+14A>C | 3192 | HNRNPU | Likely benign | -1 | RCV002639037; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025907 | 245025907 | | | NC_000001.10:g.245025907T>G | - | | |
NM_031844.3(HNRNPU):c.803+14A>G | 3192 | HNRNPU | Likely benign | -1 | RCV003002799; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025907 | 245025907 | | | NC_000001.10:g.245025907T>C | - | | |
NM_031844.3(HNRNPU):c.803+12T>A | 3192 | HNRNPU | Likely benign | 777993902 | RCV002562970; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025909 | 245025909 | | | 245025909 | - | | |
NM_031844.3(HNRNPU):c.803+11C>T | 3192 | HNRNPU | Benign | 74152197 | RCV001649631|RCV002539582; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025910 | 245025910 | | | 245025910 | - | | |
NM_031844.3(HNRNPU):c.803+7G>A | 3192 | HNRNPU | Likely benign | -1 | RCV002923827; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025914 | 245025914 | | | NC_000001.10:g.245025914C>T | - | | |
NM_031844.3(HNRNPU):c.803+2T>C | 3192 | HNRNPU | Likely pathogenic | 112081356 | RCV002550961; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025919 | 245025919 | | | 245025919 | - | | |
NM_031844.3(HNRNPU):c.754G>T (p.Asp252Tyr) | 3192 | HNRNPU | Uncertain significance | 1680869300 | RCV002568631; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025970 | 245025970 | | | 1:g.245025970C>A | - | | |
NM_031844.3(HNRNPU):c.734_738dup (p.Lys247fs) | 3192 | HNRNPU | Pathogenic | -1 | RCV003038131; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025985 | 245025986 | | | NC_000001.10:g.245025986_245025990dup | - | | |
NM_031844.3(HNRNPU):c.734G>T (p.Gly245Val) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002872384; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025990 | 245025990 | | | NC_000001.10:g.245025990C>A | - | | |
NM_031844.3(HNRNPU):c.730_731del (p.Arg244fs) | 3192 | HNRNPU | Pathogenic | 2102989487 | RCV002563628; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245025993 | 245025994 | | | 245025992 | - | | |
NM_031844.3(HNRNPU):c.715G>A (p.Gly239Ser) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 1014292464 | RCV003053382; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026009 | 245026009 | | | 245026009 | - | | |
NM_031844.3(HNRNPU):c.705A>G (p.Thr235=) | 3192 | HNRNPU | Likely benign | 2102989500 | RCV002561986; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026019 | 245026019 | | | 245026019 | - | | |
NM_031844.3(HNRNPU):c.692-3T>C | 3192 | HNRNPU | Uncertain significance | 760130988 | RCV002537455; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026035 | 245026035 | | | 1:g.245026035A>G | - | | |
NM_031844.3(HNRNPU):c.692-7G>A | 3192 | HNRNPU | Likely benign | 1315333777 | RCV003007035; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026039 | 245026039 | | | 245026039 | - | | |
NM_031844.3(HNRNPU):c.692-14C>T | 3192 | HNRNPU | Benign | 201729220 | RCV003081108; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026046 | 245026046 | | | 245026046 | - | | |
NM_031844.3(HNRNPU):c.692-17G>A | 3192 | HNRNPU | Likely benign | -1 | RCV002880684; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026049 | 245026049 | | | NC_000001.10:g.245026049C>T | - | | |
NM_031844.3(HNRNPU):c.143_691+113del | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002967115; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026806 | 245027467 | | | NC_000001.10:g.245026810_245027471del | - | | |
NM_031844.3(HNRNPU):c.669_691+32del | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002675800; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026887 | 245026941 | | | NC_000001.10:g.245026894_245026948del | - | | |
NM_031844.3(HNRNPU):c.691+18C>T | 3192 | HNRNPU | Likely benign | 765471448 | RCV003081030; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026901 | 245026901 | | | 245026901 | - | | |
NM_031844.3(HNRNPU):c.691+16T>G | 3192 | HNRNPU | Likely benign | -1 | RCV003027726; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026903 | 245026903 | | | NC_000001.10:g.245026903A>C | - | | |
NM_031844.3(HNRNPU):c.691+10G>A | 3192 | HNRNPU | Likely benign | 1023031250 | RCV002561595; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026909 | 245026909 | | | 245026909 | - | | |
NM_031844.3(HNRNPU):c.691+8C>T | 3192 | HNRNPU | Likely benign | 751316536 | RCV002562303; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026911 | 245026911 | | | 245026911 | - | | |
NM_031844.3(HNRNPU):c.669_691dup (p.Gly231fs) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 754216321 | RCV002568514|RCV003156366; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MedGen:C3661900 | 1 | 245026918 | 245026919 | | | 245026918 | - | | |
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 754216321 | RCV001839359; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026919 | 245026941 | | | 245026918 | - | | |
NM_031844.3(HNRNPU):c.687G>A (p.Ala229=) | 3192 | HNRNPU | Benign | -1 | RCV003082721; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026923 | 245026923 | | | | - | | |
NM_031844.3(HNRNPU):c.685G>C (p.Ala229Pro) | 3192 | HNRNPU | Uncertain significance | 2102990410 | RCV002592620; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026925 | 245026925 | | | 245026925 | - | | |
NM_031844.3(HNRNPU):c.683C>G (p.Pro228Arg) | 3192 | HNRNPU | Uncertain significance | 752642837 | RCV002544991; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026927 | 245026927 | | | 245026927 | - | | |
NM_031844.3(HNRNPU):c.680C>T (p.Ala227Val) | 3192 | HNRNPU | Likely benign | 755670533 | RCV001585711|RCV002535892|RCV002536962; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026930 | 245026930 | | | 1:g.245026930G>A | - | | |
NM_031844.3(HNRNPU):c.679G>T (p.Ala227Ser) | 3192 | HNRNPU | Uncertain significance | 1680916587 | RCV002547954; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026931 | 245026931 | | | 245026931 | - | | |
