Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000023.10:g.(?_118708675)_(119761021_?)dup | 65109 | UPF3B | Uncertain significance | -1 | RCV003123017; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118708675 | 119761021 | | | | - | | |
NC_000023.10:g.(?_118968821)_(118986911_?)dup | 65109 | UPF3B | Uncertain significance | -1 | RCV001958231; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118968821 | 118986911 | | | -1 | - | | |
NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln) | 65109 | UPF3B | Uncertain significance | -1 | RCV002639260; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118968941 | 118968941 | | | NC_000023.10:g.118968941C>T | - | | |
NM_080632.3(UPF3B):c.1351del (p.Arg451fs) | 65109 | UPF3B | Pathogenic | 1556377028 | RCV000578335; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118968942 | 118968942 | | | X:g.118968942_118968942del | ClinGen:CA658684327 | C1970822 300676 Mental retardation, syndromic 14, X-linked; | |
NM_080632.3(UPF3B):c.1302+8T>C | 65109 | UPF3B | Benign/Likely benign | 776786838 | RCV002103192|RCV003434410; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MedGen:C3661900 | X | 118971712 | 118971712 | | | 118971712 | - | | |
NM_080632.3(UPF3B):c.1302+6G>A | 65109 | UPF3B | Uncertain significance | 752421745 | RCV002051514; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971714 | 118971714 | | | 118971714 | - | | |
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter) | 65109 | UPF3B | Pathogenic | 122468181 | RCV000012153|RCV000760391; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MedGen:CN517202 | X | 118971734 | 118971734 | | | X:g.118971734G>A | ClinGen:CA121436,OMIM:300298.0003 | C1970822 300676 Mental retardation, syndromic 14, X-linked; | |
NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del) | 65109 | UPF3B | Uncertain significance | -1 | RCV002912719; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971756 | 118971758 | | | NC_000023.10:g.118971756_118971758del | - | | |
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) | 65109 | UPF3B | Benign/Likely benign | 777574933 | RCV000864520|RCV002409030; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118971762 | 118971762 | | | X:g.118971762T>C | - | | |
NM_080632.3(UPF3B):c.1255dup (p.Thr419fs) | 65109 | UPF3B | Uncertain significance | -1 | RCV002876806; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971766 | 118971767 | | | NC_000023.10:g.118971772dup | - | | |
NM_080632.3(UPF3B):c.1202G>A (p.Arg401Gln) | 65109 | UPF3B | Uncertain significance | 775993429 | RCV000705930; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971820 | 118971820 | | | NC_000023.10:g.118971820C>T | - | C1970822 300676 Mental retardation, syndromic 14, X-linked; | |
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp) | 65109 | UPF3B | Benign/Likely benign | 375418085 | RCV002124846|RCV003015356; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118971821 | 118971821 | | | 118971821 | - | | |
NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile) | 65109 | UPF3B | Uncertain significance | -1 | RCV002594727; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971826 | 118971826 | | | NC_000023.10:g.118971826G>A | - | | |
NM_080632.3(UPF3B):c.1189A>G (p.Lys397Glu) | 65109 | UPF3B | Uncertain significance | 898086981 | RCV000519345|RCV002525112; | N | MedGen:CN517202|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971833 | 118971833 | | | X:g.118971833T>C | ClinGen:CA334123362 | CN169374 not specified; | |
NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del) | 65109 | UPF3B | Uncertain significance | -1 | RCV003073734; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971846 | 118971848 | | | NC_000023.10:g.118971848CTT[2] | - | | |
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs) | 65109 | UPF3B | Pathogenic | 2147783395 | RCV002273274; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971855 | 118971856 | | | 118971854 | - | | |
NM_080632.3(UPF3B):c.1158T>C (p.Phe386=) | 65109 | UPF3B | Likely benign | 2056117477 | RCV002180810; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971864 | 118971864 | | | 118971864 | - | | |
NM_080632.3(UPF3B):c.1147G>T (p.Glu383Ter) | 65109 | UPF3B | Likely pathogenic | -1 | RCV002468879; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971875 | 118971875 | | | NC_000023.10:g.118971875C>A | - | | |
NM_080632.3(UPF3B):c.1136G>A (p.Arg379His) | 65109 | UPF3B | Conflicting interpretations of pathogenicity | 140032597 | RCV002120012|RCV002246676; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MedGen:CN169374 | X | 118971886 | 118971886 | | | 118971886 | - | | |
