Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 40073 single nucleotide variant NM_015175.2(NBEAL2):c.2701C>T (p.Arg901Ter) 387907112 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47038800 47038800 C T 40073 single nucleotide variant NM_015175.2(NBEAL2):c.2701C>T (p.Arg901Ter) 387907112 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46997310 46997310 C T 40074 single nucleotide variant NM_015175.2(NBEAL2):c.881C>G (p.Ser294Ter) 372277612 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47033134 47033134 C G 40074 single nucleotide variant NM_015175.2(NBEAL2):c.881C>G (p.Ser294Ter) 372277612 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46991644 46991644 C G 40075 single nucleotide variant NM_015175.2(NBEAL2):c.1163T>C (p.Leu388Pro) 387907113 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47035476 47035476 T C 40075 single nucleotide variant NM_015175.2(NBEAL2):c.1163T>C (p.Leu388Pro) 387907113 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46993986 46993986 T C 40076 single nucleotide variant NM_015175.2(NBEAL2):c.1928A>T (p.Glu643Val) 387907114 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47037233 47037233 A T 40076 single nucleotide variant NM_015175.2(NBEAL2):c.1928A>T (p.Glu643Val) 387907114 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995743 46995743 A T 40077 single nucleotide variant NM_015175.2(NBEAL2):c.6299C>T (p.Pro2100Leu) 387907115 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47046466 47046466 C T 40077 single nucleotide variant NM_015175.2(NBEAL2):c.6299C>T (p.Pro2100Leu) 387907115 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47004976 47004976 C T 40078 single nucleotide variant NM_015175.2(NBEAL2):c.1823G>A (p.Trp608Ter) 794726682 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995558 46995558 G A 40078 single nucleotide variant NM_015175.2(NBEAL2):c.1823G>A (p.Trp608Ter) 794726682 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47037048 47037048 G A 40079 duplication NM_015175.2(NBEAL2):c.5413dupG (p.Ala1805Glyfs) 794726683 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47044246 47044246 G GG 40079 duplication NM_015175.2(NBEAL2):c.5413dupG (p.Ala1805Glyfs) 794726683 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47002756 47002756 G GG 251172 single nucleotide variant NM_015175.2(NBEAL2):c.1033-28C>T 13066214 MedGen:CN169374 3 47033937 47033937 C T 251172 single nucleotide variant NM_015175.2(NBEAL2):c.1033-28C>T 13066214 MedGen:CN169374 3 46992447 46992447 C T 251173 single nucleotide variant NM_015175.2(NBEAL2):c.1198-45C>T 749512 MedGen:CN169374 3 47035900 47035900 C T 251173 single nucleotide variant NM_015175.2(NBEAL2):c.1198-45C>T 749512 MedGen:CN169374 3 46994410 46994410 C T 251174 single nucleotide variant NM_015175.2(NBEAL2):c.1340G>A (p.Arg447His) 17079425 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47036565 47036565 G A 251174 single nucleotide variant NM_015175.2(NBEAL2):c.1340G>A (p.Arg447His) 17079425 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 46995075 46995075 G A 251175 single nucleotide variant NM_015175.2(NBEAL2):c.1353G>A (p.Pro451=) 115611407 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47036578 47036578 G A 251175 single nucleotide variant NM_015175.2(NBEAL2):c.1353G>A (p.Pro451=) 115611407 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 46995088 46995088 G A 251176 single nucleotide variant NM_015175.2(NBEAL2):c.1531C>G (p.Arg511Gly) 11720139 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47036756 47036756 C G 251176 single nucleotide variant NM_015175.2(NBEAL2):c.1531C>G (p.Arg511Gly) 11720139 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 46995266 46995266 C G 251177 single nucleotide variant NM_015175.2(NBEAL2):c.4704C>T (p.Asn1568=) 12489851 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47001748 47001748 C T 251177 single nucleotide variant NM_015175.2(NBEAL2):c.4704C>T (p.Asn1568=) 12489851 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47043238 47043238 C T 251178 single nucleotide variant NM_015175.2(NBEAL2):c.4783-24C>T 73075647 MedGen:CN169374 3 47001896 47001896 C T 251178 single nucleotide variant NM_015175.2(NBEAL2):c.4783-24C>T 73075647 MedGen:CN169374 3 47043386 47043386 C T 251179 single nucleotide variant NM_015175.2(NBEAL2):c.4911C>T (p.Ser1637=) 2305634 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47002048 47002048 C T 251179 single nucleotide variant NM_015175.2(NBEAL2):c.4911C>T (p.Ser1637=) 2305634 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47043538 47043538 C T 251180 single nucleotide variant