NM_031844.3(HNRNPU):c.675C>T (p.Pro225=) | 3192 | HNRNPU | Likely benign | -1 | RCV002626215; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026935 | 245026935 | | | | - | | |
NM_031844.3(HNRNPU):c.674C>G (p.Pro225Arg) | 3192 | HNRNPU | Likely benign | 1429007292 | RCV003025401; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026936 | 245026936 | | | 245026936 | - | | |
NM_031844.3(HNRNPU):c.651AGGCGGCGG[1] (p.Gly221_Gly223del) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 757585114 | RCV001558451|RCV002533750; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026942 | 245026950 | | | NC_000001.10:g.245026942CCGCCGCCT[1] | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs) | 3192 | HNRNPU | Pathogenic | 779453109 | RCV001528287|RCV002246157; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026949 | 245026950 | | | 245026949 | - | | |
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 779453109 | RCV000496191|RCV001169868|RCV001551156; | N | Human Phenotype Ontology:HP:0200134,MedGen:C0543888|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MedGen:C3661900 | 1 | 245026950 | 245026959 | | | 1:g.245026950_245026959del | ClinGen:CA1486757 | C0543888 Epileptic encephalopathy; | |
NM_031844.3(HNRNPU):c.659G>T (p.Gly220Val) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 1463061163 | RCV002550122|RCV003320835; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MedGen:C3661900 | 1 | 245026951 | 245026951 | | | 245026951 | - | | |
NM_031844.3(HNRNPU):c.652G>A (p.Gly218Ser) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003065013; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026958 | 245026958 | | | NC_000001.10:g.245026958C>T | - | | |
NM_031844.3(HNRNPU):c.643_652del (p.Lys215fs) | 3192 | HNRNPU | Likely pathogenic | -1 | RCV003225912; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026958 | 245026967 | | | NC_000001.10:g.245026962_245026971del | - | | |
NM_031844.3(HNRNPU):c.649G>A (p.Glu217Lys) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003074877; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026961 | 245026961 | | | NC_000001.10:g.245026961C>T | - | | |
NM_031844.3(HNRNPU):c.637AAG[2] (p.Lys215del) | 3192 | HNRNPU | Uncertain significance | 750936227 | RCV002546173; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026965 | 245026967 | | | 245026964 | - | | |
NM_031844.3(HNRNPU):c.643_644delinsGC (p.Lys215Ala) | 3192 | HNRNPU | Uncertain significance | 1573337510 | RCV002534753; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026966 | 245026967 | | | NC_000001.10:g.245026966_245026967delinsGC | - | | |
NM_031844.3(HNRNPU):c.635G>C (p.Gly212Ala) | 3192 | HNRNPU | Uncertain significance | 2102990472 | RCV002545378; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026975 | 245026975 | | | 245026975 | - | | |
NM_031844.3(HNRNPU):c.624G>A (p.Gln208=) | 3192 | HNRNPU | Likely benign | 1372261485 | RCV003053429; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026986 | 245026986 | | | 245026986 | - | | |
NM_031844.3(HNRNPU):c.622C>G (p.Gln208Glu) | 3192 | HNRNPU | Uncertain significance | 1573337552 | RCV002495107; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026988 | 245026988 | | | 1:g.245026988G>C | - | | |
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 1573337552 | RCV001217213|RCV001261515; | N | |MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026988 | 245026988 | | | 1:g.245026988G>A | - | | |
NM_031844.3(HNRNPU):c.621G>A (p.Gln207=) | 3192 | HNRNPU | Likely benign | 759528610 | RCV000547113|RCV002316465|RCV002525007; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026989 | 245026989 | | | NC_000001.10:g.245026989C>T | ClinGen:CA1486765 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.621G>C (p.Gln207His) | 3192 | HNRNPU | Uncertain significance | 759528610 | RCV003106203; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026989 | 245026989 | | | 245026989 | - | | |
NM_031844.3(HNRNPU):c.615G>A (p.Gln205=) | 3192 | HNRNPU | Likely benign | 1221660331 | RCV002563265; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026995 | 245026995 | | | 245026995 | - | | |
NM_031844.3(HNRNPU):c.614A>G (p.Gln205Arg) | 3192 | HNRNPU | Uncertain significance | 1553283825 | RCV002529971; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026996 | 245026996 | | | 1:g.245026996T>C | ClinGen:CA345496333 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.611G>C (p.Arg204Thr) | 3192 | HNRNPU | Uncertain significance | 201849132 | RCV002563177; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245026999 | 245026999 | | | 1:g.245026999C>G | - | | |
NM_031844.3(HNRNPU):c.610A>G (p.Arg204Gly) | 3192 | HNRNPU | Uncertain significance | 2102990496 | RCV002642169; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027000 | 245027000 | | | 245027000 | - | | |
NM_031844.3(HNRNPU):c.609G>A (p.Ala203=) | 3192 | HNRNPU | Likely benign | 1204338667 | RCV002555520; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027001 | 245027001 | | | 245027001 | - | | |
NM_031844.3(HNRNPU):c.608C>A (p.Ala203Glu) | 3192 | HNRNPU | Uncertain significance | 769942155 | RCV003103900; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027002 | 245027002 | | | 1:g.245027002G>T | - | | |
NM_031844.3(HNRNPU):c.603C>G (p.Pro201=) | 3192 | HNRNPU | Likely benign | 759371036 | RCV002562644; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027007 | 245027007 | | | 245027007 | - | | |
NM_031844.3(HNRNPU):c.603C>T (p.Pro201=) | 3192 | HNRNPU | Likely benign | 759371036 | RCV002564179; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027007 | 245027007 | | | 245027007 | - | | |
NM_031844.3(HNRNPU):c.601C>T (p.Pro201Ser) | 3192 | HNRNPU | Uncertain significance | 985639804 | RCV002538439; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027009 | 245027009 | | | 245027009 | - | | |
