| NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter) |
single nucleotide variant |
Abnormality of the nervous system [RCV001813926]|Intellectual disability, autosomal recessive 13 [RCV000000794]|not provided [RCV002512618] |
Chr8:140397625 [GRCh38]
Chr8:141407724 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002512619]|Intellectual disability, autosomal recessive 13 [RCV000000795]|not provided [RCV000273297] |
Chr8:140360131 [GRCh38]
Chr8:141370230 [GRCh37]
Chr8:8q24.3 |
pathogenic|likely pathogenic |
| NM_001160372.4(TRAPPC9):c.2019_2022del (p.Leu674fs) |
deletion |
Intellectual disability, autosomal recessive 13 [RCV000000796]|not provided [RCV003441699] |
Chr8:140283981..140283984 [GRCh38]
Chr8:141294080..141294083 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2557-2A>C |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV000034319] |
Chr8:140024081 [GRCh38]
Chr8:141034178 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not specified [RCV003986742] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.3078A>G (p.Pro1026=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318118]|TRAPPC9-related condition [RCV003980350]|not provided [RCV000896019] |
Chr8:139732180 [GRCh38]
Chr8:140744423 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3220A>G (p.Asn1074Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002318767]|not provided [RCV001862062]|not specified [RCV001816783] |
Chr8:139732038 [GRCh38]
Chr8:140744281 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] |
Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 |
copy number gain |
See cases [RCV000053678] |
Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3 |
pathogenic |
| GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] |
Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3 |
pathogenic |
| GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 |
copy number gain |
See cases [RCV000050830] |
Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3 |
pathogenic |
| GRCh38/hg38 8q24.3(chr8:140060745-140721324)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052820]|See cases [RCV000052820] |
Chr8:140060745..140721324 [GRCh38]
Chr8:141070843..141731423 [GRCh37]
Chr8:141140025..141800605 [NCBI36]
Chr8:8q24.3 |
uncertain significance |
| GRCh38/hg38 8q24.3(chr8:140287451-140393615)x1 |
copy number loss |
See cases [RCV000052821] |
Chr8:140287451..140393615 [GRCh38]
Chr8:141297550..141403714 [GRCh37]
Chr8:141366732..141472896 [NCBI36]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.108G>A (p.Lys36=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003894664] |
Chr8:140451266 [GRCh38]
Chr8:141461365 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 |
copy number gain |
See cases [RCV000050638] |
Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1045del (p.Ile349fs) |
deletion |
TRAPPC9-related condition [RCV003896290] |
Chr8:140397709 [GRCh38]
Chr8:141407808 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_031466.6(TRAPPC9):c.2866C>T (p.Leu956=) |
single nucleotide variant |
Malignant melanoma [RCV000061763] |
Chr8:140024064 [GRCh38]
Chr8:141034161 [GRCh37]
Chr8:141103343 [NCBI36]
Chr8:8q24.3 |
not provided |
| NM_001160372.4(TRAPPC9):c.2571C>T (p.Val857=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437618] |
Chr8:140024065 [GRCh38]
Chr8:141034162 [GRCh37]
Chr8:141103344 [NCBI36]
Chr8:8q24.3 |
likely benign|not provided |
| NM_031466.6(TRAPPC9):c.2499C>T (p.Ile833=) |
single nucleotide variant |
Malignant melanoma [RCV000068177] |
Chr8:140275731 [GRCh38]
Chr8:141285830 [GRCh37]
Chr8:141355012 [NCBI36]
Chr8:8q24.3 |
not provided |
| NM_031466.6(TRAPPC9):c.1776C>T (p.Phe592=) |
single nucleotide variant |
Malignant melanoma [RCV000068178] |
Chr8:140360063 [GRCh38]
Chr8:141370162 [GRCh37]
Chr8:141439344 [NCBI36]
Chr8:8q24.3 |
not provided |
| NM_031466.6(TRAPPC9):c.3350-69202A>G |
single nucleotide variant |
Lung cancer [RCV000107199] |
Chr8:139801404 [GRCh38]
Chr8:140813647 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.6(TRAPPC9):c.3350-73369G>A |
single nucleotide variant |
Lung cancer [RCV000107200] |
Chr8:139805571 [GRCh38]
Chr8:140817814 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.6(TRAPPC9):c.2850+8819A>G |
single nucleotide variant |
Lung cancer [RCV000107201] |
Chr8:140212640 [GRCh38]
Chr8:141222739 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002313927]|Intellectual Disability, Recessive [RCV000286252]|Intellectual disability [RCV001252374]|Intellectual disability, autosomal recessive 13 [RCV000764743]|not provided [RCV000118658]|not specified [RCV002464116] |
Chr8:140397735 [GRCh38]
Chr8:141407834 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=) |
single nucleotide variant |
Inborn genetic diseases [RCV002408623]|Intellectual Disability, Recessive [RCV000331735]|not provided [RCV000891519]|not specified [RCV000118660] |
Chr8:140360138 [GRCh38]
Chr8:141370237 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=) |
single nucleotide variant |
Inborn genetic diseases [RCV002415605]|Intellectual Disability, Recessive [RCV000262428]|TRAPPC9-related condition [RCV003935127]|not provided [RCV000118661] |
Chr8:140291038 [GRCh38]
Chr8:141301137 [GRCh37]
Chr8:8q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2540A>C (p.Asp847Ala) |
single nucleotide variant |
not provided [RCV000118662] |
Chr8:140221475 [GRCh38]
Chr8:141231574 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3390A>C (p.Pro1130=) |
single nucleotide variant |
Inborn genetic diseases [RCV002453435]|not provided [RCV000896017]|not specified [RCV000118664] |
Chr8:139731118 [GRCh38]
Chr8:140743361 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.980A>G (p.Tyr327Cys) |
single nucleotide variant |
not provided [RCV000118665] |
Chr8:140405605 [GRCh38]
Chr8:141415704 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1194C>T (p.Ile398=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003975054]|not provided [RCV000118666] |
Chr8:140371121 [GRCh38]
Chr8:141381220 [GRCh37]
Chr8:8q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1768+7C>T |
single nucleotide variant |
not provided [RCV000118669] |
Chr8:140300462 [GRCh38]
Chr8:141310561 [GRCh37]
Chr8:8q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312525]|Intellectual Disability, Recessive [RCV000384914]|Intellectual disability, autosomal recessive 13 [RCV001838550]|not provided [RCV001511979]|not specified [RCV000118681] |
Chr8:140451086 [GRCh38]
Chr8:141461185 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002515802]|Intellectual disability, autosomal recessive 13 [RCV000118683]|not provided [RCV000419270] |
Chr8:140451007 [GRCh38]
Chr8:141461106 [GRCh37]
Chr8:8q24.3 |
pathogenic|likely pathogenic |
| NM_031466.8(TRAPPC9):c.-135A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002316324]|Intellectual Disability, Recessive [RCV000278340]|not provided [RCV000960904]|not specified [RCV000118659] |
Chr8:140458405 [GRCh38]
Chr8:141468504 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002313928]|Intellectual Disability, Recessive [RCV000311757]|Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome [RCV001252380]|not provided [RCV000947138]|not specified [RCV000118663] |
Chr8:139732095 [GRCh38]
Chr8:140744338 [GRCh37]
Chr8:8q24.3 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313929]|Intellectual Disability, Recessive [RCV000261001]|not provided [RCV000956678]|not specified [RCV000118667] |
Chr8:140360087 [GRCh38]
Chr8:141370186 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312517]|Intellectual Disability, Recessive [RCV000319877]|Intellectual disability, autosomal recessive 13 [RCV001838548]|not provided [RCV001520472]|not specified [RCV000118668] |
Chr8:140300545 [GRCh38]
Chr8:141310644 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312518]|Intellectual Disability, Recessive [RCV000359487]|TRAPPC9-related condition [RCV003975055]|not provided [RCV000969954]|not specified [RCV000118670] |
Chr8:140287720 [GRCh38]
Chr8:141297819 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312519]|Intellectual Disability, Recessive [RCV000347198]|not provided [RCV001510553]|not specified [RCV000118671] |
Chr8:140252916 [GRCh38]
Chr8:141263015 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001160372.4(TRAPPC9):c.2431+7G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV000289866]|not provided [RCV001510552]|not specified [RCV000118672] |
Chr8:140252770 [GRCh38]
Chr8:141262869 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001160372.4(TRAPPC9):c.2473C>T (p.Arg825Trp) |
single nucleotide variant |
not provided [RCV000118673] |
Chr8:140221542 [GRCh38]
Chr8:141231641 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-11+10G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV000286995]|not provided [RCV000964420]|not specified [RCV000118674] |
Chr8:140458271 [GRCh38]
Chr8:141468370 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002312520]|Intellectual Disability, Recessive [RCV000376511]|not provided [RCV000224718]|not specified [RCV000118675] |
Chr8:139988739 [GRCh38]
Chr8:140998947 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312521]|Intellectual Disability, Recessive [RCV000323246]|not provided [RCV001510551]|not specified [RCV000118676] |
Chr8:139988737 [GRCh38]
Chr8:140998945 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001160372.4(TRAPPC9):c.3225C>T (p.Tyr1075=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316325]|Intellectual Disability, Recessive [RCV000351447]|not provided [RCV000975192]|not specified [RCV000118677] |
Chr8:139732033 [GRCh38]
Chr8:140744276 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312522]|Intellectual Disability, Recessive [RCV000298928]|TRAPPC9-related condition [RCV003975056]|not provided [RCV001310642]|not specified [RCV000118678] |
Chr8:139732009 [GRCh38]
Chr8:140744252 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3279+4C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002312523]|Intellectual disability, autosomal recessive 13 [RCV000400581]|not provided [RCV001640101]|not specified [RCV000118679] |
Chr8:139731975 [GRCh38]
Chr8:140744218 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312524]|Intellectual Disability, Recessive [RCV000322051]|Intellectual disability, autosomal recessive 13 [RCV001838549]|not provided [RCV001511980]|not specified [RCV000118680] |
Chr8:140451167 [GRCh38]
Chr8:141461266 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312526]|Intellectual Disability, Recessive [RCV000325741]|not provided [RCV001515965]|not specified [RCV000118682] |
Chr8:140451017 [GRCh38]
Chr8:141461116 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312527]|Intellectual Disability, Recessive [RCV000369913]|not provided [RCV001515964]|not specified [RCV000118684] |
Chr8:140450975 [GRCh38]
Chr8:141461074 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312528]|Intellectual Disability, Recessive [RCV000334004]|Intellectual disability, autosomal recessive 13 [RCV001838551]|not provided [RCV001511978]|not specified [RCV000118685] |
Chr8:140450963 [GRCh38]
Chr8:141461062 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001160372.4(TRAPPC9):c.414C>T (p.Tyr138=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313930]|Intellectual Disability, Recessive [RCV000274208]|not provided [RCV000974241]|not specified [RCV000118686] |
Chr8:140450960 [GRCh38]
Chr8:141461059 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.456C>T (p.Ile152=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312529]|not provided [RCV001588930]|not specified [RCV000118687] |
Chr8:140450918 [GRCh38]
Chr8:141461017 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312530]|Intellectual Disability, Recessive [RCV000300177]|not provided [RCV001515963]|not specified [RCV000118688] |
Chr8:140450819 [GRCh38]
Chr8:141460918 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.2811-22128T>G |
single nucleotide variant |
not provided [RCV003885943] |
Chr8:139932428 [GRCh38]
Chr8:140944672 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002316450]|Intellectual disability, autosomal recessive 13 [RCV000677117]|TRAPPC9-related condition [RCV003915395]|not provided [RCV000963458]|not specified [RCV000499445] |
Chr8:139732101 [GRCh38]
Chr8:140744344 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2811-21986T>C |
single nucleotide variant |
not provided [RCV003885940] |
Chr8:139932286 [GRCh38]
Chr8:140944530 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2811-21985G>A |
single nucleotide variant |
not provided [RCV003885939] |
Chr8:139932285 [GRCh38]
Chr8:140944529 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 |
copy number gain |
not provided [RCV003885521] |
Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2811-22080T>A |
single nucleotide variant |
not provided [RCV003885942] |
Chr8:139932380 [GRCh38]
Chr8:140944624 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 |
copy number gain |
See cases [RCV000137466] |
Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3 |
likely pathogenic |
| GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 |
copy number gain |
See cases [RCV000133621] |
Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3 |
pathogenic |
| GRCh38/hg38 8q24.3(chr8:139969846-140216465)x1 |
copy number loss |
See cases [RCV000137103] |
Chr8:139969846..140216465 [GRCh38]
Chr8:140980052..141226564 [GRCh37]
Chr8:141049234..141295746 [NCBI36]
Chr8:8q24.3 |
uncertain significance |
| GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 |
copy number gain |
See cases [RCV000137340] |
Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3 |
likely pathogenic |
| GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 |
copy number gain |
See cases [RCV000137346] |
Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3 |
pathogenic |
| GRCh38/hg38 8q24.3(chr8:139864393-141031612)x3 |
copy number gain |
See cases [RCV000134143] |
Chr8:139864393..141031612 [GRCh38]
Chr8:140876636..142041711 [GRCh37]
Chr8:140945818..142110893 [NCBI36]
Chr8:8q24.3 |
uncertain significance |
| GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 |
copy number gain |
See cases [RCV000134353] |
Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 |
copy number gain |
See cases [RCV000139036] |
Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3 |
pathogenic |
| GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 |
copy number gain |
See cases [RCV000140447] |
Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 |
copy number gain |
See cases [RCV000141694] |
Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3 |
pathogenic |
| GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 |
copy number gain |
See cases [RCV000142021] |
Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 |
copy number gain |
See cases [RCV000138551] |
Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 |
copy number gain |
See cases [RCV000137644] |
Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 |
copy number gain |
See cases [RCV000143659] |
Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3 |
pathogenic |
| GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 |
copy number gain |
See cases [RCV000142597] |
Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 |
copy number gain |
See cases [RCV000148117] |
Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3 |
pathogenic |
| GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 |
copy number gain |
See cases [RCV000142810] |
Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2811-22051C>T |
single nucleotide variant |
not provided [RCV003885941] |
Chr8:139932351 [GRCh38]
Chr8:140944595 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2727T>C (p.Asp909=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003899015] |
Chr8:139988809 [GRCh38]
Chr8:140999017 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003984824]|not provided [RCV000171421] |
Chr8:139885900 [GRCh38]
Chr8:140898144 [GRCh37]
Chr8:8q24.3 |
pathogenic|likely pathogenic |
| NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs) |
duplication |
Intellectual disability, autosomal recessive 13 [RCV000499511] |
Chr8:140450842..140450843 [GRCh38]
Chr8:141460941..141460942 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=) |
single nucleotide variant |
Inborn genetic diseases [RCV002390508]|Intellectual Disability, Recessive [RCV000291897]|not provided [RCV000905045]|not specified [RCV000192518] |
Chr8:140370989 [GRCh38]
Chr8:141381088 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3278C>T (p.Ala1093Val) |
single nucleotide variant |
not provided [RCV002517146]|not specified [RCV000192629] |
Chr8:139731980 [GRCh38]
Chr8:140744223 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2597C>T (p.Pro866Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004020347]|Intellectual disability, autosomal recessive 13 [RCV003137774]|not provided [RCV002517145]|not specified [RCV000192680] |
Chr8:140024039 [GRCh38]
Chr8:141034136 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1693G>A (p.Val565Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004020346]|TRAPPC9-related condition [RCV003955174]|not provided [RCV003727631]|not specified [RCV000192934] |
Chr8:140300544 [GRCh38]
Chr8:141310643 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3012C>T (p.Asn1004=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315513]|TRAPPC9-related condition [RCV003937718]|not provided [RCV000879298]|not specified [RCV000193157] |
Chr8:139885922 [GRCh38]
Chr8:140898166 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp) |
single nucleotide variant |
not provided [RCV001572808]|not specified [RCV000193279] |
Chr8:139732110 [GRCh38]
Chr8:140744353 [GRCh37]
Chr8:8q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315511]|Intellectual Disability, Recessive [RCV000397285]|not provided [RCV000913602]|not specified [RCV000193435] |
Chr8:140371151 [GRCh38]
Chr8:141381250 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002408860]|Intellectual disability [RCV001252371]|Intellectual disability, autosomal recessive 13 [RCV001336727]|not provided [RCV001651062]|not specified [RCV000193466] |
Chr8:140311306 [GRCh38]
Chr8:141321405 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.588T>C (p.His196=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315516]|Intellectual Disability, Recessive [RCV000356435]|not provided [RCV000899688]|not specified [RCV000194824] |
Chr8:140439194 [GRCh38]
Chr8:141449293 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1603A>T (p.Thr535Ser) |
single nucleotide variant |
not provided [RCV000656320]|not specified [RCV000194883] |
Chr8:140311267 [GRCh38]
Chr8:141321366 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002317716]|Intellectual Disability, Recessive [RCV000271592]|Intellectual disability [RCV001252376]|Intellectual disability, autosomal recessive 13 [RCV000677118]|TRAPPC9-related condition [RCV003967506]|not provided [RCV000894194]|not specified [RCV000192374] |
Chr8:140451111 [GRCh38]
Chr8:141461210 [GRCh37]
Chr8:8q24.3 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3292G>C (p.Gly1098Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004020348]|not specified [RCV000193670] |
Chr8:139731216 [GRCh38]
Chr8:140743459 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003137775]|not provided [RCV003105823]|not specified [RCV000193776] |
Chr8:140451105 [GRCh38]
Chr8:141461204 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2921G>A (p.Arg974Gln) |
single nucleotide variant |
not provided [RCV001853115]|not specified [RCV000195122] |
Chr8:139910190 [GRCh38]
Chr8:140922434 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.44C>T (p.Thr15Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002453711]|not provided [RCV001857707]|not specified [RCV000195216] |
Chr8:140451330 [GRCh38]
Chr8:141461429 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2037G>A (p.Pro679=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444785]|not provided [RCV000933957]|not specified [RCV000194078] |
Chr8:140283966 [GRCh38]
Chr8:141294065 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002311306]|Intellectual disability, autosomal recessive 13 [RCV000764742]|not provided [RCV000766964]|not specified [RCV000194083] |
Chr8:139910229 [GRCh38]
Chr8:140922473 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3069C>T (p.Asp1023=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315514]|not provided [RCV000893698]|not specified [RCV000194212] |
Chr8:139732189 [GRCh38]
Chr8:140744432 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002311307]|Intellectual Disability, Recessive [RCV000390442]|Intellectual disability, autosomal recessive 13 [RCV000764741]|not provided [RCV000766965]|not specified [RCV000194313] |
Chr8:139732083 [GRCh38]
Chr8:140744326 [GRCh37]
Chr8:8q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.159C>T (p.Leu53=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315515]|not provided [RCV000881432]|not specified [RCV000194342] |
Chr8:140451215 [GRCh38]
Chr8:141461314 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1177G>A (p.Glu393Lys) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000344704]|not provided [RCV001857705]|not specified [RCV000194495] |
Chr8:140371138 [GRCh38]
Chr8:141381237 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001328634]|not provided [RCV000766963]|not specified [RCV000194634] |
