Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 190611 single nucleotide variant NM_022039.3(FBXW4):c.69C>G (p.Ala23=) 61761937 MedGen:C2699510;MedGen:CN169374 10 103454329 103454329 G C 190611 single nucleotide variant NM_022039.3(FBXW4):c.69C>G (p.Ala23=) 61761937 MedGen:C2699510;MedGen:CN169374 10 101694572 101694572 G C 190612 single nucleotide variant NM_022039.3(FBXW4):c.7G>C (p.Ala3Pro) 111600818 MedGen:C2699510;MedGen:CN169374 10 103454391 103454391 C G 190612 single nucleotide variant NM_022039.3(FBXW4):c.7G>C (p.Ala3Pro) 111600818 MedGen:C2699510;MedGen:CN169374 10 101694634 101694634 C G 190613 single nucleotide variant NM_022039.3(FBXW4):c.-5T>A 61382490 MedGen:C2699510;MedGen:CN169374 10 103454402 103454402 A T 190613 single nucleotide variant NM_022039.3(FBXW4):c.-5T>A 61382490 MedGen:C2699510;MedGen:CN169374 10 101694645 101694645 A T 266005 single nucleotide variant NM_022039.3(FBXW4):c.945T>C (p.Tyr315=) 35614606 MedGen:C2699510;MedGen:CN169374 10 103372126 103372126 A G 266005 single nucleotide variant NM_022039.3(FBXW4):c.945T>C (p.Tyr315=) 35614606 MedGen:C2699510;MedGen:CN169374 10 101612369 101612369 A G 267805 single nucleotide variant NM_022039.3(FBXW4):c.319C>T (p.Arg107Cys) 773413422 MedGen:CN169374 10 103436135 103436135 G A 267805 single nucleotide variant NM_022039.3(FBXW4):c.319C>T (p.Arg107Cys) 773413422 MedGen:CN169374 10 101676378 101676378 G A 267808 single nucleotide variant NM_022039.3(FBXW4):c.915C>T (p.Phe305=) 145250200 MedGen:CN169374 10 103372156 103372156 G A 267808 single nucleotide variant NM_022039.3(FBXW4):c.915C>T (p.Phe305=) 145250200 MedGen:CN169374 10 101612399 101612399 G A 270322 single nucleotide variant NM_022039.3(FBXW4):c.-9G>A 116070021 MedGen:CN169374 10 103454406 103454406 C T 270322 single nucleotide variant NM_022039.3(FBXW4):c.-9G>A 116070021 MedGen:CN169374 10 101694649 101694649 C T 272566 single nucleotide variant NM_022039.3(FBXW4):c.34G>A (p.Glu12Lys) 867314622 MedGen:CN169374 10 103454364 103454364 C T 272566 single nucleotide variant NM_022039.3(FBXW4):c.34G>A (p.Glu12Lys) 867314622 MedGen:CN169374 10 101694607 101694607 C T 275470 single nucleotide variant NM_022039.3(FBXW4):c.460C>T (p.Arg154Trp) 886044695 MedGen:CN169374 10 103433327 103433327 G A 275470 single nucleotide variant NM_022039.3(FBXW4):c.460C>T (p.Arg154Trp) 886044695 MedGen:CN169374 10 101673570 101673570 G A 309233 single nucleotide variant NM_022039.3(FBXW4):c.*259C>T 80085258 MedGen:C2699510 10 101611032 101611032 G A 309229 single nucleotide variant NM_022039.3(FBXW4):c.*453C>T 570558261 MedGen:C2699510 10 101610838 101610838 G A 309229 single nucleotide variant NM_022039.3(FBXW4):c.*453C>T 570558261 MedGen:C2699510 10 103370595 103370595 G A 309233 single nucleotide variant NM_022039.3(FBXW4):c.