NM_031844.3(HNRNPU):c.600G>A (p.Pro200=) | 3192 | HNRNPU | Likely benign | -1 | RCV003047414; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027010 | 245027010 | | | | - | | |
NM_031844.3(HNRNPU):c.599C>T (p.Pro200Leu) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002588730; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027011 | 245027011 | | | NC_000001.10:g.245027011G>A | - | | |
NM_031844.3(HNRNPU):c.598C>G (p.Pro200Ala) | 3192 | HNRNPU | Likely benign | 2102990517 | RCV002551264; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027012 | 245027012 | | | 245027012 | - | | |
NM_031844.3(HNRNPU):c.596C>T (p.Ala199Val) | 3192 | HNRNPU | Uncertain significance | 1680920689 | RCV002554597; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027014 | 245027014 | | | 1:g.245027014G>A | - | | |
NM_031844.3(HNRNPU):c.591G>C (p.Thr197=) | 3192 | HNRNPU | Likely benign | 1159406089 | RCV002553690; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027019 | 245027019 | | | 245027019 | - | | |
NM_031844.3(HNRNPU):c.590C>T (p.Thr197Met) | 3192 | HNRNPU | not provided | -1 | RCV003233258; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027020 | 245027020 | | | | - | | |
NM_031844.3(HNRNPU):c.583G>A (p.Ala195Thr) | 3192 | HNRNPU | Likely benign | -1 | RCV002761478; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027027 | 245027027 | | | NC_000001.10:g.245027027C>T | - | | |
NM_031844.3(HNRNPU):c.575C>A (p.Ser192Ter) | 3192 | HNRNPU | Pathogenic | 1333692140 | RCV001254081; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027035 | 245027035 | | | 1:g.245027035G>T | - | | |
NM_031844.3(HNRNPU):c.573C>T (p.Thr191=) | 3192 | HNRNPU | Likely benign | 1295513946 | RCV003081067; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027037 | 245027037 | | | 245027037 | - | | |
NM_031844.3(HNRNPU):c.568C>G (p.Pro190Ala) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 1680921689 | RCV002350753|RCV002552692; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027042 | 245027042 | | | 245027042 | - | | |
NM_031844.3(HNRNPU):c.565G>A (p.Gly189Ser) | 3192 | HNRNPU | Uncertain significance | 368440067 | RCV002561559; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027045 | 245027045 | | | 245027045 | - | | |
NM_031844.3(HNRNPU):c.564C>G (p.Ser188Arg) | 3192 | HNRNPU | Uncertain significance | 2102990549 | RCV002555800; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027046 | 245027046 | | | 245027046 | - | | |
NM_031844.3(HNRNPU):c.561C>T (p.Ser187=) | 3192 | HNRNPU | Likely benign | 750106010 | RCV002553405; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027049 | 245027049 | | | 245027049 | - | | |
NM_031844.3(HNRNPU):c.560G>C (p.Ser187Thr) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003135608; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027050 | 245027050 | | | NC_000001.10:g.245027050C>G | - | | |
NM_031844.3(HNRNPU):c.554G>T (p.Gly185Val) | 3192 | HNRNPU | Uncertain significance | 1573337696 | RCV002537376; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027056 | 245027056 | | | 1:g.245027056C>A | - | | |
NM_031844.3(HNRNPU):c.553G>A (p.Gly185Arg) | 3192 | HNRNPU | Uncertain significance | 780326561 | RCV001333300; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027057 | 245027057 | | | 245027057 | - | | |
NM_031844.3(HNRNPU):c.551C>T (p.Ala184Val) | 3192 | HNRNPU | Uncertain significance | 1680922433 | RCV002556326; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027059 | 245027059 | | | 245027059 | - | | |
NM_031844.3(HNRNPU):c.548C>T (p.Ala183Val) | 3192 | HNRNPU | Uncertain significance | 1680922606 | RCV002545325; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027062 | 245027062 | | | 245027062 | - | | |
NM_031844.3(HNRNPU):c.546G>T (p.Glu182Asp) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002721177; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027064 | 245027064 | | | NC_000001.10:g.245027064C>A | - | | |
NM_031844.3(HNRNPU):c.543G>A (p.Lys181=) | 3192 | HNRNPU | Likely benign | -1 | RCV003060819; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027067 | 245027067 | | | | - | | |
NM_031844.3(HNRNPU):c.542A>G (p.Lys181Arg) | 3192 | HNRNPU | Benign/Likely benign | 747403316 | RCV002348440|RCV002554431; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027068 | 245027068 | | | 1:g.245027068T>C | - | | |
NM_031844.3(HNRNPU):c.541A>G (p.Lys181Glu) | 3192 | HNRNPU | Uncertain significance | 1680922737 | RCV001333299; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027069 | 245027069 | | | 245027069 | - | | |
NM_031844.3(HNRNPU):c.535GCC[1] (p.Ala180del) | 3192 | HNRNPU | Uncertain significance | 2102990578 | RCV002569319; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027070 | 245027072 | | | 245027069 | - | | |
NM_031844.3(HNRNPU):c.535G>A (p.Ala179Thr) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003011187|RCV003170838; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245027075 | 245027075 | | | NC_000001.10:g.245027075C>T | - | | |
NM_031844.3(HNRNPU):c.533G>C (p.Gly178Ala) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 1345467904 | RCV002269329|RCV002552439; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027077 | 245027077 | | | 1:g.245027077C>G | - | | |
NM_031844.3(HNRNPU):c.531C>A (p.Arg177=) | 3192 | HNRNPU | Likely benign | 376987913 | RCV002510765|RCV002350849; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245027079 | 245027079 | | | 245027079 | - | | |
NM_031844.3(HNRNPU):c.528G>C (p.Gln176His) | 3192 | HNRNPU | Benign | -1 | RCV003042091; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027082 | 245027082 | | | NC_000001.10:g.245027082C>G | - | | |
NM_031844.3(HNRNPU):c.523C>A (p.Gln175Lys) | 3192 | HNRNPU | Uncertain significance | 769831589 | RCV002562138; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027087 | 245027087 | | | 245027087 | - | | |
