Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 54637 single nucleotide variant NM_006393.2(NEBL):c.1008+5A>G 703089 MedGen:CN169374 10 21141469 21141469 T C 54637 single nucleotide variant NM_006393.2(NEBL):c.1008+5A>G 703089 MedGen:CN169374 10 20852540 20852540 T C 54638 single nucleotide variant NM_006393.2(NEBL):c.1051A>G (p.Met351Val) 4025981 MedGen:CN169374 10 21139389 21139389 T C 54638 single nucleotide variant NM_006393.2(NEBL):c.1051A>G (p.Met351Val) 4025981 MedGen:CN169374 10 20850460 20850460 T C 54639 single nucleotide variant NM_006393.2(NEBL):c.109T>C (p.Leu37=) 140734883 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21185931 21185931 A G 54639 single nucleotide variant NM_006393.2(NEBL):c.109T>C (p.Leu37=) 140734883 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20897002 20897002 A G 54640 single nucleotide variant NM_006393.2(NEBL):c.1117-6T>G 71578938 MedGen:CN169374 10 21134303 21134303 A C 54640 single nucleotide variant NM_006393.2(NEBL):c.1117-6T>G 71578938 MedGen:CN169374 10 20845374 20845374 A C 54641 single nucleotide variant NM_006393.2(NEBL):c.1132G>C (p.Asp378His) 41277370 MedGen:CN169374 10 21134282 21134282 C G 54641 single nucleotide variant NM_006393.2(NEBL):c.1132G>C (p.Asp378His) 41277370 MedGen:CN169374 10 20845353 20845353 C G 54642 single nucleotide variant NM_006393.2(NEBL):c.11C>T (p.Pro4Leu) 114918858 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21186124 21186124 G A 54642 single nucleotide variant NM_006393.2(NEBL):c.11C>T (p.Pro4Leu) 114918858 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20897195 20897195 G A 54643 single nucleotide variant NM_006393.2(NEBL):c.1205A>C (p.Tyr402Ser) 375569591 MedGen:CN169374 10 21134209 21134209 T G 54643 single nucleotide variant NM_006393.2(NEBL):c.1205A>C (p.Tyr402Ser) 375569591 MedGen:CN169374 10 20845280 20845280 T G 54644 single nucleotide variant NM_006393.2(NEBL):c.120A>G (p.Glu40=) 397517203 MedGen:CN169374 10 21185920 21185920 T C 54644 single nucleotide variant NM_006393.2(NEBL):c.120A>G (p.Glu40=) 397517203 MedGen:CN169374 10 20896991 20896991 T C 54645 single nucleotide variant NM_006393.2(NEBL):c.1302C>G (p.Ile434Met) 202112717 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21129704 21129704 G C 54645 single nucleotide variant NM_006393.2(NEBL):c.1302C>G (p.Ile434Met) 202112717 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20840775 20840775 G C 54646 single nucleotide variant NM_006393.2(NEBL):c.1449+14G>A 373699154 MedGen:CN169374 10 21124428 21124428 C T 54646 single nucleotide variant NM_006393.2(NEBL):c.1449+14G>A 373699154 MedGen:CN169374 10 20835499 20835499 C T 54647 single nucleotide variant NM_006393.2(NEBL):c.14T>C (p.Val5Ala) 145770601 MedGen:CN169374 10 21186121 21186121 A G 54647 single nucleotide variant NM_006393.2(NEBL):c.14T>C (p.Val5Ala) 145770601 MedGen:CN169374 10 20897192 20897192 A G 54648 single nucleotide variant NM_006393.2(NEBL):c.153+15T>G 397517204 MedGen:CN169374 10 21185872 21185872 A C 54648 single nucleotide variant NM_006393.2(NEBL):c.153+15T>G 397517204 MedGen:CN169374 10 20896943 20896943 A C 54649 single nucleotide variant NM_006393.2(NEBL):c.154-11C>A 41277376 MedGen:CN169374 10 21178889 21178889 G T 54649 single nucleotide variant NM_006393.2(NEBL):c.154-11C>A 41277376 MedGen:CN169374 10 20889960 20889960 G T 54650 single nucleotide variant NM_006393.2(NEBL):c.1671+9T>C 10491056 MedGen:CN169374 10 21120116 21120116 A G 54650 single nucleotide variant NM_006393.2(NEBL):c.1671+9T>C 10491056 MedGen:CN169374 10 20831187 20831187 A G 54651 single nucleotide variant NM_006393.2(NEBL):c.1775C>A (p.Ala592Glu) 146275785 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21117460 21117460 G T 54651 single nucleotide variant NM_006393.2(NEBL):c.1775C>A (p.Ala592Glu) 146275785 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20828531 20828531 G T 54652 single nucleotide variant NM_006393.2(NEBL):c.180G>C (p.Lys60Asn) 41277374 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21178852 21178852 C G 54652 single nucleotide variant NM_006393.2(NEBL):c.180G>C (p.Lys60Asn) 41277374 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20889923 20889923 C G 54653 single nucleotide variant NM_006393.2(NEBL):c.1861A>G (p.Ile621Val) 79718972 MedGen:CN169374 10 21115384 21115384 T C 54653 single nucleotide variant NM_006393.2(NEBL):c.1861A>G (p.Ile621Val) 79718972 MedGen:CN169374 10 20826455 20826455 T C 54654 single nucleotide variant NM_006393.2(NEBL):c.1962T>A (p.Asn654Lys) 4748728 MedGen:CN169374 10 21112137 21112137 A T 54654 single nucleotide variant NM_006393.2(NEBL):c.1962T>A (p.Asn654Lys) 4748728 MedGen:CN169374 10 20823208 20823208 A T 54655 single nucleotide variant NM_006393.2(NEBL):c.2031G>A (p.Arg677=) 1006363 MedGen:CN169374 10 21108377 21108377 C T 54655 single nucleotide variant NM_006393.2(NEBL):c.2031G>A (p.Arg677=) 1006363 MedGen:CN169374 10 20819448 20819448 C T 54656 single nucleotide variant NM_006393.2(NEBL):c.2057T>C (p.Val686Ala) 74120667 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21106620 21106620 A G 54656 single nucleotide variant NM_006393.2(NEBL):c.2057T>C (p.Val686Ala) 74120667 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20817691 20817691 A G 54657 single nucleotide variant NM_006393.2(NEBL):c.2080C>T (p.Arg694Trp) 114875104 MedGen:CN169374 10 21106597 21106597 G A 54657 single nucleotide variant NM_006393.2(NEBL):c.2080C>T (p.Arg694Trp) 114875104 MedGen:CN169374 10 20817668 