NM_015175.2(NBEAL2):c.4995G>A (p.Val1665=) 2305635 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47002132 47002132 G A 251180 single nucleotide variant NM_015175.2(NBEAL2):c.4995G>A (p.Val1665=) 2305635 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47043622 47043622 G A 251181 single nucleotide variant NM_015175.2(NBEAL2):c.5302-13A>T 11928558 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47044122 47044122 A T 251181 single nucleotide variant NM_015175.2(NBEAL2):c.5302-13A>T 11928558 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47002632 47002632 A T 251182 single nucleotide variant NM_015175.2(NBEAL2):c.5661A>C (p.Pro1887=) 140548682 MedGen:CN169374 3 47044740 47044740 A C 251182 single nucleotide variant NM_015175.2(NBEAL2):c.5661A>C (p.Pro1887=) 140548682 MedGen:CN169374 3 47003250 47003250 A C 251183 single nucleotide variant NM_015175.2(NBEAL2):c.6054C>G (p.Pro2018=) 1079276 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47004249 47004249 C G 251183 single nucleotide variant NM_015175.2(NBEAL2):c.6054C>G (p.Pro2018=) 1079276 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47045739 47045739 C G 251184 single nucleotide variant NM_015175.2(NBEAL2):c.6161C>T (p.Ser2054Phe) 2305637 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47045846 47045846 C T 251184 single nucleotide variant NM_015175.2(NBEAL2):c.6161C>T (p.Ser2054Phe) 2305637 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47004356 47004356 C T 251185 single nucleotide variant NM_015175.2(NBEAL2):c.6560+31G>C 2305638 MedGen:CN169374 3 47046842 47046842 G C 251185 single nucleotide variant NM_015175.2(NBEAL2):c.6560+31G>C 2305638 MedGen:CN169374 3 47005352 47005352 G C 251186 duplication NM_015175.2(NBEAL2):c.6692-47dupG 750620854 MedGen:CN169374 3 47047181 47047181 G GG 251186 duplication NM_015175.2(NBEAL2):c.6692-47dupG 750620854 MedGen:CN169374 3 47005691 47005691 G GG 251187 single nucleotide variant NM_015175.2(NBEAL2):c.6801+21A>C 13081418 MedGen:CN169374 3 47005868 47005868 A C 251187 single nucleotide variant NM_015175.2(NBEAL2):c.6801+21A>C 13081418 MedGen:CN169374 3 47047358 47047358 A C 251188 single nucleotide variant NM_015175.2(NBEAL2):c.6919+9T>C 3816531 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47006072 47006072 T C 251188 single nucleotide variant NM_015175.2(NBEAL2):c.6919+9T>C 3816531 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47047562 47047562 T C 251189 single nucleotide variant NM_015175.2(NBEAL2):c.7507+6A>G 74418680 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47049193 47049193 A G 251189 single nucleotide variant NM_015175.2(NBEAL2):c.7507+6A>G 74418680 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302;MedGen:CN169374 3 47007703 47007703 A G 264170 single nucleotide variant NM_015175.2(NBEAL2):c.3592C>T (p.Gln1198Ter) 886041677 MedGen:CN221809 3 47040853 47040853 C T 264170 single nucleotide variant NM_015175.2(NBEAL2):c.3592C>T (p.Gln1198Ter) 886041677 MedGen:CN221809 3 46999363 46999363 C T 271697 single nucleotide variant NM_015175.2(NBEAL2):c.7658G>A (p.Gly2553Glu) 144664865 MedGen:CN169374 3 47049615 47049615 G A 271697 single nucleotide variant NM_015175.2(NBEAL2):c.7658G>A (p.Gly2553Glu) 144664865 MedGen:CN169374 3 47008125 47008125 G A 271699 single nucleotide variant NM_015175.2(NBEAL2):c.7442A>G (p.Asp2481Gly) 886043642 MedGen:CN169374 3 47049122 47049122 A G 271699 single nucleotide variant NM_015175.2(NBEAL2):c.7442A>G (p.Asp2481Gly) 886043642 MedGen:CN169374 3 47007632 47007632 A G 290778 single nucleotide variant NM_015175.2(NBEAL2):c.123C>G (p.Ser41=) 61734084 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46988740 46988740 C G 290778 single nucleotide variant NM_015175.2(NBEAL2):c.123C>G (p.Ser41=) 61734084 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47030230 47030230 C G 290787 single nucleotide variant NM_015175.2(NBEAL2):c.384C>G (p.Gly128=) 113523265 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46989292 46989292 C G 290787 single nucleotide variant NM_015175.2(NBEAL2):c.384C>G (p.Gly128=) 113523265 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47030782 47030782 C G 290792 single nucleotide variant NM_015175.2(NBEAL2):c.1212G>A (p.Glu404=) 769130047 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46994469 46994469 G A 290792 single nucleotide variant NM_015175.2(NBEAL2):c.1212G>A (p.Glu404=) 769130047 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47035959 47035959 G A 290794 single nucleotide variant NM_015175.2(NBEAL2):c.2375G>A (p.Arg792Gln) 140354422 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46996494 