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter) | 3192 | HNRNPU | Pathogenic | 886041983 | RCV000351851|RCV002272203; | N | MedGen:CN517202|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027090 | 245027090 | | | 1:g.245027090G>A | ClinGen:CA10602784 | CN517202 not provided; | |
NM_031844.3(HNRNPU):c.520del (p.Gln174fs) | 3192 | HNRNPU | Likely pathogenic | 2102990594 | RCV002052102; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027090 | 245027090 | | | 245027089 | - | | |
NM_031844.3(HNRNPU):c.519C>G (p.Pro173=) | 3192 | HNRNPU | Likely benign | 1680923601 | RCV003061716; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027091 | 245027091 | | | 245027091 | - | | |
NM_031844.3(HNRNPU):c.516G>C (p.Gln172His) | 3192 | HNRNPU | Uncertain significance | 1393651101 | RCV002532246; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027094 | 245027094 | | | 1:g.245027094C>G | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.516G>T (p.Gln172His) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002806511; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027094 | 245027094 | | | NC_000001.10:g.245027094C>A | - | | |
NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter) | 3192 | HNRNPU | Pathogenic | 1057524915 | RCV000445561; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027099 | 245027099 | | | NC_000001.10:g.245027099G>A | ClinGen:CA16609280,OMIM:602869.0002 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.508C>T (p.Gln170Ter) | 3192 | HNRNPU | not provided | 2102990610 | RCV001822086; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027102 | 245027102 | | | 245027102 | - | | |
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=) | 3192 | HNRNPU | Benign/Likely benign | 139561508 | RCV000558591|RCV001821448|RCV002314897|RCV002525006; | N | MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027103 | 245027103 | | | NC_000001.10:g.245027103C>T | ClinGen:CA1486787 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.507G>C (p.Gln169His) | 3192 | HNRNPU | Likely benign | 139561508 | RCV002551378; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027103 | 245027103 | | | 1:g.245027103C>G | - | | |
NM_031844.3(HNRNPU):c.506A>G (p.Gln169Arg) | 3192 | HNRNPU | Benign | 1680924291 | RCV003007141; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027104 | 245027104 | | | 245027104 | - | | |
NM_031844.3(HNRNPU):c.503C>T (p.Thr168Met) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002848086|RCV002880411; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245027107 | 245027107 | | | NC_000001.10:g.245027107G>A | - | | |
NM_031844.3(HNRNPU):c.492A>G (p.Gln164=) | 3192 | HNRNPU | Likely benign | 982861371 | RCV002539089; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027118 | 245027118 | | | 1:g.245027118T>C | - | | |
NM_031844.3(HNRNPU):c.490C>T (p.Gln164Ter) | 3192 | HNRNPU | Pathogenic | -1 | RCV003127464; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027120 | 245027120 | | | NC_000001.10:g.245027120G>A | - | | |
NM_031844.3(HNRNPU):c.489T>G (p.Pro163=) | 3192 | HNRNPU | Likely benign | 760562563 | RCV001816083|RCV002541507; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027121 | 245027121 | | | 245027121 | - | | |
NM_031844.3(HNRNPU):c.489T>C (p.Pro163=) | 3192 | HNRNPU | Likely benign | 760562563 | RCV003007050; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027121 | 245027121 | | | 245027121 | - | | |
NM_031844.3(HNRNPU):c.487C>T (p.Pro163Ser) | 3192 | HNRNPU | Benign | -1 | RCV002725859; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027123 | 245027123 | | | NC_000001.10:g.245027123G>A | - | | |
NM_031844.3(HNRNPU):c.484C>T (p.Gln162Ter) | 3192 | HNRNPU | Likely pathogenic | -1 | RCV003142412; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027126 | 245027126 | | | NC_000001.10:g.245027126G>A | - | | |
NM_031844.3(HNRNPU):c.481C>T (p.Gln161Ter) | 3192 | HNRNPU | Pathogenic | 1553283899 | RCV000515619; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027129 | 245027129 | | | NC_000001.10:g.245027129G>A | ClinGen:CA345496906 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.470G>A (p.Gly157Glu) | 3192 | HNRNPU | Uncertain significance | 1195258707 | RCV001198003; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027140 | 245027140 | | | 1:g.245027140C>T | - | | |
NM_031844.3(HNRNPU):c.469G>C (p.Gly157Arg) | 3192 | HNRNPU | Likely benign | 1680925526 | RCV002543511; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027141 | 245027141 | | | 245027141 | - | | |
NM_031844.3(HNRNPU):c.469G>A (p.Gly157Arg) | 3192 | HNRNPU | Likely benign | -1 | RCV003039709; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027141 | 245027141 | | | NC_000001.10:g.245027141C>T | - | | |
NM_031844.3(HNRNPU):c.468C>A (p.Asn156Lys) | 3192 | HNRNPU | Uncertain significance | 1257142702 | RCV002545354; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027142 | 245027142 | | | 245027142 | - | | |
NM_031844.3(HNRNPU):c.465G>T (p.Glu155Asp) | 3192 | HNRNPU | Uncertain significance | 776778115 | RCV001199195; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027145 | 245027145 | | | 1:g.245027145C>A | - | | |
NM_031844.3(HNRNPU):c.465G>A (p.Glu155=) | 3192 | HNRNPU | Likely benign | 776778115 | RCV003053428; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027145 | 245027145 | | | 245027145 | - | | |
NM_031844.3(HNRNPU):c.458G>A (p.Gly153Asp) | 3192 | HNRNPU | Likely benign | 369208639 | RCV002539092|RCV003169170; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245027152 | 245027152 | | | 1:g.245027152C>T | - | | |
NM_031844.3(HNRNPU):c.457G>C (p.Gly153Arg) | 3192 | HNRNPU | Uncertain significance | 1680925916 | RCV002547386; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027153 | 245027153 | | | 245027153 | - | | |