Chr8:140287691 [GRCh38]
Chr8:141297790 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1745G>C (p.Gly582Ala) |
single nucleotide variant |
not specified [RCV000193573] |
Chr8:140300492 [GRCh38]
Chr8:141310591 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-203G>C |
single nucleotide variant |
not specified [RCV000192857] |
Chr8:140458473 [GRCh38]
Chr8:141468572 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-73G>C |
single nucleotide variant |
Inborn genetic diseases [RCV002315512]|Intellectual disability, autosomal recessive 13 [RCV002500597]|not provided [RCV000906910]|not specified [RCV000193018] |
Chr8:140458343 [GRCh38]
Chr8:141468442 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_031466.8(TRAPPC9):c.-11+6C>T |
single nucleotide variant |
not provided [RCV001857706]|not specified [RCV000195095] |
Chr8:140458275 [GRCh38]
Chr8:141468374 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.653T>A (p.Met218Lys) |
single nucleotide variant |
not specified [RCV000193415] |
Chr8:140439129 [GRCh38]
Chr8:141449228 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV002503798]|not specified [RCV000202690] |
Chr8:139731144 [GRCh38]
Chr8:140743387 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.-6T>C |
single nucleotide variant |
not provided [RCV000224872] |
Chr8:140451379 [GRCh38]
Chr8:141461478 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.71G>A (p.Gly24Asp) |
single nucleotide variant |
not provided [RCV000224589] |
Chr8:140451303 [GRCh38]
Chr8:141461402 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002460061]|Intellectual disability [RCV001252375]|Intellectual disability, autosomal recessive 13 [RCV000764744]|not provided [RCV000224748]|not specified [RCV000503217] |
Chr8:140435118 [GRCh38]
Chr8:141445217 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2794G>A (p.Ala932Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002321919]|not provided [RCV002518528]|not specified [RCV000238778] |
Chr8:139988742 [GRCh38]
Chr8:140998950 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3288G>A (p.Pro1096=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338952]|Intellectual Disability, Recessive [RCV000337927]|not provided [RCV002524547] |
Chr8:139731220 [GRCh38]
Chr8:140743463 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_031466.8(TRAPPC9):c.-24G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002523644]|Intellectual Disability, Recessive [RCV000341679]|not provided [RCV001850919] |
Chr8:140458294 [GRCh38]
Chr8:141468393 [GRCh37]
Chr8:8q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002317856]|Intellectual Disability, Recessive [RCV000338962]|Intellectual disability [RCV001252372]|not provided [RCV000913653]|not specified [RCV000503076] |
Chr8:139731094 [GRCh38]
Chr8:140743337 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.*104C>T |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000327095]|not provided [RCV001712550] |
Chr8:139730957 [GRCh38]
Chr8:140743200 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002523642]|Intellectual Disability, Recessive [RCV000343506]|Intellectual disability [RCV001252373]|Intellectual disability, autosomal recessive 13 [RCV002294322]|not provided [RCV001861317] |
Chr8:140405645 [GRCh38]
Chr8:141415744 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.*331C>T |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000328134] |
Chr8:139730730 [GRCh38]
Chr8:140742973 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.*576G>A |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000315440] |
Chr8:139730485 [GRCh38]
Chr8:140742728 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2245C>T (p.Leu749=) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000307775]|not provided [RCV002524551] |
Chr8:140275691 [GRCh38]
Chr8:141285790 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2652C>T (p.Val884=) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000317335] |
Chr8:140023984 [GRCh38]
Chr8:141034081 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2988G>A (p.Glu996=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317857]|Intellectual Disability, Recessive [RCV000310370]|not provided [RCV002523638] |
Chr8:139885946 [GRCh38]
Chr8:140898190 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2556+11A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV000348295]|not provided [RCV002523640] |
Chr8:140221448 [GRCh38]
Chr8:141231547 [GRCh37]
Chr8:8q24.3 |
benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1420A>G (p.Met474Val) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000293136]|not provided [RCV002524552]|not specified [RCV000500872] |
Chr8:140360125 [GRCh38]
Chr8:141370224 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=) |
single nucleotide variant |
Inborn genetic diseases [RCV002323562]|Intellectual Disability, Recessive [RCV000265509]|TRAPPC9-related condition [RCV003922623]|not provided [RCV000917666]|not specified [RCV000502241] |
Chr8:139988740 [GRCh38]
Chr8:140998948 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.*375C>T |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000275408] |
Chr8:139730686 [GRCh38]
Chr8:140742929 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2557-14T>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV000296151]|not provided [RCV003766085] |
Chr8:140024093 [GRCh38]
Chr8:141034190 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.*677T>C |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000276379] |
Chr8:139730384 [GRCh38]
Chr8:140742627 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.*65C>G |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000286322] |
Chr8:139730996 [GRCh38]
Chr8:140743239 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000278570]|Intellectual disability, autosomal recessive 13 [RCV001336730]|not provided [RCV002523639] |
Chr8:140023983 [GRCh38]
Chr8:141034080 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.*181G>A |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000269789] |
Chr8:139730880 [GRCh38]
Chr8:140743123 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2811-4G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002317858]|Intellectual disability, autosomal recessive 13 [RCV000270490]|TRAPPC9-related condition [RCV003912551]|not provided [RCV001311334] |
Chr8:139910304 [GRCh38]
Chr8:140922548 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.370A>G (p.Ile124Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002365428]|Intellectual Disability, Recessive [RCV000270574]|not provided [RCV000898470] |
Chr8:140451004 [GRCh38]
Chr8:141461103 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314084]|Intellectual Disability, Recessive [RCV000280516]|TRAPPC9-related condition [RCV003972525]|not provided [RCV000965088] |
Chr8:139731217 [GRCh38]
Chr8:140743460 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1938G>A (p.Thr646=) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000302369] |
Chr8:140287651 [GRCh38]
Chr8:141297750 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002523637]|Intellectual Disability, Recessive [RCV000271805]|Intellectual disability, autosomal recessive 13 [RCV001336733]|not provided [RCV000914028]|not specified [RCV000500118] |
Chr8:139732122 [GRCh38]
Chr8:140744365 [GRCh37]
Chr8:8q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.*285A>C |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000385240] |
Chr8:139730776 [GRCh38]
Chr8:140743019 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.805C>T (p.Arg269Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002523643]|Intellectual Disability, Recessive [RCV000402129]|not provided [RCV000656319]|not specified [RCV001174659] |
Chr8:140435166 [GRCh38]
Chr8:141445265 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2557-13T>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV000388069]|not provided [RCV001518460]|not specified [RCV001529189] |
Chr8:140024092 [GRCh38]
Chr8:141034189 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1421T>G (p.Met474Arg) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000389509] |
Chr8:140360124 [GRCh38]
Chr8:141370223 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2475G>A (p.Arg825=) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000390346]|not provided [RCV000929098] |
Chr8:140221540 [GRCh38]
Chr8:141231639 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2742C>T (p.Thr914=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311433]|Intellectual Disability, Recessive [RCV000375192]|TRAPPC9-related condition [RCV003972526]|not provided [RCV000968134] |
Chr8:139988794 [GRCh38]
Chr8:140999002 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002311434]|Intellectual Disability, Recessive [RCV000376722]|Intellectual disability, autosomal recessive 13 [RCV000764745]|not provided [RCV001861318]|not specified [RCV000503914] |
Chr8:140451234 [GRCh38]
Chr8:141461333 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314083]|Intellectual Disability, Recessive [RCV000377332]|TRAPPC9-related condition [RCV003922622]|not provided [RCV002058704]|not specified [RCV000504491] |
Chr8:139731097 [GRCh38]
Chr8:140743340 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2827G>C (p.Asp943His) |
single nucleotide variant |
Inborn genetic diseases [RCV002524549]|Intellectual Disability, Recessive [RCV000362706]|not provided [RCV002524548] |
Chr8:139910284 [GRCh38]
Chr8:140922528 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2077G>A (p.Ala693Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002523641]|Intellectual Disability, Recessive [RCV000393647]|Intellectual disability [RCV001252378]|not provided [RCV001591032] |
Chr8:140283926 [GRCh38]
Chr8:141294025 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.*532G>A |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000367806]|not provided [RCV002512095] |
Chr8:139730529 [GRCh38]
Chr8:140742772 [GRCh37]
Chr8:8q24.3 |
benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2279-11del |
deletion |
Intellectual Disability, Recessive [RCV000398698]|not provided [RCV002524550] |
Chr8:140252940 [GRCh38]
Chr8:141263039 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002450933]|Intellectual Disability, Recessive [RCV000368670]|Intellectual disability [RCV001252377]|Intellectual disability, autosomal recessive 13 [RCV000709937]|not provided [RCV001815322]|not specified [RCV000501719] |
Chr8:139732109 [GRCh38]
Chr8:140744352 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance|not provided |
| NM_001160372.4(TRAPPC9):c.2622G>T (p.Arg874Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002518023]|not provided [RCV000309073] |
Chr8:140024014 [GRCh38]
Chr8:141034111 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs) |
duplication |
Intellectual disability, autosomal recessive 13 [RCV000299257] |
Chr8:140439098..140439099 [GRCh38]
Chr8:141449197..141449198 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2237T>C (p.Leu746Ser) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000360152] |
Chr8:140275699 [GRCh38]
Chr8:141285798 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-58G>A |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000372954]|not specified [RCV001821101] |
Chr8:140458328 [GRCh38]
Chr8:141468427 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1560C>T (p.Pro520=) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000353516]|not provided [RCV003766086] |
Chr8:140311310 [GRCh38]
Chr8:141321409 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_031466.8(TRAPPC9):c.-304C>G |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000338119] |
Chr8:140458574 [GRCh38]
Chr8:141468673 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.495C>G (p.Asp165Glu) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000368886] |
Chr8:140450879 [GRCh38]
Chr8:141460978 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1370C>A (p.Ala457Asp) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000383902] |
Chr8:140360175 [GRCh38]
Chr8:141370274 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1435C>T (p.Leu479Phe) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000332605] |
Chr8:140360110 [GRCh38]
Chr8:141370209 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.580A>C (p.Ser194Arg) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000390307] |
Chr8:140450794 [GRCh38]
Chr8:141460893 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2793C>T (p.His931=) |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000318247]|not provided [RCV003766084] |
Chr8:139988743 [GRCh38]
Chr8:140998951 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.*80G>C |
single nucleotide variant |
Intellectual Disability, Recessive [RCV000379425] |
Chr8:139730981 [GRCh38]
Chr8:140743224 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001336731]|not provided [RCV000513800] |
Chr8:139910257 [GRCh38]
Chr8:140922501 [GRCh37]
Chr8:8q24.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 8q24.3(chr8:141286569-141519946)x3 |
copy number gain |
See cases [RCV000446654] |
Chr8:141286569..141519946 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NC_000008.11:g.(?_140417391)_(140444832_?)del |
deletion |
Schizophrenia [RCV000754338] |
Chr8:140417391..140444832 [GRCh38]
Chr8:8q24.3 |
likely pathogenic |
| GRCh37/hg19 8q24.3(chr8:141447774-141542712)x3 |
copy number gain |
See cases [RCV000447662] |
Chr8:141447774..141542712 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.3(chr8:140893641-140970359)x1 |
copy number loss |
See cases [RCV000448120] |
Chr8:140893641..140970359 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.3(chr8:141016802-141086121)x1 |
copy number loss |
See cases [RCV000447499] |
Chr8:141016802..141086121 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 |
copy number gain |
See cases [RCV000448954] |
Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 |
copy number gain |
See cases [RCV000448348] |
Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:141446055-141538656)x3 |
copy number gain |
See cases [RCV000448357] |
Chr8:141446055..141538656 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2811-1G>A |
single nucleotide variant |
not provided [RCV000484476] |
Chr8:139910301 [GRCh38]
Chr8:140922545 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.3158G>A (p.Arg1053His) |
single nucleotide variant |
Inborn genetic diseases [RCV003168983]|not provided [RCV000479875] |
Chr8:139732100 [GRCh38]
Chr8:140744343 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2486G>A (p.Arg829Gln) |
single nucleotide variant |
not provided [RCV000485603] |
Chr8:140221529 [GRCh38]
Chr8:141231628 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003168999]|Intellectual disability, autosomal recessive 13 [RCV002470880]|not provided [RCV000489753]|not specified [RCV001169860] |
Chr8:139732202 [GRCh38]
Chr8:140744445 [GRCh37]
Chr8:8q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1294C>A (p.Leu432Ile) |
single nucleotide variant |
not specified [RCV000501060] |
Chr8:140371021 [GRCh38]
Chr8:141381120 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1357C>T (p.His453Tyr) |
single nucleotide variant |
not specified [RCV000501117] |
Chr8:140360188 [GRCh38]
Chr8:141370287 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1980C>T (p.Asn660=) |
single nucleotide variant |
Inborn genetic diseases [RCV002446982]|not provided [RCV000882196]|not specified [RCV000501145] |
Chr8:140287609 [GRCh38]
Chr8:141297708 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002316449]|Intellectual disability, autosomal recessive 13 [RCV002272267]|not provided [RCV002524317]|not specified [RCV000501215] |
Chr8:140023955 [GRCh38]
Chr8:141034052 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.384G>A (p.Pro128=) |
single nucleotide variant |
not provided [RCV002060152]|not specified [RCV000500364] |
Chr8:140450990 [GRCh38]
Chr8:141461089 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1245C>T (p.Cys415=) |
single nucleotide variant |
Inborn genetic diseases [RCV002404316]|not provided [RCV000938916]|not specified [RCV000500721] |
Chr8:140371070 [GRCh38]
Chr8:141381169 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2361G>A (p.Thr787=) |
single nucleotide variant |
not provided [RCV003565429]|not specified [RCV000500659] |
Chr8:140252847 [GRCh38]
Chr8:141262946 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001333295]|TRAPPC9-related condition [RCV003902797]|not provided [RCV000879231]|not specified [RCV000500833] |
Chr8:139731152 [GRCh38]
Chr8:140743395 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.291G>C (p.Glu97Asp) |
single nucleotide variant |
not specified [RCV000504135] |
Chr8:140451083 [GRCh38]
Chr8:141461182 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002314879]|Intellectual disability, autosomal recessive 13 [RCV000660589]|not provided [RCV001857178]|not specified [RCV000501982] |
Chr8:139732047 [GRCh38]
Chr8:140744290 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-244C>T |
single nucleotide variant |
not specified [RCV000502019] |
Chr8:140458514 [GRCh38]
Chr8:141468613 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3241G>A (p.Val1081Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002455974]|TRAPPC9-related condition [RCV003925493]|not provided [RCV000896018]|not specified [RCV000503198] |
Chr8:139732017 [GRCh38]
Chr8:140744260 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.584G>C (p.Arg195Thr) |
single nucleotide variant |
not specified [RCV000501958] |
Chr8:140450790 [GRCh38]
Chr8:141460889 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2341C>A (p.Gln781Lys) |
single nucleotide variant |
not specified [RCV000502100] |
Chr8:140252867 [GRCh38]
Chr8:141262966 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.26G>A (p.Cys9Tyr) |
single nucleotide variant |
not specified [RCV000502159] |
Chr8:140451348 [GRCh38]
Chr8:141461447 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.543G>A (p.Pro181=) |
single nucleotide variant |
Inborn genetic diseases [RCV002438227]|TRAPPC9-related condition [RCV003935315]|not provided [RCV002060151]|not specified [RCV000503384] |
Chr8:140450831 [GRCh38]
Chr8:141460930 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.687G>A (p.Ser229=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003942654]|not provided [RCV003565430]|not specified [RCV000503544] |
Chr8:140439095 [GRCh38]
Chr8:141449194 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2662G>A (p.Val888Ile) |
single nucleotide variant |
not specified [RCV000503691] |
Chr8:140023974 [GRCh38]
Chr8:141034071 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV000625882]|not specified [RCV000502630] |
Chr8:140287641 [GRCh38]
Chr8:141297740 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2981G>C (p.Ser994Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002314880]|not provided [RCV002524315]|not specified [RCV000501564] |
Chr8:139885953 [GRCh38]
Chr8:140898197 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3325C>A (p.Leu1109Ile) |
single nucleotide variant |
not specified [RCV000502922] |
Chr8:139731183 [GRCh38]
Chr8:140743426 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1678T>C (p.Leu560=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003962401]|not provided [RCV002527302]|not specified [RCV000504066] |
Chr8:140300559 [GRCh38]
Chr8:141310658 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2258C>T (p.Ser753Leu) |
single nucleotide variant |
not specified [RCV000504215] |
Chr8:140275678 [GRCh38]
Chr8:141285777 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1385G>A (p.Arg462His) |
single nucleotide variant |
not provided [RCV002524316]|not specified [RCV000504234] |
Chr8:140360160 [GRCh38]
Chr8:141370259 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs) |
duplication |
Intellectual disability, autosomal recessive 13 [RCV000501638] |
Chr8:140451000..140451001 [GRCh38]
Chr8:141461099..141461100 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.3168G>A (p.Gly1056=) |
single nucleotide variant |
Inborn genetic diseases [RCV002455973]|not provided [RCV000898375]|not specified [RCV000499570] |
Chr8:139732090 [GRCh38]
Chr8:140744333 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1078C>T (p.Arg360Trp) |
single nucleotide variant |
not specified [RCV000499773] |
Chr8:140397676 [GRCh38]
Chr8:141407775 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3237C>T (p.Asp1079=) |
single nucleotide variant |
not provided [RCV000906002]|not specified [RCV000499877] |
Chr8:139732021 [GRCh38]
Chr8:140744264 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1263G>A (p.Ala421=) |
single nucleotide variant |
Inborn genetic diseases [RCV002404315]|not provided [RCV000948808]|not specified [RCV000499912] |
Chr8:140371052 [GRCh38]
Chr8:141381151 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.82G>A (p.Glu28Lys) |
single nucleotide variant |
not provided [RCV001865626]|not specified [RCV000500208] |
Chr8:140451292 [GRCh38]
Chr8:141461391 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.274_280del (p.Trp92fs) |
deletion |
TRAPPC9-related condition [RCV003419847]|not provided [RCV000498907] |
Chr8:140451094..140451100 [GRCh38]
Chr8:141461193..141461199 [GRCh37]
Chr8:8q24.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 |
copy number gain |
See cases [RCV000511002] |
Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 |
