Position |
HGVS |
dbSNP id |
Phenotype List |
Distance |
Clinvar Significance |
15:23043279 |
NC_000015.9:g.(?_23043279)_(23086436_?)dup |
NA |
Hereditary spastic paraplegia 6 | -43087 |
Uncertain significance |
15:23043279 |
NC_000015.10:g.(?_22786632)_(22829789_?)del |
NA |
Hereditary spastic paraplegia 6 | -43087 |
Uncertain significance |
15:23043352 |
NM_144599.5(NIPA1):c.*5474_*5477del |
rs747886565 |
Spastic paraplegia, autosomal dominant | -43014 |
Uncertain significance |
15:23043399 |
NM_144599.5(NIPA1):c.*5430T>G |
rs886050986 |
Hereditary spastic paraplegia 6 | -42967 |
Uncertain significance |
15:23043433 |
NM_144599.5(NIPA1):c.*5395_*5396del |
rs886050987 |
Spastic paraplegia, autosomal dominant | -42933 |
Uncertain significance |
15:23043467 |
NM_144599.5(NIPA1):c.*5362A>G |
rs1895714380 |
Hereditary spastic paraplegia 6 | -42899 |
Uncertain significance |
15:23043498 |
NM_144599.5(NIPA1):c.*5331T>G |
rs73412681 |
Hereditary spastic paraplegia 6 | -42868 |
Benign |
15:23043530 |
NM_144599.5(NIPA1):c.*5299G>C |
rs73412682 |
Hereditary spastic paraplegia 6 | -42836 |
Benign |
15:23043571 |
NM_144599.5(NIPA1):c.*5258G>A |
rs181610828 |
Hereditary spastic paraplegia 6 | -42795 |
Uncertain significance |
15:23043592 |
NM_144599.5(NIPA1):c.*5237G>C |
rs74003089 |
Hereditary spastic paraplegia 6 | -42774 |
Benign |
15:23043644 |
NM_144599.5(NIPA1):c.*5185C>T |
rs569739849 |
Hereditary spastic paraplegia 6 | -42722 |
Uncertain significance |
15:23043758 |
NM_144599.5(NIPA1):c.*5071C>T |
rs141920126 |
Hereditary spastic paraplegia 6 | -42608 |
Benign |
15:23043785 |
NM_144599.5(NIPA1):c.*5044G>C |
rs191543264 |
Hereditary spastic paraplegia 6 | -42581 |
Benign |
15:23043865 |
NM_144599.5(NIPA1):c.*4964G>A |
rs146129067 |
Hereditary spastic paraplegia 6 | -42501 |
Benign |
15:23043896 |
NM_144599.5(NIPA1):c.*4933C>T |
rs7181789 |
Hereditary spastic paraplegia 6 | -42470 |
Benign |
15:23043915 |
NM_144599.5(NIPA1):c.*4914G>T |
rs1022149490 |
Hereditary spastic paraplegia 6 | -42451 |
Uncertain significance |
15:23043934 |
NM_144599.5(NIPA1):c.*4895A>G |
rs754185572 |
Hereditary spastic paraplegia 6 | -42432 |
Uncertain significance |
15:23043944 |
NM_144599.5(NIPA1):c.*4885T>C |
rs555159081 |
Hereditary spastic paraplegia 6 | -42422 |
Benign |
15:23043959 |
NM_144599.5(NIPA1):c.*4870T>G |
rs886050988 |
Hereditary spastic paraplegia 6 | -42407 |
Uncertain significance |
15:23044037 |
NM_144599.5(NIPA1):c.*4792G>T |
rs139161065 |
Hereditary spastic paraplegia 6 | -42329 |
Benign |
15:23044055 |
NM_144599.5(NIPA1):c.*4774G>A |
rs541776619 |
Hereditary spastic paraplegia 6 | -42311 |
Benign |
15:23044095 |
NM_144599.5(NIPA1):c.*4734G>C |
rs73412685 |
Hereditary spastic paraplegia 6 | -42271 |
Benign |
15:23044113 |
NM_144599.5(NIPA1):c.*4716G>A |
rs540912938 |
Hereditary spastic paraplegia 6 | -42253 |
Benign |
15:23044139 |
NM_144599.5(NIPA1):c.*4690C>A |
rs554203851 |
Hereditary spastic paraplegia 6 | -42227 |
Uncertain significance |
15:23044152 |
NM_144599.5(NIPA1):c.*4677G>A |
rs780979919 |
Hereditary spastic paraplegia 6 | -42214 |
Uncertain significance |
15:23044173 |
NM_144599.5(NIPA1):c.*4656G>A |
rs903689729 |
Hereditary spastic paraplegia 6 | -42193 |
Uncertain significance |
15:23044310 |
NM_144599.5(NIPA1):c.*4519T>C |
rs1895698772 |
Hereditary spastic paraplegia 6 | -42056 |
Uncertain significance |
15:23044319 |
NM_144599.5(NIPA1):c.*4510T>C |
rs528249723 |
Hereditary spastic paraplegia 6 | -42047 |
Benign |
15:23044333 |
NM_144599.5(NIPA1):c.*4496A>T |
rs186274091 |
Hereditary spastic paraplegia 6 | -42033 |
Likely benign |
15:23044466 |
NM_144599.5(NIPA1):c.*4363C>T |
rs139459875 |
Hereditary spastic paraplegia 6 | -41900 |
Benign |
15:23044611 |
NM_144599.5(NIPA1):c.*4218G>A |
rs182099304 |
Hereditary spastic paraplegia 6 | -41755 |
Benign |
15:23044630 |
NM_144599.5(NIPA1):c.*4199A>G |
rs1895693174 |
Hereditary spastic paraplegia 6 | -41736 |
Uncertain significance |
15:23044673 |
NM_144599.5(NIPA1):c.*4156A>G |
rs577403895 |
Hereditary spastic paraplegia 6 | -41693 |
Likely benign |
15:23044682 |
NM_144599.5(NIPA1):c.*4147C>T |
rs886050989 |
Hereditary spastic paraplegia 6 | -41684 |
Uncertain significance |
15:23044786 |
NM_144599.5(NIPA1):c.*4043A>G |
rs1022534252 |
Hereditary spastic paraplegia 6 | -41580 |
Uncertain significance |
15:23044826 |
NM_144599.5(NIPA1):c.*4003G>A |
rs1452895080 |
Hereditary spastic paraplegia 6 | -41540 |
Uncertain significance |
15:23044905 |
NM_144599.5(NIPA1):c.*3924T>C |
rs563261299 |
Hereditary spastic paraplegia 6 | -41461 |
Uncertain significance |
15:23044919 |
NM_144599.5(NIPA1):c.*3910G>A |
rs74767096 |
Hereditary spastic paraplegia 6 | -41447 |
Benign |
15:23044944 |