46996494 G A 290794 single nucleotide variant NM_015175.2(NBEAL2):c.2375G>A (p.Arg792Gln) 140354422 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47037984 47037984 G A 290798 single nucleotide variant NM_015175.2(NBEAL2):c.2445G>A (p.Ala815=) 116456978 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47038054 47038054 G A 290798 single nucleotide variant NM_015175.2(NBEAL2):c.2445G>A (p.Ala815=) 116456978 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46996564 46996564 G A 290799 single nucleotide variant NM_015175.2(NBEAL2):c.3108C>T (p.Ala1036=) 886058596 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47039706 47039706 C T 290799 single nucleotide variant NM_015175.2(NBEAL2):c.3108C>T (p.Ala1036=) 886058596 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46998216 46998216 C T 290801 single nucleotide variant NM_015175.2(NBEAL2):c.3414C>T (p.Ala1138=) 886058597 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46998988 46998988 C T 290801 single nucleotide variant NM_015175.2(NBEAL2):c.3414C>T (p.Ala1138=) 886058597 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47040478 47040478 C T 290803 single nucleotide variant NM_015175.2(NBEAL2):c.3728T>C (p.Leu1243Pro) 753466927 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46999654 46999654 T C 290803 single nucleotide variant NM_015175.2(NBEAL2):c.3728T>C (p.Leu1243Pro) 753466927 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47041144 47041144 T C 290812 single nucleotide variant NM_015175.2(NBEAL2):c.4121G>A (p.Gly1374Asp) 886058598 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47000220 47000220 G A 290812 single nucleotide variant NM_015175.2(NBEAL2):c.4121G>A (p.Gly1374Asp) 886058598 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47041710 47041710 G A 290813 single nucleotide variant NM_015175.2(NBEAL2):c.4123G>A (p.Gly1375Ser) 771754714 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47000222 47000222 G A 290813 single nucleotide variant NM_015175.2(NBEAL2):c.4123G>A (p.Gly1375Ser) 771754714 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47041712 47041712 G A 290814 single nucleotide variant NM_015175.2(NBEAL2):c.4306-15C>G 886058599 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47000986 47000986 C G 290814 single nucleotide variant NM_015175.2(NBEAL2):c.4306-15C>G 886058599 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47042476 47042476 C G 290815 single nucleotide variant NM_015175.2(NBEAL2):c.4978C>T (p.Arg1660Cys) 142355538 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47002115 47002115 C T 290815 single nucleotide variant NM_015175.2(NBEAL2):c.4978C>T (p.Arg1660Cys) 142355538 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47043605 47043605 C T 290818 single nucleotide variant NM_015175.2(NBEAL2):c.5301+11C>T 201354947 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47002531 47002531 C T 290818 single nucleotide variant NM_015175.2(NBEAL2):c.5301+11C>T 201354947 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47044021 47044021 C T 290819 single nucleotide variant NM_015175.2(NBEAL2):c.5381C>T (p.Thr1794Met) 146899838 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47002724 47002724 C T 290819 single nucleotide variant NM_015175.2(NBEAL2):c.5381C>T (p.Thr1794Met) 146899838 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47044214 47044214 C T 290824 single nucleotide variant NM_015175.2(NBEAL2):c.5881+11G>A 201179667 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47003987 47003987 G A 290824 single nucleotide variant NM_015175.2(NBEAL2):c.5881+11G>A 201179667 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47045477 47045477 G A 290830 single nucleotide variant NM_015175.2(NBEAL2):c.6723C>T (p.Asn2241=) 563986757 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47005769 47005769 C T 290830 single nucleotide variant NM_015175.2(NBEAL2):c.6723C>T (p.Asn2241=) 563986757 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47047259 47047259 C T 290831 single nucleotide variant NM_015175.2(NBEAL2):c.6866G>A (p.Arg2289Gln) 181413143 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47006010 47006010 G A 290831 single nucleotide variant NM_015175.2(NBEAL2):c.6866G>A (p.Arg2289Gln) 181413143 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47047500 47047500 G A 290834 single nucleotide variant NM_015175.2(NBEAL2):c.7135-13C>T 767606190 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47007053 47007053 C T 290834 single nucleotide variant NM_015175.2(NBEAL2):c.7135-13C>T 767606190 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47048543 