*259C>T 80085258 MedGen:C2699510 10 103370789 103370789 G A 309235 single nucleotide variant NM_022039.3(FBXW4):c.837-9C>T 771930157 MedGen:C2699510 10 103372243 103372243 G A 309235 single nucleotide variant NM_022039.3(FBXW4):c.837-9C>T 771930157 MedGen:C2699510 10 101612486 101612486 G A 309249 single nucleotide variant NM_022039.3(FBXW4):c.458G>A (p.Arg153His) 771654851 MedGen:C2699510 10 101673572 101673572 C T 309249 single nucleotide variant NM_022039.3(FBXW4):c.458G>A (p.Arg153His) 771654851 MedGen:C2699510 10 103433329 103433329 C T 309250 single nucleotide variant NM_022039.3(FBXW4):c.245G>A (p.Arg82Gln) 886046642 MedGen:C2699510 10 103454153 103454153 C T 309250 single nucleotide variant NM_022039.3(FBXW4):c.245G>A (p.Arg82Gln) 886046642 MedGen:C2699510 10 101694396 101694396 C T 309261 deletion NM_022039.3(FBXW4):c.38_40delAGG (p.Glu13del) 780365225 MedGen:C2699510 10 103454358 103454360 CCT - 309261 deletion NM_022039.3(FBXW4):c.38_40delAGG (p.Glu13del) 780365225 MedGen:C2699510 10 101694601 101694603 CCT - 309263 single nucleotide variant NM_022039.3(FBXW4):c.-26C>A 117664315 MedGen:C2699510 10 101694666 101694666 G T 309263 single nucleotide variant NM_022039.3(FBXW4):c.-26C>A 117664315 MedGen:C2699510 10 103454423 103454423 G T 309264 single nucleotide variant NM_022039.3(FBXW4):c.-92T>C 886046646 MedGen:C2699510 10 101694732 101694732 A G 309264 single nucleotide variant NM_022039.3(FBXW4):c.-92T>C 886046646 MedGen:C2699510 10 103454489 103454489 A G 309266 single nucleotide variant NM_022039.3(FBXW4):c.-250G>A 77990860 MedGen:C2699510 10 101694890 101694890 C T 309266 single nucleotide variant NM_022039.3(FBXW4):c.-250G>A 77990860 MedGen:C2699510 10 103454647 103454647 C T 313925 single nucleotide variant NM_022039.3(FBXW4):c.-332C>T 557225276 MedGen:C2699510 10 101694972 101694972 G A 313925 single nucleotide variant NM_022039.3(FBXW4):c.-332C>T 557225276 MedGen:C2699510 10 103454729 103454729 G A 313917 single nucleotide variant NM_022039.3(FBXW4):c.*233G>T 535051082 MedGen:C2699510 10 101611058 101611058 C A 313917 single nucleotide variant NM_022039.3(FBXW4):c.*233G>T 535051082 MedGen:C2699510 10 103370815 103370815 C A 313919 single nucleotide variant NM_022039.3(FBXW4):c.1192G>A (p.Ala398Thr) 200476624 MedGen:C2699510 10 101611338 101611338 C T 313919 single nucleotide variant NM_022039.3(FBXW4):c.1192G>A (p.Ala398Thr) 200476624 MedGen:C2699510 10 103371095 103371095 C T 313920 single nucleotide variant NM_022039.3(FBXW4):c.-274G>A 886046647 MedGen:C2699510 10 101694914 101694914 C T 313920 single nucleotide variant NM_022039.3(FBXW4):c.-274G>A 886046647 MedGen:C2699510 10 103454671 103454671 C T 319831 single nucleotide variant NM_022039.3(FBXW4):c.*7G>C 73349895 MedGen:C2699510 10 101611284 101611284 C G 319831 single nucleotide variant NM_022039.3(FBXW4):c.*7G>C 73349895 MedGen:C2699510 10 103371041 103371041 C G 319832 single nucleotide variant NM_022039.3(FBXW4):c.789G>A (p.Thr263=) 142870264 MedGen:C2699510 10 101624792 101624792 C T 319832 single nucleotide variant NM_022039.3(FBXW4):c.789G>A (p.Thr263=) 142870264 MedGen:C2699510 10 103384549 103384549 C T 319834 single nucleotide variant NM_022039.3(FBXW4):c.770+13T>G 193073481 MedGen:C2699510 10 101667873 101667873 A C 319834 single nucleotide variant NM_022039.3(FBXW4):c.770+13T>G 193073481 MedGen:C2699510 