20817668 G A 54658 single nucleotide variant NM_006393.2(NEBL):c.2176G>A (p.Ala726Thr) 397517205 MedGen:CN169374 10 21104619 21104619 C T 54658 single nucleotide variant NM_006393.2(NEBL):c.2176G>A (p.Ala726Thr) 397517205 MedGen:CN169374 10 20815690 20815690 C T 54659 single nucleotide variant NM_006393.2(NEBL):c.2182A>G (p.Thr728Ala) 71535732 MedGen:CN169374 10 21104613 21104613 T C 54659 single nucleotide variant NM_006393.2(NEBL):c.2182A>G (p.Thr728Ala) 71535732 MedGen:CN169374 10 20815684 20815684 T C 54660 single nucleotide variant NM_006393.2(NEBL):c.2482A>G (p.Ile828Val) 143930021 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21101734 21101734 T C 54660 single nucleotide variant NM_006393.2(NEBL):c.2482A>G (p.Ile828Val) 143930021 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20812805 20812805 T C 54661 duplication NM_213569.2(NEBL):c.357+73457dupT 57918610 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21177144 21177144 A AA 54661 duplication NM_213569.2(NEBL):c.357+73457dupT 57918610 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20888215 20888215 A AA 54662 single nucleotide variant NM_006393.2(NEBL):c.2654C>T (p.Ser885Phe) 143584663 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21097546 21097546 G A 54662 single nucleotide variant NM_006393.2(NEBL):c.2654C>T (p.Ser885Phe) 143584663 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20808617 20808617 G A 54663 single nucleotide variant NM_006393.2(NEBL):c.2997A>G (p.Thr999=) 2296614 MedGen:CN169374 10 21074724 21074724 T C 54663 single nucleotide variant NM_006393.2(NEBL):c.2997A>G (p.Thr999=) 2296614 MedGen:CN169374 10 20785795 20785795 T C 54664 single nucleotide variant NM_006393.2(NEBL):c.480+3A>G 71578983 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21169720 21169720 T C 54664 single nucleotide variant NM_006393.2(NEBL):c.480+3A>G 71578983 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20880791 20880791 T C 54665 single nucleotide variant NM_006393.2(NEBL):c.604G>A (p.Gly202Arg) 137973321 MedGen:CN169374 10 21157673 21157673 C T 54665 single nucleotide variant NM_006393.2(NEBL):c.604G>A (p.Gly202Arg) 137973321 MedGen:CN169374 10 20868744 20868744 C T 54666 single nucleotide variant NM_006393.2(NEBL):c.656C>A (p.Ala219Asp) 2296610 MedGen:CN169374 10 21157621 21157621 G T 54666 single nucleotide variant NM_006393.2(NEBL):c.656C>A (p.Ala219Asp) 2296610 MedGen:CN169374 10 20868692 20868692 G T 57800 single nucleotide variant NM_213569.2(NEBL):c.-7C>T 141707642 MedGen:CN169374 10 21462769 21462769 G A 57800 single nucleotide variant NM_213569.2(NEBL):c.-7C>T 141707642 MedGen:CN169374 10 21173840 21173840 G A 142211 single nucleotide variant NM_006393.2(NEBL):c.1008+18C>T 75903914 MedGen:CN169374 10 21141456 21141456 G A 142211 single nucleotide variant NM_006393.2(NEBL):c.1008+18C>T 75903914 MedGen:CN169374 10 20852527 20852527 G A 142212 single nucleotide variant NM_006393.2(NEBL):c.2149-5G>A 71578956 MedGen:CN169374 10 21104651 21104651 C T 142212 single nucleotide variant NM_006393.2(NEBL):c.2149-5G>A 71578956 MedGen:CN169374 10 20815722 20815722 C T 155670 copy number loss GRCh38/hg38 10p12.31(chr10:21024667-21102182)x1 -1 - 10 21313596 21391111 na na 155670 copy number loss GRCh38/hg38 10p12.31(chr10:21024667-21102182)x1 -1 - 10 21024667 21102182 na na 155670 copy number loss GRCh38/hg38 10p12.31(chr10:21024667-21102182)x1 -1 - 10 21353602 21431117 na na 160231 copy number gain GRCh38/hg38 10p12.31(chr10:20871764-20994538)x3 -1 - 10 21160693 21283467 na na 160231 copy number gain GRCh38/hg38 10p12.31(chr10:20871764-20994538)x3 -1 - 10 20871764 20994538 na na 160231 copy number gain GRCh38/hg38 10p12.31(chr10:20871764-20994538)x3 -1 - 10 21200699 21323473 na na 162407 copy number loss GRCh38/hg38 10p12.31(chr10:20906254-20910631)x1 -1 - 10 21195183 21199560 na na 162407 copy number loss GRCh38/hg38 10p12.31(chr10:20906254-20910631)x1 -1 - 10 20906254 20910631 na na 162407 copy number loss GRCh38/hg38 10p12.31(chr10:20906254-20910631)x1 -1 - 10 21235189 21239566 na na 174625 single nucleotide variant NM_006393.2(NEBL):c.2417C>T (p.Thr806Ile) 200705273 MedGen:CN169374 10 21101799 21101799 G A 174621 single nucleotide variant NM_006393.2(NEBL):c.*4T>A 727504947 MedGen:CN169374 10 21074672 21074672 A T 174621 single nucleotide variant NM_006393.2(NEBL):c.*4T>A 727504947 MedGen:CN169374 10 20785743 20785743 A T 174622 single nucleotide variant NM_006393.2(NEBL):c.2820C>T (p.His940=) 532565487 MedGen:CN169374 10 21076179 21076179 G A 174622 single nucleotide variant NM_006393.2(NEBL):c.2820C>T (p.His940=) 532565487 MedGen:CN169374 10 20787250 20787250 G A 174623 single nucleotide variant NM_006393.2(NEBL):c.2499G>T (p.Arg833Ser) 727505285 MedGen:CN169374 10 20812788 20812788 C A 174623 single nucleotide variant NM_006393.2(NEBL):c.2499G>T (p.Arg833Ser) 727505285 MedGen:CN169374 10 21101717 21101717 C A 174624 single nucleotide variant NM_006393.2(NEBL):c.2475C>T (p.His825=) 727503334 MedGen:CN169374 10 21101741 21101741 G A 174624 single nucleotide variant NM_006393.2(NEBL):c.2475C>T (p.His825=) 727503334 MedGen:CN169374 10 20812812 20812812 G A 174625 single nucleotide variant NM_006393.2(NEBL):c.2417C>T (p.Thr806Ile) 200705273 MedGen:CN169374 10 20812870 20812870 G A 174626 single nucleotide variant NM_006393.2(NEBL):c.2346+6G>A 201822024 MedGen:CN169374 10 21102862 21102862 C T 174626 single nucleotide variant NM_006393.2(NEBL):c.2346+6G>A 201822024 MedGen:CN169374 10 20813933 20813933 