NM_144599.5(NIPA1):c.*3885C>T |
rs972270077 |
Hereditary spastic paraplegia 6 | -41422 |
Uncertain significance |
15:23044957 |
NM_144599.5(NIPA1):c.*3872T>G |
rs528309949 |
Hereditary spastic paraplegia 6 | -41409 |
Benign |
15:23044981 |
NM_144599.5(NIPA1):c.*3848C>T |
rs561650048 |
Hereditary spastic paraplegia 6 | -41385 |
Uncertain significance |
15:23044991 |
NM_144599.5(NIPA1):c.*3838G>A |
rs752012233 |
Hereditary spastic paraplegia 6 | -41375 |
Uncertain significance |
15:23045006 |
NM_144599.5(NIPA1):c.*3823G>A |
rs886050990 |
Hereditary spastic paraplegia 6 | -41360 |
Uncertain significance |
15:23045122 |
NM_144599.5(NIPA1):c.*3707G>C |
rs373829118 |
Hereditary spastic paraplegia 6 | -41244 |
Uncertain significance |
15:23045124 |
NM_144599.5(NIPA1):c.*3705C>T |
rs866431669 |
Hereditary spastic paraplegia 6 | -41242 |
Uncertain significance |
15:23045126 |
NM_144599.5(NIPA1):c.*3703T>G |
rs775279166 |
Hereditary spastic paraplegia 6 | -41240 |
Uncertain significance |
15:23045127 |
NM_144599.5(NIPA1):c.*3702C>T |
rs3812923 |
Hereditary spastic paraplegia 6 | -41239 |
Benign |
15:23045239 |
NM_144599.5(NIPA1):c.*3590A>G |
rs145202306 |
Hereditary spastic paraplegia 6 | -41127 |
Benign |
15:23045349 |
NM_144599.5(NIPA1):c.*3480C>T |
rs112696483 |
Hereditary spastic paraplegia 6 | -41017 |
Benign |
15:23045367 |
NM_144599.5(NIPA1):c.*3462A>G |
rs766376279 |
Hereditary spastic paraplegia 6 | -40999 |
Uncertain significance |
15:23045429 |
NM_144599.5(NIPA1):c.*3400C>T |
rs577663387 |
Hereditary spastic paraplegia 6 | -40937 |
Benign |
15:23045436 |
NM_144599.5(NIPA1):c.*3393A>T |
rs147611065 |
Hereditary spastic paraplegia 6 | -40930 |
Benign |
15:23045513 |
NM_144599.5(NIPA1):c.*3316T>C |
rs527532188 |
Spastic paraplegia, autosomal dominant | -40853 |
Uncertain significance |
15:23045549 |
NM_144599.5(NIPA1):c.*3280A>G |
rs1281408389 |
Hereditary spastic paraplegia 6 | -40817 |
Uncertain significance |
15:23045551 |
NM_144599.5(NIPA1):c.*3278C>G |
rs57615013 |
Hereditary spastic paraplegia 6 | -40815 |
Benign |
15:23045660 |
NM_144599.5(NIPA1):c.*3169A>G |
rs886050991 |
Hereditary spastic paraplegia 6 | -40706 |
Uncertain significance |
15:23045702 |
NM_144599.5(NIPA1):c.*3127G>A |
rs547238314 |
Spastic paraplegia, autosomal dominant | -40664 |
Likely benign |
15:23045703 |
NM_144599.5(NIPA1):c.*3126C>T |
rs886050992 |
Hereditary spastic paraplegia 6 | -40663 |
Uncertain significance |
15:23045716 |
NM_144599.5(NIPA1):c.*3112dup |
rs556665515 |
Spastic paraplegia, autosomal dominant | -40650 |
Likely benign |
15:23045719 |
NM_144599.5(NIPA1):c.*3110C>T |
rs568699524 |
Hereditary spastic paraplegia 6 | -40647 |
Uncertain significance |
15:23045821 |
NM_144599.5(NIPA1):c.*3008C>T |
rs886050993 |
Hereditary spastic paraplegia 6 | -40545 |
Uncertain significance |
15:23045880 |
NM_144599.5(NIPA1):c.*2949C>G |
rs569446066 |
Hereditary spastic paraplegia 6 | -40486 |
Uncertain significance |
15:23045887 |
NM_144599.5(NIPA1):c.*2942G>A |
rs1363852025 |
Hereditary spastic paraplegia 6 | -40479 |
Uncertain significance |
15:23046013 |
NM_144599.5(NIPA1):c.*2816del |
rs140112208 |
Spastic paraplegia, autosomal dominant | -40353 |
Likely benign |
15:23046048 |
NM_144599.5(NIPA1):c.*2781G>T |
rs192859420 |
Hereditary spastic paraplegia 6 | -40318 |
Likely benign |
15:23046049 |
NM_144599.5(NIPA1):c.*2780G>T |
rs183353690 |
Hereditary spastic paraplegia 6 | -40317 |
Benign |
15:23046101 |
NM_144599.5(NIPA1):c.*2727dup |
rs746846799 |
Spastic paraplegia, autosomal dominant | -40265 |
Uncertain significance |
15:23046106 |
NM_144599.5(NIPA1):c.*2723A>C |
rs1895664677 |
Hereditary spastic paraplegia 6 | -40260 |
Uncertain significance |
15:23046144 |
NM_144599.5(NIPA1):c.*2685T>C |
rs886050994 |
Hereditary spastic paraplegia 6 | -40222 |
Uncertain significance |
15:23046180 |
NM_144599.5(NIPA1):c.*2649A>G |
rs8027756 |
Hereditary spastic paraplegia 6 | -40186 |
Benign |
15:23046286 |
NM_144599.5(NIPA1):c.*2543C>G |
rs879536673 |
Hereditary spastic paraplegia 6 | -40080 |
Uncertain significance |
15:23046314 |
NM_144599.5(NIPA1):c.*2515G>C |
rs6606820 |
Hereditary spastic paraplegia 6 | -40052 |
Benign |
15:23046332 |
NM_144599.5(NIPA1):c.*2497G>T |
rs183616718 |
Hereditary spastic paraplegia 6 | -40034 |
Uncertain significance |
15:23046360 |
NM_144599.5(NIPA1):c.*2469A>G |
rs73412688 |
Hereditary spastic paraplegia 6 | -40006 |
Benign |
15:23046364 |
NM_144599.5(NIPA1):c.*2465C>G |
rs1191576484 |
Hereditary spastic paraplegia 6 | -40002 |
Uncertain significance |
15:23046404 |
NM_144599.5(NIPA1):c.*2425A>G |
rs12902722 |
Hereditary spastic paraplegia 6 | -39962 |
Benign |
15:23046424 |
NM_144599.5(NIPA1):c.*2405A>G |
rs886050995 |