NM_031844.3(HNRNPU):c.455C>T (p.Ala152Val) | 3192 | HNRNPU | Likely benign | 1680926034 | RCV002562579; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027155 | 245027155 | | | 1:g.245027155G>A | - | | |
NM_031844.3(HNRNPU):c.451G>A (p.Gly151Ser) | 3192 | HNRNPU | Benign | -1 | RCV002706404; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027159 | 245027159 | | | NC_000001.10:g.245027159C>T | - | | |
NM_031844.3(HNRNPU):c.451G>T (p.Gly151Cys) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003022442; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027159 | 245027159 | | | NC_000001.10:g.245027159C>A | - | | |
NM_031844.3(HNRNPU):c.446A>G (p.Glu149Gly) | 3192 | HNRNPU | Uncertain significance | 375569535 | RCV002331511|RCV002563453; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027164 | 245027164 | | | 245027164 | - | | |
NM_031844.3(HNRNPU):c.429_446del (p.Asp143_Glu148del) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003135607; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027164 | 245027181 | | | NC_000001.10:g.245027169_245027186del | - | | |
NM_031844.3(HNRNPU):c.444A>G (p.Glu148=) | 3192 | HNRNPU | Likely benign | -1 | RCV003088146; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027166 | 245027166 | | | | - | | |
NM_031844.3(HNRNPU):c.441C>G (p.Asp147Glu) | 3192 | HNRNPU | Benign | 539279281 | RCV002538001; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027169 | 245027169 | | | 1:g.245027169G>C | - | | |
NM_031844.3(HNRNPU):c.441C>A (p.Asp147Glu) | 3192 | HNRNPU | Uncertain significance | 539279281 | RCV002547849; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027169 | 245027169 | | | 245027169 | - | | |
NM_031844.3(HNRNPU):c.441C>T (p.Asp147=) | 3192 | HNRNPU | Likely benign | -1 | RCV003042956; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027169 | 245027169 | | | | - | | |
NM_031844.3(HNRNPU):c.439G>A (p.Asp147Asn) | 3192 | HNRNPU | Likely benign | 781659437 | RCV002532340; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027171 | 245027171 | | | NC_000001.10:g.245027171C>T | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.423G>T (p.Gly141=) | 3192 | HNRNPU | Uncertain significance | 777752880 | RCV002564021; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027187 | 245027187 | | | 1:g.245027187C>A | - | | |
NM_031844.3(HNRNPU):c.421G>A (p.Gly141Arg) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002472219; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027189 | 245027189 | | | NC_000001.10:g.245027189C>T | - | | |
NM_031844.3(HNRNPU):c.420A>C (p.Glu140Asp) | 3192 | HNRNPU | Uncertain significance | 1325726632 | RCV002293490|RCV002332723|RCV002535989; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027190 | 245027190 | | | 1:g.245027190T>G | - | | |
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter) | 3192 | HNRNPU | Likely pathogenic | 1573337948 | RCV000986583; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027195 | 245027195 | | | 1:g.245027195G>A | - | | |
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) | 3192 | HNRNPU | Likely pathogenic | 1553283916 | RCV000585859; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027208 | 245027209 | | | 1:g.245027208_245027209del | ClinGen:CA658683174 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.402C>T (p.Asp134=) | 3192 | HNRNPU | Likely benign | 1263252282 | RCV002563324; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027208 | 245027208 | | | 245027208 | - | | |
NM_031844.3(HNRNPU):c.394A>G (p.Asn132Asp) | 3192 | HNRNPU | Uncertain significance | 1414347355 | RCV002543184; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027216 | 245027216 | | | 245027216 | - | | |
NM_031844.3(HNRNPU):c.393G>A (p.Glu131=) | 3192 | HNRNPU | Likely benign | 1262700547 | RCV002529977; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027217 | 245027217 | | | 1:g.245027217C>T | ClinGen:CA424403261 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.390C>T (p.Asp130=) | 3192 | HNRNPU | Likely benign | 200754123 | RCV002562645; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027220 | 245027220 | | | 245027220 | - | | |
NM_031844.3(HNRNPU):c.384G>A (p.Ser128=) | 3192 | HNRNPU | Likely benign | 2102990726 | RCV002368329|RCV002555518; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027226 | 245027226 | | | 245027226 | - | | |
NM_031844.3(HNRNPU):c.380C>T (p.Ala127Val) | 3192 | HNRNPU | Uncertain significance | 776690627 | RCV000515626; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027230 | 245027230 | | | NC_000001.10:g.245027230G>A | ClinGen:CA1486809 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.378C>T (p.Ala126=) | 3192 | HNRNPU | Likely benign | -1 | RCV002740768; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027232 | 245027232 | | | | - | | |
NM_031844.3(HNRNPU):c.365AGG[5] (p.Glu125dup) | 3192 | HNRNPU | Uncertain significance | 747108904 | RCV002533627; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027233 | 245027234 | | | NC_000001.10:g.245027236TCC[5] | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.365AGG[3] (p.Glu125del) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 747108904 | RCV000515617|RCV000544136|RCV001662523; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391||MedGen:CN517202 | 1 | 245027234 | 245027236 | | | NC_000001.10:g.245027236TCC[3] | ClinGen:CA1486810 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.375G>A (p.Glu125=) | 3192 | HNRNPU | Likely benign | 752671029 | RCV003007049; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027235 | 245027235 | | | 245027235 | - | | |
NM_031844.3(HNRNPU):c.370G>C (p.Glu124Gln) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002823696; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027240 | 245027240 | | | NC_000001.10:g.245027240C>G | - | | |