47048543 C T 290839 single nucleotide variant NM_015175.2(NBEAL2):c.7177C>T (p.His2393Tyr) 886058604 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47048598 47048598 C T 290839 single nucleotide variant NM_015175.2(NBEAL2):c.7177C>T (p.His2393Tyr) 886058604 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47007108 47007108 C T 290840 single nucleotide variant NM_015175.2(NBEAL2):c.7248G>A (p.Leu2416=) 749025670 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47048754 47048754 G A 290840 single nucleotide variant NM_015175.2(NBEAL2):c.7248G>A (p.Leu2416=) 749025670 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47007264 47007264 G A 290843 duplication NM_015175.2(NBEAL2):c.*151dupA 886058608 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47050961 47050961 A AA 290843 duplication NM_015175.2(NBEAL2):c.*151dupA 886058608 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009471 47009471 A AA 290849 single nucleotide variant NM_015175.2(NBEAL2):c.*263C>T 886058611 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009583 47009583 C T 290849 single nucleotide variant NM_015175.2(NBEAL2):c.*263C>T 886058611 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47051073 47051073 C T 291691 single nucleotide variant NM_015175.2(NBEAL2):c.-76G>A 886058588 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46979786 46979786 G A 291691 single nucleotide variant NM_015175.2(NBEAL2):c.-76G>A 886058588 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47021276 47021276 G A 291693 duplication NM_015175.2(NBEAL2):c.-14_-9dupAGCCGG 886058589 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46979848 46979853 AGCCGG AGCCGGAGCCGG 291693 duplication NM_015175.2(NBEAL2):c.-14_-9dupAGCCGG 886058589 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47021338 47021343 AGCCGG AGCCGGAGCCGG 291694 single nucleotide variant NM_015175.2(NBEAL2):c.51+11C>T 886058590 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46979923 46979923 C T 291694 single nucleotide variant NM_015175.2(NBEAL2):c.51+11C>T 886058590 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47021413 47021413 C T 291695 single nucleotide variant NM_015175.2(NBEAL2):c.440A>G (p.Asp147Gly) 886058591 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46989348 46989348 A G 291695 single nucleotide variant NM_015175.2(NBEAL2):c.440A>G (p.Asp147Gly) 886058591 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47030838 47030838 A G 291696 single nucleotide variant NM_015175.2(NBEAL2):c.474-4C>T 375726193 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46989507 46989507 C T 291696 single nucleotide variant NM_015175.2(NBEAL2):c.474-4C>T 375726193 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47030997 47030997 C T 291698 single nucleotide variant NM_015175.2(NBEAL2):c.544G>A (p.Ala182Thr) 745890949 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46989581 46989581 G A 291698 single nucleotide variant NM_015175.2(NBEAL2):c.544G>A (p.Ala182Thr) 745890949 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47031071 47031071 G A 291701 single nucleotide variant NM_015175.2(NBEAL2):c.634G>A (p.Gly212Arg) 886058592 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46991296 46991296 G A 291701 single nucleotide variant NM_015175.2(NBEAL2):c.634G>A (p.Gly212Arg) 886058592 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47032786 47032786 G A 291702 single nucleotide variant NM_015175.2(NBEAL2):c.1532G>C (p.Arg511Pro) 770721155 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995267 46995267 G C 291702 single nucleotide variant NM_015175.2(NBEAL2):c.1532G>C (p.Arg511Pro) 770721155 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47036757 47036757 G C 291706 single nucleotide variant NM_015175.2(NBEAL2):c.1618C>T (p.Arg540Trp) 201777850 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995353 46995353 C T 291706 single nucleotide variant NM_015175.2(NBEAL2):c.1618C>T (p.Arg540Trp) 201777850 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47036843 47036843 C T 291710 single nucleotide variant NM_015175.2(NBEAL2):c.1871G>A (p.Arg624Gln) 374527787 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995606 46995606 G A 291710 single nucleotide variant NM_015175.2(NBEAL2):c.1871G>A (p.Arg624Gln) 374527787 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47037096 47037096 G A 291717 single nucleotide variant NM_015175.2(NBEAL2):c.1948G>A (p.Gly650Arg) 201373710 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995763 46995763 G A 291717 single nucleotide variant NM_015175.2(NBEAL2):c.1948G>A (p.Gly650Arg) 201373710 