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) | 65109 | UPF3B | Conflicting interpretations of pathogenicity | 143538947 | RCV000192954|RCV000544499|RCV002315517; | N | MedGen:CN169374|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118971901 | 118971901 | | | X:g.118971901C>T | ClinGen:CA206124 | C1970822 300676 Mental retardation, syndromic 14, X-linked; | |
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys) | 65109 | UPF3B | Benign/Likely benign | -1 | RCV003076749|RCV003076748; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118971902 | 118971902 | | | NC_000023.10:g.118971902G>A | - | | |
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His) | 65109 | UPF3B | Conflicting interpretations of pathogenicity | 146785878 | RCV000660377|RCV003163042; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118971904 | 118971904 | | | X:g.118971904C>T | - | C1970822 300676 Mental retardation, syndromic 14, X-linked; | |
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys) | 65109 | UPF3B | Benign/Likely benign | 373472438 | RCV002197920|RCV002441287; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118971905 | 118971905 | | | 118971905 | - | | |
NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln) | 65109 | UPF3B | Uncertain significance | -1 | RCV003081408; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971919 | 118971919 | | | NC_000023.10:g.118971919C>T | - | | |
NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp) | 65109 | UPF3B | Uncertain significance | 374676402 | RCV001344846|RCV002431971; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118971920 | 118971920 | | | 118971920 | - | | |
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) | 65109 | UPF3B | Benign/Likely benign | 199727706 | RCV000990933; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971921 | 118971921 | | | X:g.118971921C>G | - | | |
NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val) | 65109 | UPF3B | Uncertain significance | -1 | RCV002785342; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971947 | 118971947 | | | NC_000023.10:g.118971947T>C | - | | |
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His) | 65109 | UPF3B | Benign/Likely benign | 181034787 | RCV000502584|RCV002316451|RCV002527306; | N | MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971949 | 118971949 | | | NC_000023.10:g.118971949C>T | ClinGen:CA10503195 | CN169374 not specified; | |
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys) | 65109 | UPF3B | Benign | 139646537 | RCV001519127; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971950 | 118971950 | | | X:g.118971950G>A | - | | |
NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly) | 65109 | UPF3B | Uncertain significance | -1 | RCV002690215; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971970 | 118971970 | | | NC_000023.10:g.118971970T>C | - | | |
NM_080632.3(UPF3B):c.1049G>A (p.Arg350Gln) | 65109 | UPF3B | Uncertain significance | 185347914 | RCV001961799; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971973 | 118971973 | | | 118971973 | - | | |
NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp) | 65109 | UPF3B | Uncertain significance | -1 | RCV002595682; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118971974 | 118971974 | | | NC_000023.10:g.118971974G>A | - | | |
NM_080632.3(UPF3B):c.1008-18_1008-17del | 65109 | UPF3B | Likely benign | -1 | RCV002586835; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118972031 | 118972032 | | | NC_000023.10:g.118972032_118972033del | - | | |
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg) | 65109 | UPF3B | Benign | -1 | RCV002615573; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118972348 | 118972348 | | | NC_000023.10:g.118972348T>C | - | | |
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys) | 65109 | UPF3B | Uncertain significance | 376175156 | RCV001770747|RCV002540283; | N | MedGen:C3661900|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118972355 | 118972355 | | | 118972355 | - | | |
NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter) | 65109 | UPF3B | Likely pathogenic | 376175156 | RCV001784011; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118972355 | 118972355 | | | 118972355 | - | | |
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser) | 65109 | UPF3B | Conflicting interpretations of pathogenicity | 775715153 | RCV000194994|RCV000872743; | N | MedGen:CN169374|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118972375 | 118972375 | | | X:g.118972375A>G | ClinGen:CA209537 | CN169374 not specified; | |
NM_080632.3(UPF3B):c.960A>C (p.Thr320=) | 65109 | UPF3B | Likely benign | 2147784327 | RCV002171615; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118972377 | 118972377 | | | 118972377 | - | | |