C T 174627 single nucleotide variant NM_006393.2(NEBL):c.2056-13T>G 727504473 MedGen:CN169374 10 20817705 20817705 A C 174627 single nucleotide variant NM_006393.2(NEBL):c.2056-13T>G 727504473 MedGen:CN169374 10 21106634 21106634 A C 174628 single nucleotide variant NM_006393.2(NEBL):c.1963-13C>T 727504904 MedGen:CN169374 10 21108458 21108458 G A 174628 single nucleotide variant NM_006393.2(NEBL):c.1963-13C>T 727504904 MedGen:CN169374 10 20819529 20819529 G A 174629 single nucleotide variant NM_006393.2(NEBL):c.1904C>T (p.Ala635Val) 727503335 MedGen:CN169374 10 21112195 21112195 G A 174629 single nucleotide variant NM_006393.2(NEBL):c.1904C>T (p.Ala635Val) 727503335 MedGen:CN169374 10 20823266 20823266 G A 174630 single nucleotide variant NM_006393.2(NEBL):c.1728T>C (p.Asp576=) 1528182 MedGen:CN169374 10 21117507 21117507 A G 174630 single nucleotide variant NM_006393.2(NEBL):c.1728T>C (p.Asp576=) 1528182 MedGen:CN169374 10 20828578 20828578 A G 174631 single nucleotide variant NM_006393.2(NEBL):c.1496T>G (p.Met499Arg) 727504620 MedGen:CN169374 10 21120466 21120466 A C 174631 single nucleotide variant NM_006393.2(NEBL):c.1496T>G (p.Met499Arg) 727504620 MedGen:CN169374 10 20831537 20831537 A C 174632 single nucleotide variant NM_006393.2(NEBL):c.1272A>G (p.Gly424=) 727504866 MedGen:CN169374 10 21129734 21129734 T C 174632 single nucleotide variant NM_006393.2(NEBL):c.1272A>G (p.Gly424=) 727504866 MedGen:CN169374 10 20840805 20840805 T C 174633 single nucleotide variant NM_006393.2(NEBL):c.1228-7C>T 200231082 MedGen:CN169374 10 21129785 21129785 G A 174633 single nucleotide variant NM_006393.2(NEBL):c.1228-7C>T 200231082 MedGen:CN169374 10 20840856 20840856 G A 174634 single nucleotide variant NM_006393.2(NEBL):c.1008+15G>A 375728589 MedGen:CN169374 10 21141459 21141459 C T 174634 single nucleotide variant NM_006393.2(NEBL):c.1008+15G>A 375728589 MedGen:CN169374 10 20852530 20852530 C T 174635 single nucleotide variant NM_006393.2(NEBL):c.1008+4C>T 71534253 MedGen:CN169374 10 20852541 20852541 G A 174635 single nucleotide variant NM_006393.2(NEBL):c.1008+4C>T 71534253 MedGen:CN169374 10 21141470 21141470 G A 174636 single nucleotide variant NM_006393.2(NEBL):c.682C>G (p.Gln228Glu) 143644290 MedGen:CN169374 10 21157595 21157595 G C 174636 single nucleotide variant NM_006393.2(NEBL):c.682C>G (p.Gln228Glu) 143644290 MedGen:CN169374 10 20868666 20868666 G C 174637 single nucleotide variant NM_006393.2(NEBL):c.624C>T (p.Pro208=) 111854914 MedGen:CN169374 10 21157653 21157653 G A 174637 single nucleotide variant NM_006393.2(NEBL):c.624C>T (p.Pro208=) 111854914 MedGen:CN169374 10 20868724 20868724 G A 174638 single nucleotide variant NM_006393.2(NEBL):c.561G>C (p.Gln187His) 75301590 MedGen:CN169374 10 21158690 21158690 C G 174638 single nucleotide variant NM_006393.2(NEBL):c.561G>C (p.Gln187His) 75301590 MedGen:CN169374 10 20869761 20869761 C G 174639 single nucleotide variant NM_006393.2(NEBL):c.369+5G>A 200249470 MedGen:CN169374 10 21177021 21177021 C T 174639 single nucleotide variant NM_006393.2(NEBL):c.369+5G>A 200249470 MedGen:CN169374 10 20888092 20888092 C T 174640 deletion NM_213569.2(NEBL):c.357+73457delT 71578979 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21177144 21177144 A - 174640 deletion NM_213569.2(NEBL):c.357+73457delT 71578979 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20888215 20888215 A - 174641 single nucleotide variant NM_006393.2(NEBL):c.240C>T (p.Ile80=) 727503337 MedGen:CN169374 10 21178792 21178792 G A 174641 single nucleotide variant NM_006393.2(NEBL):c.240C>T (p.Ile80=) 727503337 MedGen:CN169374 10 20889863 20889863 G A 174642 single nucleotide variant NM_006393.2(NEBL):c.182C>T (p.Ser61Phe) 543765307 MedGen:CN169374 10 21178850 21178850 G A 174642 single nucleotide variant NM_006393.2(NEBL):c.182C>T (p.Ser61Phe) 543765307 MedGen:CN169374 10 20889921 20889921 G A 174643 single nucleotide variant NM_006393.2(NEBL):c.56G>A (p.Gly19Glu) 727503338 MedGen:CN169374 10 21186079 21186079 C T 174643 single nucleotide variant NM_006393.2(NEBL):c.56G>A (p.Gly19Glu) 727503338 MedGen:CN169374 10 20897150 20897150 C T 174644 single nucleotide variant NM_213569.2(NEBL):c.250-10T>G 727503339 MedGen:CN169374 10 21250718 21250718 A C 174644 single nucleotide variant NM_213569.2(NEBL):c.250-10T>G 727503339 MedGen:CN169374 10 20961789 20961789 A C 174645 single nucleotide variant NM_213569.2(NEBL):c.125A>G (p.Asn42Ser) 727503340 MedGen:CN169374 10 21461351 21461351 T C 174645 single nucleotide variant NM_213569.2(NEBL):c.125A>G (p.Asn42Ser) 727503340 MedGen:CN169374 10 21172422 21172422 T C 174646 single nucleotide variant NM_213569.2(NEBL):c.69+15G>T 377648518 MedGen:CN169374 10 21462679 21462679 C A 174646 single nucleotide variant NM_213569.2(NEBL):c.69+15G>T 377648518 MedGen:CN169374 10 21173750 21173750 C A 174857 deletion NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del -1 MedGen:CN169374 10 20840458 20841089 na na 174857 deletion NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del -1 MedGen:CN169374 10 21129387 21130018 na na 174898 single nucleotide variant NM_006393.2(NEBL):c.2913C>T (p.Asp971=) 575423101 MedGen:CN169374 10 21074808 21074808 G A 174898 single nucleotide variant NM_006393.2(NEBL):c.2913C>T (p.Asp971=) 575423101 MedGen:CN169374 10 20785879 20785879 G A 174899 single nucleotide variant NM_006393.2(NEBL):c.2685C>T (p.Asp895=) 140245727 MedGen:CN169374 10 21097515 21097515 G A 174899 single nucleotide variant NM_006393.2(NEBL):c.2685C>T (p.Asp895=) 140245727 MedGen:CN169374 10 20808586 20808586 G A 174900 single nucleotide variant NM_006393.2(NEBL):c.2485G>A (p.Val829Met) 727504979 MedGen:CN169374 10 20812802 20812802 C T 174900 single nucleotide variant NM_006393.2(NEBL):c.2485G>A (p.Val829Met) 727504979 MedGen:CN169374 10 21101731 21101731 C T 174901 single nucleotide variant NM_006393.2(NEBL):c.2445G>A (p.Val815=) 578252294 MedGen:CN169374 10 21101771 21101771 C T 174901 single nucleotide variant NM_006393.2(NEBL):c.2445G>A (p.Val815=) 578252294 MedGen:CN169374 10 20812842 20812842 C T 174902 single nucleotide variant NM_006393.2(NEBL):c.2398G>A (p.Val800Ile) 367986765 MedGen:CN169374 10 21101818 21101818 C T 174902 single nucleotide variant NM_006393.2(NEBL):c.2398G>A (p.Val800Ile) 367986765 MedGen:CN169374 10 20812889 20812889 C T 174903 single nucleotide variant NM_006393.2(NEBL):c.2148+4T>C 193163659 MedGen:CN169374 10 21106525 21106525 A G 174903 single nucleotide variant NM_006393.2(NEBL):c.2148+4T>C 193163659 MedGen:CN169374 10 20817596 20817596 A G 174904 single nucleotide variant NM_006393.2(NEBL):c.1963-3C>T 727504683 MedGen:CN169374 10 21108448 21108448 G A 174904 single nucleotide variant NM_006393.2(NEBL):c.1963-3C>T 727504683 MedGen:CN169374 10 20819519 20819519 G A 174905 single nucleotide variant NM_006393.2(NEBL):c.1954A>C (p.Ile652Leu) 200756166 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:CN169374 10 21112145 21112145 T G 174905 single nucleotide variant NM_006393.2(NEBL):c.1954A>C (p.Ile652Leu) 200756166 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:CN169374 10 20823216 20823216 T G 174906 single nucleotide variant NM_006393.2(NEBL):c.1837C>T (p.Arg613Ter) 146471913 MedGen:CN169374 10 21115408 21115408 G A 174906 single nucleotide variant NM_006393.2(NEBL):c.1837C>T (p.Arg613Ter) 146471913 MedGen:CN169374 10 20826479 20826479 G A 174907 deletion NM_006393.2(NEBL):c.1617delC (p.Ser539Argfs) 727504917 MedGen:CN169374 10 21120179 21120179 G - 174907 deletion NM_006393.2(NEBL):c.1617delC (p.Ser539Argfs) 727504917 MedGen:CN169374 10 20831250 20831250 G - 174908 single nucleotide variant NM_006393.2(NEBL):c.1450-9T>G 45628140 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21120521 21120521 A C 174908 single nucleotide variant NM_006393.2(NEBL):c.1450-9T>G 45628140 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20831592 20831592 A C 174909 single nucleotide variant NM_006393.2(NEBL):c.1269A>G (p.Lys423=) 138932199 MedGen:CN169374 10 21129737 21129737 T C 174909 single nucleotide variant NM_006393.2(NEBL):c.1269A>G (p.Lys423=) 138932199 MedGen:CN169374 10 20840808 20840808 T C 174910 single nucleotide variant NM_006393.2(NEBL):c.1108C>A (p.Gln370Lys) 146198369 MedGen:CN169374 10 21139332 21139332 G T 174910 single nucleotide variant NM_006393.2(NEBL):c.1108C>A (p.Gln370Lys) 146198369 MedGen:CN169374 10 20850403 20850403 G T 174911 single nucleotide variant NM_006393.2(NEBL):c.1008+8C>G 376842299 MedGen:CN169374 10 21141466 21141466 G C 174911 single nucleotide variant NM_006393.2(NEBL):c.1008+8C>G 376842299 MedGen:CN169374 10 20852537 20852537 G C 174912 single nucleotide variant NM_006393.2(NEBL):c.994G>A (p.Val332Ile) 150518045 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:CN169374 10 21141488 21141488 C T 174912 single nucleotide variant NM_006393.2(NEBL):c.994G>A (p.Val332Ile) 150518045 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544;MedGen:CN169374 10 20852559 20852559 C T 174913 single nucleotide variant NM_006393.2(NEBL):c.625G>T (p.Ala209Ser) 142138590 MedGen:CN169374 10 21157652 21157652 C A 174913 single nucleotide variant NM_006393.2(NEBL):c.625G>T (p.Ala209Ser) 142138590 MedGen:CN169374 10 20868723 20868723 C A 174914 single nucleotide variant NM_006393.2(NEBL):c.599G>C (p.Gly200Ala) 727503336 MedGen:CN169374 10 21157678 21157678 C G 174914 single nucleotide variant NM_006393.2(NEBL):c.599G>C (p.Gly200Ala) 727503336 MedGen:CN169374 10 20868749 20868749 C G 174915 single nucleotide variant NM_006393.2(NEBL):c.480+10C>A 377230358 MedGen:CN169374 10 21169713 21169713 G T 174915 single nucleotide variant NM_006393.2(NEBL):c.480+10C>A 377230358 MedGen:CN169374 10 20880784 20880784 G T 174916 single nucleotide variant NM_006393.2(NEBL):c.267C>G (p.Tyr89Ter) 147622517 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658;MedGen:CN169374 10 21177128 21177128 G C 174916 single nucleotide variant NM_006393.2(NEBL):c.267C>G (p.Tyr89Ter) 147622517 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658;MedGen:CN169374 10 20888199 20888199 G C 174917 single nucleotide variant NM_006393.2(NEBL):c.255T>C (p.Ser85=) 727504471 MedGen:CN169374 10 21178777 21178777 A G 174917 single nucleotide variant NM_006393.2(NEBL):c.255T>C (p.Ser85=) 727504471 MedGen:CN169374 10 20889848 20889848 A G 174918 single nucleotide variant NM_006393.2(NEBL):c.191A>G (p.Lys64Arg) 71578975 MedGen:CN169374 10 20889912 20889912 T C 174918 single nucleotide variant NM_006393.2(NEBL):c.191A>G (p.Lys64Arg) 71578975 MedGen:CN169374 10 21178841 21178841 T C 174919 single nucleotide variant NM_006393.2(NEBL):c.82-4A>G 368268112 MedGen:CN169374 10 21185962 21185962 T C 174919 single nucleotide variant NM_006393.2(NEBL):c.82-4A>G 368268112 MedGen:CN169374 10 20897033 20897033 T C 174920 single nucleotide variant NM_213569.2(NEBL):c.357T>C (p.Asn119=) 115708584 MedGen:CN169374 10 20961672 20961672 A G 174920 single nucleotide variant NM_213569.2(NEBL):c.357T>C (p.Asn119=) 115708584 