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 |