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47037253 47037253 G A 291718 single nucleotide variant NM_015175.2(NBEAL2):c.1975C>T (p.Arg659Trp) 555487179 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995790 46995790 C T 291718 single nucleotide variant NM_015175.2(NBEAL2):c.1975C>T (p.Arg659Trp) 555487179 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47037280 47037280 C T 291721 single nucleotide variant NM_015175.2(NBEAL2):c.2219C>A (p.Thr740Lys) 886058594 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46996338 46996338 C A 291721 single nucleotide variant NM_015175.2(NBEAL2):c.2219C>A (p.Thr740Lys) 886058594 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47037828 47037828 C A 291734 single nucleotide variant NM_015175.2(NBEAL2):c.2376G>A (p.Arg792=) 200489667 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46996495 46996495 G A 291734 single nucleotide variant NM_015175.2(NBEAL2):c.2376G>A (p.Arg792=) 200489667 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47037985 47037985 G A 291736 single nucleotide variant NM_015175.2(NBEAL2):c.2473+7A>G 886058595 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47038089 47038089 A G 291736 single nucleotide variant NM_015175.2(NBEAL2):c.2473+7A>G 886058595 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46996599 46996599 A G 291746 single nucleotide variant NM_015175.2(NBEAL2):c.2532G>A (p.Arg844=) 759157034 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47038299 47038299 G A 291746 single nucleotide variant NM_015175.2(NBEAL2):c.2532G>A (p.Arg844=) 759157034 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46996809 46996809 G A 291762 single nucleotide variant NM_015175.2(NBEAL2):c.2887G>T (p.Gly963Cys) 368638331 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47039113 47039113 G T 291762 single nucleotide variant NM_015175.2(NBEAL2):c.2887G>T (p.Gly963Cys) 368638331 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46997623 46997623 G T 291764 single nucleotide variant NM_015175.2(NBEAL2):c.4169C>T (p.Ser1390Leu) 569206224 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47000268 47000268 C T 291764 single nucleotide variant NM_015175.2(NBEAL2):c.4169C>T (p.Ser1390Leu) 569206224 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47041758 47041758 C T 291767 single nucleotide variant NM_015175.2(NBEAL2):c.4367G>A (p.Arg1456His) 117340996 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47001062 47001062 G A 291767 single nucleotide variant NM_015175.2(NBEAL2):c.4367G>A (p.Arg1456His) 117340996 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47042552 47042552 G A 291768 single nucleotide variant NM_015175.2(NBEAL2):c.4789G>A (p.Ala1597Thr) 147659992 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47001926 47001926 G A 291768 single nucleotide variant NM_015175.2(NBEAL2):c.4789G>A (p.Ala1597Thr) 147659992 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47043416 47043416 G A 291769 single nucleotide variant NM_015175.2(NBEAL2):c.5103C>T (p.Phe1701=) 199537643 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47002240 47002240 C T 291769 single nucleotide variant NM_015175.2(NBEAL2):c.5103C>T (p.Phe1701=) 199537643 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47043730 47043730 C T 291773 single nucleotide variant NM_015175.2(NBEAL2):c.5769G>A (p.Ser1923=) 200100160 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47003864 47003864 G A 291773 single nucleotide variant NM_015175.2(NBEAL2):c.5769G>A (p.Ser1923=) 200100160 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47045354 47045354 G A 291775 single nucleotide variant NM_015175.2(NBEAL2):c.7407G>A (p.Pro2469=) 568006584 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47049087 47049087 G A 291775 single nucleotide variant NM_015175.2(NBEAL2):c.7407G>A (p.Pro2469=) 568006584 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47007597 47007597 G A 291794 single nucleotide variant NM_015175.2(NBEAL2):c.7736T>C (p.Ile2579Thr) 778429939 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47049789 47049789 T C 291794 single nucleotide variant NM_015175.2(NBEAL2):c.7736T>C (p.Ile2579Thr) 778429939 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47008299 47008299 T C 291795 single nucleotide variant NM_015175.2(NBEAL2):c.*37C>G 886058607 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47050847 47050847 C G 291795 single nucleotide variant NM_015175.2(NBEAL2):c.*37C>G 886058607 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009357 47009357 C G 291796 single nucleotide variant NM_015175.2(NBEAL2):c.