| 12895768 | CV389608 | single nucleotide variant | NM_002295.6(RPSA):c.-8T>C | Familial isolated congenital asplenia [RCV001796057]|not provided [RCV004708903]|not specified [RCV000454424] | benign | 3 | 39407646 | 39407646 | Human | 1 | name |
| 151860320 | CV1344173 | single nucleotide variant | NM_002295.6(RPSA):c.628-3C>G | not provided [RCV002034284] | uncertain significance | 3 | 39411893 | 39411893 | Human | | name |
| 152111708 | CV1552586 | duplication | NM_002295.6(RPSA):c.628-8dup | not provided [RCV002134568] | likely benign | 3 | 39411887 | 39411888 | Human | | name |
| 152126064 | CV1665875 | single nucleotide variant | NM_002295.6(RPSA):c.498+7A>G | not provided [RCV002198688] | likely benign | 3 | 39411006 | 39411006 | Human | | name |
| 156154091 | CV1926070 | single nucleotide variant | NM_002295.6(RPSA):c.627+4A>G | RPSA-related disorder [RCV003953943]|not provided [RCV002624113] | likely benign|uncertain significance | 3 | 39411781 | 39411781 | Human | 1 | name , trait , alternate_id |
| 156108732 | CV2008518 | single nucleotide variant | NM_002295.6(RPSA):c.793+7A>G | not provided [RCV002695582] | likely benign | 3 | 39412068 | 39412068 | Human | | name |
| 155996904 | CV2152795 | single nucleotide variant | NM_002295.6(RPSA):c.134-7C>T | not provided [RCV002996831] | likely benign | 3 | 39408599 | 39408599 | Human | | name |
| 156331485 | CV2188004 | duplication | NM_002295.6(RPSA):c.628-9dup | not provided [RCV003063723] | likely benign | 3 | 39411886 | 39411887 | Human | | name |
| 402482200 | CV3036497 | single nucleotide variant | NM_002295.6(RPSA):c.628-3C>T | not provided [RCV003712967] | uncertain significance | 3 | 39411893 | 39411893 | Human | | name |
| 405138713 | CV3045338 | single nucleotide variant | NM_002295.6(RPSA):c.627+3A>G | not provided [RCV003725463] | uncertain significance | 3 | 39411780 | 39411780 | Human | | name |
| 404977650 | CV3127245 | single nucleotide variant | NM_002295.6(RPSA):c.793+5G>A | not provided [RCV003825468] | uncertain significance | 3 | 39412066 | 39412066 | Human | | name |
| 405064711 | CV3148495 | single nucleotide variant | NM_002295.6(RPSA):c.133+8A>G | not provided [RCV003850451] | uncertain significance | 3 | 39407794 | 39407794 | Human | | name |
| 597844583 | CV3774875 | duplication | NM_002295.6(RPSA):c.134-6dup | not provided [RCV005119972] | likely benign | 3 | 39408599 | 39408600 | Human | | name |
| 597857753 | CV3793535 | single nucleotide variant | NM_002295.6(RPSA):c.499-6T>C | not provided [RCV005132191] | likely benign | 3 | 39411643 | 39411643 | Human | | name |
| 597864359 | CV3794721 | single nucleotide variant | NM_002295.6(RPSA):c.794-7T>G | not provided [RCV005138626] | uncertain significance | 3 | 39412267 | 39412267 | Human | | name |
| 597861626 | CV3797872 | single nucleotide variant | NM_002295.6(RPSA):c.499-9T>C | not provided [RCV005135866] | likely benign | 3 | 39411640 | 39411640 | Human | | name |
| 597887469 | CV3814353 | single nucleotide variant | NM_002295.6(RPSA):c.498+6G>T | not provided [RCV005162684] | uncertain significance | 3 | 39411005 | 39411005 | Human | | name |
| 13484999 | CV443451 | single nucleotide variant | NM_002295.6(RPSA):c.498+3A>C | not specified [RCV000522485] | uncertain significance | 3 | 39411002 | 39411002 | Human | | name |
| 14399194 | CV614263 | single nucleotide variant | NM_002295.6(RPSA):c.498+8T>A | Familial isolated congenital asplenia [RCV000768301]|not provided [RCV002533943] | benign|uncertain significance | 3 | 39411007 | 39411007 | Human | 1 | name |
| 127290255 | CV1154472 | single nucleotide variant | NM_002295.6(RPSA):c.252+17T>C | not provided [RCV001509729] | benign | 3 | 39408741 | 39408741 | Human | | name |
| 127305388 | CV1154473 | duplication | NM_002295.6(RPSA):c.628-10dup | not provided [RCV001516258] | benign | 3 | 39411876 | 39411877 | Human | | name |