Hereditary spastic paraplegia 6 | -39942 |
Uncertain significance |
15:23046431 |
NM_144599.5(NIPA1):c.*2398A>G |
rs188278999 |
Hereditary spastic paraplegia 6 | -39935 |
Uncertain significance |
15:23046454 |
NM_144599.5(NIPA1):c.*2375A>G |
rs117724187 |
Hereditary spastic paraplegia 6 | -39912 |
Uncertain significance |
15:23046583 |
NM_144599.5(NIPA1):c.*2246G>A |
rs1595649611 |
Hereditary spastic paraplegia 6 | -39783 |
Uncertain significance |
15:23046620 |
NM_144599.5(NIPA1):c.*2209T>C |
rs886050996 |
Hereditary spastic paraplegia 6 | -39746 |
Uncertain significance |
15:23046681 |
NM_144599.5(NIPA1):c.*2148C>A |
rs886050997 |
Hereditary spastic paraplegia 6 | -39685 |
Uncertain significance |
15:23046717 |
NM_144599.5(NIPA1):c.*2112A>G |
rs566155443 |
Hereditary spastic paraplegia 6 | -39649 |
Uncertain significance |
15:23046723 |
NM_144599.5(NIPA1):c.*2106T>C |
rs886050998 |
Hereditary spastic paraplegia 6 | -39643 |
Uncertain significance |
15:23046750 |
NM_144599.5(NIPA1):c.*2079T>G |
rs886050999 |
Hereditary spastic paraplegia 6 | -39616 |
Uncertain significance |
15:23046759 |
NM_144599.5(NIPA1):c.*2070A>C |
rs746614226 |
Hereditary spastic paraplegia 6 | -39607 |
Uncertain significance |
15:23046770 |
NM_144599.5(NIPA1):c.*2058_*2059insTT |
rs3057642 |
Spastic paraplegia, autosomal dominant | -39596 |
Benign |
15:23046809 |
NM_144599.5(NIPA1):c.*2020C>T |
rs185496552 |
Hereditary spastic paraplegia 6 | -39557 |
Uncertain significance |
15:23046814 |
NM_144599.5(NIPA1):c.*2015G>C |
rs886051000 |
Hereditary spastic paraplegia 6 | -39552 |
Uncertain significance |
15:23046848 |
NM_144599.5(NIPA1):c.*1981A>G |
rs6606822 |
Hereditary spastic paraplegia 6 | -39518 |
Benign |
15:23046855 |
NM_144599.5(NIPA1):c.*1974C>A |
rs6606823 |
Hereditary spastic paraplegia 6 | -39511 |
Benign |
15:23046900 |
NM_144599.5(NIPA1):c.*1925_*1929del |
rs199507682 |
Spastic paraplegia, autosomal dominant | -39466 |
Likely benign |
15:23046902 |
NM_144599.5(NIPA1):c.*1927A>G |
rs17807140 |
Hereditary spastic paraplegia 6 | -39464 |
Benign |
15:23046969 |
NM_144599.5(NIPA1):c.*1860G>A |
rs886051001 |
Hereditary spastic paraplegia 6 | -39397 |
Uncertain significance |
15:23046982 |
NM_144599.5(NIPA1):c.*1845_*1846dup |
rs113532349 |
Spastic paraplegia, autosomal dominant | -39384 |
Uncertain significance |
15:23046982 |
NM_144599.5(NIPA1):c.*1846dup |
rs113532349 |
Spastic paraplegia, autosomal dominant | -39384 |
Benign |
15:23047041 |
NM_144599.5(NIPA1):c.*1788G>A |
rs540627450 |
Hereditary spastic paraplegia 6 | -39325 |
Uncertain significance |
15:23047079 |
NM_144599.5(NIPA1):c.*1750C>G |
rs562165057 |
Hereditary spastic paraplegia 6 | -39287 |
Uncertain significance |
15:23047105 |
NM_144599.5(NIPA1):c.*1724C>G |
rs61523596 |
Hereditary spastic paraplegia 6 | -39261 |
Benign |
15:23047126 |
NM_144599.5(NIPA1):c.*1703C>T |
rs763790822 |
Hereditary spastic paraplegia 6 | -39240 |
Uncertain significance |
15:23047266 |
NM_144599.5(NIPA1):c.*1563C>T |
rs72698098 |
Hereditary spastic paraplegia 6 | -39100 |
Benign |
15:23047300 |
NM_144599.5(NIPA1):c.*1529C>T |
rs945517071 |
Hereditary spastic paraplegia 6 | -39066 |
Uncertain significance |
15:23047424 |
NM_144599.5(NIPA1):c.*1405G>C |
rs7181585 |
Hereditary spastic paraplegia 6 | -38942 |
Benign |
15:23047434 |
NM_144599.5(NIPA1):c.*1395C>T |
rs537516417 |
Hereditary spastic paraplegia 6 | -38932 |
Benign |
15:23047499 |
NM_144599.5(NIPA1):c.*1330G>A |
rs190362420 |
Hereditary spastic paraplegia 6 | -38867 |
Uncertain significance |
15:23047552 |
NM_144599.5(NIPA1):c.*1277A>C |
rs1045487020 |
Hereditary spastic paraplegia 6 | -38814 |
Uncertain significance |
15:23047638 |
NM_144599.5(NIPA1):c.*1190_*1191del |
rs764504513 |
Spastic paraplegia, autosomal dominant | -38728 |
Uncertain significance |
15:23047653 |
NM_144599.5(NIPA1):c.*1176T>C |
rs1326921965 |
Hereditary spastic paraplegia 6 | -38713 |
Uncertain significance |
15:23047683 |
NM_144599.5(NIPA1):c.*1146T>C |
rs181621508 |
Hereditary spastic paraplegia 6 | -38683 |
Benign |
15:23047702 |
NM_144599.5(NIPA1):c.*1127C>G |
rs1059774 |
Hereditary spastic paraplegia 6 | -38664 |
Benign |
15:23047714 |
NM_144599.5(NIPA1):c.*1115C>T |
rs759987319 |
Hereditary spastic paraplegia 6 | -38652 |
Uncertain significance |
15:23047817 |
NM_144599.5(NIPA1):c.*1012A>G |
rs186626641 |
Hereditary spastic paraplegia 6 | -38549 |
Benign |
15:23047821 |
NM_144599.5(NIPA1):c.*1007dup |
rs548458173 |
Spastic paraplegia, autosomal dominant | -38545 |
Likely benign |
15:23047853 |
NM_144599.5(NIPA1):c.*976C>T |
rs555439829 |
Hereditary spastic paraplegia 6 | -38513 |
Uncertain significance |
15:23047857 |
NM_144599.5(NIPA1):c.*972C>T |
rs8025849 |
Hereditary spastic paraplegia 6 | -38509 |