copy number gain |
See cases [RCV000510854] |
Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 |
copy number gain |
See cases [RCV000511761] |
Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3 |
pathogenic |
| GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 |
copy number gain |
See cases [RCV000512003] |
Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3 |
likely pathogenic |
| GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3 |
pathogenic |
| GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 |
copy number gain |
See cases [RCV000512401] |
Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1982-20A>C |
single nucleotide variant |
not provided [RCV000514086] |
Chr8:140284041 [GRCh38]
Chr8:141294140 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.2036C>T (p.Pro679Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004023609]|not provided [RCV000520152] |
Chr8:140283967 [GRCh38]
Chr8:141294066 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3220_3225delinsGACTAA (p.Asn1074_Tyr1075delinsAspTer) |
indel |
not provided [RCV000598810] |
Chr8:139732033..139732038 [GRCh38]
Chr8:140744276..140744281 [GRCh37]
Chr8:8q24.3 |
pathogenic|likely pathogenic |
| NM_031466.8(TRAPPC9):c.-74C>A |
single nucleotide variant |
Inborn genetic diseases [RCV002424564]|Intellectual disability, autosomal recessive 13 [RCV000660485]|not provided [RCV001868179] |
Chr8:140458344 [GRCh38]
Chr8:141468443 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 |
copy number gain |
not provided [RCV000683044] |
Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:141093504-141180233)x1 |
copy number loss |
not provided [RCV000682921] |
Chr8:141093504..141180233 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8q24.3(chr8:140942613-141160101)x1 |
copy number loss |
not provided [RCV000682947] |
Chr8:140942613..141160101 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2772C>T (p.Ser924=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313501]|not provided [RCV000904977]|not specified [RCV001816763] |
Chr8:139988764 [GRCh38]
Chr8:140998972 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-134G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002315327] |
Chr8:140458404 [GRCh38]
Chr8:141468503 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1870G>A (p.Gly624Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002315405]|not provided [RCV002534571] |
Chr8:140287719 [GRCh38]
Chr8:141297818 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1184A>G (p.Tyr395Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002317973] |
Chr8:140371131 [GRCh38]
Chr8:141381230 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002312790]|Intellectual disability, autosomal recessive 13 [RCV002499307]|not provided [RCV000881433] |
Chr8:140451367 [GRCh38]
Chr8:141461466 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_031466.8(TRAPPC9):c.-129_-109dup |
duplication |
History of neurodevelopmental disorder [RCV000716597]|Intellectual disability, autosomal recessive 13 [RCV001264806]|TRAPPC9-related condition [RCV003980339]|not provided [RCV000959043] |
Chr8:140458378..140458379 [GRCh38]
Chr8:141468477..141468478 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.1296C>T (p.Leu432=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316070] |
Chr8:140371019 [GRCh38]
Chr8:141381118 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002312419]|TRAPPC9-related condition [RCV003980334]|not provided [RCV000897794]|not specified [RCV001816749] |
Chr8:139731087 [GRCh38]
Chr8:140743330 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2032C>G (p.Leu678Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002316107] |
Chr8:140283971 [GRCh38]
Chr8:141294070 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2811-5C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002316896]|not provided [RCV000912032]|not specified [RCV001816786] |
Chr8:139910305 [GRCh38]
Chr8:140922549 [GRCh37]
Chr8:8q24.3 |
benign|likely benign|uncertain significance |
| NM_031466.8(TRAPPC9):c.-108A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002312388]|not provided [RCV000880267] |
Chr8:140458378 [GRCh38]
Chr8:141468477 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.1881C>T (p.Phe627=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313520]|not provided [RCV002067028] |
Chr8:140287708 [GRCh38]
Chr8:141297807 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002314466]|Intellectual disability, autosomal recessive 13 [RCV002485805]|not provided [RCV000731941] |
Chr8:140451238 [GRCh38]
Chr8:141461337 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1982-1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002314582] |
Chr8:140284022 [GRCh38]
Chr8:141294121 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.76G>A (p.Val26Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002313696]|not provided [RCV001862044] |
Chr8:140451298 [GRCh38]
Chr8:141461397 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002312366]|Intellectual disability, autosomal recessive 13 [RCV002493271]|not provided [RCV001862015] |
Chr8:139885921 [GRCh38]
Chr8:140898165 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3225C>A (p.Tyr1075Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002318766]|not provided [RCV001868359]|not specified [RCV001816782] |
Chr8:139732033 [GRCh38]
Chr8:140744276 [GRCh37]
Chr8:8q24.3 |
pathogenic|uncertain significance |
| GRCh37/hg19 8q24.3(chr8:140893978-141050020)x3 |
copy number gain |
not provided [RCV000754755] |
Chr8:140893978..141050020 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.198C>T (p.Asn66=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318683]|not provided [RCV000900305] |
Chr8:140451176 [GRCh38]
Chr8:141461275 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.3147C>T (p.Asn1049=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318750] |
Chr8:139732111 [GRCh38]
Chr8:140744354 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.192G>A (p.Glu64=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316711]|not provided [RCV002067053] |
Chr8:140451182 [GRCh38]
Chr8:141461281 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.6C>T (p.Ser2=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318095]|not provided [RCV000899863] |
Chr8:140451368 [GRCh38]
Chr8:141461467 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1196G>A (p.Gly399Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002318746]|not provided [RCV001324228] |
Chr8:140371119 [GRCh38]
Chr8:141381218 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1233C>T (p.Ala411=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316714]|TRAPPC9-related condition [RCV003983179]|not provided [RCV000923599] |
Chr8:140371082 [GRCh38]
Chr8:141381181 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.584+1G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV000779552] |
Chr8:140450789 [GRCh38]
Chr8:141460888 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2871G>A (p.Lys957=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318837]|TRAPPC9-related condition [RCV003945757]|not provided [RCV000907351] |
Chr8:139910240 [GRCh38]
Chr8:140922484 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_031466.8(TRAPPC9):c.-106G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002316718] |
Chr8:140458376 [GRCh38]
Chr8:141468475 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3088G>A (p.Glu1030Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002318846] |
Chr8:139732170 [GRCh38]
Chr8:140744413 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 |
copy number gain |
not provided [RCV000849762] |
Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2491C>T (p.Arg831Ter) |
single nucleotide variant |
Abnormality of the nervous system [RCV001836911]|Intellectual disability, autosomal recessive 13 [RCV004029278]|not provided [RCV001823171] |
Chr8:140221524 [GRCh38]
Chr8:141231623 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 |
copy number gain |
not provided [RCV000848192] |
Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:141270416-141289943)x1 |
copy number loss |
not provided [RCV000849001] |
Chr8:141270416..141289943 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 |
copy number gain |
not provided [RCV000846814] |
Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1830G>A (p.Pro610=) |
single nucleotide variant |
Inborn genetic diseases [RCV002416135]|not provided [RCV000917339] |
Chr8:140291017 [GRCh38]
Chr8:141301116 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3087C>T (p.Arg1029=) |
single nucleotide variant |
not provided [RCV000895011] |
Chr8:139732171 [GRCh38]
Chr8:140744414 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.3438G>A (p.Ala1146=) |
single nucleotide variant |
Inborn genetic diseases [RCV002354803]|not provided [RCV000936151] |
Chr8:139731070 [GRCh38]
Chr8:140743313 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8q24.3(chr8:141081122-141623752)x3 |
copy number gain |
not provided [RCV000846830] |
Chr8:141081122..141623752 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.3(chr8:141431936-141542147)x3 |
copy number gain |
not provided [RCV000846800] |
Chr8:141431936..141542147 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 |
copy number gain |
not provided [RCV000847171] |
Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3 |
pathogenic |
| NM_031466.8(TRAPPC9):c.-223A>T |
single nucleotide variant |
not provided [RCV000977786] |
Chr8:140458493 [GRCh38]
Chr8:141468592 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1311C>T (p.Pro437=) |
single nucleotide variant |
Inborn genetic diseases [RCV002400120]|not provided [RCV000962359] |
Chr8:140371004 [GRCh38]
Chr8:141381103 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2757C>T (p.Thr919=) |
single nucleotide variant |
not provided [RCV000895563] |
Chr8:139988779 [GRCh38]
Chr8:140998987 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.624C>T (p.His208=) |
single nucleotide variant |
not provided [RCV000919827] |
Chr8:140439158 [GRCh38]
Chr8:141449257 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.564A>G (p.Val188=) |
single nucleotide variant |
not provided [RCV000891880]|not specified [RCV001818671] |
Chr8:140450810 [GRCh38]
Chr8:141460909 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.978G>A (p.Lys326=) |
single nucleotide variant |
not provided [RCV000976082] |
Chr8:140405607 [GRCh38]
Chr8:141415706 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 |
copy number gain |
not provided [RCV000845705] |
Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3 |
pathogenic |
| NM_031466.8(TRAPPC9):c.-256G>A |
single nucleotide variant |
TRAPPC9-related condition [RCV003913167]|not provided [RCV000936951]|not specified [RCV001818910] |
Chr8:140458526 [GRCh38]
Chr8:141468625 [GRCh37]
Chr8:8q24.3 |
likely benign |
| Single allele |
duplication |
not provided [RCV000844900] |
Chr8:141081122..141623752 [GRCh37]
Chr8:8q24.3 |
not provided |
| NM_001160372.4(TRAPPC9):c.2853G>A (p.Pro951=) |
single nucleotide variant |
not provided [RCV000907611] |
Chr8:139910258 [GRCh38]
Chr8:140922502 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1533G>C (p.Thr511=) |
single nucleotide variant |
not provided [RCV000983478] |
Chr8:140311337 [GRCh38]
Chr8:141321436 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1488G>T (p.Ser496=) |
single nucleotide variant |
not provided [RCV000905261] |
Chr8:140360057 [GRCh38]
Chr8:141370156 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-61C>T |
single nucleotide variant |
not provided [RCV000924821] |
Chr8:140458331 [GRCh38]
Chr8:141468430 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1768+10C>T |
single nucleotide variant |
not provided [RCV000901012] |
Chr8:140300459 [GRCh38]
Chr8:141310558 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3125G>A (p.Arg1042His) |
single nucleotide variant |
not provided [RCV000900728] |
Chr8:139732133 [GRCh38]
Chr8:140744376 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.471C>T (p.Ile157=) |
single nucleotide variant |
not provided [RCV000900845] |
Chr8:140450903 [GRCh38]
Chr8:141461002 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2799T>C (p.Gly933=) |
single nucleotide variant |
not provided [RCV000948182]|not specified [RCV002249583] |
Chr8:139988737 [GRCh38]
Chr8:140998945 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.3162C>T (p.Ser1054=) |
single nucleotide variant |
not provided [RCV000955190] |
Chr8:139732096 [GRCh38]
Chr8:140744339 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1098A>G (p.Glu366=) |
single nucleotide variant |
not provided [RCV000909029] |
Chr8:140397656 [GRCh38]
Chr8:141407755 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1317C>T (p.Tyr439=) |
single nucleotide variant |
not provided [RCV000909709] |
Chr8:140370998 [GRCh38]
Chr8:141381097 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2991G>A (p.Ala997=) |
single nucleotide variant |
not provided [RCV000908625] |
Chr8:139885943 [GRCh38]
Chr8:140898187 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2091G>A (p.Leu697=) |
single nucleotide variant |
not provided [RCV000934441] |
Chr8:140283912 [GRCh38]
Chr8:141294011 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3300G>A (p.Ser1100=) |
single nucleotide variant |
not provided [RCV000908802] |
Chr8:139731208 [GRCh38]
Chr8:140743451 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-205G>T |
single nucleotide variant |
not provided [RCV000912460] |
Chr8:140458475 [GRCh38]
Chr8:141468574 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3213C>T (p.Gly1071=) |
single nucleotide variant |
not provided [RCV000898496] |
Chr8:139732045 [GRCh38]
Chr8:140744288 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.943_944del (p.Lys315fs) |
deletion |
not provided [RCV000999080] |
Chr8:140405641..140405642 [GRCh38]
Chr8:141415740..141415741 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.2079G>A (p.Ala693=) |
single nucleotide variant |
not provided [RCV000912808] |
Chr8:140283924 [GRCh38]
Chr8:141294023 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV000985089] |
Chr8:139910221 [GRCh38]
Chr8:140922465 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.1215G>A (p.Ala405=) |
single nucleotide variant |
not provided [RCV000913566] |
Chr8:140371100 [GRCh38]
Chr8:141381199 [GRCh37]
Chr8:8q24.3 |
benign |
| GRCh37/hg19 8q24.3(chr8:140699041-141497553)x3 |
copy number gain |
not provided [RCV001006149] |
Chr8:140699041..141497553 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-125_-124insTACCGTGAGGGTCACGGGGG |
microsatellite |
not provided [RCV001009076] |
Chr8:140458394..140458395 [GRCh38]
Chr8:141468493..141468494 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 |
copy number loss |
not provided [RCV001006144] |
Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3 |
pathogenic |
| GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 |
copy number gain |
not provided [RCV001006146] |
Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3 |
pathogenic |
| GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 |
copy number gain |
not provided [RCV001006140] |
Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1496-3C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001159506] |
Chr8:140311377 [GRCh38]
Chr8:141321476 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3280-8C>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001159305]|not provided [RCV003769765] |
Chr8:139731236 [GRCh38]
Chr8:140743479 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2556+7T>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001159400]|not provided [RCV003727923] |
Chr8:140221452 [GRCh38]
Chr8:141231551 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.3055+11G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001160670]|not provided [RCV002070988] |
Chr8:139885868 [GRCh38]
Chr8:140898112 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1751A>G (p.Glu584Gly) |
single nucleotide variant |
not provided [RCV001092151] |
Chr8:140300486 [GRCh38]
Chr8:141310585 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.142del (p.Asp48fs) |
deletion |
not provided [RCV001092152] |
Chr8:140451232 [GRCh38]
Chr8:141461331 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:140852548-140953922) |
copy number loss |
Intellectual disability, autosomal recessive 13 [RCV001195117] |
Chr8:140852548..140953922 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2809C>T (p.Arg937Ter) |
single nucleotide variant |
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome [RCV001252379] |
Chr8:139988727 [GRCh38]
Chr8:140998935 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.814C>A (p.Gln272Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002430055]|not provided [RCV001255093]|not specified [RCV001819962] |
Chr8:140435157 [GRCh38]
Chr8:141445256 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) |
single nucleotide variant |
Intellectual disability [RCV001260866]|Intellectual disability, autosomal recessive 13 [RCV001328632] |
Chr8:140451223 [GRCh38]
Chr8:141461322 [GRCh37]
Chr8:8q24.3 |
pathogenic|likely pathogenic |
| NM_001160372.4(TRAPPC9):c.19A>G (p.Met7Val) |
single nucleotide variant |
not provided [RCV001256158] |
Chr8:140451355 [GRCh38]
Chr8:141461454 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs) |
duplication |
Intellectual disability, autosomal recessive 13 [RCV001255740] |
Chr8:140300561..140300562 [GRCh38]
Chr8:141310660..141310661 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter) |
single nucleotide variant |
Autism spectrum disorder [RCV003127735]|Intellectual disability, autosomal recessive 13 [RCV001255732] |
Chr8:139910191 [GRCh38]
Chr8:140922435 [GRCh37]
Chr8:8q24.3 |
pathogenic|likely pathogenic |
| NM_031466.8(TRAPPC9):c.-249C>T |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001333296] |
Chr8:140458519 [GRCh38]
Chr8:141468618 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2551del (p.His850_Val851insTer) |
deletion |
Mental retardation, autosomal recessive 13 [RCV001292687] |
Chr8:140221464 [GRCh38]
Chr8:141231563 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.166C>T (p.Arg56Cys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001328633]|not provided [RCV001863190] |
Chr8:140451208 [GRCh38]
Chr8:141461307 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3137G>A (p.Arg1046Gln) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001336734] |
Chr8:139732121 [GRCh38]
Chr8:140744364 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.3(chr8:141016802-141446313)x3 |
copy number gain |
not provided [RCV001259510] |
Chr8:141016802..141446313 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2729del (p.Val910fs) |
deletion |
Inborn genetic diseases [RCV001267079] |
Chr8:139988807 [GRCh38]
Chr8:140999015 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1952C>T (p.Pro651Leu) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001330394] |
Chr8:140287637 [GRCh38]
Chr8:141297736 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.3(chr8:141255310-141355635)x1 |
copy number loss |
not provided [RCV001259508] |
Chr8:141255310..141355635 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1625A>G (p.His542Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001336728] |
Chr8:140300612 [GRCh38]
Chr8:141310711 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2278+2T>C |
single nucleotide variant |
Mental retardation, autosomal recessive 13 [RCV001336729] |
Chr8:140275656 [GRCh38]
Chr8:141285755 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1310C>A (p.Pro437His) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001336726] |
Chr8:140371005 [GRCh38]
Chr8:141381104 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001330395] |
Chr8:139988741 [GRCh38]
Chr8:140998949 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001336732] |
Chr8:139885887 [GRCh38]
Chr8:140898131 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3272T>G (p.Leu1091Arg) |
single nucleotide variant |
not provided [RCV001368351] |
Chr8:139731986 [GRCh38]
Chr8:140744229 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2700-147C>T |
single nucleotide variant |
not provided [RCV001732288] |
Chr8:139988983 [GRCh38]
Chr8:140999191 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.292A>G (p.Lys98Glu) |
single nucleotide variant |
not provided [RCV001370054] |
Chr8:140451082 [GRCh38]
Chr8:141461181 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs) |
deletion |
Intellectual disability, autosomal recessive 13 [RCV001374749] |
Chr8:140221556..140221557 [GRCh38]
Chr8:141231655..141231656 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_031466.8(TRAPPC9):c.-204C>T |
single nucleotide variant |
not provided [RCV001383864] |
Chr8:140458474 [GRCh38]
Chr8:141468573 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.731-31_731-11del |
microsatellite |
Intellectual disability, autosomal recessive 13 [RCV001838664]|not provided [RCV001515757] |
Chr8:140435251..140435271 [GRCh38]
Chr8:141445350..141445370 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2432-89G>C |
single nucleotide variant |
not provided [RCV001546132] |
Chr8:140221672 [GRCh38]
Chr8:141231771 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.-10-272C>G |
single nucleotide variant |
not provided [RCV001568484] |
Chr8:140451655 [GRCh38]