| 151235322 | CV1318594 | single nucleotide variant | NM_002295.6(RPSA):c.134-32C>T | Familial isolated congenital asplenia [RCV001794922]|not provided [RCV004709166] | benign | 3 | 39408574 | 39408574 | Human | 1 | name |
| 151806381 | CV1359664 | single nucleotide variant | NM_002295.6(RPSA):c.793+13A>G | not provided [RCV002028561] | likely benign|uncertain significance | 3 | 39412074 | 39412074 | Human | | name |
| 152133501 | CV1547194 | single nucleotide variant | NM_002295.6(RPSA):c.134-18C>T | not provided [RCV002155843] | likely benign | 3 | 39408588 | 39408588 | Human | | name |
| 152139421 | CV1560009 | single nucleotide variant | NM_002295.6(RPSA):c.253-16T>A | not provided [RCV002137979] | likely benign | 3 | 39410738 | 39410738 | Human | | name |
| 152083245 | CV1576765 | single nucleotide variant | NM_002295.6(RPSA):c.498+14G>T | not provided [RCV002193297] | likely benign | 3 | 39411013 | 39411013 | Human | | name |
| 152097841 | CV1611606 | single nucleotide variant | NM_002295.6(RPSA):c.627+17G>C | not provided [RCV002172705] | likely benign | 3 | 39411794 | 39411794 | Human | | name |
| 152151096 | CV1658692 | single nucleotide variant | NM_002295.6(RPSA):c.499-16C>T | not provided [RCV002139525] | likely benign | 3 | 39411633 | 39411633 | Human | | name |
| 155975643 | CV1971333 | single nucleotide variant | NM_002295.6(RPSA):c.252+16G>A | RPSA-related disorder [RCV004756408]|not provided [RCV002617376] | likely benign|uncertain significance | 3 | 39408740 | 39408740 | Human | 1 | name , trait , alternate_id |
| 156402406 | CV1988544 | single nucleotide variant | NM_002295.6(RPSA):c.628-17T>C | not provided [RCV002605732] | likely benign | 3 | 39411879 | 39411879 | Human | | name |
| 156170867 | CV2169907 | single nucleotide variant | NM_002295.6(RPSA):c.794-10C>G | not provided [RCV003023509] | likely benign | 3 | 39412264 | 39412264 | Human | | name |
| 156369685 | CV2170933 | single nucleotide variant | NM_002295.6(RPSA):c.134-14C>T | not provided [RCV003032131] | likely benign | 3 | 39408592 | 39408592 | Human | | name |
| 405076661 | CV2948658 | single nucleotide variant | NM_002295.6(RPSA):c.498+16T>C | not provided [RCV003664300] | likely benign | 3 | 39411015 | 39411015 | Human | | name |
| 405145367 | CV2949860 | single nucleotide variant | NM_002295.6(RPSA):c.627+11C>G | not provided [RCV003669623] | likely benign | 3 | 39411788 | 39411788 | Human | | name |
| 405231963 | CV2988401 | single nucleotide variant | NM_002295.6(RPSA):c.498+12A>G | not provided [RCV003711594] | likely benign | 3 | 39411011 | 39411011 | Human | | name |
| 405121509 | CV3131594 | single nucleotide variant | NM_002295.6(RPSA):c.793+10A>G | not provided [RCV003837458] | likely benign | 3 | 39412071 | 39412071 | Human | | name |
| 404985503 | CV3183780 | single nucleotide variant | NM_002295.6(RPSA):c.134-12G>C | not provided [RCV003881057] | likely benign | 3 | 39408594 | 39408594 | Human | | name |
| 597850938 | CV3746958 | deletion | NM_002295.6(RPSA):c.628-10del | not provided [RCV005060586] | benign | 3 | 39411877 | 39411877 | Human | | name |
| 597882727 | CV3807249 | single nucleotide variant | NM_002295.6(RPSA):c.252+10A>G | not provided [RCV005157820] | likely benign | 3 | 39408734 | 39408734 | Human | | name |
| 597880697 | CV3808054 | single nucleotide variant | NM_002295.6(RPSA):c.253-15T>G | not provided [RCV005155762] | likely benign | 3 | 39410739 | 39410739 | Human | | name |
| 597871427 | CV3816643 | single nucleotide variant | NM_002295.6(RPSA):c.252+16G>T | not provided [RCV005146216] | likely benign | 3 | 39408740 | 39408740 | Human | | name |
| 597899300 | CV3821603 | single nucleotide variant | NM_002295.6(RPSA):c.134-14C>G | not provided [RCV005174081] | likely benign | 3 | 39408592 | 39408592 | Human | | name |
| 15164365 | CV759260 | single nucleotide variant | NM_002295.6(RPSA):c.627+10T>C | not provided [RCV000926364] | likely benign | 3 | 39411787 | 39411787 | Human | | name |