*155C>A 886058609 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47050965 47050965 C A 291796 single nucleotide variant NM_015175.2(NBEAL2):c.*155C>A 886058609 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009475 47009475 C A 291798 single nucleotide variant NM_015175.2(NBEAL2):c.*216A>G 2305640 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47051026 47051026 A G 291798 single nucleotide variant NM_015175.2(NBEAL2):c.*216A>G 2305640 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009536 47009536 A G 291799 single nucleotide variant NM_015175.2(NBEAL2):c.*244C>G 886058610 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009564 47009564 C G 291799 single nucleotide variant NM_015175.2(NBEAL2):c.*244C>G 886058610 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47051054 47051054 C G 294914 single nucleotide variant NM_015175.2(NBEAL2):c.690G>C (p.Leu230=) 181297174 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46991453 46991453 G C 294914 single nucleotide variant NM_015175.2(NBEAL2):c.690G>C (p.Leu230=) 181297174 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47032943 47032943 G C 294915 single nucleotide variant NM_015175.2(NBEAL2):c.1053G>A (p.Ala351=) 185057557 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46992495 46992495 G A 294915 single nucleotide variant NM_015175.2(NBEAL2):c.1053G>A (p.Ala351=) 185057557 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47033985 47033985 G A 294916 single nucleotide variant NM_015175.2(NBEAL2):c.1271G>A (p.Arg424Gln) 768145657 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46994528 46994528 G A 294916 single nucleotide variant NM_015175.2(NBEAL2):c.1271G>A (p.Arg424Gln) 768145657 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47036018 47036018 G A 294917 single nucleotide variant NM_015175.2(NBEAL2):c.1393G>A (p.Ala465Thr) 746838327 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995128 46995128 G A 294917 single nucleotide variant NM_015175.2(NBEAL2):c.1393G>A (p.Ala465Thr) 746838327 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47036618 47036618 G A 294918 single nucleotide variant NM_015175.2(NBEAL2):c.1600C>T (p.Arg534Cys) 202209383 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995335 46995335 C T 294918 single nucleotide variant NM_015175.2(NBEAL2):c.1600C>T (p.Arg534Cys) 202209383 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47036825 47036825 C T 294921 single nucleotide variant NM_015175.2(NBEAL2):c.2557-5C>G 760228884 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47038439 47038439 C G 294921 single nucleotide variant NM_015175.2(NBEAL2):c.2557-5C>G 760228884 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46996949 46996949 C G 294925 single nucleotide variant NM_015175.2(NBEAL2):c.3036C>T (p.Ser1012=) 139218926 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47039634 47039634 C T 294925 single nucleotide variant NM_015175.2(NBEAL2):c.3036C>T (p.Ser1012=) 139218926 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46998144 46998144 C T 294926 single nucleotide variant NM_015175.2(NBEAL2):c.3087C>T (p.Leu1029=) 373998295 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47039685 47039685 C T 294926 single nucleotide variant NM_015175.2(NBEAL2):c.3087C>T (p.Leu1029=) 373998295 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46998195 46998195 C T 294931 single nucleotide variant NM_015175.2(NBEAL2):c.3327C>T (p.Asp1109=) 143491739 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47040312 47040312 C T 294931 single nucleotide variant NM_015175.2(NBEAL2):c.3327C>T (p.Asp1109=) 143491739 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46998822 46998822 C T 294936 single nucleotide variant NM_015175.2(NBEAL2):c.3373G>A (p.Asp1125Asn) 373444282 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46998868 46998868 G A 294936 single nucleotide variant NM_015175.2(NBEAL2):c.3373G>A (p.Asp1125Asn) 373444282 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47040358 47040358 G A 294953 single nucleotide variant NM_015175.2(NBEAL2):c.4000C>G (p.Pro1334Ala) 564781036 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47000099 47000099 C G 294953 single nucleotide variant NM_015175.2(NBEAL2):c.4000C>G (p.Pro1334Ala) 564781036 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47041589 47041589 C G 294954 single nucleotide variant NM_015175.2(NBEAL2):c.4246G>A (p.Gly1416Ser) 781701383 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47000345 47000345 G A 294954 single nucleotide variant NM_015175.2(NBEAL2):c.4246G>A (p.Gly1416Ser) 781701383 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47041835 