Benign |
15:23047943 |
NM_144599.5(NIPA1):c.*886C>T |
rs886051002 |
Hereditary spastic paraplegia 6 | -38423 |
Uncertain significance |
15:23048049 |
NM_144599.5(NIPA1):c.*780G>A |
rs886051003 |
Hereditary spastic paraplegia 6 | -38317 |
Uncertain significance |
15:23048120 |
NM_144599.5(NIPA1):c.*709G>A |
rs922263881 |
Hereditary spastic paraplegia 6 | -38246 |
Uncertain significance |
15:23048177 |
NM_144599.5(NIPA1):c.*652A>G |
rs886051004 |
Hereditary spastic paraplegia 6 | -38189 |
Uncertain significance |
15:23048182 |
NM_144599.5(NIPA1):c.*647A>G |
rs1895618258 |
Hereditary spastic paraplegia 6 | -38184 |
Uncertain significance |
15:23048276 |
NM_144599.5(NIPA1):c.*553C>A |
rs545152723 |
Hereditary spastic paraplegia 6 | -38090 |
Uncertain significance |
15:23048281 |
NM_144599.5(NIPA1):c.*548A>C |
rs886051005 |
Hereditary spastic paraplegia 6 | -38085 |
Uncertain significance |
15:23048298 |
NM_144599.5(NIPA1):c.*531T>G |
rs1020166733 |
Hereditary spastic paraplegia 6 | -38068 |
Uncertain significance |
15:23048310 |
NM_144599.5(NIPA1):c.*519T>A |
rs560426753 |
Hereditary spastic paraplegia 6 | -38056 |
Uncertain significance |
15:23048393 |
NM_144599.5(NIPA1):c.*435_*436del |
rs10611411 |
Spastic paraplegia, autosomal dominant | -37973 |
Benign |
15:23048415 |
NM_144599.5(NIPA1):c.*414C>T |
rs1216632909 |
Hereditary spastic paraplegia 6 | -37951 |
Uncertain significance |
15:23048542 |
NM_144599.5(NIPA1):c.*287T>C |
rs3812924 |
Hereditary spastic paraplegia 6|not provided | -37824 |
Benign |
15:23048628 |
NM_144599.5(NIPA1):c.*201A>G |
rs536521096 |
Hereditary spastic paraplegia 6 | -37738 |
Uncertain significance |
15:23048691 |
NM_144599.5(NIPA1):c.*138G>A |
rs544582872 |
Hereditary spastic paraplegia 6 | -37675 |
Uncertain significance |
15:23048772 |
NM_144599.5(NIPA1):c.*57G>A |
rs886051006 |
Hereditary spastic paraplegia 6 | -37594 |
Uncertain significance |
15:23048792 |
NM_144599.5(NIPA1):c.*37A>T |
rs886051007 |
Hereditary spastic paraplegia 6 | -37574 |
Uncertain significance |
15:23048809 |
NC_000015.10:g.(?_22786637)_(22824259_?)del |
NA |
Hereditary spastic paraplegia 6 | -37557 |
Uncertain significance |
15:23048818 |
NM_144599.5(NIPA1):c.*11G>C |
rs188393827 |
Hereditary spastic paraplegia 6 | -37548 |
Benign |
15:23048819 |
NC_000015.10:g.(?_22786647)_(22824249_?)del |
NA |
Hereditary spastic paraplegia 6 | -37547 |
Uncertain significance |
15:23048819 |
NC_000015.9:g.(?_23048819)_(23086421_?)dup |
NA |
Hereditary spastic paraplegia 6 | -37547 |
Uncertain significance |
15:23048829 |
NC_000015.9:g.(?_23048829)_(23052755_?)del |
NA |
Hereditary spastic paraplegia 6 | -37537 |
Uncertain significance |
15:23048891 |
NM_144599.5(NIPA1):c.928G>A (p.Val310Met) |
rs1162539945 |
Hereditary spastic paraplegia 6 | -37475 |
Uncertain significance |
15:23048913 |
NM_144599.5(NIPA1):c.906C>T (p.Ser302=) |
rs147070285 |
not specified|Hereditary spastic paraplegia 6 | -37453 |
Benign/Likely benign |
15:23048922 |
NM_144599.5(NIPA1):c.897G>T (p.Thr299=) |
rs368507906 |
not provided | -37444 |
Likely benign |
15:23048922 |
NM_144599.5(NIPA1):c.897G>A (p.Thr299=) |
NA |
not provided | -37444 |
Likely benign |
15:23048923 |
NM_144599.5(NIPA1):c.896C>T (p.Thr299Met) |
rs756976675 |
not provided | -37443 |
Uncertain significance |
15:23048925 |
NM_144599.5(NIPA1):c.894C>T (p.Phe298=) |
rs1555374032 |
Hereditary spastic paraplegia 6 | -37441 |
Likely benign |
15:23048948 |
NM_144599.5(NIPA1):c.871T>C (p.Phe291Leu) |
rs779693743 |
Hereditary spastic paraplegia 6|not provided | -37418 |
Uncertain significance |
15:23048955 |
NM_144599.5(NIPA1):c.864G>T (p.Leu288=) |
NA |
Hereditary spastic paraplegia 6 | -37411 |
Likely benign |
15:23048963 |
NM_144599.5(NIPA1):c.856G>A (p.Val286Met) |
NA |
Hereditary spastic paraplegia 6 | -37403 |
Uncertain significance |
15:23048978 |
NM_144599.5(NIPA1):c.841C>T (p.Arg281Trp) |
NA |
Hereditary spastic paraplegia 6 | -37388 |
Uncertain significance |
15:23048982 |
NM_144599.5(NIPA1):c.837C>A (p.Leu279=) |
rs376319442 |
not provided | -37384 |
Likely benign |
15:23048982 |
NM_144599.5(NIPA1):c.837C>T (p.Leu279=) |
NA |
Hereditary spastic paraplegia 6 | -37384 |
Likely benign |
15:23049009 |
NM_144599.5(NIPA1):c.810G>A (p.Thr270=) |
rs138394129 |
Hereditary spastic paraplegia 6 | -37357 |
Likely benign |
15:23049013 |
NM_144599.5(NIPA1):c.806C>T (p.Thr269Ile) |
NA |
Hereditary spastic paraplegia 6 | -37353 |
Uncertain significance |
15:23049018 |
NM_144599.5(NIPA1):c.801G>T (p.Val267=) |
rs185222838 |
Hereditary spastic paraplegia 6 | -37348 |
Benign |
15:23049021 |
NM_144599.5(NIPA1):c.798C>T (p.Val266=) |
rs1008907564 |
not specified|Hereditary spastic paraplegia | -37345 |