Chr8:141461754 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2278+247C>G |
single nucleotide variant |
not provided [RCV001540122] |
Chr8:140275411 [GRCh38]
Chr8:141285510 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2810+170G>A |
single nucleotide variant |
not provided [RCV001566076] |
Chr8:139988556 [GRCh38]
Chr8:140998764 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3279+213C>T |
single nucleotide variant |
not provided [RCV001539176] |
Chr8:139731766 [GRCh38]
Chr8:140744009 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-11+49G>A |
single nucleotide variant |
not provided [RCV001566829] |
Chr8:140458232 [GRCh38]
Chr8:141468331 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1009-90A>C |
single nucleotide variant |
not provided [RCV001564586] |
Chr8:140397835 [GRCh38]
Chr8:141407934 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1496-42T>C |
single nucleotide variant |
not provided [RCV001567765] |
Chr8:140311416 [GRCh38]
Chr8:141321515 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1854+89T>A |
single nucleotide variant |
not provided [RCV001536422] |
Chr8:140290904 [GRCh38]
Chr8:141301003 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1622+23G>A |
single nucleotide variant |
not provided [RCV001556941] |
Chr8:140311225 [GRCh38]
Chr8:141321324 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.860-150T>A |
single nucleotide variant |
not provided [RCV001556983] |
Chr8:140426791 [GRCh38]
Chr8:141436890 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.860-86G>A |
single nucleotide variant |
not provided [RCV001539245] |
Chr8:140426727 [GRCh38]
Chr8:141436826 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2279-301G>A |
single nucleotide variant |
not provided [RCV001530541] |
Chr8:140253230 [GRCh38]
Chr8:141263329 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1768+181_1768+202dup |
duplication |
not provided [RCV001558519] |
Chr8:140300266..140300267 [GRCh38]
Chr8:141310365..141310366 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2432-1G>A |
single nucleotide variant |
not provided [RCV001543466] |
Chr8:140221584 [GRCh38]
Chr8:141231683 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.1352-327A>G |
single nucleotide variant |
not provided [RCV001550955] |
Chr8:140360520 [GRCh38]
Chr8:141370619 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3280-134G>A |
single nucleotide variant |
not provided [RCV001574188] |
Chr8:139731362 [GRCh38]
Chr8:140743605 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.730+204G>A |
single nucleotide variant |
not provided [RCV001562932] |
Chr8:140438848 [GRCh38]
Chr8:141448947 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1768+257C>G |
single nucleotide variant |
not provided [RCV001609647] |
Chr8:140300212 [GRCh38]
Chr8:141310311 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2700-3C>T |
single nucleotide variant |
not provided [RCV001609849] |
Chr8:139988839 [GRCh38]
Chr8:140999047 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.3279+341G>A |
single nucleotide variant |
not provided [RCV001583249] |
Chr8:139731638 [GRCh38]
Chr8:140743881 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2557-180C>T |
single nucleotide variant |
not provided [RCV001535387] |
Chr8:140024259 [GRCh38]
Chr8:141034356 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.731-138C>T |
single nucleotide variant |
not provided [RCV001560392] |
Chr8:140435378 [GRCh38]
Chr8:141445477 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002440793]|Intellectual disability, autosomal recessive 13 [RCV002495886]|TRAPPC9-related condition [RCV003931183]|not provided [RCV001555888]|not specified [RCV001821882] |
Chr8:140023965 [GRCh38]
Chr8:141034062 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2115-98T>C |
single nucleotide variant |
not provided [RCV001559459] |
Chr8:140275919 [GRCh38]
Chr8:141286018 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.730+125A>G |
single nucleotide variant |
not provided [RCV001559513] |
Chr8:140438927 [GRCh38]
Chr8:141449026 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.73A>G (p.Ile25Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003355521]|not provided [RCV001575417] |
Chr8:140451301 [GRCh38]
Chr8:141461400 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2278+95A>G |
single nucleotide variant |
not provided [RCV001575477] |
Chr8:140275563 [GRCh38]
Chr8:141285662 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2965-207A>G |
single nucleotide variant |
not provided [RCV001556518] |
Chr8:139886176 [GRCh38]
Chr8:140898420 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3055+203C>T |
single nucleotide variant |
not provided [RCV001571941] |
Chr8:139885676 [GRCh38]
Chr8:140897920 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2279-60G>T |
single nucleotide variant |
not provided [RCV001566844] |
Chr8:140252989 [GRCh38]
Chr8:141263088 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1134+218dup |
duplication |
not provided [RCV001534454] |
Chr8:140397394..140397395 [GRCh38]
Chr8:141407493..141407494 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2556+38T>C |
single nucleotide variant |
not provided [RCV001610137] |
Chr8:140221421 [GRCh38]
Chr8:141231520 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.-10-26C>T |
single nucleotide variant |
not provided [RCV001608847] |
Chr8:140451409 [GRCh38]
Chr8:141461508 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1496-335dup |
duplication |
not provided [RCV001581084] |
Chr8:140311707..140311708 [GRCh38]
Chr8:141321806..141321807 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2115-112C>T |
single nucleotide variant |
not provided [RCV001643577] |
Chr8:140275933 [GRCh38]
Chr8:141286032 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1855-93dup |
duplication |
not provided [RCV001690680] |
Chr8:140287826..140287827 [GRCh38]
Chr8:141297925..141297926 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.585-305A>G |
single nucleotide variant |
not provided [RCV001707295] |
Chr8:140439502 [GRCh38]
Chr8:141449601 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2965-33G>A |
single nucleotide variant |
not provided [RCV001571285] |
Chr8:139886002 [GRCh38]
Chr8:140898246 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.584+41A>G |
single nucleotide variant |
not provided [RCV001574140] |
Chr8:140450749 [GRCh38]
Chr8:141460848 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1769-230G>A |
single nucleotide variant |
not provided [RCV001571875] |
Chr8:140291308 [GRCh38]
Chr8:141301407 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.730+298C>T |
single nucleotide variant |
not provided [RCV001576716] |
Chr8:140438754 [GRCh38]
Chr8:141448853 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001507258] |
Chr8:140451135 [GRCh38]
Chr8:141461234 [GRCh37]
Chr8:8q24.3 |
likely pathogenic|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1855-78A>G |
single nucleotide variant |
not provided [RCV001576870] |
Chr8:140287812 [GRCh38]
Chr8:141297911 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2431+237C>T |
single nucleotide variant |
not provided [RCV001550087] |
Chr8:140252540 [GRCh38]
Chr8:141262639 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-11+123_-11+132del |
microsatellite |
not provided [RCV001539459] |
Chr8:140458149..140458158 [GRCh38]
Chr8:141468248..141468257 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1134+233T>C |
single nucleotide variant |
not provided [RCV001581429] |
Chr8:140397387 [GRCh38]
Chr8:141407486 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1855-177A>G |
single nucleotide variant |
not provided [RCV001541487] |
Chr8:140287911 [GRCh38]
Chr8:141298010 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2279-310G>T |
single nucleotide variant |
not provided [RCV001667447] |
Chr8:140253239 [GRCh38]
Chr8:141263338 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.730+235C>T |
single nucleotide variant |
not provided [RCV001643589] |
Chr8:140438817 [GRCh38]
Chr8:141448916 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2700-190C>T |
single nucleotide variant |
not provided [RCV001667288] |
Chr8:139989026 [GRCh38]
Chr8:140999234 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2114+60dup |
duplication |
not provided [RCV001649466] |
Chr8:140283815..140283816 [GRCh38]
Chr8:141293914..141293915 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.730+190A>C |
single nucleotide variant |
not provided [RCV001669083] |
Chr8:140438862 [GRCh38]
Chr8:141448961 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.3055+18A>G |
single nucleotide variant |
not provided [RCV001696430] |
Chr8:139885861 [GRCh38]
Chr8:140898105 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.3279+21C>T |
single nucleotide variant |
not provided [RCV001588211] |
Chr8:139731958 [GRCh38]
Chr8:140744201 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3280-292C>T |
single nucleotide variant |
not provided [RCV001649922] |
Chr8:139731520 [GRCh38]
Chr8:140743763 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.859+142del |
deletion |
not provided [RCV001681874] |
Chr8:140434970 [GRCh38]
Chr8:141445069 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2810+206C>T |
single nucleotide variant |
not provided [RCV001710008] |
Chr8:139988520 [GRCh38]
Chr8:140998728 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2811-155G>A |
single nucleotide variant |
not provided [RCV001674778] |
Chr8:139910455 [GRCh38]
Chr8:140922699 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2557-173C>T |
single nucleotide variant |
not provided [RCV001594002] |
Chr8:140024252 [GRCh38]
Chr8:141034349 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1134+21A>G |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001838760]|not provided [RCV001676317] |
Chr8:140397599 [GRCh38]
Chr8:141407698 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2279-178T>C |
single nucleotide variant |
not provided [RCV001656994] |
Chr8:140253107 [GRCh38]
Chr8:141263206 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2278+265C>T |
single nucleotide variant |
not provided [RCV001657083] |
Chr8:140275393 [GRCh38]
Chr8:141285492 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2811-326C>T |
single nucleotide variant |
not provided [RCV001654789] |
Chr8:139910626 [GRCh38]
Chr8:140922870 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.584+19C>T |
single nucleotide variant |
not provided [RCV001596392] |
Chr8:140450771 [GRCh38]
Chr8:141460870 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.3280-146C>A |
single nucleotide variant |
not provided [RCV001661169] |
Chr8:139731374 [GRCh38]
Chr8:140743617 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2114+303C>T |
single nucleotide variant |
not provided [RCV001595688] |
Chr8:140283586 [GRCh38]
Chr8:141293685 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1768+82T>C |
single nucleotide variant |
not provided [RCV001718449] |
Chr8:140300387 [GRCh38]
Chr8:141310486 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1495+126A>G |
single nucleotide variant |
not provided [RCV001594268] |
Chr8:140359924 [GRCh38]
Chr8:141370023 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1769-122A>T |
single nucleotide variant |
not provided [RCV001648775] |
Chr8:140291200 [GRCh38]
Chr8:141301299 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.730+299A>G |
single nucleotide variant |
not provided [RCV001654013] |
Chr8:140438753 [GRCh38]
Chr8:141448852 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.-10-77C>T |
single nucleotide variant |
not provided [RCV001686667] |
Chr8:140451460 [GRCh38]
Chr8:141461559 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1351+156C>T |
single nucleotide variant |
not provided [RCV001585472] |
Chr8:140370808 [GRCh38]
Chr8:141380907 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2557-146G>A |
single nucleotide variant |
not provided [RCV001637128] |
Chr8:140024225 [GRCh38]
Chr8:141034322 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2279-183_2279-182del |
deletion |
not provided [RCV001614625] |
Chr8:140253111..140253112 [GRCh38]
Chr8:141263210..141263211 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1351+107C>T |
single nucleotide variant |
not provided [RCV001588101] |
Chr8:140370857 [GRCh38]
Chr8:141380956 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1134+226GTTT[3] |
microsatellite |
not provided [RCV001615996] |
Chr8:140397386..140397387 [GRCh38]
Chr8:141407485..141407486 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2278+275C>T |
single nucleotide variant |
not provided [RCV001612305] |
Chr8:140275383 [GRCh38]
Chr8:141285482 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.*165G>C |
single nucleotide variant |
not provided [RCV001593724] |
Chr8:139730896 [GRCh38]
Chr8:140743139 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1981+94A>G |
single nucleotide variant |
not provided [RCV001715918] |
Chr8:140287514 [GRCh38]
Chr8:141297613 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1622+31A>G |
single nucleotide variant |
not provided [RCV001592170] |
Chr8:140311217 [GRCh38]
Chr8:141321316 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1134+47C>T |
single nucleotide variant |
not provided [RCV001693275] |
Chr8:140397573 [GRCh38]
Chr8:141407672 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2557-36GT[7] |
microsatellite |
not provided [RCV001616788] |
Chr8:140024103..140024104 [GRCh38]
Chr8:141034200..141034201 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.3056-150C>A |
single nucleotide variant |
not provided [RCV001588584] |
Chr8:139732352 [GRCh38]
Chr8:140744595 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3056-281T>C |
single nucleotide variant |
not provided [RCV001638252] |
Chr8:139732483 [GRCh38]
Chr8:140744726 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.1768+284T>C |
single nucleotide variant |
not provided [RCV001639643] |
Chr8:140300185 [GRCh38]
Chr8:141310284 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2964+120T>G |
single nucleotide variant |
not provided [RCV001683962] |
Chr8:139910027 [GRCh38]
Chr8:140922271 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.125G>A (p.Ser42Asn) |
single nucleotide variant |
not provided [RCV001761134] |
Chr8:140451249 [GRCh38]
Chr8:141461348 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-124dup |
duplication |
Intellectual disability, autosomal recessive 13 [RCV001785082]|not provided [RCV002541168] |
Chr8:140458393..140458394 [GRCh38]
Chr8:141468492..141468493 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2901G>C (p.Glu967Asp) |
single nucleotide variant |
TRAPPC9-related condition [RCV003948712]|not provided [RCV001752588] |
Chr8:139910210 [GRCh38]
Chr8:140922454 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1634T>G (p.Leu545Arg) |
single nucleotide variant |
not specified [RCV001820613] |
Chr8:140300603 [GRCh38]
Chr8:141310702 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.3(chr8:141320475-141375391)x1 |
copy number loss |
not provided [RCV001834296] |
Chr8:141320475..141375391 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-219G>A |
single nucleotide variant |
not provided [RCV002542514]|not specified [RCV001817143] |
Chr8:140458489 [GRCh38]
Chr8:141468588 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.938G>A (p.Arg313His) |
single nucleotide variant |
not specified [RCV001819515] |
Chr8:140405647 [GRCh38]
Chr8:141415746 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2658G>A (p.Pro886=) |
single nucleotide variant |
not provided [RCV002074260]|not specified [RCV001822219] |
Chr8:140023978 [GRCh38]
Chr8:141034075 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2076C>T (p.Pro692=) |
single nucleotide variant |
not provided [RCV002541960]|not specified [RCV001822251] |
Chr8:140283927 [GRCh38]
Chr8:141294026 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV002482351]|not provided [RCV001869658]|not specified [RCV001822267] |
Chr8:139732041 [GRCh38]
Chr8:140744284 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1173C>T (p.Leu391=) |
single nucleotide variant |
not specified [RCV001817288] |
Chr8:140371142 [GRCh38]
Chr8:141381241 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1524G>C (p.Glu508Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002541967]|not provided [RCV002542505]|not specified [RCV001822299] |
Chr8:140311346 [GRCh38]
Chr8:141321445 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.937C>T (p.Arg313Cys) |
single nucleotide variant |
not provided [RCV002541968]|not specified [RCV001822311] |
Chr8:140405648 [GRCh38]
Chr8:141415747 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.23-24.3(chr8:139692209-141412715)x3 |
copy number gain |
not provided [RCV001795856] |
Chr8:139692209..141412715 [GRCh37]
Chr8:8q24.23-24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1982-9C>T |
single nucleotide variant |
not specified [RCV001817347] |
Chr8:140284030 [GRCh38]
Chr8:141294129 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1731C>T (p.Ile577=) |
single nucleotide variant |
not provided [RCV002542524]|not specified [RCV001817349] |
Chr8:140300506 [GRCh38]
Chr8:141310605 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1533G>A (p.Thr511=) |
single nucleotide variant |
not specified [RCV001817350] |
Chr8:140311337 [GRCh38]
Chr8:141321436 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2971C>T (p.Leu991=) |
single nucleotide variant |
not specified [RCV001820367] |
Chr8:139885963 [GRCh38]
Chr8:140898207 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2343G>T (p.Gln781His) |
single nucleotide variant |
not specified [RCV001819199] |
Chr8:140252865 [GRCh38]
Chr8:141262964 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1234G>A (p.Ala412Thr) |
single nucleotide variant |
not provided [RCV001824520] |
Chr8:140371081 [GRCh38]
Chr8:141381180 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.895A>G (p.Thr299Ala) |
single nucleotide variant |
not provided [RCV001774174] |
Chr8:140405690 [GRCh38]
Chr8:141415789 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.902A>G (p.Asn301Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003264088]|not provided [RCV001771417] |
Chr8:140405683 [GRCh38]
Chr8:141415782 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.-4C>A |
single nucleotide variant |
Inborn genetic diseases [RCV003264089]|not provided [RCV001771418] |
Chr8:140451377 [GRCh38]
Chr8:141461476 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2551G>A (p.Val851Met) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001809254]|not provided [RCV002541482] |
Chr8:140221464 [GRCh38]
Chr8:141231563 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2741C>T (p.Thr914Ile) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV001809255] |
Chr8:139988795 [GRCh38]
Chr8:140999003 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3 |
copy number gain |
not provided [RCV001795855] |
Chr8:128878931..141662233 [GRCh37]
Chr8:8q24.21-24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.208_210delinsTAT (p.Asp70Tyr) |
indel |
not provided [RCV001771327] |
Chr8:140451164..140451166 [GRCh38]
Chr8:141461263..141461265 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1281C>T (p.Ala427=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003976111]|not provided [RCV001727462] |
Chr8:140371034 [GRCh38]
Chr8:141381133 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.998A>G (p.Tyr333Cys) |
single nucleotide variant |
not provided [RCV001763609] |
Chr8:140405587 [GRCh38]
Chr8:141415686 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2982_2986dup (p.Glu996fs) |
duplication |
Abnormality of the nervous system [RCV001814413] |
Chr8:139885947..139885948 [GRCh38]
Chr8:140898191..140898192 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.3019G>A (p.Val1007Ile) |
single nucleotide variant |
not provided [RCV001794841] |
Chr8:139885915 [GRCh38]
Chr8:140898159 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1195G>A (p.Gly399Ser) |
single nucleotide variant |
not provided [RCV001797266] |
Chr8:140371120 [GRCh38]
Chr8:141381219 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.3(chr8:141016802-141086121) |
copy number loss |
not specified [RCV002053799] |
Chr8:141016802..141086121 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1964G>T (p.Gly655Val) |
single nucleotide variant |
not provided [RCV002003218] |
Chr8:140287625 [GRCh38]
Chr8:141297724 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) |
copy number gain |
not specified [RCV002053797] |
Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3 |
pathogenic |
| NM_031466.8(TRAPPC9):c.-59T>C |
single nucleotide variant |
not provided [RCV002045916] |
Chr8:140458329 [GRCh38]
Chr8:141468428 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2632C>G (p.Leu878Val) |
single nucleotide variant |
not provided [RCV001968083] |
Chr8:140024004 [GRCh38]
Chr8:141034101 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.858A>G (p.Pro286=) |
single nucleotide variant |
not provided [RCV001987224] |
Chr8:140435113 [GRCh38]
Chr8:141445212 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-286_-285delinsCC |
indel |
not provided [RCV002051035] |
Chr8:140458555..140458556 [GRCh38]
Chr8:141468654..141468655 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2047_2048delinsTA (p.Thr683Tyr) |
indel |
not provided [RCV002044744] |