NM_031844.3(HNRNPU):c.361A>G (p.Met121Val) | 3192 | HNRNPU | Uncertain significance | 1388856266 | RCV002563681; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027249 | 245027249 | | | 1:g.245027249T>C | - | | |
NM_031844.3(HNRNPU):c.359C>G (p.Pro120Arg) | 3192 | HNRNPU | Benign | 1455165658 | RCV002544615; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027251 | 245027251 | | | 1:g.245027251G>C | - | | |
NM_031844.3(HNRNPU):c.336_351del (p.Ala113fs) | 3192 | HNRNPU | Pathogenic | -1 | RCV002842802; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027259 | 245027274 | | | NC_000001.10:g.245027260_245027275del | - | | |
NM_031844.3(HNRNPU):c.347C>T (p.Ala116Val) | 3192 | HNRNPU | Uncertain significance | 1680929668 | RCV002568557; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027263 | 245027263 | | | 1:g.245027263G>A | - | | |
NM_031844.3(HNRNPU):c.336C>T (p.Ala112=) | 3192 | HNRNPU | Likely benign | 753169165 | RCV000515637|RCV002455989; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245027274 | 245027274 | | | NC_000001.10:g.245027274G>A | ClinGen:CA1486821 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.336C>G (p.Ala112=) | 3192 | HNRNPU | Likely benign | 753169165 | RCV002454326|RCV002551242; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027274 | 245027274 | | | 245027274 | - | | |
NM_031844.3(HNRNPU):c.325G>T (p.Glu109Ter) | 3192 | HNRNPU | Pathogenic | 1680930166 | RCV002557685; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027285 | 245027285 | | | 245027285 | - | | |
NM_031844.3(HNRNPU):c.325G>C (p.Glu109Gln) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002471375; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027285 | 245027285 | | | NC_000001.10:g.245027285C>G | - | | |
NM_031844.3(HNRNPU):c.324G>A (p.Glu108=) | 3192 | HNRNPU | Likely benign | -1 | RCV002863118; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027286 | 245027286 | | | | - | | |
NM_031844.3(HNRNPU):c.318A>G (p.Leu106=) | 3192 | HNRNPU | Likely benign | 1003329200 | RCV002539063; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027292 | 245027292 | | | 1:g.245027292T>C | - | | |
NM_031844.3(HNRNPU):c.317T>C (p.Leu106Pro) | 3192 | HNRNPU | Uncertain significance | 369111527 | RCV002543161; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027293 | 245027293 | | | 245027293 | - | | |
NM_031844.3(HNRNPU):c.316C>T (p.Leu106=) | 3192 | HNRNPU | Likely benign | 778359181 | RCV002553986; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027294 | 245027294 | | | 245027294 | - | | |
NM_031844.3(HNRNPU):c.316C>G (p.Leu106Val) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003042996; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027294 | 245027294 | | | NC_000001.10:g.245027294G>C | - | | |
NM_031844.3(HNRNPU):c.307C>T (p.Gln103Ter) | 3192 | HNRNPU | Pathogenic | 1553283951 | RCV002525546; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027303 | 245027303 | | | NC_000001.10:g.245027303G>A | ClinGen:CA16610079 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.302G>A (p.Gly101Asp) | 3192 | HNRNPU | Uncertain significance | 1680930913 | RCV003103975; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027308 | 245027308 | | | 245027308 | - | | |
NM_031844.3(HNRNPU):c.301G>C (p.Gly101Arg) | 3192 | HNRNPU | Likely benign | 1680930955 | RCV002541914; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027309 | 245027309 | | | 245027309 | - | | |
NM_031844.3(HNRNPU):c.291C>T (p.Ser97=) | 3192 | HNRNPU | Likely benign | -1 | RCV002750228; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027319 | 245027319 | | | | - | | |
NM_031844.3(HNRNPU):c.290C>T (p.Ser97Phe) | 3192 | HNRNPU | Uncertain significance | 1479183749 | RCV002553496; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027320 | 245027320 | | | 245027320 | - | | |
NM_031844.3(HNRNPU):c.288C>T (p.Ile96=) | 3192 | HNRNPU | Likely benign | 746145300 | RCV002525652; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027322 | 245027322 | | | NC_000001.10:g.245027322G>A | ClinGen:CA1486827 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.284G>T (p.Gly95Val) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003028215; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027326 | 245027326 | | | NC_000001.10:g.245027326C>A | - | | |
NM_031844.3(HNRNPU):c.266_283del (p.Glu89_Glu94del) | 3192 | HNRNPU | Likely benign | -1 | RCV002631856; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027327 | 245027344 | | | NC_000001.10:g.245027343_245027360del | - | | |
NM_031844.3(HNRNPU):c.273GGA[5] (p.Glu93_Glu94dup) | 3192 | HNRNPU | Uncertain significance | 749084511 | RCV002534887; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027328 | 245027329 | | | 1:g.245027328_245027329insTCCTCC | - | | |
NM_031844.3(HNRNPU):c.282A>G (p.Glu94=) | 3192 | HNRNPU | Likely benign | 990170673 | RCV000867126|RCV002538977; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027328 | 245027328 | | | 1:g.245027328T>C | - | | |
NM_031844.3(HNRNPU):c.279G>A (p.Glu93=) | 3192 | HNRNPU | Likely benign | 1573338165 | RCV002542281; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027331 | 245027331 | | | 1:g.245027331C>T | - | | |
NM_031844.3(HNRNPU):c.264AGAGGA[1] (p.Glu93_Glu94del) | 3192 | HNRNPU | Likely benign | 770670938 | RCV001537560|RCV002534459; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027335 | 245027340 | | | NC_000001.10:g.245027340TTCCTC[1] | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.255GGA[5] (p.Glu93_Glu94dup) | 3192 | HNRNPU | Likely benign | 772147656 | RCV003089088; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027346 | 245027347 | | | 245027346 | - | | |
NM_031844.3(HNRNPU):c.264A>G (p.Glu88=) | 3192 | HNRNPU | Likely benign | -1 | RCV002639403; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027346 | 245027346 | | | | - | | |