MedGen:CN169374 10 21250601 21250601 A G 174921 single nucleotide variant NM_213569.2(NEBL):c.165-6C>G 201869237 MedGen:CN169374 10 21020207 21020207 G C 174921 single nucleotide variant NM_213569.2(NEBL):c.165-6C>G 201869237 MedGen:CN169374 10 21309136 21309136 G C 174922 duplication NM_213569.2(NEBL):c.70-5dupT 11413698 MedGen:CN169374 10 21461411 21461411 A AA 174922 duplication NM_213569.2(NEBL):c.70-5dupT 11413698 MedGen:CN169374 10 21172482 21172482 A AA 174923 single nucleotide variant NM_213569.2(NEBL):c.65A>T (p.Asp22Val) 727503341 MedGen:CN169374 10 21462698 21462698 T A 174923 single nucleotide variant NM_213569.2(NEBL):c.65A>T (p.Asp22Val) 727503341 MedGen:CN169374 10 21173769 21173769 T A 178615 single nucleotide variant NM_006393.2(NEBL):c.503A>T (p.Gln168Leu) 730880171 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544 10 21158748 21158748 T A 178615 single nucleotide variant NM_006393.2(NEBL):c.503A>T (p.Gln168Leu) 730880171 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544 10 20869819 20869819 T A 178616 single nucleotide variant NM_213569.2(NEBL):c.305C>T (p.Thr102Met) 377492976 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 10 21250653 21250653 G A 178616 single nucleotide variant NM_213569.2(NEBL):c.305C>T (p.Thr102Met) 377492976 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 10 20961724 20961724 G A 198241 single nucleotide variant NM_006393.2(NEBL):c.2644C>T (p.Arg882Ter) 151012132 MedGen:CN169374 10 21097556 21097556 G A 198241 single nucleotide variant NM_006393.2(NEBL):c.2644C>T (p.Arg882Ter) 151012132 MedGen:CN169374 10 20808627 20808627 G A 198242 single nucleotide variant NM_006393.2(NEBL):c.2307T>C (p.Ala769=) 144815863 MedGen:CN169374 10 21102907 21102907 A G 198242 single nucleotide variant NM_006393.2(NEBL):c.2307T>C (p.Ala769=) 144815863 MedGen:CN169374 10 20813978 20813978 A G 198243 single nucleotide variant NM_006393.2(NEBL):c.2271G>A (p.Met757Ile) 794729079 MedGen:CN169374 10 21102943 21102943 C T 198243 single nucleotide variant NM_006393.2(NEBL):c.2271G>A (p.Met757Ile) 794729079 MedGen:CN169374 10 20814014 20814014 C T 198244 single nucleotide variant NM_006393.2(NEBL):c.2101C>A (p.Pro701Thr) 371551337 MedGen:CN169374 10 21106576 21106576 G T 198244 single nucleotide variant NM_006393.2(NEBL):c.2101C>A (p.Pro701Thr) 371551337 MedGen:CN169374 10 20817647 20817647 G T 198245 single nucleotide variant NM_006393.2(NEBL):c.1838G>A (p.Arg613Gln) 151035799 MedGen:CN169374 10 21115407 21115407 C T 198245 single nucleotide variant NM_006393.2(NEBL):c.1838G>A (p.Arg613Gln) 151035799 MedGen:CN169374 10 20826478 20826478 C T 198246 single nucleotide variant NM_006393.2(NEBL):c.1639C>T (p.Arg547Ter) 149647815 MedGen:CN169374 10 20831228 20831228 G A 198246 single nucleotide variant NM_006393.2(NEBL):c.1639C>T (p.Arg547Ter) 149647815 MedGen:CN169374 10 21120157 21120157 G A 198247 single nucleotide variant NM_006393.2(NEBL):c.1608G>T (p.Met536Ile) 794729078 MedGen:CN169374 10 21120188 21120188 C A 198247 single nucleotide variant NM_006393.2(NEBL):c.1608G>T (p.Met536Ile) 794729078 MedGen:CN169374 10 20831259 20831259 C A 198248 single nucleotide variant NM_006393.2(NEBL):c.1540G>T (p.Ala514Ser) 781572930 MedGen:CN169374 10 20831493 20831493 C A 198248 single nucleotide variant NM_006393.2(NEBL):c.1540G>T (p.Ala514Ser) 781572930 MedGen:CN169374 10 21120422 21120422 C A 198249 single nucleotide variant NM_006393.2(NEBL):c.1316G>A (p.Arg439Gln) 755916272 MedGen:CN169374 10 20840761 20840761 C T 198249 single nucleotide variant NM_006393.2(NEBL):c.1316G>A (p.Arg439Gln) 755916272 MedGen:CN169374 10 21129690 21129690 C T 198250 single nucleotide variant NM_006393.2(NEBL):c.1225G>A (p.Glu409Lys) 767565380 MedGen:CN169374 10 20845260 20845260 C T 198250 single nucleotide variant NM_006393.2(NEBL):c.1225G>A (p.Glu409Lys) 767565380 MedGen:CN169374 10 21134189 21134189 C T 198251 single nucleotide variant NM_006393.2(NEBL):c.614A>G (p.Asn205Ser) 794729077 MedGen:CN169374 10 20868734 20868734 T C 198251 single nucleotide variant NM_006393.2(NEBL):c.614A>G (p.Asn205Ser) 794729077 MedGen:CN169374 10 21157663 21157663 T C 198252 single nucleotide variant NM_006393.2(NEBL):c.326T>C (p.Ile109Thr) 371620771 MedGen:CN169374 10 20888140 20888140 A G 198252 single nucleotide variant NM_006393.2(NEBL):c.326T>C (p.Ile109Thr) 371620771 MedGen:CN169374 10 21177069 21177069 A G 198255 deletion NM_006393.2(NEBL):c.75_77delAGA (p.Glu25del) 794729080 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544 10 21186058 21186060 TCT - 198255 deletion NM_006393.2(NEBL):c.75_77delAGA (p.Glu25del) 794729080 MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:C0878544 10 20897129 20897131 TCT - 221942 single nucleotide variant NM_006393.2(NEBL):c.1978C>A (p.Gln660Lys) 11012351 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21108430 21108430 G T 221942 single nucleotide variant NM_006393.2(NEBL):c.1978C>A (p.Gln660Lys) 11012351 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20819501 20819501 G T 224388 single nucleotide variant NM_006393.2(NEBL):c.2616G>T (p.Lys872Asn) 869025491 EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED CT:C0085298 10 21097584 21097584 C A 224388 single nucleotide variant NM_006393.2(NEBL):c.2616G>T (p.Lys872Asn) 869025491 EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED CT:C0085298 10 20808655 20808655 C A 224389 single nucleotide variant NM_006393.2(NEBL):c.1255G>T (p.Glu419Ter) 201103536 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 