Chr8:140283955..140283956 [GRCh38]
Chr8:141294054..141294055 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.383C>T (p.Pro128Leu) |
single nucleotide variant |
not provided [RCV002024523] |
Chr8:140450991 [GRCh38]
Chr8:141461090 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.550A>G (p.Lys184Glu) |
single nucleotide variant |
not provided [RCV001912367] |
Chr8:140450824 [GRCh38]
Chr8:141460923 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3058G>A (p.Val1020Met) |
single nucleotide variant |
not provided [RCV002003975] |
Chr8:139732200 [GRCh38]
Chr8:140744443 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3279+5G>A |
single nucleotide variant |
not provided [RCV001873890] |
Chr8:139731974 [GRCh38]
Chr8:140744217 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-144G>C |
single nucleotide variant |
not provided [RCV002022690] |
Chr8:140458414 [GRCh38]
Chr8:141468513 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.3(chr8:141286569-141519946) |
copy number gain |
not specified [RCV002053801] |
Chr8:141286569..141519946 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1628T>C (p.Val543Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002545734]|not provided [RCV002039822] |
Chr8:140300609 [GRCh38]
Chr8:141310708 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) |
copy number gain |
not specified [RCV002053772] |
Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:141016802-141446902) |
copy number gain |
not specified [RCV002053800] |
Chr8:141016802..141446902 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-234G>C |
single nucleotide variant |
not provided [RCV002015916] |
Chr8:140458504 [GRCh38]
Chr8:141468603 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1929C>G (p.Tyr643Ter) |
single nucleotide variant |
not provided [RCV001874521] |
Chr8:140287660 [GRCh38]
Chr8:141297759 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.3219C>G (p.His1073Gln) |
single nucleotide variant |
not provided [RCV002004852] |
Chr8:139732039 [GRCh38]
Chr8:140744282 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1592C>T (p.Pro531Leu) |
single nucleotide variant |
not provided [RCV002013115] |
Chr8:140311278 [GRCh38]
Chr8:141321377 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3400T>A (p.Phe1134Ile) |
single nucleotide variant |
not provided [RCV001978272] |
Chr8:139731108 [GRCh38]
Chr8:140743351 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.52G>A (p.Val18Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002642111]|not provided [RCV002015695] |
Chr8:140451322 [GRCh38]
Chr8:141461421 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-153G>C |
single nucleotide variant |
not provided [RCV001916789] |
Chr8:140458423 [GRCh38]
Chr8:141468522 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2700-2A>T |
single nucleotide variant |
not provided [RCV001957030] |
Chr8:139988838 [GRCh38]
Chr8:140999046 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.2587T>A (p.Ser863Thr) |
single nucleotide variant |
not provided [RCV001977556] |
Chr8:140024049 [GRCh38]
Chr8:141034146 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2902G>A (p.Glu968Lys) |
single nucleotide variant |
not provided [RCV001876731] |
Chr8:139910209 [GRCh38]
Chr8:140922453 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2705G>A (p.Arg902Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002560577]|not provided [RCV001933909] |
Chr8:139988831 [GRCh38]
Chr8:140999039 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2596C>T (p.Pro866Ser) |
single nucleotide variant |
not provided [RCV002046823] |
Chr8:140024040 [GRCh38]
Chr8:141034137 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.236G>T (p.Gly79Val) |
single nucleotide variant |
not provided [RCV002049944] |
Chr8:140451138 [GRCh38]
Chr8:141461237 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-258_-257del |
deletion |
not provided [RCV001921602] |
Chr8:140458527..140458528 [GRCh38]
Chr8:141468626..141468627 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1981+3A>G |
single nucleotide variant |
not provided [RCV001916971] |
Chr8:140287605 [GRCh38]
Chr8:141297704 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3094G>A (p.Val1032Met) |
single nucleotide variant |
not provided [RCV001877406] |
Chr8:139732164 [GRCh38]
Chr8:140744407 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1738A>C (p.Asn580His) |
single nucleotide variant |
not provided [RCV002047674] |
Chr8:140300499 [GRCh38]
Chr8:141310598 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3386T>C (p.Leu1129Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004043029]|not provided [RCV001934273] |
Chr8:139731122 [GRCh38]
Chr8:140743365 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3437C>T (p.Ala1146Val) |
single nucleotide variant |
not provided [RCV001994378] |
Chr8:139731071 [GRCh38]
Chr8:140743314 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2749G>T (p.Glu917Ter) |
single nucleotide variant |
not provided [RCV001935048] |
Chr8:139988787 [GRCh38]
Chr8:140998995 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.625G>A (p.Val209Met) |
single nucleotide variant |
not provided [RCV001955898] |
Chr8:140439157 [GRCh38]
Chr8:141449256 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.965A>G (p.Asp322Gly) |
single nucleotide variant |
not provided [RCV002046573] |
Chr8:140405620 [GRCh38]
Chr8:141415719 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1988A>G (p.His663Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003170514]|not provided [RCV002010570] |
Chr8:140284015 [GRCh38]
Chr8:141294114 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NC_000008.10:g.(?_141321327)_(141321493_?)del |
deletion |
not provided [RCV001974990] |
Chr8:141321327..141321493 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.3055+10C>T |
single nucleotide variant |
not provided [RCV002224874] |
Chr8:139885869 [GRCh38]
Chr8:140898113 [GRCh37]
Chr8:8q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.390C>T (p.Thr130=) |
single nucleotide variant |
not provided [RCV002205719] |
Chr8:140450984 [GRCh38]
Chr8:141461083 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.289G>T (p.Glu97Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002352648]|not provided [RCV002000034] |
Chr8:140451085 [GRCh38]
Chr8:141461184 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.60C>G (p.Val20=) |
single nucleotide variant |
not provided [RCV002125801] |
Chr8:140451314 [GRCh38]
Chr8:141461413 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3318C>T (p.Leu1106=) |
single nucleotide variant |
not provided [RCV002125574] |
Chr8:139731190 [GRCh38]
Chr8:140743433 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.859+20C>T |
single nucleotide variant |
not provided [RCV002125684] |
Chr8:140435092 [GRCh38]
Chr8:141445191 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3405C>A (p.Cys1135Ter) |
single nucleotide variant |
not provided [RCV001996161] |
Chr8:139731103 [GRCh38]
Chr8:140743346 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2957G>A (p.Trp986Ter) |
single nucleotide variant |
not provided [RCV002000027] |
Chr8:139910154 [GRCh38]
Chr8:140922398 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.178C>T (p.His60Tyr) |
single nucleotide variant |
not provided [RCV001941050] |
Chr8:140451196 [GRCh38]
Chr8:141461295 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NC_000008.10:g.(?_141460869)_(141461502_?)del |
deletion |
not provided [RCV001963227] |
Chr8:141460869..141461502 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.241A>T (p.Ile81Phe) |
single nucleotide variant |
not provided [RCV001996239] |
Chr8:140451133 [GRCh38]
Chr8:141461232 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3056-13G>T |
single nucleotide variant |
not provided [RCV002086569] |
Chr8:139732215 [GRCh38]
Chr8:140744458 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.222C>T (p.His74=) |
single nucleotide variant |
not provided [RCV002088357] |
Chr8:140451152 [GRCh38]
Chr8:141461251 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.609C>G (p.Gly203=) |
single nucleotide variant |
not provided [RCV002104509] |
Chr8:140439173 [GRCh38]
Chr8:141449272 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2760C>T (p.Val920=) |
single nucleotide variant |
not provided [RCV002071275] |
Chr8:139988776 [GRCh38]
Chr8:140998984 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1944C>T (p.Val648=) |
single nucleotide variant |
not provided [RCV002086152] |
Chr8:140287645 [GRCh38]
Chr8:141297744 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2810+17C>A |
single nucleotide variant |
not provided [RCV002124850] |
Chr8:139988709 [GRCh38]
Chr8:140998917 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.923G>C (p.Ser308Thr) |
single nucleotide variant |
not provided [RCV001997637] |
Chr8:140405662 [GRCh38]
Chr8:141415761 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.80C>G (p.Ser27Cys) |
single nucleotide variant |
not provided [RCV001923793] |
Chr8:140451294 [GRCh38]
Chr8:141461393 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1854+4T>C |
single nucleotide variant |
not provided [RCV001904676] |
Chr8:140290989 [GRCh38]
Chr8:141301088 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3027G>A (p.Glu1009=) |
single nucleotide variant |
not provided [RCV002148291] |
Chr8:139885907 [GRCh38]
Chr8:140898151 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2699+17C>T |
single nucleotide variant |
not provided [RCV002129946] |
Chr8:140023920 [GRCh38]
Chr8:141034017 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1863C>T (p.Leu621=) |
single nucleotide variant |
not provided [RCV002114099] |
Chr8:140287726 [GRCh38]
Chr8:141297825 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2775C>T (p.Ser925=) |
single nucleotide variant |
Inborn genetic diseases [RCV002443268]|not provided [RCV002194336] |
Chr8:139988761 [GRCh38]
Chr8:140998969 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1575C>T (p.Gly525=) |
single nucleotide variant |
not provided [RCV002169171] |
Chr8:140311295 [GRCh38]
Chr8:141321394 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1866C>T (p.Thr622=) |
single nucleotide variant |
Inborn genetic diseases [RCV002416442]|not provided [RCV002129610] |
Chr8:140287723 [GRCh38]
Chr8:141297822 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.321C>T (p.Gly107=) |
single nucleotide variant |
not provided [RCV002113816] |
Chr8:140451053 [GRCh38]
Chr8:141461152 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2064G>T (p.Val688=) |
single nucleotide variant |
not provided [RCV002146082] |
Chr8:140283939 [GRCh38]
Chr8:141294038 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2700-12del |
deletion |
not provided [RCV002114220] |
Chr8:139988848 [GRCh38]
Chr8:140999056 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2810+8T>C |
single nucleotide variant |
not provided [RCV002133625] |
Chr8:139988718 [GRCh38]
Chr8:140998926 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2114+9C>T |
single nucleotide variant |
not provided [RCV002117295] |
Chr8:140283880 [GRCh38]
Chr8:141293979 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2556+20G>A |
single nucleotide variant |
not provided [RCV002169288] |
Chr8:140221439 [GRCh38]
Chr8:141231538 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2557-13dup |
duplication |
not provided [RCV002152920] |
Chr8:140024091..140024092 [GRCh38]
Chr8:141034188..141034189 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2550C>T (p.His850=) |
single nucleotide variant |
not provided [RCV002135234] |
Chr8:140221465 [GRCh38]
Chr8:141231564 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.75C>T (p.Ile25=) |
single nucleotide variant |
not provided [RCV002147291] |
Chr8:140451299 [GRCh38]
Chr8:141461398 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2967C>T (p.Pro989=) |
single nucleotide variant |
not provided [RCV002194839] |
Chr8:139885967 [GRCh38]
Chr8:140898211 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3363C>T (p.His1121=) |
single nucleotide variant |
not provided [RCV002132900] |
Chr8:139731145 [GRCh38]
Chr8:140743388 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1352-5C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002391234]|not provided [RCV002096099] |
Chr8:140360198 [GRCh38]
Chr8:141370297 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2704C>T (p.Arg902Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002441247]|not provided [RCV002159417] |
Chr8:139988832 [GRCh38]
Chr8:140999040 [GRCh37]
Chr8:8q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001160372.4(TRAPPC9):c.1768+11G>A |
single nucleotide variant |
not provided [RCV002155726] |
Chr8:140300458 [GRCh38]
Chr8:141310557 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3099G>T (p.Ala1033=) |
single nucleotide variant |
not provided [RCV002143702] |
Chr8:139732159 [GRCh38]
Chr8:140744402 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.798T>C (p.Ser266=) |
single nucleotide variant |
not provided [RCV002180781] |
Chr8:140435173 [GRCh38]
Chr8:141445272 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1982-14del |
deletion |
not provided [RCV002083379] |
Chr8:140284035 [GRCh38]
Chr8:141294134 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.231C>T (p.Val77=) |
single nucleotide variant |
not provided [RCV002140866] |
Chr8:140451143 [GRCh38]
Chr8:141461242 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2557-13del |
deletion |
not provided [RCV002081709] |
Chr8:140024092 [GRCh38]
Chr8:141034189 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2112C>T (p.Pro704=) |
single nucleotide variant |
not provided [RCV002203990] |
Chr8:140283891 [GRCh38]
Chr8:141293990 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2810+18C>T |
single nucleotide variant |
not provided [RCV002139231] |
Chr8:139988708 [GRCh38]
Chr8:140998916 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1911G>A (p.Pro637=) |
single nucleotide variant |
Inborn genetic diseases [RCV002427602]|not provided [RCV002083354] |
Chr8:140287678 [GRCh38]
Chr8:141297777 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2283A>G (p.Lys761=) |
single nucleotide variant |
not provided [RCV002141886] |
Chr8:140252925 [GRCh38]
Chr8:141263024 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2196G>A (p.Gln732=) |
single nucleotide variant |
Inborn genetic diseases [RCV002427579]|not provided [RCV002218260] |
Chr8:140275740 [GRCh38]
Chr8:141285839 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1994dup (p.Val666fs) |
duplication |
Autosomal recessive non-syndromic intellectual disability [RCV002243541] |
Chr8:140284008..140284009 [GRCh38]
Chr8:141294107..141294108 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.3099G>A (p.Ala1033=) |
single nucleotide variant |
not provided [RCV002098848] |
Chr8:139732159 [GRCh38]
Chr8:140744402 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2699+1G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV002227923] |
Chr8:140023936 [GRCh38]
Chr8:141034033 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.3114C>T (p.Gly1038=) |
single nucleotide variant |
Inborn genetic diseases [RCV002460187]|TRAPPC9-related condition [RCV003923701]|not provided [RCV002081523] |
Chr8:139732144 [GRCh38]
Chr8:140744387 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) |
copy number gain |
not provided [RCV002221452] |
Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.3279+1G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV002246785] |
Chr8:139731978 [GRCh38]
Chr8:140744221 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.354C>T (p.Phe118=) |
single nucleotide variant |
not provided [RCV002120419] |
Chr8:140451020 [GRCh38]
Chr8:141461119 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3056-13G>A |
single nucleotide variant |
not provided [RCV002121665] |
Chr8:139732215 [GRCh38]
Chr8:140744458 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1658G>A (p.Arg553Gln) |
single nucleotide variant |
not provided [RCV002260854] |
Chr8:140300579 [GRCh38]
Chr8:141310678 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-212G>C |
single nucleotide variant |
Inborn genetic diseases [RCV002434905]|not provided [RCV003099932] |
Chr8:140458482 [GRCh38]
Chr8:141468581 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1532C>T (p.Thr511Met) |
single nucleotide variant |
not provided [RCV002273509] |
Chr8:140311338 [GRCh38]
Chr8:141321437 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 |
copy number gain |
See cases [RCV002285066] |
Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV002289409] |
Chr8:140291007 [GRCh38]
Chr8:141301106 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 |
copy number gain |
See cases [RCV002292707] |
Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.3240C>T (p.Thr1080=) |
single nucleotide variant |
Inborn genetic diseases [RCV002454620]|not provided [RCV002293197] |
Chr8:139732018 [GRCh38]
Chr8:140744261 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3420C>T (p.His1140=) |
single nucleotide variant |
Inborn genetic diseases [RCV002349031]|not provided [RCV003094323] |
Chr8:139731088 [GRCh38]
Chr8:140743331 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1732G>A (p.Ala578Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002419688] |
Chr8:140300505 [GRCh38]
Chr8:141310604 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3276C>T (p.Asp1092=) |
single nucleotide variant |
Inborn genetic diseases [RCV002455005]|not provided [RCV003438998] |
Chr8:139731982 [GRCh38]
Chr8:140744225 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.610C>T (p.Arg204Cys) |
single nucleotide variant |
not provided [RCV002269653] |
Chr8:140439172 [GRCh38]
Chr8:141449271 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3036_3040dup (p.Ala1014fs) |
duplication |
not provided [RCV002263489] |
Chr8:139885893..139885894 [GRCh38]
Chr8:140898137..140898138 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2728G>A (p.Val910Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002435904] |
Chr8:139988808 [GRCh38]
Chr8:140999016 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-243C>T |
single nucleotide variant |
not provided [RCV002281481] |
Chr8:140458513 [GRCh38]
Chr8:141468612 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.2584T>C (p.Tyr862His) |
single nucleotide variant |
Inborn genetic diseases [RCV002437752] |
Chr8:140024052 [GRCh38]
Chr8:141034149 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-16G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002441510]|not provided [RCV003102229] |
Chr8:140458286 [GRCh38]
Chr8:141468385 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1337A>G (p.Lys446Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002401290]|not provided [RCV003100762] |
Chr8:140370978 [GRCh38]
Chr8:141381077 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1642C>A (p.Leu548Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002410998] |
Chr8:140300595 [GRCh38]
Chr8:141310694 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1632A>G (p.Lys544=) |
single nucleotide variant |
Inborn genetic diseases [RCV002410799]|not provided [RCV003100938] |
Chr8:140300605 [GRCh38]
Chr8:141310704 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2166A>G (p.Val722=) |
single nucleotide variant |
Inborn genetic diseases [RCV002430733]|TRAPPC9-related condition [RCV003943404] |
Chr8:140275770 [GRCh38]
Chr8:141285869 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1533G>T (p.Thr511=) |
single nucleotide variant |
Inborn genetic diseases [RCV002410460]|not provided [RCV003100867] |
Chr8:140311337 [GRCh38]
Chr8:141321436 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1437C>G (p.Leu479=) |
single nucleotide variant |
Inborn genetic diseases [RCV002407426]|not provided [RCV003097190] |
Chr8:140360108 [GRCh38]
Chr8:141370207 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1485G>T (p.Leu495Phe) |
single nucleotide variant |
not provided [RCV002296493] |
Chr8:140360060 [GRCh38]
Chr8:141370159 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1618G>A (p.Val540Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002410560]|not provided [RCV003097345] |
Chr8:140311252 [GRCh38]
Chr8:141321351 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1262C>T (p.Ala421Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002403457]|not provided [RCV003100721] |
Chr8:140371053 [GRCh38]
Chr8:141381152 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.598C>T (p.Arg200Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002449868] |
Chr8:140439184 [GRCh38]
Chr8:141449283 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1355C>T (p.Thr452Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002403626] |
Chr8:140360190 [GRCh38]
Chr8:141370289 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.457G>A (p.Glu153Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002393826]|not provided [RCV003099665] |
Chr8:140450917 [GRCh38]
Chr8:141461016 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2800G>A (p.Glu934Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002325836] |
Chr8:139988736 [GRCh38]
Chr8:140998944 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1170C>G (p.Ile390Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002396786] |
Chr8:140371145 [GRCh38]