NM_031844.3(HNRNPU):c.255GGA[1] (p.Glu93_Glu94del) | 3192 | HNRNPU | Likely benign | 772147656 | RCV002553924; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027347 | 245027352 | | | 1:g.245027347_245027352del | - | | |
NM_031844.3(HNRNPU):c.255GGA[2] (p.Glu94del) | 3192 | HNRNPU | Likely benign | 772147656 | RCV002561803; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027347 | 245027349 | | | 1:g.245027347_245027349del | - | | |
NM_031844.3(HNRNPU):c.255_263del (p.Glu92_Glu94del) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002890617; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027347 | 245027355 | | | NC_000001.10:g.245027349_245027357del | - | | |
NM_031844.3(HNRNPU):c.261G>A (p.Glu87=) | 3192 | HNRNPU | Benign | 6675421 | RCV000711971|RCV001702551|RCV002312249; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MeSH:D030342,MedGen:C0950123 | 1 | 245027349 | 245027349 | | | NC_000001.10:g.245027349C>T | - | | |
NM_031844.3(HNRNPU):c.246C>T (p.Gly82=) | 3192 | HNRNPU | Likely benign | -1 | RCV002967191; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027364 | 245027364 | | | | - | | |
NM_031844.3(HNRNPU):c.245del (p.Gly82fs) | 3192 | HNRNPU | Pathogenic | -1 | RCV003230306; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027365 | 245027365 | | | | - | | |
NM_031844.3(HNRNPU):c.235G>A (p.Ala79Thr) | 3192 | HNRNPU | Uncertain significance | 1245925607 | RCV002533495; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027375 | 245027375 | | | NC_000001.10:g.245027375C>T | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.234C>G (p.Ala78=) | 3192 | HNRNPU | Likely benign | 770482398 | RCV002559305; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027376 | 245027376 | | | 245027376 | - | | |
NM_031844.3(HNRNPU):c.229G>C (p.Glu77Gln) | 3192 | HNRNPU | Uncertain significance | 2102990891 | RCV001809256; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027381 | 245027381 | | | 245027381 | - | | |
NM_031844.3(HNRNPU):c.226C>T (p.Gln76Ter) | 3192 | HNRNPU | Pathogenic | -1 | RCV002825119; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027384 | 245027384 | | | NC_000001.10:g.245027384G>A | - | | |
NM_031844.3(HNRNPU):c.223G>C (p.Glu75Gln) | 3192 | HNRNPU | Likely benign | 773969888 | RCV002561746; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027387 | 245027387 | | | 1:g.245027387C>G | - | | |
NM_031844.3(HNRNPU):c.223G>T (p.Glu75Ter) | 3192 | HNRNPU | Pathogenic | 773969888 | RCV002250050; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027387 | 245027387 | | | 245027387 | - | | |
NM_031844.3(HNRNPU):c.222C>G (p.Leu74=) | 3192 | HNRNPU | Likely benign | 201337749 | RCV002427154|RCV002538998; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027388 | 245027388 | | | 1:g.245027388G>C | - | | |
NM_031844.3(HNRNPU):c.211G>C (p.Gly71Arg) | 3192 | HNRNPU | Uncertain significance | 1680934795 | RCV002538477; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027399 | 245027399 | | | 245027399 | - | | |
NM_031844.3(HNRNPU):c.210G>C (p.Ser70=) | 3192 | HNRNPU | Likely benign | 761107762 | RCV003015336; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027400 | 245027400 | | | 245027400 | - | | |
NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) | 3192 | HNRNPU | Pathogenic | 1553284007 | RCV000627592|RCV002533161; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027404 | 245027419 | | | NC_000001.10:g.245027411_245027426del | ClinGen:CA658795666 | CN517202 not provided; | |
NM_031844.3(HNRNPU):c.206G>C (p.Arg69Pro) | 3192 | HNRNPU | Benign/Likely benign | 754427497 | RCV002416113|RCV002537562; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027404 | 245027404 | | | 1:g.245027404C>G | - | | |
NM_031844.3(HNRNPU):c.197C>T (p.Ser66Phe) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002608629; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027413 | 245027413 | | | NC_000001.10:g.245027413G>A | - | | |
NM_031844.3(HNRNPU):c.186G>A (p.Leu62=) | 3192 | HNRNPU | Likely benign | 1680935711 | RCV003025393; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027424 | 245027424 | | | 245027424 | - | | |
NM_031844.3(HNRNPU):c.183C>T (p.Asp61=) | 3192 | HNRNPU | Likely benign | 1234071642 | RCV003053449; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027427 | 245027427 | | | 245027427 | - | | |
NM_031844.3(HNRNPU):c.182A>G (p.Asp61Gly) | 3192 | HNRNPU | Uncertain significance | 1317607352 | RCV002564037; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027428 | 245027428 | | | 1:g.245027428T>C | - | | |
NM_031844.3(HNRNPU):c.178C>T (p.Leu60=) | 3192 | HNRNPU | Likely benign | 747828993 | RCV002549564; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027432 | 245027432 | | | 1:g.245027432G>A | - | | |
NM_031844.3(HNRNPU):c.177C>T (p.Ser59=) | 3192 | HNRNPU | Likely benign | 911651898 | RCV003089047; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027433 | 245027433 | | | 245027433 | - | | |
NM_031844.3(HNRNPU):c.176G>A (p.Ser59Asn) | 3192 | HNRNPU | Uncertain significance | -1 | RCV002796408; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027434 | 245027434 | | | NC_000001.10:g.245027434C>T | - | | |
NM_031844.3(HNRNPU):c.172G>A (p.Gly58Ser) | 3192 | HNRNPU | Uncertain significance | 943805343 | RCV002537457; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027438 | 245027438 | | | 1:g.245027438C>T | - | | |
NM_031844.3(HNRNPU):c.165C>T (p.Pro55=) | 3192 | HNRNPU | Likely benign | 749296514 | RCV003053455; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027445 | 245027445 | | | 245027445 | - | | |
NM_031844.3(HNRNPU):c.159G>A (p.Met53Ile) | 3192 | HNRNPU | Uncertain significance | 976496273 | RCV002551031; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027451 | 245027451 | | | 245027451 | - | | |