NM_080632.3(UPF3B):c.912G>A (p.Leu304=) | 65109 | UPF3B | Likely benign | -1 | RCV003056257; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118972425 | 118972425 | | | | - | | |
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs) | 65109 | UPF3B | Pathogenic | 1603370185 | RCV000012152; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118972469 | 118972470 | | | X:g.118972469_118972470del | OMIM:300298.0002 | C1970822 300676 Mental retardation, syndromic 14, X-linked; | |
NM_080632.3(UPF3B):c.847-7T>C | 65109 | UPF3B | Likely benign | -1 | RCV002881898; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118972497 | 118972497 | | | NC_000023.10:g.118972497A>G | - | | |
NM_080632.3(UPF3B):c.846+19A>T | 65109 | UPF3B | Likely benign | -1 | RCV002695736; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118974590 | 118974590 | | | NC_000023.10:g.118974590T>A | - | | |
NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys) | 65109 | UPF3B | Uncertain significance | -1 | RCV003139242; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118974640 | 118974640 | | | NC_000023.10:g.118974640C>T | - | | |
NM_080632.3(UPF3B):c.807+19T>C | 65109 | UPF3B | Benign | 750984351 | RCV002171358; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118975020 | 118975020 | | | 118975020 | - | | |
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys) | 65109 | UPF3B | Benign | 142862074 | RCV001516145|RCV002317402; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118975082 | 118975082 | | | NC_000023.10:g.118975082C>T | ClinGen:CA10503270 | C1970822 300676 Mental retardation, syndromic 14, X-linked; | |
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly) | 65109 | UPF3B | Uncertain significance | 985384811 | RCV001331270; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118975083 | 118975083 | | | 118975083 | - | | |
NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del) | 65109 | UPF3B | Uncertain significance | 2056156815 | RCV001174536; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118975127 | 118975129 | | | X:g.118975127_118975129del | - | | |
NM_080632.3(UPF3B):c.717A>G (p.Glu239=) | 65109 | UPF3B | Likely benign | -1 | RCV002577874; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118975129 | 118975129 | | | | - | | |
NM_080632.3(UPF3B):c.697_698del (p.Arg233fs) | 65109 | UPF3B | Pathogenic | 1064794254 | RCV000483091|RCV000678370; | N | MedGen:CN517202|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118975148 | 118975149 | | | NC_000023.10:g.118975148CT[2] | ClinGen:CA16621188 | | |
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) | 65109 | UPF3B | Pathogenic | 794727881 | RCV000012151|RCV000494240|RCV001787090; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MedGen:C3661900| | X | 118975169 | 118975172 | | | NC_000023.10:g.118975170TTCT[1] | ClinGen:CA203521,OMIM:300298.0001 | | |
NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter) | 65109 | UPF3B | Pathogenic | 2147787331 | RCV001785117; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118975176 | 118975176 | | | 118975176 | - | | |
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) | 65109 | UPF3B | Uncertain significance | 147945173 | RCV001266967|RCV002272438; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118975179 | 118975179 | | | X:g.118975179T>C | - | | |
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs) | 65109 | UPF3B | Likely pathogenic | -1 | RCV001270413; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118975199 | 118975200 | | | X:g.118975199_118975200del | - | | |
NM_080632.3(UPF3B):c.625-4C>T | 65109 | UPF3B | Likely benign | -1 | RCV002706484; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118975225 | 118975225 | | | NC_000023.10:g.118975225G>A | - | | |
NM_080632.3(UPF3B):c.625-11T>C | 65109 | UPF3B | Likely benign | -1 | RCV003013994; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118975232 | 118975232 | | | NC_000023.10:g.118975232A>G | - | | |
NM_080632.3(UPF3B):c.580+10C>A | 65109 | UPF3B | Likely benign | -1 | RCV003047146; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118977144 | 118977144 | | | NC_000023.10:g.118977144G>T | - | | |
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer) | 65109 | UPF3B | Pathogenic | 1603371016 | RCV000995676; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118977156 | 118977159 | | | X:g.118977156_118977159del | - | | |
NM_080632.3(UPF3B):c.520A>G (p.Met174Val) | 65109 | UPF3B | Uncertain significance | -1 | RCV002301668; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118977214 | 118977214 | | | 118977214 | - | | |