Conflicting interpretations of pathogenicity |
15:23049045 |
NM_144599.5(NIPA1):c.774G>T (p.Ser258=) |
rs371993191 |
Hereditary spastic paraplegia 6 | -37321 |
Likely benign |
15:23049045 |
NM_144599.5(NIPA1):c.774G>A (p.Ser258=) |
rs371993191 |
Hereditary spastic paraplegia 6 | -37321 |
Likely benign |
15:23049054 |
NM_144599.5(NIPA1):c.765C>T (p.Phe255=) |
NA |
Hereditary spastic paraplegia 6 | -37312 |
Likely benign |
15:23049060 |
NM_144599.5(NIPA1):c.759G>A (p.Glu253=) |
rs781769053 |
not provided|Hereditary spastic paraplegia 6 | -37306 |
Likely benign |
15:23049066 |
NM_144599.5(NIPA1):c.753G>C (p.Ala251=) |
rs199718530 |
Hereditary spastic paraplegia 6|not provided | -37300 |
Conflicting interpretations of pathogenicity |
15:23049071 |
NM_144599.5(NIPA1):c.748A>C (p.Lys250Gln) |
NA |
Hereditary spastic paraplegia 6 | -37295 |
Uncertain significance |
15:23049073 |
NM_144599.5(NIPA1):c.746A>G (p.Asn249Ser) |
rs780114915 |
not specified | -37293 |
Uncertain significance |
15:23049073 |
NM_144599.5(NIPA1):c.746A>G (p.Asn249Ser) |
rs780114915 |
not specified | -37293 |
Uncertain significance |
15:23049088 |
NM_144599.5(NIPA1):c.731A>G (p.Gln244Arg) |
rs1895598333 |
Hereditary spastic paraplegia 6 | -37278 |
Pathogenic |
15:23049092 |
NM_144599.5(NIPA1):c.727G>C (p.Val243Leu) |
NA |
Hereditary spastic paraplegia 6 | -37274 |
Uncertain significance |
15:23049093 |
NM_144599.5(NIPA1):c.726C>T (p.Ile242=) |
NA |
Hereditary spastic paraplegia 6 | -37273 |
Likely benign |
15:23049108 |
NM_144599.5(NIPA1):c.711C>T (p.Leu237=) |
NA |
Hereditary spastic paraplegia 6 | -37258 |
Likely benign |
15:23049138 |
NM_144599.5(NIPA1):c.681C>T (p.Leu227=) |
rs200282898 |
not provided|Hereditary spastic paraplegia 6|Hereditary spastic paraplegia | -37228 |
Conflicting interpretations of pathogenicity |
15:23049157 |
NM_144599.5(NIPA1):c.662C>T (p.Pro221Leu) |
rs781753198 |
Hereditary spastic paraplegia 6 | -37209 |
Uncertain significance |
15:23049177 |
NM_144599.5(NIPA1):c.642A>C (p.Gln214His) |
NA |
Hereditary spastic paraplegia 6 | -37189 |
Uncertain significance |
15:23049183 |
NM_144599.5(NIPA1):c.636G>A (p.Ala212=) |
NA |
Hereditary spastic paraplegia | -37183 |
Uncertain significance |
15:23049192 |
NM_144599.5(NIPA1):c.627C>T (p.Ile209=) |
rs759267223 |
not provided | -37174 |
Likely benign |
15:23049282 |
NM_144599.5(NIPA1):c.537C>T (p.Ile179=) |
rs547634456 |
Spastic paraplegia, autosomal dominant|Hereditary spastic paraplegia 6|not provided | -37084 |
Benign/Likely benign |
15:23049294 |
NM_144599.5(NIPA1):c.525C>T (p.Leu175=) |
rs769522060 |
not provided|Hereditary spastic paraplegia 6 | -37072 |
Likely benign |
15:23049308 |
NM_144599.5(NIPA1):c.511A>G (p.Met171Val) |
NA |
not provided | -37058 |
Uncertain significance |
15:23049308 |
NM_144599.5(NIPA1):c.511A>T (p.Met171Leu) |
NA |
Hereditary spastic paraplegia 6 | -37058 |
Uncertain significance |
15:23049311 |
NM_144599.5(NIPA1):c.508C>G (p.Leu170Val) |
rs1895592461 |
Hereditary spastic paraplegia 6 | -37055 |
Benign |
15:23049336 |
NM_144599.5(NIPA1):c.483T>G (p.Phe161Leu) |
NA |
See cases | -37030 |
Uncertain significance |
15:23049347 |
NM_144599.5(NIPA1):c.479-7G>T |
NA |
Hereditary spastic paraplegia | -37019 |
Uncertain significance |
15:23049347 |
NM_144599.5(NIPA1):c.479-7G>A |
NA |
Hereditary spastic paraplegia 6 | -37019 |
Likely benign |
15:23049349 |
NM_144599.5(NIPA1):c.479-9G>A |
rs1566789035 |
Hereditary spastic paraplegia 6 | -37017 |
Uncertain significance |
15:23049351 |
NM_144599.5(NIPA1):c.479-11C>T |
NA |
Hereditary spastic paraplegia 6 | -37015 |
Likely benign |
15:23049360 |
NM_144599.5(NIPA1):c.479-20G>C |
NA |
Hereditary spastic paraplegia 6 | -37006 |
Likely benign |
15:23049369 |
NM_144599.5(NIPA1):c.479-29C>T |
rs12592629 |
not provided | -36997 |
Benign |
15:23049579 |
NM_144599.5(NIPA1):c.479-239C>T |
rs61656257 |
not provided | -36787 |
Benign |
15:23049618 |
NM_144599.5(NIPA1):c.479-278T>C |
NA |
not provided | -36748 |
Likely benign |
15:23052358 |
NM_144599.5(NIPA1):c.478+232_478+237del |
NA |
not provided | -34008 |
Benign |
15:23052375 |
NM_144599.5(NIPA1):c.478+220C>T |
NA |
not provided | -33991 |
Likely benign |
15:23052441 |
NM_144599.5(NIPA1):c.478+154C>T |
NA |
not provided | -33925 |
Benign |
15:23052596 |
NM_144599.5(NIPA1):c.477A>G (p.Pro159=) |
NA |
Hereditary spastic paraplegia 6 | -33770 |
Uncertain significance |
15:23052625 |
NM_144599.5(NIPA1):c.448G>T (p.Ala150Ser) |
rs376665085 |
Hereditary spastic paraplegia 6 | -33741 |
Likely benign |
15:23052632 |
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) |
rs11263683 |
not specified|Hereditary spastic paraplegia 6|Hereditary spastic paraplegia | -33734 |
Benign |
15:23052632 |