NM_031844.3(HNRNPU):c.157A>G (p.Met53Val) | 3192 | HNRNPU | Benign/Likely benign | 770396451 | RCV002391288|RCV003061717; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027453 | 245027453 | | | 245027453 | - | | |
NM_031844.3(HNRNPU):c.143_149del (p.Gly48fs) | 3192 | HNRNPU | Pathogenic | 2102990974 | RCV001374423; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027461 | 245027467 | | | 245027460 | - | | |
NM_031844.3(HNRNPU):c.144G>A (p.Gly48=) | 3192 | HNRNPU | Likely benign | -1 | RCV002618634; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027466 | 245027466 | | | | - | | |
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) | 3192 | HNRNPU | Benign/Likely benign | 111518952 | RCV000711968|RCV002313202|RCV002525655; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027469 | 245027469 | | | NC_000001.10:g.245027469G>A | ClinGen:CA1486863 | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.137A>C (p.Glu46Ala) | 3192 | HNRNPU | Conflicting interpretations of pathogenicity | 2102990989 | RCV001961698|RCV003330104; | N | |MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027473 | 245027473 | | | 245027473 | - | | |
NM_031844.3(HNRNPU):c.133G>C (p.Glu45Gln) | 3192 | HNRNPU | Uncertain significance | 1680938345 | RCV001169993; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027477 | 245027477 | | | 1:g.245027477C>G | - | | |
NM_031844.3(HNRNPU):c.132C>T (p.Asp44=) | 3192 | HNRNPU | Likely benign | 1260101788 | RCV003413742|RCV002544582; | N | MedGen:C3661900|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027478 | 245027478 | | | 1:g.245027478G>A | - | | |
NM_031844.3(HNRNPU):c.129C>T (p.Asp43=) | 3192 | HNRNPU | Likely benign | 2102990998 | RCV002384780|RCV002562661; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027481 | 245027481 | | | 245027481 | - | | |
NM_031844.3(HNRNPU):c.124C>T (p.Leu42=) | 3192 | HNRNPU | Likely benign | 1364614921 | RCV000515635; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027486 | 245027486 | | | NC_000001.10:g.245027486G>A | ClinGen:CA424402735 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.124C>A (p.Leu42Met) | 3192 | HNRNPU | Uncertain significance | 1364614921 | RCV002642033; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027486 | 245027486 | | | 245027486 | - | | |
NM_031844.3(HNRNPU):c.112C>A (p.Leu38Ile) | 3192 | HNRNPU | Pathogenic | 2102991012 | RCV002250051; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027498 | 245027498 | | | 245027498 | - | | |
NM_031844.3(HNRNPU):c.83A>G (p.Lys28Arg) | 3192 | HNRNPU | Likely benign | 200952460 | RCV002438240|RCV002525009|RCV003222012; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391|MedGen:C3661900 | 1 | 245027527 | 245027527 | | | NC_000001.10:g.245027527T>C | ClinGen:CA1486870 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.81C>T (p.Asp27=) | 3192 | HNRNPU | Likely benign | 1259160579 | RCV002554022; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027529 | 245027529 | | | 245027529 | - | | |
NM_031844.3(HNRNPU):c.81C>A (p.Asp27Glu) | 3192 | HNRNPU | Likely benign | -1 | RCV002843938; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027529 | 245027529 | | | NC_000001.10:g.245027529G>T | - | | |
NM_031844.3(HNRNPU):c.79del (p.Asp27fs) | 3192 | HNRNPU | Pathogenic | -1 | RCV002985588; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027531 | 245027531 | | | NC_000001.10:g.245027531del | - | | |
NM_031844.3(HNRNPU):c.70C>A (p.Arg24Ser) | 3192 | HNRNPU | Uncertain significance | 2102991038 | RCV002554287; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027540 | 245027540 | | | 245027540 | - | | |
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) | 3192 | HNRNPU | Likely pathogenic | 869312701 | RCV000209838; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027543 | 245027543 | | | 1:g.245027543G>A | ClinGen:CA354931 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.62A>G (p.Lys21Arg) | 3192 | HNRNPU | Uncertain significance | 755839601 | RCV002544809; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027548 | 245027548 | | | 1:g.245027548T>C | - | C1723387 heterogeneous nuclear ribonucleoprotein G, human; | |
NM_031844.3(HNRNPU):c.61A>G (p.Lys21Glu) | 3192 | HNRNPU | Likely pathogenic | -1 | RCV002466336; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027549 | 245027549 | | | NC_000001.10:g.245027549T>C | - | | |
NM_031844.3(HNRNPU):c.60C>G (p.Leu20=) | 3192 | HNRNPU | Likely benign | -1 | RCV003085892; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027550 | 245027550 | | | | - | | |
NM_031844.3(HNRNPU):c.55G>C (p.Glu19Gln) | 3192 | HNRNPU | Uncertain significance | -1 | RCV003011978; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027555 | 245027555 | | | NC_000001.10:g.245027555C>G | - | | |
NM_031844.3(HNRNPU):c.46C>T (p.Leu16=) | 3192 | HNRNPU | Likely benign | 1573338565 | RCV002544394; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027564 | 245027564 | | | 1:g.245027564G>A | - | | |
NM_031844.3(HNRNPU):c.32_35del (p.Leu11fs) | 3192 | HNRNPU | Likely pathogenic | -1 | RCV003153143; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027575 | 245027578 | | | | - | | |
NM_031844.3(HNRNPU):c.30G>A (p.Lys10=) | 3192 | HNRNPU | Likely benign | 1319381762 | RCV002555103; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027580 | 245027580 | | | 245027580 | - | | |
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) | 3192 | HNRNPU | Pathogenic/Likely pathogenic | 1135401794 | RCV000496156; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027594 | 245027594 | | | NC_000001.10:g.245027594delinsAAT | ClinGen:CA645372526 | C4479319 617391 Epileptic encephalopathy, early infantile, 54; | |
NM_031844.3(HNRNPU):c.9C>G (p.Ser3=) | 3192 | HNRNPU | Likely benign | 886231659 | RCV002551330; | N | MONDO:MONDO:0033363,MedGen:C4479319,OMIM:617391 | 1 | 245027601 | 245027601 | | | 245027601 | - | | |