10 21129751 21129751 C A 224389 single nucleotide variant NM_006393.2(NEBL):c.1255G>T (p.Glu419Ter) 201103536 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 10 20840822 20840822 C A 224390 single nucleotide variant NM_006393.2(NEBL):c.658G>A (p.Val220Met) 571563897 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21157619 21157619 C T 224390 single nucleotide variant NM_006393.2(NEBL):c.658G>A (p.Val220Met) 571563897 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20868690 20868690 C T 229747 single nucleotide variant NM_006393.2(NEBL):c.2775C>T (p.Pro925=) 199887353 MedGen:CN169374 10 20787295 20787295 G A 229747 single nucleotide variant NM_006393.2(NEBL):c.2775C>T (p.Pro925=) 199887353 MedGen:CN169374 10 21076224 21076224 G A 229748 single nucleotide variant NM_006393.2(NEBL):c.2748G>T (p.Pro916=) 778128527 MedGen:CN169374 10 20808523 20808523 C A 229748 single nucleotide variant NM_006393.2(NEBL):c.2748G>T (p.Pro916=) 778128527 MedGen:CN169374 10 21097452 21097452 C A 229749 single nucleotide variant NM_006393.2(NEBL):c.2588C>G (p.Ser863Cys) 150152361 MedGen:CN169374 10 21098758 21098758 G C 229749 single nucleotide variant NM_006393.2(NEBL):c.2588C>G (p.Ser863Cys) 150152361 MedGen:CN169374 10 20809829 20809829 G C 229750 single nucleotide variant NM_006393.2(NEBL):c.2681G>A (p.Gly894Glu) 876657926 MedGen:CN169374 10 20808590 20808590 C T 229750 single nucleotide variant NM_006393.2(NEBL):c.2681G>A (p.Gly894Glu) 876657926 MedGen:CN169374 10 21097519 21097519 C T 229751 single nucleotide variant NM_006393.2(NEBL):c.2547C>T (p.Gly849=) 180850975 MedGen:CN169374 10 20809870 20809870 G A 229751 single nucleotide variant NM_006393.2(NEBL):c.2547C>T (p.Gly849=) 180850975 MedGen:CN169374 10 21098799 21098799 G A 229752 single nucleotide variant NM_006393.2(NEBL):c.2329C>T (p.Gln777Ter) 752922937 MedGen:CN169374 10 20813956 20813956 G A 229752 single nucleotide variant NM_006393.2(NEBL):c.2329C>T (p.Gln777Ter) 752922937 MedGen:CN169374 10 21102885 21102885 G A 229753 single nucleotide variant NM_006393.2(NEBL):c.2055+7C>A 368793318 MedGen:CN169374 10 20819417 20819417 G T 229753 single nucleotide variant NM_006393.2(NEBL):c.2055+7C>A 368793318 MedGen:CN169374 10 21108346 21108346 G T 229754 single nucleotide variant NM_006393.2(NEBL):c.2054C>T (p.Ala685Val) 146218038 MedGen:CN169374 10 20819425 20819425 G A 229754 single nucleotide variant NM_006393.2(NEBL):c.2054C>T (p.Ala685Val) 146218038 MedGen:CN169374 10 21108354 21108354 G A 229755 single nucleotide variant NM_006393.2(NEBL):c.1028A>G (p.Tyr343Cys) 876657925 MedGen:CN169374 10 20850483 20850483 T C 229755 single nucleotide variant NM_006393.2(NEBL):c.1028A>G (p.Tyr343Cys) 876657925 MedGen:CN169374 10 21139412 21139412 T C 229756 single nucleotide variant NM_006393.2(NEBL):c.989A>G (p.Asn330Ser) 876657927 MedGen:CN169374 10 20852564 20852564 T C 229756 single nucleotide variant NM_006393.2(NEBL):c.989A>G (p.Asn330Ser) 876657927 MedGen:CN169374 10 21141493 21141493 T C 229757 single nucleotide variant NM_006393.2(NEBL):c.903+1G>T 775057540 MedGen:CN169374 10 21147168 21147168 C A 229757 single nucleotide variant NM_006393.2(NEBL):c.903+1G>T 775057540 MedGen:CN169374 10 20858239 20858239 C A 229758 single nucleotide variant NM_006393.2(NEBL):c.489T>C (p.Tyr163=) 141153708 MedGen:CN169374 10 20869833 20869833 A G 229758 single nucleotide variant NM_006393.2(NEBL):c.489T>C (p.Tyr163=) 141153708 MedGen:CN169374 10 21158762 21158762 A G 229759 single nucleotide variant NM_006393.2(NEBL):c.480+11G>A 769167750 MedGen:CN169374 10 20880783 20880783 C T 229759 single nucleotide variant NM_006393.2(NEBL):c.480+11G>A 769167750 MedGen:CN169374 10 21169712 21169712 C T 229760 single nucleotide variant NM_006393.2(NEBL):c.383A>T (p.Gln128Leu) 139809958 MedGen:CN169374 10 21169820 21169820 T A 229760 single nucleotide variant NM_006393.2(NEBL):c.383A>T (p.Gln128Leu) 139809958 MedGen:CN169374 10 20880891 20880891 T A 229761 single nucleotide variant NM_006393.2(NEBL):c.258+1G>A 139581346 MedGen:CN169374 10 20889844 20889844 C T 229761 single nucleotide variant NM_006393.2(NEBL):c.258+1G>A 139581346 MedGen:CN169374 10 21178773 21178773 C T 229762 single nucleotide variant NM_006393.2(NEBL):c.205A>G (p.Thr69Ala) 780384504 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 20889898 20889898 T C 229762 single nucleotide variant NM_006393.2(NEBL):c.205A>G (p.Thr69Ala) 780384504 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193;MedGen:CN169374 10 21178827 21178827 T C 229763 deletion NM_006393.2(NEBL):c.109_110delTT (p.Leu37Lysfs) 762005342 MedGen:CN169374 10 20897001 20897002 AA - 229763 deletion NM_006393.2(NEBL):c.109_110delTT (p.Leu37Lysfs) 762005342 MedGen:CN169374 10 21185930 21185931 AA - 229764 single nucleotide variant NM_213569.2(NEBL):c.204A>T (p.Thr68=) 563150056 MedGen:CN169374 10 21020162 21020162 T A 229764 single nucleotide variant NM_213569.2(NEBL):c.204A>T (p.Thr68=) 563150056 MedGen:CN169374 10 21309091 21309091 T A 236777 single nucleotide variant NM_006393.2(NEBL):c.2260C>G (p.His754Asp) 876661379 MedGen:CN169374 10 21102954 21102954 G C 236777 single nucleotide variant NM_006393.2(NEBL):c.2260C>G (p.His754Asp) 876661379 MedGen:CN169374 10 20814025 20814025 G C 240759 single nucleotide variant NM_006393.2(NEBL):c.2959A>G (p.Ile987Val) 746298728 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20785833 20785833 T C 240759 single nucleotide variant NM_006393.2(NEBL):c.2959A>G (p.Ile987Val) 