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) |
rs11263683 |
not specified|Hereditary spastic paraplegia 6|Hereditary spastic paraplegia | -33734 |
Benign |
15:23052646 |
NM_144599.5(NIPA1):c.427T>G (p.Ser143Ala) |
rs886051008 |
Hereditary spastic paraplegia 6 | -33720 |
Uncertain significance |
15:23052656 |
NM_144599.5(NIPA1):c.417C>T (p.His139=) |
NA |
Hereditary spastic paraplegia 6 | -33710 |
Likely benign |
15:23052662 |
NM_144599.5(NIPA1):c.411T>C (p.Ile137=) |
NA |
Hereditary spastic paraplegia 6 | -33704 |
Likely benign |
15:23052670 |
NM_144599.5(NIPA1):c.403G>A (p.Val135Met) |
rs763295984 |
Hereditary spastic paraplegia 6 | -33696 |
Conflicting interpretations of pathogenicity |
15:23052674 |
NM_144599.5(NIPA1):c.399C>T (p.Ser133=) |
NA |
Hereditary spastic paraplegia 6 | -33692 |
Likely benign |
15:23052734 |
NM_144599.5(NIPA1):c.339C>T (p.Leu113=) |
rs754979501 |
not provided | -33632 |
Likely benign |
15:23052749 |
NM_144599.5(NIPA1):c.324T>C (p.Ile108=) |
NA |
Hereditary spastic paraplegia 6 | -33617 |
Likely benign |
15:23052770 |
NM_144599.5(NIPA1):c.318-15C>T |
rs1555373770 |
not specified | -33596 |
Likely benign |
15:23052823 |
NM_144599.5(NIPA1):c.318-68A>G |
NA |
not provided | -33543 |
Benign |
15:23060541 |
NM_144599.5(NIPA1):c.317+274C>G |
NA |
not provided | -25825 |
Likely benign |
15:23060599 |
NM_144599.5(NIPA1):c.317+216T>C |
NA |
not provided | -25767 |
Benign |
15:23060617 |
NM_144599.5(NIPA1):c.317+198A>G |
NA |
not provided | -25749 |
Likely benign |
15:23060625 |
NM_144599.5(NIPA1):c.317+190C>G |
rs7168401 |
not provided | -25741 |
Benign |
15:23060795 |
NC_000015.10:g.(?_22786637)_(22812273_?)del |
NA |
Hereditary spastic paraplegia 6 | -25571 |
Uncertain significance |
15:23060802 |
NM_144599.5(NIPA1):c.317+13A>G |
NA |
Hereditary spastic paraplegia 6 | -25564 |
Likely benign |
15:23060816 |
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) |
rs104894490 |
Hereditary spastic paraplegia 6|Hereditary spastic paraplegia|not provided|Spastic paraplegia | -25550 |
Pathogenic |
15:23060816 |
NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg) |
rs104894490 |
Hereditary spastic paraplegia 6 | -25550 |
Pathogenic |
15:23060816 |
NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg) |
rs104894490 |
Hereditary spastic paraplegia 6 | -25550 |
Pathogenic |
15:23060816 |
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) |
rs104894490 |
Hereditary spastic paraplegia 6|Hereditary spastic paraplegia|not provided|Spastic paraplegia | -25550 |
Pathogenic |
15:23060817 |
NM_144599.5(NIPA1):c.315C>T (p.Phe105=) |
rs373273269 |
not specified|Hereditary spastic paraplegia 6 | -25549 |
Conflicting interpretations of pathogenicity |
15:23060820 |
NM_144599.5(NIPA1):c.312G>A (p.Pro104=) |
rs139372534 |
not specified|not provided|Hereditary spastic paraplegia 6|Hereditary spastic paraplegia | -25546 |
Conflicting interpretations of pathogenicity |
15:23060833 |
NM_144599.5(NIPA1):c.299C>T (p.Ala100Val) |
rs1356799862 |
Hereditary spastic paraplegia 6 | -25533 |
Uncertain significance |
15:23060840 |
NM_144599.5(NIPA1):c.292C>A (p.Leu98Met) |
NA |
Hereditary spastic paraplegia 6 | -25526 |
Uncertain significance |
15:23060840 |
NM_144599.5(NIPA1):c.292C>T (p.Leu98=) |
NA |
Hereditary spastic paraplegia 6 | -25526 |
Likely benign |
15:23060841 |
NM_144599.5(NIPA1):c.291C>G (p.Pro97=) |
rs199818530 |
Hereditary spastic paraplegia 6 | -25525 |
Likely benign |
15:23060841 |
NM_144599.5(NIPA1):c.291C>A (p.Pro97=) |
rs199818530 |
Hereditary spastic paraplegia 6 | -25525 |
Likely benign |
15:23060841 |
NM_144599.5(NIPA1):c.291C>T (p.Pro97=) |
NA |
Hereditary spastic paraplegia 6 | -25525 |
Likely benign |
15:23060857 |
NM_144599.5(NIPA1):c.275C>T (p.Thr92Met) |
NA |
Hereditary spastic paraplegia 6 | -25509 |
Uncertain significance |
15:23060865 |
NM_144599.5(NIPA1):c.267G>A (p.Ala89=) |
rs751391752 |
Hereditary spastic paraplegia 6 | -25501 |
Uncertain significance |
15:23060866 |
NM_144599.5(NIPA1):c.266C>T (p.Ala89Val) |
rs548931873 |
not provided | -25500 |
Conflicting interpretations of pathogenicity |
15:23060869 |
NM_144599.5(NIPA1):c.263C>T (p.Thr88Met) |
rs755718518 |
Hereditary spastic paraplegia 6 | -25497 |
Uncertain significance |
15:23060890 |
NM_144599.5(NIPA1):c.242T>C (p.Ile81Thr) |
rs750364669 |
Hereditary spastic paraplegia 6 | -25476 |
Uncertain significance |
15:23060998 |
NM_144599.5(NIPA1):c.227-93C>T |
rs74003090 |
not provided | -25368 |
Benign |
15:23062109 |
NM_144599.5(NIPA1):c.226+163C>T |
NA |
not provided | -24257 |
Benign |
15:23062276 |
NM_144599.5(NIPA1):c.222C>G (p.Ile74Met) |
rs778472114 |
Hereditary spastic paraplegia 6 | -24090 |
Uncertain significance |
15:23062276 |