Chr8:141381244 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.938G>T (p.Arg313Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002362229] |
Chr8:140405647 [GRCh38]
Chr8:141415746 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3249C>G (p.Phe1083Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002459505]|not provided [RCV003099557] |
Chr8:139732009 [GRCh38]
Chr8:140744252 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-69C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002443864]|not provided [RCV003098766] |
Chr8:140458339 [GRCh38]
Chr8:141468438 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2673C>T (p.Thr891=) |
single nucleotide variant |
Inborn genetic diseases [RCV002442046] |
Chr8:140023963 [GRCh38]
Chr8:141034060 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2852C>T (p.Pro951Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002320761] |
Chr8:139910259 [GRCh38]
Chr8:140922503 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1994C>T (p.Thr665Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002446191]|not provided [RCV003101200] |
Chr8:140284009 [GRCh38]
Chr8:141294108 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1041G>A (p.Ala347=) |
single nucleotide variant |
Inborn genetic diseases [RCV002387579] |
Chr8:140397713 [GRCh38]
Chr8:141407812 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2144G>A (p.Gly715Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002459963] |
Chr8:140275792 [GRCh38]
Chr8:141285891 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-68C>T |
single nucleotide variant |
Autism spectrum disorder [RCV003126252]|Inborn genetic diseases [RCV002446057] |
Chr8:140458338 [GRCh38]
Chr8:141468437 [GRCh37]
Chr8:8q24.3 |
likely pathogenic|uncertain significance |
| NM_031466.8(TRAPPC9):c.-162C>A |
single nucleotide variant |
Inborn genetic diseases [RCV002387664] |
Chr8:140458432 [GRCh38]
Chr8:141468531 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2353G>T (p.Val785Leu) |
single nucleotide variant |
not provided [RCV002298252] |
Chr8:140252855 [GRCh38]
Chr8:141262954 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1352-4G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002394977]|not provided [RCV003774433] |
Chr8:140360197 [GRCh38]
Chr8:141370296 [GRCh37]
Chr8:8q24.3 |
likely benign|uncertain significance |
| NM_001160372.4(TRAPPC9):c.2525G>A (p.Ser842Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002441781] |
Chr8:140221490 [GRCh38]
Chr8:141231589 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1234G>T (p.Ala412Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002400819]|Intellectual disability, autosomal recessive 13 [RCV003138246]|not provided [RCV003095295] |
Chr8:140371081 [GRCh38]
Chr8:141381180 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1355C>A (p.Thr452Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002403624]|not provided [RCV003097056] |
Chr8:140360190 [GRCh38]
Chr8:141370289 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs) |
deletion |
Intellectual disability, autosomal recessive 13 [RCV002308532] |
Chr8:140287661 [GRCh38]
Chr8:141297760 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.1958C>T (p.Thr653Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002443565]|not provided [RCV003101169] |
Chr8:140287631 [GRCh38]
Chr8:141297730 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2307G>T (p.Trp769Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002426264] |
Chr8:140252901 [GRCh38]
Chr8:141263000 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2520C>A (p.Pro840=) |
single nucleotide variant |
Inborn genetic diseases [RCV002441732]|not provided [RCV003102746] |
Chr8:140221495 [GRCh38]
Chr8:141231594 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1009-15C>T |
single nucleotide variant |
not provided [RCV002726801] |
Chr8:140397760 [GRCh38]
Chr8:141407859 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8q24.3(chr8:141352715-141656635)x3 |
copy number gain |
not provided [RCV002475849] |
Chr8:141352715..141656635 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1227C>T (p.Arg409=) |
single nucleotide variant |
not provided [RCV002726519] |
Chr8:140371088 [GRCh38]
Chr8:141381187 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV002471721]|not provided [RCV002571462] |
Chr8:139910219 [GRCh38]
Chr8:140922463 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1069A>G (p.Ile357Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002860970] |
Chr8:140397685 [GRCh38]
Chr8:141407784 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2699+18G>A |
single nucleotide variant |
not provided [RCV002771464] |
Chr8:140023919 [GRCh38]
Chr8:141034016 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2954dup (p.Cys985fs) |
duplication |
not provided [RCV002838513] |
Chr8:139910156..139910157 [GRCh38]
Chr8:140922400..140922401 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.420C>G (p.Asp140Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002969221] |
Chr8:140450954 [GRCh38]
Chr8:141461053 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3257C>G (p.Ser1086Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004064291]|not provided [RCV002511173] |
Chr8:139732001 [GRCh38]
Chr8:140744244 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.265G>A (p.Ala89Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002344861] |
Chr8:140451109 [GRCh38]
Chr8:141461208 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2920C>G (p.Arg974Gly) |
single nucleotide variant |
not provided [RCV002511372] |
Chr8:139910191 [GRCh38]
Chr8:140922435 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.342G>A (p.Arg114=) |
single nucleotide variant |
not provided [RCV002994168] |
Chr8:140451032 [GRCh38]
Chr8:141461131 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1599C>T (p.Pro533=) |
single nucleotide variant |
not provided [RCV002839113] |
Chr8:140311271 [GRCh38]
Chr8:141321370 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.542C>T (p.Pro181Leu) |
single nucleotide variant |
not provided [RCV002771545] |
Chr8:140450832 [GRCh38]
Chr8:141460931 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1587G>T (p.Leu529=) |
single nucleotide variant |
not provided [RCV002968019] |
Chr8:140311283 [GRCh38]
Chr8:141321382 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.912C>T (p.Asn304=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345165] |
Chr8:140405673 [GRCh38]
Chr8:141415772 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-26G>A |
single nucleotide variant |
not provided [RCV002615607] |
Chr8:140458296 [GRCh38]
Chr8:141468395 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3279+17A>G |
single nucleotide variant |
not provided [RCV002771195] |
Chr8:139731962 [GRCh38]
Chr8:140744205 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.761T>G (p.Val254Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002414747] |
Chr8:140435210 [GRCh38]
Chr8:141445309 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1434C>T (p.Ala478=) |
single nucleotide variant |
Inborn genetic diseases [RCV002414844] |
Chr8:140360111 [GRCh38]
Chr8:141370210 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.175del (p.His59fs) |
deletion |
Intellectual disability, autosomal recessive 13 [RCV002471718] |
Chr8:140451199 [GRCh38]
Chr8:141461298 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1654C>T (p.Leu552Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002689439] |
Chr8:140300583 [GRCh38]
Chr8:141310682 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3199G>A (p.Asp1067Asn) |
single nucleotide variant |
not provided [RCV002690095] |
Chr8:139732059 [GRCh38]
Chr8:140744302 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2521G>A (p.Glu841Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002618175]|not provided [RCV002618174] |
Chr8:140221494 [GRCh38]
Chr8:141231593 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1713C>T (p.Phe571=) |
single nucleotide variant |
not provided [RCV002843563] |
Chr8:140300524 [GRCh38]
Chr8:141310623 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1622+3G>A |
single nucleotide variant |
not provided [RCV003035337] |
Chr8:140311245 [GRCh38]
Chr8:141321344 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.620_623dup (p.His208fs) |
duplication |
not provided [RCV002819321] |
Chr8:140439158..140439159 [GRCh38]
Chr8:141449257..141449258 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.877A>G (p.Ile293Val) |
single nucleotide variant |
not provided [RCV002690244] |
Chr8:140426624 [GRCh38]
Chr8:141436723 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1937C>T (p.Thr646Met) |
single nucleotide variant |
not provided [RCV002686326] |
Chr8:140287652 [GRCh38]
Chr8:141297751 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.322T>A (p.Ser108Thr) |
single nucleotide variant |
not provided [RCV002863231] |
Chr8:140451052 [GRCh38]
Chr8:141461151 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1009-8C>T |
single nucleotide variant |
not provided [RCV002972282] |
Chr8:140397753 [GRCh38]
Chr8:141407852 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2556G>A (p.Lys852=) |
single nucleotide variant |
not provided [RCV002730451] |
Chr8:140221459 [GRCh38]
Chr8:141231558 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1981G>A (p.Gly661Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002754809] |
Chr8:140287608 [GRCh38]
Chr8:141297707 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1109A>G (p.Asn370Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002794008] |
Chr8:140397645 [GRCh38]
Chr8:141407744 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2107C>T (p.Leu703=) |
single nucleotide variant |
not provided [RCV002975169] |
Chr8:140283896 [GRCh38]
Chr8:141293995 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2108T>C (p.Leu703Pro) |
single nucleotide variant |
not provided [RCV002820033] |
Chr8:140283895 [GRCh38]
Chr8:141293994 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1593G>A (p.Pro531=) |
single nucleotide variant |
not provided [RCV002616820] |
Chr8:140311277 [GRCh38]
Chr8:141321376 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3056-10T>A |
single nucleotide variant |
not provided [RCV003035219] |
Chr8:139732212 [GRCh38]
Chr8:140744455 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2448T>C (p.Ser816=) |
single nucleotide variant |
not provided [RCV002863148] |
Chr8:140221567 [GRCh38]
Chr8:141231666 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2421T>C (p.Asp807=) |
single nucleotide variant |
not provided [RCV002972241] |
Chr8:140252787 [GRCh38]
Chr8:141262886 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1895C>T (p.Ala632Val) |
single nucleotide variant |
not provided [RCV003075603] |
Chr8:140287694 [GRCh38]
Chr8:141297793 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2709G>A (p.Gln903=) |
single nucleotide variant |
not provided [RCV002996065] |
Chr8:139988827 [GRCh38]
Chr8:140999035 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2203A>C (p.Ile735Leu) |
single nucleotide variant |
not provided [RCV002999651] |
Chr8:140275733 [GRCh38]
Chr8:141285832 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.-10-5A>G |
single nucleotide variant |
not provided [RCV002847118] |
Chr8:140451388 [GRCh38]
Chr8:141461487 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2582A>G (p.Lys861Arg) |
single nucleotide variant |
not provided [RCV002621202] |
Chr8:140024054 [GRCh38]
Chr8:141034151 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.661G>A (p.Asp221Asn) |
single nucleotide variant |
not provided [RCV002796655] |
Chr8:140439121 [GRCh38]
Chr8:141449220 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.731-19_731-13del |
microsatellite |
not provided [RCV002691140] |
Chr8:140435253..140435259 [GRCh38]
Chr8:141445352..141445358 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2605A>G (p.Thr869Ala) |
single nucleotide variant |
not provided [RCV002590568] |
Chr8:140024031 [GRCh38]
Chr8:141034128 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3292G>A (p.Gly1098Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003308281]|not provided [RCV002781137] |
Chr8:139731216 [GRCh38]
Chr8:140743459 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2539G>A (p.Asp847Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002693764] |
Chr8:140221476 [GRCh38]
Chr8:141231575 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2810+1G>A |
single nucleotide variant |
not provided [RCV003018292] |
Chr8:139988725 [GRCh38]
Chr8:140998933 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.1856_1857insACCAA (p.Leu620fs) |
insertion |
not provided [RCV002846608] |
Chr8:140287732..140287733 [GRCh38]
Chr8:141297831..141297832 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.3055+8C>T |
single nucleotide variant |
not provided [RCV002867388] |
Chr8:139885871 [GRCh38]
Chr8:140898115 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2183A>G (p.Asn728Ser) |
single nucleotide variant |
not provided [RCV002620513] |
Chr8:140275753 [GRCh38]
Chr8:141285852 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.616C>T (p.Arg206Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002692401] |
Chr8:140439166 [GRCh38]
Chr8:141449265 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3007C>T (p.Leu1003=) |
single nucleotide variant |
not provided [RCV002620959] |
Chr8:139885927 [GRCh38]
Chr8:140898171 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.731-5C>A |
single nucleotide variant |
not provided [RCV002909549] |
Chr8:140435245 [GRCh38]
Chr8:141445344 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1013A>T (p.Lys338Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002868793] |
Chr8:140397741 [GRCh38]
Chr8:141407840 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1537A>T (p.Lys513Ter) |
single nucleotide variant |
not provided [RCV003018293] |
Chr8:140311333 [GRCh38]
Chr8:141321432 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1622+9G>C |
single nucleotide variant |
not provided [RCV003018345] |
Chr8:140311239 [GRCh38]
Chr8:141321338 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3135G>A (p.Val1045=) |
single nucleotide variant |
not provided [RCV003039542] |
Chr8:139732123 [GRCh38]
Chr8:140744366 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2293G>A (p.Asp765Asn) |
single nucleotide variant |
not provided [RCV002914427] |
Chr8:140252915 [GRCh38]
Chr8:141263014 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2117C>G (p.Ser706Cys) |
single nucleotide variant |
not provided [RCV003021936] |
Chr8:140275819 [GRCh38]
Chr8:141285918 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3273C>T (p.Leu1091=) |
single nucleotide variant |
not provided [RCV002592937] |
Chr8:139731985 [GRCh38]
Chr8:140744228 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1965A>G (p.Gly655=) |
single nucleotide variant |
not provided [RCV002622956] |
Chr8:140287624 [GRCh38]
Chr8:141297723 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1942G>A (p.Val648Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002786224]|not provided [RCV002786223] |
Chr8:140287647 [GRCh38]
Chr8:141297746 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-231C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002707818] |
Chr8:140458501 [GRCh38]
Chr8:141468600 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.183C>G (p.Tyr61Ter) |
single nucleotide variant |
not provided [RCV002914002] |
Chr8:140451191 [GRCh38]
Chr8:141461290 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1855-15C>T |
single nucleotide variant |
not provided [RCV002570276] |
Chr8:140287749 [GRCh38]
Chr8:141297848 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3150G>T (p.Arg1050=) |
single nucleotide variant |
not provided [RCV002572662] |
Chr8:139732108 [GRCh38]
Chr8:140744351 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3163G>C (p.Val1055Leu) |
single nucleotide variant |
not provided [RCV002740120] |
Chr8:139732095 [GRCh38]
Chr8:140744338 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.602G>A (p.Cys201Tyr) |
single nucleotide variant |
not provided [RCV002706310] |
Chr8:140439180 [GRCh38]
Chr8:141449279 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1005C>G (p.Ser335Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002739191] |
Chr8:140405580 [GRCh38]
Chr8:141415679 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.150G>C (p.Gln50His) |
single nucleotide variant |
not provided [RCV003039250] |
Chr8:140451224 [GRCh38]
Chr8:141461323 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-128G>T |
single nucleotide variant |
not provided [RCV002785800] |
Chr8:140458398 [GRCh38]
Chr8:141468497 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.731-38_731-19del |
deletion |
not provided [RCV002912707] |
Chr8:140435259..140435278 [GRCh38]
Chr8:141445358..141445377 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2743G>A (p.Glu915Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002662297] |
Chr8:139988793 [GRCh38]
Chr8:140999001 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3121G>A (p.Val1041Met) |
single nucleotide variant |
not provided [RCV002571984] |
Chr8:139732137 [GRCh38]
Chr8:140744380 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.372C>G (p.Ile124Met) |
single nucleotide variant |
not provided [RCV002575193] |
Chr8:140451002 [GRCh38]
Chr8:141461101 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.300C>T (p.His100=) |
single nucleotide variant |
not provided [RCV002643927] |
Chr8:140451074 [GRCh38]
Chr8:141461173 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3436G>C (p.Ala1146Pro) |
single nucleotide variant |
not provided [RCV003024836] |
Chr8:139731072 [GRCh38]
Chr8:140743315 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1057C>T (p.Arg353Cys) |
single nucleotide variant |
not provided [RCV002594998] |
Chr8:140397697 [GRCh38]
Chr8:141407796 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1134+11G>A |
single nucleotide variant |
not provided [RCV002626073] |
Chr8:140397609 [GRCh38]
Chr8:141407708 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2706G>A (p.Arg902=) |
single nucleotide variant |
not provided [RCV002711831] |
Chr8:139988830 [GRCh38]
Chr8:140999038 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-160C>T |
single nucleotide variant |
not provided [RCV002711612] |
Chr8:140458430 [GRCh38]
Chr8:141468529 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2908C>T (p.Arg970Trp) |
single nucleotide variant |
not provided [RCV002594324] |
Chr8:139910203 [GRCh38]
Chr8:140922447 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3120C>T (p.Pro1040=) |
single nucleotide variant |
not provided [RCV002572967] |
Chr8:139732138 [GRCh38]
Chr8:140744381 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.284C>T (p.Thr95Ile) |
single nucleotide variant |
not provided [RCV003004950] |
Chr8:140451090 [GRCh38]
Chr8:141461189 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2114+11C>T |
single nucleotide variant |
not provided [RCV002572873] |
Chr8:140283878 [GRCh38]
Chr8:141293977 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2923G>A (p.Gly975Ser) |
single nucleotide variant |
not provided [RCV002710369] |
Chr8:139910188 [GRCh38]
Chr8:140922432 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2557-11dup |
duplication |
not provided [RCV002574118] |
Chr8:140024089..140024090 [GRCh38]
Chr8:141034186..141034187 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1495+3G>C |
single nucleotide variant |
not provided [RCV002852215] |
Chr8:140360047 [GRCh38]
Chr8:141370146 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.223C>T (p.Arg75Cys) |
single nucleotide variant |
not provided [RCV002700125] |
Chr8:140451151 [GRCh38]
Chr8:141461250 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1488G>A (p.Ser496=) |
single nucleotide variant |
not provided [RCV003083063] |
Chr8:140360057 [GRCh38]
Chr8:141370156 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2985C>T (p.Gly995=) |
single nucleotide variant |
not provided [RCV002574829] |
Chr8:139885949 [GRCh38]
Chr8:140898193 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1348A>G (p.Arg450Gly) |
single nucleotide variant |
not provided [RCV002985387] |
Chr8:140370967 [GRCh38]
Chr8:141381066 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1296C>G (p.Leu432=) |
single nucleotide variant |
not provided [RCV002642660] |
Chr8:140371019 [GRCh38]
Chr8:141381118 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2099G>C (p.Ser700Thr) |
single nucleotide variant |
not provided [RCV003006162] |
Chr8:140283904 [GRCh38]
Chr8:141294003 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.975C>T (p.Asp325=) |
single nucleotide variant |
not provided [RCV002700220] |
Chr8:140405610 [GRCh38]
Chr8:141415709 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3310G>A (p.Gly1104Arg) |
single nucleotide variant |
not provided [RCV002594144] |
Chr8:139731198 [GRCh38]
Chr8:140743441 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3257C>T (p.Ser1086Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002916364] |
Chr8:139732001 [GRCh38]
Chr8:140744244 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2700-17T>G |
single nucleotide variant |
not provided [RCV002801420] |
Chr8:139988853 [GRCh38]
Chr8:140999061 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1323G>T (p.Leu441=) |
single nucleotide variant |
not provided [RCV002851613] |