746298728 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21074762 21074762 T C 240760 single nucleotide variant NM_006393.2(NEBL):c.2757A>G (p.Glu919=) 878854903 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20808514 20808514 T C 240760 single nucleotide variant NM_006393.2(NEBL):c.2757A>G (p.Glu919=) 878854903 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21097443 21097443 T C 240761 single nucleotide variant NM_006393.2(NEBL):c.2724A>T (p.Ser908=) 146673676 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20808547 20808547 T A 240761 single nucleotide variant NM_006393.2(NEBL):c.2724A>T (p.Ser908=) 146673676 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21097476 21097476 T A 240762 single nucleotide variant NM_006393.2(NEBL):c.1546G>A (p.Glu516Lys) 45461595 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20831487 20831487 C T 240762 single nucleotide variant NM_006393.2(NEBL):c.1546G>A (p.Glu516Lys) 45461595 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21120416 21120416 C T 240763 inversion NM_006393.2(NEBL):c.1008+4_1008+5invCA -1 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21141469 21141470 TG CA 240763 inversion NM_006393.2(NEBL):c.1008+4_1008+5invCA -1 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20852540 20852541 TG CA 240764 single nucleotide variant NM_006393.2(NEBL):c.496G>C (p.Asp166His) 780036701 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21158755 21158755 C G 240764 single nucleotide variant NM_006393.2(NEBL):c.496G>C (p.Asp166His) 780036701 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20869826 20869826 C G 240765 single nucleotide variant NM_006393.2(NEBL):c.214C>A (p.Pro72Thr) 150000482 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21178818 21178818 G T 240765 single nucleotide variant NM_006393.2(NEBL):c.214C>A (p.Pro72Thr) 150000482 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20889889 20889889 G T 240766 single nucleotide variant NM_006393.2(NEBL):c.103G>A (p.Glu35Lys) 878854902 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20897008 20897008 C T 240766 single nucleotide variant NM_006393.2(NEBL):c.103G>A (p.Glu35Lys) 878854902 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21185937 21185937 C T 240767 single nucleotide variant NM_006393.2(NEBL):c.27A>C (p.Ile9=) 536400111 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 20897179 20897179 T G 240767 single nucleotide variant NM_006393.2(NEBL):c.27A>C (p.Ile9=) 536400111 MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 10 21186108 21186108 T G 359955 single nucleotide variant NM_006393.2(NEBL):c.2761G>C (p.Ala921Pro) 1057518516 MedGen:CN169374 10 20808510 20808510 C G 359955 single nucleotide variant NM_006393.2(NEBL):c.2761G>C (p.Ala921Pro) 1057518516 MedGen:CN169374 10 21097439 21097439 C G 359956 single nucleotide variant NM_006393.2(NEBL):c.2718C>A (p.Ser906Arg) 768402237 MedGen:CN169374 10 20808553 20808553 G T 359956 single nucleotide variant NM_006393.2(NEBL):c.2718C>A (p.Ser906Arg) 768402237 MedGen:CN169374 10 21097482 21097482 G T 359958 single nucleotide variant NM_006393.2(NEBL):c.625G>A (p.Ala209Thr) 142138590 MedGen:CN169374 10 20868723 20868723 C T 359958 single nucleotide variant NM_006393.2(NEBL):c.625G>A (p.Ala209Thr) 142138590 MedGen:CN169374 10 21157652 21157652 C T

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 10 21263447 rs11012433 G A rs11012433 3.56E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 G intron GWASdb_drug 10 21276652 rs11012463 A G rs11012463 1.90E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_drug 10 21302821 rs597837 A C rs597837 2.14E-05 CAFFEINE CYTOCHROME P-450 CYP1A2|RECEPTORS, ARYL HYDROCARBON Caffeine consumption HPOID:0000707 NA A intron GWASdb_drug 10 21356592 rs9665295 C A rs9665295 4.89E-05 HYDROCHLOROTHIAZIDE|CANDESARTAN EPITHELIAL SODIUM CHANNELS|DIURETICS|ANGIOTENSIN II TYPE 1 RECEPTOR BLOCKERS|BENZIMIDAZOLES|GPR83 PROTEIN, HUMAN|TETRAZOLES|RECEPTORS, G-PROTEIN-COUPLED|SCNN1G PROTEIN, HUMAN Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy) HPOID:0000847 DOID:10763 A intron GWASdb_drug 10 21366778 rs9633625 C T rs9633625 7.30E-04 ATORVASTATIN SERINE ENDOPEPTIDASES|PYRROLES|PCSK9 PROTEIN, HUMAN|HEPTANOIC ACIDS|APOLIPOPROTEINS E|PROPROTEIN CONVERTASES Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 T intron GWASdb_drug 10 21461860 rs10828201 C T rs10828201 1.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_drug 10 21081843 rs3781490 G A rs3781490 7.02E-04 Multiple complex diseases HPOID:0000118 NA C,T intron GWASdb_trait 10 21136444 rs16921139 G A rs16921139 6.97E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 10 21140255 rs703088 A C rs703088 9.01E-06 Major depression (suicidal thoughts and behavior) HPOID:0000716 DOID:1470 A intron GWASdb_trait 10 21152030 rs788994 G A rs788994 8.24E-05 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 G intron GWASdb_trait 10 21160952 rs697160 C T rs697160 9.15E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 10 21174672 rs3791202 T G rs3791202 3.52E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 21185661 rs788970 G A rs788970 7.58E-05 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 G intron GWASdb_trait 10 21205008 rs10159961 A C rs10159961 7.97E-05 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 C intron GWASdb_trait 10 21210283 rs12356048 G A rs12356048 3.14E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 10 21210538 rs4748734 G T rs4748734 