NM_144599.5(NIPA1):c.222C>T (p.Ile74=) |
NA |
Hereditary spastic paraplegia | -24090 |
Uncertain significance |
15:23062324 |
NM_144599.5(NIPA1):c.179-5T>C |
NA |
Hereditary spastic paraplegia 6 | -24042 |
Uncertain significance |
15:23062369 |
NM_144599.5(NIPA1):c.179-50C>T |
NA |
not provided | -23997 |
Likely benign |
15:23062531 |
NM_144599.5(NIPA1):c.179-212G>C |
NA |
not provided | -23835 |
Likely benign |
15:23077857 |
NC_000015.9:g.23077857_23114374del |
NA |
Small for gestational age | -8509 |
not provided |
15:23077857 |
NC_000015.9:g.23077857_23114374del |
NA |
Small for gestational age | -8509 |
not provided |
15:23084443 |
NC_000015.9:g.23084443_23114374del |
NA |
Preeclampsia | -1923 |
not provided |
15:23084443 |
NC_000015.9:g.23084443_23114374del |
NA |
Preeclampsia | -1923 |
not provided |
15:23085981 |
NM_144599.5(NIPA1):c.178+253G>T |
NA |
not provided | -385 |
Benign |
15:23086123 |
NM_144599.5(NIPA1):c.178+111C>G |
NA |
not provided | -243 |
Benign |
15:23086182 |
NM_144599.5(NIPA1):c.178+52C>T |
NA |
not provided | -184 |
Likely benign |
15:23086214 |
NC_000015.9:g.(?_23086214)_(23086411_?)dup |
NA |
Hereditary spastic paraplegia 6 | -152 |
Benign |
15:23086225 |
NM_144599.5(NIPA1):c.178+9G>A |
rs1259857257 |
Hereditary spastic paraplegia 6 | -141 |
Uncertain significance |
15:23086252 |
NM_144599.5(NIPA1):c.160G>C (p.Val54Leu) |
NA |
not provided | -114 |
Uncertain significance |
15:23086258 |
NM_144599.5(NIPA1):c.154G>A (p.Gly52Ser) |
NA |
Hereditary spastic paraplegia 6 | -108 |
Uncertain significance |
15:23086262 |
NM_144599.5(NIPA1):c.150G>A (p.Lys50=) |
rs749385624 |
Hereditary spastic paraplegia 6 | -104 |
Uncertain significance |
15:23086278 |
NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg) |
rs104894496 |
Hereditary spastic paraplegia 6 | -88 |
Pathogenic |
15:23086278 |
NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg) |
rs104894496 |
Hereditary spastic paraplegia 6 | -88 |
Pathogenic |
15:23086282 |
NM_144599.5(NIPA1):c.130T>G (p.Ser44Ala) |
rs1595626779 |
Hereditary spastic paraplegia 6 | -84 |
Uncertain significance |
15:23086291 |
NM_144599.5(NIPA1):c.121G>A (p.Val41Met) |
NA |
Hereditary spastic paraplegia 6 | -75 |
Uncertain significance |
15:23086292 |
NM_144599.5(NIPA1):c.120G>C (p.Leu40=) |
rs1369223854 |
not provided | -74 |
Likely benign |
15:23086303 |
NM_144599.5(NIPA1):c.109G>A (p.Val37Met) |
NA |
Spastic paraplegia | -63 |
Uncertain significance |
15:23086306 |
NM_144599.5(NIPA1):c.106G>T (p.Val36Phe) |
rs772941328 |
Hereditary spastic paraplegia 6 | -60 |
Uncertain significance |
15:23086313 |
NM_144599.5(NIPA1):c.99C>T (p.Gly33=) |
rs1370367415 |
Hereditary spastic paraplegia 6 | -53 |
Uncertain significance |
15:23086322 |
NM_144599.5(NIPA1):c.90C>G (p.Leu30=) |
NA |
Hereditary spastic paraplegia 6 | -44 |
Likely benign |
15:23086341 |
NM_144599.5(NIPA1):c.71G>C (p.Ser24Thr) |
rs1131692016 |
not provided | -25 |
Uncertain significance |
15:23086361 |
NM_144599.5(NIPA1):c.51G>C (p.Gly17=) |
rs1252900673 |
not provided|Hereditary spastic paraplegia 6 | -5 |
Likely benign |
15:23086363 |
NM_144599.5(NIPA1):c.49G>A (p.Gly17Arg) |
rs780312828 |
Hereditary spastic paraplegia 6 | -3 |
Uncertain significance |
15:23086364 |
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) |
rs531550505 |
not specified|Hereditary spastic paraplegia 6|Spastic paraplegia, autosomal dominant|Hereditary spastic paraplegia|not provided | -2 |
Conflicting interpretations of pathogenicity |
15:23086364 |
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) |
rs531550505 |
Hereditary spastic paraplegia 6|not specified|not provided|Hereditary spastic paraplegia | -2 |
Benign/Likely benign |
15:23086364 |
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) |
rs531550505 |
not specified|Hereditary spastic paraplegia 6|Spastic paraplegia, autosomal dominant|Hereditary spastic paraplegia|not provided | -2 |
Conflicting interpretations of pathogenicity |
15:23086364 |
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) |
rs531550505 |
Hereditary spastic paraplegia 6|not specified|not provided|Hereditary spastic paraplegia | -2 |
Benign/Likely benign |
15:23086364 |
NM_144599.5(NIPA1):c.24GGC[11] (p.Ala14_Ala16dup) |
rs531550505 |
Hereditary spastic paraplegia 6|not provided|Hereditary spastic paraplegia | -2 |
Conflicting interpretations of pathogenicity |
15:23086364 |
NM_144599.5(NIPA1):c.24GGC[12] (p.Ala13_Ala16dup) |
rs531550505 |
Hereditary spastic paraplegia 6 | -2 |
Uncertain significance |
15:23086364 |
NM_144599.5(NIPA1):c.24GGC[21] (p.Ala4_Ala16dup) |
rs531550505 |
Amyotrophic lateral sclerosis | -2 |
risk factor |
15:23086365 |
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) |
rs531550505 |