10 103427630 103427630 A C 319835 single nucleotide variant NM_022039.3(FBXW4):c.716A>G (p.His239Arg) 151048089 MedGen:C2699510 10 101667940 101667940 T C 319835 single nucleotide variant NM_022039.3(FBXW4):c.716A>G (p.His239Arg) 151048089 MedGen:C2699510 10 103427697 103427697 T C 319840 duplication NM_022039.3(FBXW4):c.42_44dupGGC (p.Ala15_Arg16insAla) 768227529 MedGen:C2699510;MedGen:CN169374 10 103454354 103454356 GCC GCCGCC 319840 duplication NM_022039.3(FBXW4):c.42_44dupGGC (p.Ala15_Arg16insAla) 768227529 MedGen:C2699510;MedGen:CN169374 10 101694597 101694599 GCC GCCGCC 320337 single nucleotide variant NM_022039.3(FBXW4):c.*606A>C 886046641 MedGen:C2699510 10 101610685 101610685 T G 320337 single nucleotide variant NM_022039.3(FBXW4):c.*606A>C 886046641 MedGen:C2699510 10 103370442 103370442 T G 320338 duplication NM_022039.3(FBXW4):c.*311_*314dupTATT 562226127 MedGen:C2699510 10 101610977 101610980 AATA AATAAATA 320338 duplication NM_022039.3(FBXW4):c.*311_*314dupTATT 562226127 MedGen:C2699510 10 103370734 103370737 AATA AATAAATA 320356 single nucleotide variant NM_022039.3(FBXW4):c.28G>A (p.Glu10Lys) 886046643 MedGen:C2699510 10 101694613 101694613 C T 320343 single nucleotide variant NM_022039.3(FBXW4):c.1008C>T (p.His336=) 147424741 MedGen:C2699510 10 101611739 101611739 G A 320343 single nucleotide variant NM_022039.3(FBXW4):c.1008C>T (p.His336=) 147424741 MedGen:C2699510 10 103371496 103371496 G A 320344 single nucleotide variant NM_022039.3(FBXW4):c.1000G>A (p.Glu334Lys) 770518721 MedGen:C2699510 10 101611747 101611747 C T 320344 single nucleotide variant NM_022039.3(FBXW4):c.1000G>A (p.Glu334Lys) 770518721 MedGen:C2699510 10 103371504 103371504 C T 320349 single nucleotide variant NM_022039.3(FBXW4):c.972C>T (p.Ser324=) 574963392 MedGen:C2699510 10 101612342 101612342 G A 320349 single nucleotide variant NM_022039.3(FBXW4):c.972C>T (p.Ser324=) 574963392 MedGen:C2699510 10 103372099 103372099 G A 320350 single nucleotide variant NM_022039.3(FBXW4):c.261-12G>T 755969920 MedGen:C2699510 10 103436205 103436205 C A 320350 single nucleotide variant NM_022039.3(FBXW4):c.261-12G>T 755969920 MedGen:C2699510 10 101676448 101676448 C A 320356 single nucleotide variant NM_022039.3(FBXW4):c.28G>A (p.Glu10Lys) 886046643 MedGen:C2699510 10 103454370 103454370 C T 320365 single nucleotide variant NM_022039.3(FBXW4):c.-29G>A 886046644 MedGen:C2699510 10 101694669 101694669 C T 320365 single nucleotide variant NM_022039.3(FBXW4):c.-29G>A 886046644 MedGen:C2699510 10 103454426 103454426 C T 320372 single nucleotide variant NM_022039.3(FBXW4):c.-57A>G 886046645 MedGen:C2699510 10 101694697 101694697 T C 320372 single nucleotide variant NM_022039.3(FBXW4):c.-57A>G 886046645 MedGen:C2699510 10 103454454 103454454 T C 320375 single nucleotide variant NM_022039.3(FBXW4):c.-113G>A 532195262 MedGen:C2699510 10 103454510 103454510 C T 320375 single nucleotide variant NM_022039.3(FBXW4):c.-113G>A 532195262 MedGen:C2699510 10 101694753 101694753 C T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000107829.13 FBXW4 608071