Chr8:140370992 [GRCh38]
Chr8:141381091 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.652A>G (p.Met218Val) |
single nucleotide variant |
not provided [RCV002875749] |
Chr8:140439130 [GRCh38]
Chr8:141449229 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1487C>T (p.Ser496Leu) |
single nucleotide variant |
not provided [RCV002598349] |
Chr8:140360058 [GRCh38]
Chr8:141370157 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1413C>T (p.Ser471=) |
single nucleotide variant |
not provided [RCV002598350] |
Chr8:140360132 [GRCh38]
Chr8:141370231 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2748T>C (p.His916=) |
single nucleotide variant |
not provided [RCV002746404] |
Chr8:139988788 [GRCh38]
Chr8:140998996 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1768+12A>G |
single nucleotide variant |
not provided [RCV002577189] |
Chr8:140300457 [GRCh38]
Chr8:141310556 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.135C>T (p.Ser45=) |
single nucleotide variant |
not provided [RCV002626237] |
Chr8:140451239 [GRCh38]
Chr8:141461338 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.584+16G>T |
single nucleotide variant |
not provided [RCV002626921] |
Chr8:140450774 [GRCh38]
Chr8:141460873 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2485C>T (p.Arg829Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002937902]|not provided [RCV002918971] |
Chr8:140221530 [GRCh38]
Chr8:141231629 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.806G>A (p.Arg269Gln) |
single nucleotide variant |
not provided [RCV002596456] |
Chr8:140435165 [GRCh38]
Chr8:141445264 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2824G>A (p.Val942Met) |
single nucleotide variant |
not provided [RCV002596335] |
Chr8:139910287 [GRCh38]
Chr8:140922531 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1872A>C (p.Gly624=) |
single nucleotide variant |
not provided [RCV002876817] |
Chr8:140287717 [GRCh38]
Chr8:141297816 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2031C>G (p.Asn677Lys) |
single nucleotide variant |
not provided [RCV002933621] |
Chr8:140283972 [GRCh38]
Chr8:141294071 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1981+12C>G |
single nucleotide variant |
not provided [RCV002576609] |
Chr8:140287596 [GRCh38]
Chr8:141297695 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3013C>T (p.Gln1005Ter) |
single nucleotide variant |
not provided [RCV002830131] |
Chr8:139885921 [GRCh38]
Chr8:140898165 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1495+12C>G |
single nucleotide variant |
not provided [RCV002805851] |
Chr8:140360038 [GRCh38]
Chr8:141370137 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.788G>A (p.Gly263Asp) |
single nucleotide variant |
not provided [RCV002746035] |
Chr8:140435183 [GRCh38]
Chr8:141445282 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2478G>A (p.Gln826=) |
single nucleotide variant |
not provided [RCV002745344] |
Chr8:140221537 [GRCh38]
Chr8:141231636 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2328C>T (p.Ala776=) |
single nucleotide variant |
not provided [RCV002667718] |
Chr8:140252880 [GRCh38]
Chr8:141262979 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.391G>A (p.Asp131Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004068056]|not provided [RCV002958398] |
Chr8:140450983 [GRCh38]
Chr8:141461082 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2055C>G (p.Gly685=) |
single nucleotide variant |
not provided [RCV002791507] |
Chr8:140283948 [GRCh38]
Chr8:141294047 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.428C>T (p.Thr143Met) |
single nucleotide variant |
not provided [RCV002805549] |
Chr8:140450946 [GRCh38]
Chr8:141461045 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3273C>G (p.Leu1091=) |
single nucleotide variant |
not provided [RCV002806552] |
Chr8:139731985 [GRCh38]
Chr8:140744228 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-174G>T |
single nucleotide variant |
not provided [RCV003063890] |
Chr8:140458444 [GRCh38]
Chr8:141468543 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1959G>A (p.Thr653=) |
single nucleotide variant |
not provided [RCV003090477] |
Chr8:140287630 [GRCh38]
Chr8:141297729 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2933T>C (p.Ile978Thr) |
single nucleotide variant |
not provided [RCV002650633] |
Chr8:139910178 [GRCh38]
Chr8:140922422 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3204C>G (p.His1068Gln) |
single nucleotide variant |
not provided [RCV002631656] |
Chr8:139732054 [GRCh38]
Chr8:140744297 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1769-13G>A |
single nucleotide variant |
not provided [RCV002580646] |
Chr8:140291091 [GRCh38]
Chr8:141301190 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3174C>T (p.Phe1058=) |
single nucleotide variant |
not provided [RCV002962095] |
Chr8:139732084 [GRCh38]
Chr8:140744327 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-283T>C |
single nucleotide variant |
not provided [RCV002649594] |
Chr8:140458553 [GRCh38]
Chr8:141468652 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.990G>A (p.Ala330=) |
single nucleotide variant |
not provided [RCV003062902] |
Chr8:140405595 [GRCh38]
Chr8:141415694 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.114T>A (p.Ile38=) |
single nucleotide variant |
not provided [RCV002579098] |
Chr8:140451260 [GRCh38]
Chr8:141461359 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.252A>G (p.Thr84=) |
single nucleotide variant |
not provided [RCV003009679] |
Chr8:140451122 [GRCh38]
Chr8:141461221 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2278+1G>T |
single nucleotide variant |
not provided [RCV003028728] |
Chr8:140275657 [GRCh38]
Chr8:141285756 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.3279+4C>A |
single nucleotide variant |
not provided [RCV003046355] |
Chr8:139731975 [GRCh38]
Chr8:140744218 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2115-10C>A |
single nucleotide variant |
not provided [RCV002715876] |
Chr8:140275831 [GRCh38]
Chr8:141285930 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3210C>T (p.Asn1070=) |
single nucleotide variant |
not provided [RCV003087694] |
Chr8:139732048 [GRCh38]
Chr8:140744291 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.562G>T (p.Val188Leu) |
single nucleotide variant |
not provided [RCV002922974] |
Chr8:140450812 [GRCh38]
Chr8:141460911 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.775C>T (p.Pro259Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002879394] |
Chr8:140435196 [GRCh38]
Chr8:141445295 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.949T>A (p.Cys317Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002856725]|not provided [RCV002835141] |
Chr8:140405636 [GRCh38]
Chr8:141415735 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2114+16G>A |
single nucleotide variant |
not provided [RCV002899020] |
Chr8:140283873 [GRCh38]
Chr8:141293972 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2875C>A (p.Gln959Lys) |
single nucleotide variant |
not provided [RCV002631364] |
Chr8:139910236 [GRCh38]
Chr8:140922480 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-71G>T |
single nucleotide variant |
not provided [RCV003087205] |
Chr8:140458341 [GRCh38]
Chr8:141468440 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.453C>T (p.Phe151=) |
single nucleotide variant |
not provided [RCV002600803] |
Chr8:140450921 [GRCh38]
Chr8:141461020 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2378A>G (p.Lys793Arg) |
single nucleotide variant |
not provided [RCV002600302] |
Chr8:140252830 [GRCh38]
Chr8:141262929 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2808G>A (p.Gln936=) |
single nucleotide variant |
not provided [RCV003088857] |
Chr8:139988728 [GRCh38]
Chr8:140998936 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.956G>T (p.Ser319Ile) |
single nucleotide variant |
not provided [RCV003029035] |
Chr8:140405629 [GRCh38]
Chr8:141415728 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1829C>T (p.Pro610Leu) |
single nucleotide variant |
not provided [RCV002717268] |
Chr8:140291018 [GRCh38]
Chr8:141301117 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2990C>T (p.Ala997Val) |
single nucleotide variant |
not provided [RCV002921885] |
Chr8:139885944 [GRCh38]
Chr8:140898188 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1899G>A (p.Ala633=) |
single nucleotide variant |
not provided [RCV002962545] |
Chr8:140287690 [GRCh38]
Chr8:141297789 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.770A>C (p.His257Pro) |
single nucleotide variant |
not provided [RCV002938031] |
Chr8:140435201 [GRCh38]
Chr8:141445300 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2115-16CTT[2] |
microsatellite |
not provided [RCV002937110] |
Chr8:140275829..140275831 [GRCh38]
Chr8:141285928..141285930 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.271G>A (p.Asp91Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003274003]|not provided [RCV002717044] |
Chr8:140451103 [GRCh38]
Chr8:141461202 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3113G>T (p.Gly1038Val) |
single nucleotide variant |
not provided [RCV002647673] |
Chr8:139732145 [GRCh38]
Chr8:140744388 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1729A>G (p.Ile577Val) |
single nucleotide variant |
not provided [RCV003010487] |
Chr8:140300508 [GRCh38]
Chr8:141310607 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3324C>T (p.Phe1108=) |
single nucleotide variant |
not provided [RCV003011201] |
Chr8:139731184 [GRCh38]
Chr8:140743427 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1495+10C>A |
single nucleotide variant |
not provided [RCV002580193] |
Chr8:140360040 [GRCh38]
Chr8:141370139 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1736A>C (p.His579Pro) |
single nucleotide variant |
TRAPPC9-related condition [RCV003898498]|not provided [RCV002721826] |
Chr8:140300501 [GRCh38]
Chr8:141310600 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2965-16C>T |
single nucleotide variant |
not provided [RCV002608609] |
Chr8:139885985 [GRCh38]
Chr8:140898229 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2557-14_2557-13inv |
inversion |
not provided [RCV002608379] |
Chr8:140024092..140024093 [GRCh38]
Chr8:141034189..141034190 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1967C>T (p.Thr656Met) |
single nucleotide variant |
not provided [RCV002587652] |
Chr8:140287622 [GRCh38]
Chr8:141297721 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2947G>A (p.Gly983Ser) |
single nucleotide variant |
not provided [RCV002586379] |
Chr8:139910164 [GRCh38]
Chr8:140922408 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.444C>T (p.Ile148=) |
single nucleotide variant |
not provided [RCV002609049] |
Chr8:140450930 [GRCh38]
Chr8:141461029 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2442T>C (p.Ser814=) |
single nucleotide variant |
not provided [RCV002608521] |
Chr8:140221573 [GRCh38]
Chr8:141231672 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2657C>T (p.Pro886Leu) |
single nucleotide variant |
not provided [RCV002587817] |
Chr8:140023979 [GRCh38]
Chr8:141034076 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.465G>C (p.Leu155=) |
single nucleotide variant |
not provided [RCV002653031] |
Chr8:140450909 [GRCh38]
Chr8:141461008 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.603C>T (p.Cys201=) |
single nucleotide variant |
not provided [RCV002721505] |
Chr8:140439179 [GRCh38]
Chr8:141449278 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.995C>T (p.Ser332Phe) |
single nucleotide variant |
not provided [RCV002811758] |
Chr8:140405590 [GRCh38]
Chr8:141415689 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2263G>T (p.Val755Phe) |
single nucleotide variant |
not provided [RCV002654196] |
Chr8:140275673 [GRCh38]
Chr8:141285772 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2519C>T (p.Pro840Leu) |
single nucleotide variant |
not provided [RCV002601611] |
Chr8:140221496 [GRCh38]
Chr8:141231595 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-55C>T |
single nucleotide variant |
not provided [RCV002631775] |
Chr8:140458325 [GRCh38]
Chr8:141468424 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2520C>T (p.Pro840=) |
single nucleotide variant |
not provided [RCV002602826] |
Chr8:140221495 [GRCh38]
Chr8:141231594 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1981+15T>G |
single nucleotide variant |
not provided [RCV003048235] |
Chr8:140287593 [GRCh38]
Chr8:141297692 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1521A>G (p.Leu507=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003898477]|not provided [RCV002676132] |
Chr8:140311349 [GRCh38]
Chr8:141321448 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.860-12T>C |
single nucleotide variant |
not provided [RCV003031969] |
Chr8:140426653 [GRCh38]
Chr8:141436752 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2776G>A (p.Glu926Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004068227]|not provided [RCV002966883] |
Chr8:139988760 [GRCh38]
Chr8:140998968 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1926G>A (p.Leu642=) |
single nucleotide variant |
not provided [RCV002606081] |
Chr8:140287663 [GRCh38]
Chr8:141297762 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1293C>T (p.Leu431=) |
single nucleotide variant |
not provided [RCV002632639] |
Chr8:140371022 [GRCh38]
Chr8:141381121 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2690C>A (p.Pro897Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002944804] |
Chr8:140023946 [GRCh38]
Chr8:141034043 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3098C>T (p.Ala1033Val) |
single nucleotide variant |
not provided [RCV003069521] |
Chr8:139732160 [GRCh38]
Chr8:140744403 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1194C>G (p.Ile398Met) |
single nucleotide variant |
not provided [RCV002725290] |
Chr8:140371121 [GRCh38]
Chr8:141381220 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.584+20C>G |
single nucleotide variant |
not provided [RCV002635615] |
Chr8:140450770 [GRCh38]
Chr8:141460869 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.385C>T (p.Arg129Cys) |
single nucleotide variant |
not provided [RCV003093080] |
Chr8:140450989 [GRCh38]
Chr8:141461088 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1959G>T (p.Thr653=) |
single nucleotide variant |
not provided [RCV003069114] |
Chr8:140287630 [GRCh38]
Chr8:141297729 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1626T>A (p.His542Gln) |
single nucleotide variant |
not provided [RCV002812016] |
Chr8:140300611 [GRCh38]
Chr8:141310710 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2192G>A (p.Ser731Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003274088]|not provided [RCV002942337] |
Chr8:140275744 [GRCh38]
Chr8:141285843 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.886+3_886+6dup |
duplication |
not provided [RCV002582611] |
Chr8:140426608..140426609 [GRCh38]
Chr8:141436707..141436708 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3080G>A (p.Cys1027Tyr) |
single nucleotide variant |
not provided [RCV002605153] |
Chr8:139732178 [GRCh38]
Chr8:140744421 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3214G>A (p.Val1072Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004071616]|not provided [RCV003068935] |
Chr8:139732044 [GRCh38]
Chr8:140744287 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2557-73221G>A |
single nucleotide variant |
not provided [RCV003223290] |
Chr8:140097300 [GRCh38]
Chr8:141107399 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_031466.8(TRAPPC9):c.-282G>A |
single nucleotide variant |
not provided [RCV003159497] |
Chr8:140458552 [GRCh38]
Chr8:141468651 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1040C>T (p.Ala347Val) |
single nucleotide variant |
not provided [RCV003110788] |
Chr8:140397714 [GRCh38]
Chr8:141407813 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.373G>A (p.Val125Met) |
single nucleotide variant |
not provided [RCV003114963] |
Chr8:140451001 [GRCh38]
Chr8:141461100 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NC_000008.10:g.(?_141285737)_(141285940_?)del |
deletion |
not provided [RCV003122808] |
Chr8:141285737..141285940 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NC_000008.10:g.(?_141034014)_(141034196_?)del |
deletion |
not provided [RCV003122809] |
Chr8:141034014..141034196 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NC_000008.10:g.(?_141262856)_(141321493_?)del |
deletion |
not provided [RCV003122810] |
Chr8:141262856..141321493 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NC_000008.10:g.(?_141468360)_(141468663_?)dup |
duplication |
not provided [RCV003122811] |
Chr8:141468360..141468663 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NC_000008.10:g.(?_141445191)_(141468663_?)dup |
duplication |
not provided [RCV003122812] |
Chr8:141445191..141468663 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NC_000008.10:g.(?_139601496)_(141468663_?)dup |
duplication |
not provided [RCV003122813] |
Chr8:139601496..141468663 [GRCh37]
Chr8:8q24.23-24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1380G>T (p.Gln460His) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003120212] |
Chr8:140360165 [GRCh38]
Chr8:141370264 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.189C>T (p.Pro63=) |
single nucleotide variant |
not provided [RCV003121997] |
Chr8:140451185 [GRCh38]
Chr8:141461284 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.372C>T (p.Ile124=) |
single nucleotide variant |
not provided [RCV003118386] |
Chr8:140451002 [GRCh38]
Chr8:141461101 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-229C>T |
single nucleotide variant |
not provided [RCV003112499] |
Chr8:140458499 [GRCh38]
Chr8:141468598 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1730T>C (p.Ile577Thr) |
single nucleotide variant |
not provided [RCV003114138] |
Chr8:140300507 [GRCh38]
Chr8:141310606 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1855-12C>T |
single nucleotide variant |
not provided [RCV002588987] |
Chr8:140287746 [GRCh38]
Chr8:141297845 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2761A>C (p.Ser921Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003142759] |
Chr8:139988775 [GRCh38]
Chr8:140998983 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2067A>T (p.Glu689Asp) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003142760] |
Chr8:140283936 [GRCh38]
Chr8:141294035 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.124A>G (p.Ser42Gly) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003142761] |
Chr8:140451250 [GRCh38]
Chr8:141461349 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-103G>A |
single nucleotide variant |
not provided [RCV002589591] |
Chr8:140458373 [GRCh38]
Chr8:141468472 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2431+6C>T |
single nucleotide variant |
not provided [RCV002609278] |
Chr8:140252771 [GRCh38]
Chr8:141262870 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2700-8del |
deletion |
not provided [RCV003105196] |
Chr8:139988844 [GRCh38]
Chr8:140999052 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1204C>T (p.Arg402Cys) |
single nucleotide variant |
not provided [RCV002589100] |
Chr8:140371111 [GRCh38]
Chr8:141381210 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1995G>A (p.Thr665=) |
single nucleotide variant |
not provided [RCV002611879] |
Chr8:140284008 [GRCh38]
Chr8:141294107 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2457C>T (p.Pro819=) |
single nucleotide variant |
not provided [RCV002611956] |
Chr8:140221558 [GRCh38]
Chr8:141231657 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.393C>T (p.Asp131=) |
single nucleotide variant |
not provided [RCV002611989] |
Chr8:140450981 [GRCh38]
Chr8:141461080 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2700-5C>T |
single nucleotide variant |
not provided [RCV002610993] |
Chr8:139988841 [GRCh38]
Chr8:140999049 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.-10-2A>G |
single nucleotide variant |
not provided [RCV002613351] |
Chr8:140451385 [GRCh38]
Chr8:141461484 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.318C>T (p.Tyr106=) |
single nucleotide variant |
not provided [RCV003104871] |
Chr8:140451056 [GRCh38]
Chr8:141461155 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2123del (p.His708fs) |
deletion |
Intellectual disability, autosomal recessive 13 [RCV003223456] |
Chr8:140275813 [GRCh38]
Chr8:141285912 [GRCh37]
Chr8:8q24.3 |
not provided |
| NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs) |
deletion |
Intellectual disability, autosomal recessive 13 [RCV003226103] |
Chr8:140450928..140450943 [GRCh38]
Chr8:141461027..141461042 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.289G>A (p.Glu97Lys) |
single nucleotide variant |
not provided [RCV003229162] |
Chr8:140451085 [GRCh38]
Chr8:141461184 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1623-1G>A |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003226044] |
Chr8:140300615 [GRCh38]
Chr8:141310714 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs) |
duplication |
Intellectual disability, autosomal recessive 13 [RCV003226102] |
Chr8:139910295..139910296 [GRCh38]
Chr8:140922539..140922540 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.3117C>A (p.Asp1039Glu) |
single nucleotide variant |
not provided [RCV003313706] |