not specified|Hereditary spastic paraplegia 6|Spastic paraplegia, autosomal dominant|not provided | -1 |
Benign/Likely benign |
15:23086365 |
NM_144599.5(NIPA1):c.24GGC[5] (p.Ala14_Ala16del) |
rs531550505 |
Hereditary spastic paraplegia 6|not provided | -1 |
Benign/Likely benign |
15:23086365 |
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) |
rs531550505 |
not specified|Hereditary spastic paraplegia 6|Spastic paraplegia, autosomal dominant|not provided | -1 |
Benign/Likely benign |
15:23086365 |
NM_144599.5(NIPA1):c.24GGC[5] (p.Ala14_Ala16del) |
rs531550505 |
Hereditary spastic paraplegia 6|not provided | -1 |
Benign/Likely benign |
15:23086365 |
NM_144599.5(NIPA1):c.24GGC[6] (p.Ala15_Ala16del) |
rs531550505 |
Hereditary spastic paraplegia 6|not specified|not provided | -1 |
Likely benign |
15:23086365 |
NM_144599.5(NIPA1):c.24GGC[3] (p.Ala12_Ala16del) |
rs531550505 |
Hereditary spastic paraplegia 6 | -1 |
Uncertain significance |
15:23086365 |
NM_144599.5(NIPA1):c.24GGC[4] (p.Ala13_Ala16del) |
rs531550505 |
not provided|Hereditary spastic paraplegia 6 | -1 |
Conflicting interpretations of pathogenicity |
15:23086367 |
NM_144599.5(NIPA1):c.45G>A (p.Ala15=) |
rs1555371616 |
Hereditary spastic paraplegia 6 | 1 |
Likely benign |
15:23086368 |
NM_144599.5(NIPA1):c.44C>G (p.Ala15Gly) |
NA |
Hereditary spastic paraplegia 6 | 2 |
Uncertain significance |
15:23086371 |
NM_144599.5(NIPA1):c.41C>G (p.Ala14Gly) |
rs864309628 |
not specified | 5 |
Uncertain significance |
15:23086371 |
NM_144599.5(NIPA1):c.41C>G (p.Ala14Gly) |
rs864309628 |
not specified | 5 |
Uncertain significance |
15:23086372 |
NM_144599.5(NIPA1):c.40G>A (p.Ala14Thr) |
NA |
Hereditary spastic paraplegia 6 | 6 |
Uncertain significance |
15:23086383 |
NM_144599.5(NIPA1):c.29C>T (p.Ala10Val) |
NA |
not provided | 17 |
Uncertain significance |
15:23086383 |
NM_144599.5(NIPA1):c.21_29del (p.Ala14_Ala16del) |
NA |
Hereditary spastic paraplegia 6 | 17 |
Uncertain significance |
15:23086385 |
NM_144599.5(NIPA1):c.21_26dup (p.Ala15_Ala16dup) |
NA |
Hereditary spastic paraplegia 6 | 19 |
Uncertain significance |
15:23086386 |
NM_144599.5(NIPA1):c.21_26del (p.Ala15_Ala16del) |
rs1555371600 |
Hereditary spastic paraplegia 6|Hereditary spastic paraplegia | 20 |
Conflicting interpretations of pathogenicity |
15:23086389 |
NM_144599.5(NIPA1):c.21_23del (p.Ala16del) |
rs769916931 |
Hereditary spastic paraplegia 6|not provided|Hereditary spastic paraplegia | 23 |
Benign/Likely benign |
15:23086389 |
NM_144599.5(NIPA1):c.15_23del (p.Ala14_Ala16del) |
rs1204568027 |
Hereditary spastic paraplegia 6 | 23 |
Uncertain significance |
15:23086391 |
NM_144599.5(NIPA1):c.21A>G (p.Ala7=) |
rs749414711 |
Hereditary spastic paraplegia 6|not provided|Hereditary spastic paraplegia | 25 |
Conflicting interpretations of pathogenicity |
15:23086392 |
NM_144599.5(NIPA1):c.20C>T (p.Ala7Val) |
NA |
Hereditary spastic paraplegia 6 | 26 |
Uncertain significance |
15:23086393 |
NM_144599.5(NIPA1):c.19G>A (p.Ala7Thr) |
NA |
Hereditary spastic paraplegia 6 | 27 |
Uncertain significance |
15:23086395 |
NM_144599.5(NIPA1):c.17C>G (p.Ala6Gly) |
rs944860201 |
not specified|not provided | 29 |
Conflicting interpretations of pathogenicity |
15:23086395 |
NM_144599.5(NIPA1):c.12_17del (p.Ala15_Ala16del) |
rs1192699698 |
Hereditary spastic paraplegia 6 | 29 |
Uncertain significance |
15:23086395 |
NM_144599.5(NIPA1):c.17C>A (p.Ala6Glu) |
rs944860201 |
Hereditary spastic paraplegia 6 | 29 |
Uncertain significance |
15:23086399 |
NM_144599.5(NIPA1):c.13G>T (p.Ala5Ser) |
rs976686334 |
not provided | 33 |
Uncertain significance |
15:23086401 |
NM_144599.5(NIPA1):c.11C>T (p.Ala4Val) |
NA |
Hereditary spastic paraplegia | 35 |
Uncertain significance |
15:23086404 |
NM_144599.5(NIPA1):c.8C>T (p.Thr3Ile) |
rs1361753522 |
Hereditary spastic paraplegia 6 | 38 |
Uncertain significance |
15:23086411 |
NM_144599.5(NIPA1):c.1A>G (p.Met1Val) |
rs1310579113 |
Hereditary spastic paraplegia 6 | 45 |
Uncertain significance |
15:23086430 |
NM_001142275.1(NIPA1):c.-48+390G>A |
rs886051009 |
Spastic paraplegia, autosomal dominant | 64 |
Uncertain significance |
15:23086620 |
NM_001142275.1(NIPA1):c.-48+200del |
NA |
not provided | 254 |
Benign |
15:23086706 |
NM_001142275.1(NIPA1):c.-48+114G>C |
NA |
not provided | 340 |
Likely benign |
15:23086770 |
NM_001142275.1(NIPA1):c.-48+50C>G |
rs62001112 |
not provided | 404 |
Benign |
15:23091388 |
GRCh37/hg19 15q11.2(chr15:23091388-23102905)x1 |
NA |
not provided | 5022 |
Benign |
15:23096921 |
GRCh37/hg19 15q11.2(chr15:23096921-23110862)x1 |
NA |
not provided | 10555 |
Benign |
15:23109890 |
GRCh37/hg19 15q11.2-13.1(chr15:23109890-29085893)x3 |
NA |
not provided | 23524 |
Likely pathogenic |