47041835 G A 294955 single nucleotide variant NM_015175.2(NBEAL2):c.4257G>A (p.Pro1419=) 116791394 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47000356 47000356 G A 294955 single nucleotide variant NM_015175.2(NBEAL2):c.4257G>A (p.Pro1419=) 116791394 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47041846 47041846 G A 294956 single nucleotide variant NM_015175.2(NBEAL2):c.4532C>T (p.Ala1511Val) 886058600 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47001326 47001326 C T 294956 single nucleotide variant NM_015175.2(NBEAL2):c.4532C>T (p.Ala1511Val) 886058600 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47042816 47042816 C T 294958 single nucleotide variant NM_015175.2(NBEAL2):c.4669C>G (p.Leu1557Val) 534419583 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47001713 47001713 C G 294958 single nucleotide variant NM_015175.2(NBEAL2):c.4669C>G (p.Leu1557Val) 534419583 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47043203 47043203 C G 294961 single nucleotide variant NM_015175.2(NBEAL2):c.5356A>T (p.Thr1786Ser) 373627201 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47002699 47002699 A T 294961 single nucleotide variant NM_015175.2(NBEAL2):c.5356A>T (p.Thr1786Ser) 373627201 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47044189 47044189 A T 294962 single nucleotide variant NM_015175.2(NBEAL2):c.6318C>T (p.Tyr2106=) 141569354 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47004995 47004995 C T 294962 single nucleotide variant NM_015175.2(NBEAL2):c.6318C>T (p.Tyr2106=) 141569354 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47046485 47046485 C T 294964 single nucleotide variant NM_015175.2(NBEAL2):c.6413G>A (p.Arg2138Lys) 886058603 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47005090 47005090 G A 294964 single nucleotide variant NM_015175.2(NBEAL2):c.6413G>A (p.Arg2138Lys) 886058603 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47046580 47046580 G A 294965 single nucleotide variant NM_015175.2(NBEAL2):c.7513G>A (p.Val2505Ile) 886058605 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47049311 47049311 G A 294965 single nucleotide variant NM_015175.2(NBEAL2):c.7513G>A (p.Val2505Ile) 886058605 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47007821 47007821 G A 294982 deletion NM_015175.2(NBEAL2):c.*104delG 397708574 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47050914 47050914 G - 294982 deletion NM_015175.2(NBEAL2):c.*104delG 397708574 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009424 47009424 G - 294983 single nucleotide variant NM_015175.2(NBEAL2):c.*179C>A 111271184 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47050989 47050989 C A 294983 single nucleotide variant NM_015175.2(NBEAL2):c.*179C>A 111271184 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009499 47009499 C A 295288 single nucleotide variant NM_015175.2(NBEAL2):c.-162C>T 886058587 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46979700 46979700 C T 295288 single nucleotide variant NM_015175.2(NBEAL2):c.-162C>T 886058587 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47021190 47021190 C T 295290 single nucleotide variant NM_015175.2(NBEAL2):c.907C>G (p.Leu303Val) 886058593 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46991670 46991670 C G 295290 single nucleotide variant NM_015175.2(NBEAL2):c.907C>G (p.Leu303Val) 886058593 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47033160 47033160 C G 295291 single nucleotide variant NM_015175.2(NBEAL2):c.1081A>G (p.Thr361Ala) 769842468 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46992523 46992523 A G 295291 single nucleotide variant NM_015175.2(NBEAL2):c.1081A>G (p.Thr361Ala) 769842468 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47034013 47034013 A G 295294 single nucleotide variant NM_015175.2(NBEAL2):c.1380G>A (p.Pro460=) 114363730 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995115 46995115 G A 295294 single nucleotide variant NM_015175.2(NBEAL2):c.1380G>A (p.Pro460=) 114363730 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47036605 47036605 G A 295303 single nucleotide variant NM_015175.2(NBEAL2):c.1613G>A (p.Arg538His) 368310677 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46995348 46995348 G A 295303 single nucleotide variant NM_015175.2(NBEAL2):c.1613G>A (p.Arg538His) 368310677 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47036838 47036838 G A 295305 single nucleotide variant NM_015175.2(NBEAL2):c.2195C>T (p.Thr732Met) 376623029 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46996314 46996314 C T 