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp) | 65109 | UPF3B | Pathogenic | 122468182 | RCV000012154; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118977256 | 118977256 | | | X:g.118977256A>C | ClinGen:CA121438,UniProtKB:Q9BZI7#VAR_037666,OMIM:300298.0004 | C1970822 300676 Mental retardation, syndromic 14, X-linked; | |
NM_080632.3(UPF3B):c.470A>G (p.Asp157Gly) | 65109 | UPF3B | Uncertain significance | 2147790181 | RCV002030386; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118977264 | 118977264 | | | 118977264 | - | | |
NM_080632.3(UPF3B):c.470-19T>C | 65109 | UPF3B | Benign | 779967826 | RCV002116122; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118977283 | 118977283 | | | 118977283 | - | | |
NM_080632.3(UPF3B):c.463G>A (p.Asp155Asn) | 65109 | UPF3B | Uncertain significance | -1 | RCV002582325; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118979167 | 118979167 | | | NC_000023.10:g.118979167C>T | - | | |
NM_080632.3(UPF3B):c.462C>T (p.Ile154=) | 65109 | UPF3B | Likely benign | -1 | RCV003118445; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118979168 | 118979168 | | | | - | | |
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val) | 65109 | UPF3B | Uncertain significance | -1 | RCV002357383|RCV003094429; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118979242 | 118979242 | | | 118979242 | - | | |
NM_080632.3(UPF3B):c.277A>G (p.Met93Val) | 65109 | UPF3B | Uncertain significance | 770557726 | RCV001311100|RCV001871772|RCV002437065; | N | MedGen:C3661900|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118985551 | 118985551 | | | 118985551 | - | | |
NM_080632.3(UPF3B):c.270T>G (p.Tyr90Ter) | 65109 | UPF3B | Likely pathogenic | -1 | RCV002294578; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985558 | 118985558 | | | 118985558 | - | | |
NM_080632.3(UPF3B):c.265T>C (p.Leu89=) | 65109 | UPF3B | Benign | 761622396 | RCV002127326; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985563 | 118985563 | | | 118985563 | - | | |
NM_080632.3(UPF3B):c.264-34G>A | 65109 | UPF3B | Benign | 2428212 | RCV000829628|RCV002245699; | N | MedGen:C3661900|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985598 | 118985598 | | | X:g.118985598C>T | - | | |
NM_080632.3(UPF3B):c.263+7_263+18dup | 65109 | UPF3B | Benign/Likely benign | 55712755 | RCV000193981|RCV001857709; | N | MedGen:CN169374|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | NC_000023.10:g.118985716_118985727dup | ClinGen:CA207836 | CN169374 not specified; | |
NM_080632.3(UPF3B):c.263+3_263+18dup | 65109 | UPF3B | Likely benign | 55712755 | RCV002067042|RCV002318007; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118985711 | 118985712 | | | NC_000023.10:g.118985712_118985727dup | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | 55712755 | RCV002147029; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+17_263+18dup | 65109 | UPF3B | Benign | 55712755 | RCV002093369; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+8_263+18dup | 65109 | UPF3B | Likely benign | 55712755 | RCV002081660; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+6_263+18dup | 65109 | UPF3B | Likely benign | 55712755 | RCV002135508; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+11_263+18dup | 65109 | UPF3B | Likely benign | 55712755 | RCV002115342; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+18dup | 65109 | UPF3B | Benign | 55712755 | RCV002207513; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+9_263+18dup | 65109 | UPF3B | Likely benign | 55712755 | RCV002204605; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | 55712755 | RCV002151562; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | 55712755 | RCV002201068; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | 55712755 | RCV002105697; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | 55712755 | RCV002101123; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+10_263+18dup | 65109 | UPF3B | Likely benign | 55712755 | RCV002209319; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | 55712755 | RCV002185351; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+5_263+18dup | 65109 | UPF3B | Likely benign | 55712755 | RCV002108569|RCV002427681; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+15_263+18dup | 65109 | UPF3B | Benign | 55712755 | RCV002101462; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+13_263+18dup | 65109 | UPF3B | Likely benign | 55712755 | RCV002125773; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+12_263+18dup | 65109 | UPF3B | Likely benign | 55712755 | RCV002125941; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+4_263+18dup | 65109 | UPF3B | Likely benign | 55712755 | RCV002206231; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | 55712755 | RCV002187080; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | -1 | RCV003106807; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | NC_000023.10:g.118985727_118985728insTTTTTTTTTTTTTTTTTTTTTTTT | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAC | 65109 | UPF3B | Likely benign | -1 | RCV002695900; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | NC_000023.10:g.118985712_118985713insGTTTTTTTTTTTT | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | -1 | RCV002880835; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | NC_000023.10:g.118985727_118985728insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | - | | |
NM_080632.3(UPF3B):c.263+14_263+18dup | 65109 | UPF3B | Benign | -1 | RCV002899981; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | NC_000023.10:g.118985723_118985727dup | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | -1 | RCV002913615; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | NC_000023.10:g.118985727_118985728insTTTTTTTTTTTTTTTTTTTTTT | - | | |
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAA | 65109 | UPF3B | Likely benign | -1 | RCV002953428; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985711 | 118985712 | | | NC_000023.10:g.118985727_118985728insTTTTTTTTTTTTTTTTTTTTTTTTT | - | | |
NM_080632.3(UPF3B):c.263+18del | 65109 | UPF3B | Benign | 55712755 | RCV002117832; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985712 | 118985712 | | | 118985711 | - | | |
NM_080632.3(UPF3B):c.263+12A>G | 65109 | UPF3B | Likely benign | 2056306448 | RCV002084057; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985718 | 118985718 | | | 118985718 | - | | |
NM_080632.3(UPF3B):c.263+7A>T | 65109 | UPF3B | Likely benign | 2147802761 | RCV002102949; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985723 | 118985723 | | | 118985723 | - | | |
NM_080632.3(UPF3B):c.261G>T (p.Thr87=) | 65109 | UPF3B | Likely benign | 749039837 | RCV002158843|RCV002434581; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118985732 | 118985732 | | | 118985732 | - | | |
NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys) | 65109 | UPF3B | Uncertain significance | -1 | RCV003054387; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985752 | 118985752 | | | NC_000023.10:g.118985752C>T | - | | |
NM_080632.3(UPF3B):c.195G>A (p.Glu65=) | 65109 | UPF3B | Likely benign | -1 | RCV002666684; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985798 | 118985798 | | | | - | | |
NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs) | 65109 | UPF3B | Pathogenic | -1 | RCV003018402; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985833 | 118985833 | | | NC_000023.10:g.118985833delinsGT | - | | |
NM_080632.3(UPF3B):c.159G>T (p.Val53=) | 65109 | UPF3B | Likely benign | -1 | RCV002996661; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985834 | 118985834 | | | | - | | |
NM_080632.3(UPF3B):c.157-16T>G | 65109 | UPF3B | Benign | 769285530 | RCV002165365; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118985852 | 118985852 | | | 118985852 | - | | |
NM_080632.3(UPF3B):c.105G>A (p.Lys35=) | 65109 | UPF3B | Benign | 143487370 | RCV002129687; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118986787 | 118986787 | | | 118986787 | - | | |
NM_080632.3(UPF3B):c.89C>T (p.Ser30Leu) | 65109 | UPF3B | Uncertain significance | -1 | RCV002791350; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118986803 | 118986803 | | | NC_000023.10:g.118986803G>A | - | | |
NM_080632.3(UPF3B):c.87C>T (p.Thr29=) | 65109 | UPF3B | Likely benign | -1 | RCV003118875; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118986805 | 118986805 | | | | - | | |
NM_080632.3(UPF3B):c.66C>T (p.Ala22=) | 65109 | UPF3B | Likely benign | 890947408 | RCV002111127; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118986826 | 118986826 | | | 118986826 | - | | |
NM_080632.3(UPF3B):c.56C>T (p.Pro19Leu) | 65109 | UPF3B | Uncertain significance | -1 | RCV003007275; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118986836 | 118986836 | | | NC_000023.10:g.118986836G>A | - | | |
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile) | 65109 | UPF3B | Benign/Likely benign | 201833722 | RCV002064520|RCV003169123; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118986839 | 118986839 | | | X:g.118986839G>A | - | | |
NM_080632.3(UPF3B):c.52A>C (p.Thr18Pro) | 65109 | UPF3B | Uncertain significance | 748622995 | RCV000395795|RCV001859659|RCV002348008; | N | MedGen:CN517202|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123 | X | 118986840 | 118986840 | | | X:g.118986840T>G | ClinGen:CA10503390 | CN169374 not specified; | |
NM_080632.3(UPF3B):c.33G>A (p.Glu11=) | 65109 | UPF3B | Likely benign | 772315243 | RCV002539182; | N | MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776 | X | 118986859 | 118986859 | | | X:g.118986859C>T | - | | |