Chr8:139732141 [GRCh38]
Chr8:140744384 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2557-70923A>G |
single nucleotide variant |
not provided [RCV003312722] |
Chr8:140095002 [GRCh38]
Chr8:141105101 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_001160372.4(TRAPPC9):c.2675G>C (p.Arg892Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003198983] |
Chr8:140023961 [GRCh38]
Chr8:141034058 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2557-74608G>A |
single nucleotide variant |
not provided [RCV003312723] |
Chr8:140098687 [GRCh38]
Chr8:141108786 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.838G>A (p.Ala280Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003213063] |
Chr8:140435133 [GRCh38]
Chr8:141445232 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3067G>T (p.Asp1023Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003273926] |
Chr8:139732191 [GRCh38]
Chr8:140744434 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.560T>C (p.Phe187Ser) |
single nucleotide variant |
not provided [RCV003323168] |
Chr8:140450814 [GRCh38]
Chr8:141460913 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913) |
copy number gain |
Distal trisomy 8q [RCV003325441] |
Chr8:131138343..143473913 [GRCh37]
Chr8:8q24.21-24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2557-75059C>G |
single nucleotide variant |
not provided [RCV003327206] |
Chr8:140099138 [GRCh38]
Chr8:141109237 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.-11+6T>G |
single nucleotide variant |
not provided [RCV003329067] |
Chr8:140457633 [GRCh38]
Chr8:141467732 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003336627] |
Chr8:140275763 [GRCh38]
Chr8:141285862 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.799G>A (p.Gly267Arg) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003336628] |
Chr8:140435172 [GRCh38]
Chr8:141445271 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3124C>T (p.Arg1042Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003259304] |
Chr8:139732134 [GRCh38]
Chr8:140744377 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2482G>A (p.Val828Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003302559] |
Chr8:140221533 [GRCh38]
Chr8:141231632 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3041C>T (p.Ala1014Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003242608] |
Chr8:139885893 [GRCh38]
Chr8:140898137 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2283A>C (p.Lys761Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003295848] |
Chr8:140252925 [GRCh38]
Chr8:141263024 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1538A>G (p.Lys513Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003384838] |
Chr8:140311332 [GRCh38]
Chr8:141321431 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2020T>A (p.Leu674Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003366870] |
Chr8:140283983 [GRCh38]
Chr8:141294082 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.101T>G (p.Ile34Ser) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003333305] |
Chr8:140451273 [GRCh38]
Chr8:141461372 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1403T>G (p.Val468Gly) |
single nucleotide variant |
not provided [RCV003441284] |
Chr8:140360142 [GRCh38]
Chr8:141370241 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2186del (p.Gly729fs) |
deletion |
Intellectual disability, autosomal recessive 13 [RCV003405213] |
Chr8:140275750 [GRCh38]
Chr8:141285849 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2912G>A (p.Arg971Gln) |
single nucleotide variant |
not provided [RCV003440681] |
Chr8:139910199 [GRCh38]
Chr8:140922443 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2557-70820G>A |
single nucleotide variant |
not provided [RCV003440682] |
Chr8:140094899 [GRCh38]
Chr8:141104998 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2557-71762G>A |
single nucleotide variant |
not provided [RCV003440683] |
Chr8:140095841 [GRCh38]
Chr8:141105940 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.81C>T (p.Ser27=) |
single nucleotide variant |
not provided [RCV003440684] |
Chr8:140451293 [GRCh38]
Chr8:141461392 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1226G>A (p.Arg409His) |
single nucleotide variant |
Inborn genetic diseases [RCV003355135] |
Chr8:140371089 [GRCh38]
Chr8:141381188 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.933C>T (p.Ile311=) |
single nucleotide variant |
not provided [RCV003874264] |
Chr8:140405652 [GRCh38]
Chr8:141415751 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8q24.3(chr8:141286570-141517458)x3 |
copy number gain |
not provided [RCV003484751] |
Chr8:141286570..141517458 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-238T>C |
single nucleotide variant |
not provided [RCV003699571] |
Chr8:140458508 [GRCh38]
Chr8:141468607 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1113A>C (p.Ala371=) |
single nucleotide variant |
not provided [RCV003713533] |
Chr8:140397641 [GRCh38]
Chr8:141407740 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2305T>C (p.Trp769Arg) |
single nucleotide variant |
TRAPPC9-related condition [RCV003414319] |
Chr8:140252903 [GRCh38]
Chr8:141263002 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.584+10C>T |
single nucleotide variant |
not provided [RCV003715825] |
Chr8:140450780 [GRCh38]
Chr8:141460879 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.730+16G>A |
single nucleotide variant |
not provided [RCV003689792] |
Chr8:140439036 [GRCh38]
Chr8:141449135 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.860-16C>G |
single nucleotide variant |
not provided [RCV003570299] |
Chr8:140426657 [GRCh38]
Chr8:141436756 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1807C>T (p.Leu603=) |
single nucleotide variant |
not provided [RCV003715310] |
Chr8:140291040 [GRCh38]
Chr8:141301139 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1009-6del |
deletion |
not provided [RCV003547141] |
Chr8:140397751 [GRCh38]
Chr8:141407850 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 |
copy number gain |
not provided [RCV003484752] |
Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.3127C>T (p.Leu1043=) |
single nucleotide variant |
not provided [RCV003543881] |
Chr8:139732131 [GRCh38]
Chr8:140744374 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1412C>T (p.Ser471Phe) |
single nucleotide variant |
not provided [RCV003573342] |
Chr8:140360133 [GRCh38]
Chr8:141370232 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1099T>G (p.Phe367Val) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003448828] |
Chr8:140397655 [GRCh38]
Chr8:141407754 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3347T>C (p.Leu1116Pro) |
single nucleotide variant |
not provided [RCV003573341] |
Chr8:139731161 [GRCh38]
Chr8:140743404 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1758C>A (p.Asn586Lys) |
single nucleotide variant |
not provided [RCV003875543] |
Chr8:140300479 [GRCh38]
Chr8:141310578 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_031466.8(TRAPPC9):c.-110_-103dup |
duplication |
not provided [RCV003695595] |
Chr8:140458372..140458373 [GRCh38]
Chr8:141468471..141468472 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2841dup (p.Glu948Ter) |
duplication |
not provided [RCV003661642] |
Chr8:139910269..139910270 [GRCh38]
Chr8:140922513..140922514 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.604del (p.Gln202fs) |
deletion |
not provided [RCV003571212] |
Chr8:140439178 [GRCh38]
Chr8:141449277 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.1135-16dup |
duplication |
not provided [RCV003660498] |
Chr8:140371195..140371196 [GRCh38]
Chr8:141381294..141381295 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.585-11G>A |
single nucleotide variant |
not provided [RCV003828257] |
Chr8:140439208 [GRCh38]
Chr8:141449307 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2194C>T (p.Gln732Ter) |
single nucleotide variant |
not provided [RCV003826958] |
Chr8:140275742 [GRCh38]
Chr8:141285841 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2598G>A (p.Pro866=) |
single nucleotide variant |
not provided [RCV003738906] |
Chr8:140024038 [GRCh38]
Chr8:141034135 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.886+12A>G |
single nucleotide variant |
not provided [RCV003691287] |
Chr8:140426603 [GRCh38]
Chr8:141436702 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.842C>T (p.Ala281Val) |
single nucleotide variant |
not provided [RCV003826333] |
Chr8:140435129 [GRCh38]
Chr8:141445228 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1575C>A (p.Gly525=) |
single nucleotide variant |
not provided [RCV003827680] |
Chr8:140311295 [GRCh38]
Chr8:141321394 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2641C>T (p.His881Tyr) |
single nucleotide variant |
not provided [RCV003694586] |
Chr8:140023995 [GRCh38]
Chr8:141034092 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1281C>G (p.Ala427=) |
single nucleotide variant |
not provided [RCV003663479] |
Chr8:140371034 [GRCh38]
Chr8:141381133 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3351C>T (p.His1117=) |
single nucleotide variant |
not provided [RCV003576650] |
Chr8:139731157 [GRCh38]
Chr8:140743400 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1530T>C (p.Tyr510=) |
single nucleotide variant |
not provided [RCV003826863] |
Chr8:140311340 [GRCh38]
Chr8:141321439 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.11C>G (p.Pro4Arg) |
single nucleotide variant |
not provided [RCV003716177] |
Chr8:140451363 [GRCh38]
Chr8:141461462 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1941C>T (p.Leu647=) |
single nucleotide variant |
not provided [RCV003659365] |
Chr8:140287648 [GRCh38]
Chr8:141297747 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-204C>G |
single nucleotide variant |
not provided [RCV003849928] |
Chr8:140458474 [GRCh38]
Chr8:141468573 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3042G>A (p.Ala1014=) |
single nucleotide variant |
not provided [RCV003850107] |
Chr8:139885892 [GRCh38]
Chr8:140898136 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2121A>G (p.Ala707=) |
single nucleotide variant |
not provided [RCV003834579] |
Chr8:140275815 [GRCh38]
Chr8:141285914 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.825C>G (p.Thr275=) |
single nucleotide variant |
not provided [RCV003852088] |
Chr8:140435146 [GRCh38]
Chr8:141445245 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2699+13C>T |
single nucleotide variant |
not provided [RCV003856647] |
Chr8:140023924 [GRCh38]
Chr8:141034021 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2114+12G>A |
single nucleotide variant |
not provided [RCV003814906] |
Chr8:140283877 [GRCh38]
Chr8:141293976 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2700-12T>C |
single nucleotide variant |
not provided [RCV003856051] |
Chr8:139988848 [GRCh38]
Chr8:140999056 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1622+10G>A |
single nucleotide variant |
not provided [RCV003838099] |
Chr8:140311238 [GRCh38]
Chr8:141321337 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1911G>C (p.Pro637=) |
single nucleotide variant |
not provided [RCV003817076] |
Chr8:140287678 [GRCh38]
Chr8:141297777 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.3051G>A (p.Gln1017=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003909176]|not provided [RCV003835202] |
Chr8:139885883 [GRCh38]
Chr8:140898127 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.731-2A>C |
single nucleotide variant |
not provided [RCV003560535] |
Chr8:140435242 [GRCh38]
Chr8:141445341 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.1768+1G>A |
single nucleotide variant |
not provided [RCV003724580] |
Chr8:140300468 [GRCh38]
Chr8:141310567 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| NM_001160372.4(TRAPPC9):c.1137T>C (p.Leu379=) |
single nucleotide variant |
not provided [RCV003725476] |
Chr8:140371178 [GRCh38]
Chr8:141381277 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.237C>A (p.Gly79=) |
single nucleotide variant |
not provided [RCV003839417] |
Chr8:140451137 [GRCh38]
Chr8:141461236 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.51C>T (p.Leu17=) |
single nucleotide variant |
not provided [RCV003835493] |
Chr8:140451323 [GRCh38]
Chr8:141461422 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1860G>A (p.Leu620=) |
single nucleotide variant |
not provided [RCV003679942] |
Chr8:140287729 [GRCh38]
Chr8:141297828 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.887-9G>T |
single nucleotide variant |
not provided [RCV003819937] |
Chr8:140405707 [GRCh38]
Chr8:141415806 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1884G>A (p.Glu628=) |
single nucleotide variant |
not provided [RCV003861413] |
Chr8:140287705 [GRCh38]
Chr8:141297804 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-100C>T |
single nucleotide variant |
not provided [RCV003841109] |
Chr8:140458370 [GRCh38]
Chr8:141468469 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2397C>T (p.Ser799=) |
single nucleotide variant |
not provided [RCV003819346] |
Chr8:140252811 [GRCh38]
Chr8:141262910 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2965-11C>G |
single nucleotide variant |
not provided [RCV003678107] |
Chr8:139885980 [GRCh38]
Chr8:140898224 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1623-15T>C |
single nucleotide variant |
not provided [RCV003858004] |
Chr8:140300629 [GRCh38]
Chr8:141310728 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2082G>A (p.Leu694=) |
single nucleotide variant |
not provided [RCV003728110] |
Chr8:140283921 [GRCh38]
Chr8:141294020 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2632C>T (p.Leu878=) |
single nucleotide variant |
not provided [RCV003563511] |
Chr8:140024004 [GRCh38]
Chr8:141034101 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.886+7G>T |
single nucleotide variant |
not provided [RCV003553808] |
Chr8:140426608 [GRCh38]
Chr8:141436707 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2964+12C>T |
single nucleotide variant |
not provided [RCV003824258] |
Chr8:139910135 [GRCh38]
Chr8:140922379 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2279-18T>C |
single nucleotide variant |
not provided [RCV003566496] |
Chr8:140252947 [GRCh38]
Chr8:141263046 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2556+13G>C |
single nucleotide variant |
not provided [RCV003677103] |
Chr8:140221446 [GRCh38]
Chr8:141231545 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1299G>T (p.Leu433=) |
single nucleotide variant |
not provided [RCV003568419] |
Chr8:140371016 [GRCh38]
Chr8:141381115 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1608G>A (p.Lys536=) |
single nucleotide variant |
not provided [RCV003848152] |
Chr8:140311262 [GRCh38]
Chr8:141321361 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.456C>G (p.Ile152Met) |
single nucleotide variant |
not provided [RCV003734397] |
Chr8:140450918 [GRCh38]
Chr8:141461017 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.1353C>T (p.Gly451=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003909127]|not provided [RCV003729122] |
Chr8:140360192 [GRCh38]
Chr8:141370291 [GRCh37]
Chr8:8q24.3 |
benign|likely benign |
| NM_001160372.4(TRAPPC9):c.2142T>C (p.Ser714=) |
single nucleotide variant |
not provided [RCV003860333] |
Chr8:140275794 [GRCh38]
Chr8:141285893 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1352-4G>T |
single nucleotide variant |
not provided [RCV003864305] |
Chr8:140360197 [GRCh38]
Chr8:141370296 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1176C>T (p.Ser392=) |
single nucleotide variant |
not provided [RCV003858652] |
Chr8:140371139 [GRCh38]
Chr8:141381238 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.129G>A (p.Gln43=) |
single nucleotide variant |
not provided [RCV003864690] |
Chr8:140451245 [GRCh38]
Chr8:141461344 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2739C>A (p.Ser913=) |
single nucleotide variant |
not provided [RCV003710830] |
Chr8:139988797 [GRCh38]
Chr8:140999005 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.168C>T (p.Arg56=) |
single nucleotide variant |
not provided [RCV003731610] |
Chr8:140451206 [GRCh38]
Chr8:141461305 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2431+17T>G |
single nucleotide variant |
not provided [RCV003564081] |
Chr8:140252760 [GRCh38]
Chr8:141262859 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.585-20C>A |
single nucleotide variant |
not provided [RCV003842619] |
Chr8:140439217 [GRCh38]
Chr8:141449316 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2278+14G>A |
single nucleotide variant |
not provided [RCV003677601] |
Chr8:140275644 [GRCh38]
Chr8:141285743 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2259G>A (p.Ser753=) |
single nucleotide variant |
not provided [RCV003728936] |
Chr8:140275677 [GRCh38]
Chr8:141285776 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2018del (p.Cys673fs) |
deletion |
not provided [RCV003564524] |
Chr8:140283985 [GRCh38]
Chr8:141294084 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.2625T>C (p.Asn875=) |
single nucleotide variant |
not provided [RCV003676823] |
Chr8:140024011 [GRCh38]
Chr8:141034108 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1953G>A (p.Pro651=) |
single nucleotide variant |
not provided [RCV003729150] |
Chr8:140287636 [GRCh38]
Chr8:141297735 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.81C>G (p.Ser27=) |
single nucleotide variant |
not provided [RCV003551658] |
Chr8:140451293 [GRCh38]
Chr8:141461392 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.203G>A (p.Trp68Ter) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003988328] |
Chr8:140451171 [GRCh38]
Chr8:141461270 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.231C>G (p.Val77=) |
single nucleotide variant |
not provided [RCV003868854] |
Chr8:140451143 [GRCh38]
Chr8:141461242 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.429G>A (p.Thr143=) |
single nucleotide variant |
not provided [RCV003721691] |
Chr8:140450945 [GRCh38]
Chr8:141461044 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.465G>A (p.Leu155=) |
single nucleotide variant |
not provided [RCV003871385] |
Chr8:140450909 [GRCh38]
Chr8:141461008 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_031466.8(TRAPPC9):c.-157A>C |
single nucleotide variant |
TRAPPC9-related condition [RCV003941989] |
Chr8:140458427 [GRCh38]
Chr8:141468526 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2279-10A>G |
single nucleotide variant |
not provided [RCV003853250] |
Chr8:140252939 [GRCh38]
Chr8:141263038 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2664A>G (p.Val888=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003961860] |
Chr8:140023972 [GRCh38]
Chr8:141034069 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.252A>C (p.Thr84=) |
single nucleotide variant |
TRAPPC9-related condition [RCV003904151] |
Chr8:140451122 [GRCh38]
Chr8:141461221 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.1495+10C>T |
single nucleotide variant |
not provided [RCV003869936] |
Chr8:140360040 [GRCh38]
Chr8:141370139 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs) |
duplication |
Intellectual disability, autosomal recessive 13 [RCV003988934] |
Chr8:140221494..140221495 [GRCh38]
Chr8:141231593..141231594 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_001160372.4(TRAPPC9):c.57G>A (p.Val19=) |
single nucleotide variant |
not provided [RCV003868675] |
Chr8:140451317 [GRCh38]
Chr8:141461416 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_001160372.4(TRAPPC9):c.700C>T (p.Arg234Cys) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003989159] |
Chr8:140439082 [GRCh38]
Chr8:141449181 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2074C>A (p.Pro692Thr) |
single nucleotide variant |
Intellectual disability, autosomal recessive 13 [RCV003990509] |
Chr8:140283929 [GRCh38]
Chr8:141294028 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.379C>G (p.Gln127Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004473459] |
Chr8:140450995 [GRCh38]
Chr8:141461094 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.866A>G (p.Gln289Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004473450] |
Chr8:140426635 [GRCh38]
Chr8:141436734 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.2002G>A (p.Gly668Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004473451] |
Chr8:140284001 [GRCh38]
Chr8:141294100 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.23A>T (p.Gln8Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004473452] |
Chr8:140451351 [GRCh38]
Chr8:141461450 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3038T>C (p.Leu1013Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004473453] |
Chr8:139885896 [GRCh38]
Chr8:140898140 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3086G>A (p.Arg1029His) |
single nucleotide variant |
Inborn genetic diseases [RCV004473454] |
Chr8:139732172 [GRCh38]
Chr8:140744415 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.3108G>C (p.Gln1036His) |
single nucleotide variant |
Inborn genetic diseases [RCV004473455] |
Chr8:139732150 [GRCh38]
Chr8:140744393 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_001160372.4(TRAPPC9):c.110G>T (p.Arg37Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004473457] |
Chr8:140451264 [GRCh38]
Chr8:141461363 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