295305 single nucleotide variant NM_015175.2(NBEAL2):c.2195C>T (p.Thr732Met) 376623029 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47037804 47037804 C T 295309 single nucleotide variant NM_015175.2(NBEAL2):c.2231C>T (p.Pro744Leu) 375744996 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46996350 46996350 C T 295309 single nucleotide variant NM_015175.2(NBEAL2):c.2231C>T (p.Pro744Leu) 375744996 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47037840 47037840 C T 295312 single nucleotide variant NM_015175.2(NBEAL2):c.2486C>T (p.Thr829Met) 577957158 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47038253 47038253 C T 295312 single nucleotide variant NM_015175.2(NBEAL2):c.2486C>T (p.Thr829Met) 577957158 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46996763 46996763 C T 295316 single nucleotide variant NM_015175.2(NBEAL2):c.3135G>A (p.Met1045Ile) 373596976 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46998479 46998479 G A 295316 single nucleotide variant NM_015175.2(NBEAL2):c.3135G>A (p.Met1045Ile) 373596976 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47039969 47039969 G A 295318 single nucleotide variant NM_015175.2(NBEAL2):c.3308G>A (p.Arg1103Gln) 374012992 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47040293 47040293 G A 295318 single nucleotide variant NM_015175.2(NBEAL2):c.3308G>A (p.Arg1103Gln) 374012992 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46998803 46998803 G A 295322 single nucleotide variant NM_015175.2(NBEAL2):c.3607C>T (p.Arg1203Trp) 769438781 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 46999378 46999378 C T 295322 single nucleotide variant NM_015175.2(NBEAL2):c.3607C>T (p.Arg1203Trp) 769438781 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47040868 47040868 C T 295324 single nucleotide variant NM_015175.2(NBEAL2):c.5277C>T (p.Arg1759=) 370969690 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47002496 47002496 C T 295324 single nucleotide variant NM_015175.2(NBEAL2):c.5277C>T (p.Arg1759=) 370969690 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47043986 47043986 C T 295340 single nucleotide variant NM_015175.2(NBEAL2):c.5459+8G>A 747932446 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47002810 47002810 G A 295340 single nucleotide variant NM_015175.2(NBEAL2):c.5459+8G>A 747932446 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47044300 47044300 G A 295341 single nucleotide variant NM_015175.2(NBEAL2):c.6145T>C (p.Tyr2049His) 886058601 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47004340 47004340 T C 295341 single nucleotide variant NM_015175.2(NBEAL2):c.6145T>C (p.Tyr2049His) 886058601 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47045830 47045830 T C 295353 single nucleotide variant NM_015175.2(NBEAL2):c.6404A>G (p.Gln2135Arg) 886058602 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47005081 47005081 A G 295353 single nucleotide variant NM_015175.2(NBEAL2):c.6404A>G (p.Gln2135Arg) 886058602 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47046571 47046571 A G 295355 single nucleotide variant NM_015175.2(NBEAL2):c.8096G>A (p.Arg2699His) 376357238 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47050547 47050547 G A 295355 single nucleotide variant NM_015175.2(NBEAL2):c.8096G>A (p.Arg2699His) 376357238 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009057 47009057 G A 295357 single nucleotide variant NM_015175.2(NBEAL2):c.8164-3C>G 886058606 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47050706 47050706 C G 295357 single nucleotide variant NM_015175.2(NBEAL2):c.8164-3C>G 886058606 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009216 47009216 C G 295358 single nucleotide variant NM_015175.2(NBEAL2):c.*65A>G 538014431 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47050875 47050875 A G 295358 single nucleotide variant NM_015175.2(NBEAL2):c.*65A>G 538014431 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009385 47009385 A G 295359 single nucleotide variant NM_015175.2(NBEAL2):c.*219A>C 1048808 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47009539 47009539 A C 295359 single nucleotide variant NM_015175.2(NBEAL2):c.*219A>C 1048808 MedGen:C0272302,OMIM:139090,Orphanet:ORPHA721,SNOMED CT:C0272302 3 47051029 47051029 A C

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 3 47043538 rs2305634 C T rs2305634 6.29E-05 Serum metabolites HPOID:0011111 NA C cds-synon GWASdb_trait 3 47047500 rs181413143 G A rs181413143 0.0001 Breast cancer HPOID:0003002 DOID:1612 G missense GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000160796.16 NBEAL2 614169