9.89E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 10 21218979 rs4748737 C T rs4748737 4.69E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 10 21219406 rs4748738 T C rs4748738 1.72E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 10 21219902 rs12770568 C T rs12770568 7.75E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C,T intron GWASdb_trait 10 21219928 rs10828155 G A rs10828155 1.74E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 10 21219958 rs10828156 G A rs10828156 1.76E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 10 21220491 rs4748739 T G rs4748739 1.81E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 10 21224046 rs10828157 T C rs10828157 6.24E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 T intron GWASdb_trait 10 21240343 rs6415963 T C rs6415963 4.69E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 21263447 rs11012433 G A rs11012433 3.56E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 G intron GWASdb_trait 10 21267842 rs11012443 T C rs11012443 2.48E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 21276652 rs11012463 A G rs11012463 8.51E-05 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 10 21276652 rs11012463 A G rs11012463 1.90E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_trait 10 21295815 rs16921408 G A rs16921408 4.82E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 10 21302821 rs597837 A C rs597837 2.14E-05 Caffeine consumption HPOID:0000707 NA A intron GWASdb_trait 10 21323423 rs604251 A G rs604251 3.72E-05 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 10 21323423 rs604251 A G rs604251 5.30E-04 Smoking initiation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 10 21326720 rs649734 G A rs649734 2.97E-05 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 21329425 rs641632 A C rs641632 3.16E-05 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 10 21336002 rs631361 C T rs631361 2.06E-05 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 10 21337438 rs611992 T G rs611992 2.16E-05 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 21337438 rs611992 T G rs611992 2.78E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 10 21341618 rs491386 A G rs491386 4.04E-05 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 21341618 rs491386 A G rs491386 1.87E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 10 21344773 rs2119242 G A rs2119242 3.83E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 10 21349368 rs893881 A G rs893881 1.52E-05 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 10 21353120 rs11599453 C A rs11599453 1.67E-04 Vaspin levels HPOID:0001513|HPOID:0000855|HPOID:0005978 DOID:9970|DOID:9352 C intron GWASdb_trait 10 21353120 rs11599453 C A rs11599453 0.0001671 Treatment outcomes for selective serotonin reuptake inhibitors (SSRIs) - response at 8 weeks HPOID:0000716 DOID:1470 C intron GWASdb_trait 10 21353120 rs11599453 C A rs11599453 0.0001866 Treatment outcomes for selective serotonin reuptake inhibitors (SSRIs) - response at last visit HPOID:0000716 DOID:1470 C intron GWASdb_trait 10 21356592 rs9665295 C A rs9665295 4.89E-05 Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy) HPOID:0000847 DOID:10763 A intron GWASdb_trait 10 21363030 rs7088409 T C rs7088409 1.58E-05 Multiple complex diseases HPOID:0000118 NA C,T intron GWASdb_trait 10 21366778 rs9633625 C T rs9633625 7.30E-04 Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 T intron GWASdb_trait 10 21368072 rs11817725 G T rs11817725 7.61E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 10 21368072 rs11817725 G T rs11817725 1.42E-05 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 21368442 rs11012514 A T rs11012514 1.77E-05 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 21369034 rs11012515 C T rs11012515 5.45E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 10 21369034 rs11012515 C T rs11012515 2.55E-05 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 10 21370420 rs7097035 T C rs7097035 9.10E-06 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 21377768 rs1870706 G T rs1870706 1.73E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 10 21377866 rs605715 C T rs605715 9.10E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 21390313 rs10828188 C A rs10828188 4.12E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 10 21436222 rs12243039 C A rs12243039 6.00E-06 Response to radiotherapy in cancer (late toxicity) HPOID:0002664 DOID:162 C intron GWASdb_trait 10 21436222 rs12243039 C A rs12243039 8.00E-06 Response to radiotherapy in cancer (late toxicity) HPOID:0002664 DOID:162 C intron GWASdb_trait 10 21444603 rs1751915 G A rs1751915 2.90E-05 Vaspin levels HPOID:0001513|HPOID:0000855|HPOID:0005978 DOID:9970|DOID:9352 C intron GWASdb_trait 10 21444603 rs1751915 G A rs1751915 0.000029 Treatment outcomes for selective serotonin reuptake inhibitors (SSRIs) - response at last visit HPOID:0000716 DOID:1470 C intron GWASdb_trait 10 21446033 rs11012548 G T rs11012548 5.18E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 10 21449777 rs11599589 A G rs11599589 1.62E-04 Vaspin levels HPOID:0001513|HPOID:0000855|HPOID:0005978 DOID:9970|DOID:9352 A intron GWASdb_trait 10 21449777 rs11599589 A G rs11599589 0.0001624 Treatment outcomes for selective serotonin reuptake inhibitors (SSRIs) - response at last visit HPOID:0000716 DOID:1470 A intron GWASdb_trait 10 21461860 rs10828201 C T rs10828201 1.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000078114.18 NEBL 605491