| 152136366 | CV1634599 | single nucleotide variant | NM_002295.6(RPSA):c.22C>T (p.Leu8=) | not provided [RCV002218770] | likely benign | 3 | 39407675 | 39407675 | Human | | name |
| 152058114 | CV1532548 | deletion | NM_002295.6(RPSA):c.252+11_252+12del | not provided [RCV002208336] | likely benign | 3 | 39408734 | 39408735 | Human | | name |
| 152063926 | CV1612174 | deletion | NM_002295.6(RPSA):c.628-11_628-10del | not provided [RCV002128701] | benign | 3 | 39411877 | 39411878 | Human | | name |
| 152167491 | CV1644705 | deletion | NM_002295.6(RPSA):c.252+12_252+13del | not provided [RCV002142175] | likely benign | 3 | 39408736 | 39408737 | Human | | name |
| 152172760 | CV1652692 | deletion | NM_002295.6(RPSA):c.253-15_253-14del | not provided [RCV002143885] | likely benign | 3 | 39410737 | 39410738 | Human | | name |
| 156047266 | CV2059898 | single nucleotide variant | NM_002295.6(RPSA):c.81C>T (p.Gly27=) | not provided [RCV002796647] | likely benign | 3 | 39407734 | 39407734 | Human | | name |
| 155989945 | CV2066754 | single nucleotide variant | NM_002295.6(RPSA):c.54C>T (p.Phe18=) | not provided [RCV002842916] | likely benign | 3 | 39407707 | 39407707 | Human | | name |
| 156214920 | CV2106997 | deletion | NM_002295.6(RPSA):c.498+21_498+34del | not provided [RCV002918321] | likely benign | 3 | 39411019 | 39411032 | Human | | name |
| 405069302 | CV3140212 | deletion | NM_002295.6(RPSA):c.499-15_499-13del | not provided [RCV003833367] | likely benign | 3 | 39411633 | 39411635 | Human | | name |
| 405237722 | CV3165365 | single nucleotide variant | NM_002295.6(RPSA):c.33G>A (p.Lys11=) | not provided [RCV003866567] | likely benign | 3 | 39407686 | 39407686 | Human | | name |
| 597969988 | CV3753479 | single nucleotide variant | NM_002295.6(RPSA):c.60A>G (p.Ala20=) | not provided [RCV005083964] | likely benign | 3 | 39407713 | 39407713 | Human | | name |
| 597886894 | CV3808941 | single nucleotide variant | NM_002295.6(RPSA):c.63A>G (p.Ala21=) | not provided [RCV005161859] | likely benign | 3 | 39407716 | 39407716 | Human | | name |
| 152140466 | CV1613854 | single nucleotide variant | NM_002295.6(RPSA):c.234C>T (p.Ser78=) | not provided [RCV002084086] | likely benign | 3 | 39408706 | 39408706 | Human | | name |
| 152158266 | CV1616106 | single nucleotide variant | NM_002295.6(RPSA):c.183A>C (p.Ala61=) | not provided [RCV002159169] | likely benign | 3 | 39408655 | 39408655 | Human | | name |
| 152122277 | CV1631814 | single nucleotide variant | NM_002295.6(RPSA):c.228T>C (p.Val76=) | not provided [RCV002117999] | benign|likely benign | 3 | 39408700 | 39408700 | Human | | name |
| 152058821 | CV1652094 | single nucleotide variant | NM_002295.6(RPSA):c.189T>A (p.Arg63=) | not provided [RCV002190280] | likely benign | 3 | 39408661 | 39408661 | Human | | name |
| 155911520 | CV2069540 | single nucleotide variant | NM_002295.6(RPSA):c.177G>C (p.Leu59=) | not provided [RCV002837755] | likely benign | 3 | 39408649 | 39408649 | Human | | name |
| 156073950 | CV2086401 | single nucleotide variant | NM_002295.6(RPSA):c.261G>T (p.Val87=) | not provided [RCV002847161] | likely benign | 3 | 39410762 | 39410762 | Human | | name |
| 597831993 | CV3740096 | single nucleotide variant | NM_002295.6(RPSA):c.213T>G (p.Pro71=) | not provided [RCV005062795] | likely benign | 3 | 39408685 | 39408685 | Human | | name |
| 597951404 | CV3756450 | single nucleotide variant | NM_002295.6(RPSA):c.129T>C (p.Ser43=) | not provided [RCV005079507] | likely benign | 3 | 39407782 | 39407782 | Human | | name |
| 597868398 | CV3790979 | single nucleotide variant | NM_002295.6(RPSA):c.273T>G (p.Ala91=) | not provided [RCV005143194] | likely benign | 3 | 39410774 | 39410774 | Human | | name |
| 8621602 | CV75606 | single nucleotide variant | NM_002295.6(RPSA):c.25C>T (p.Gln9Ter) | Familial isolated congenital asplenia [RCV000054822] | pathogenic | 3 | 39407678 | 39407678 | Human | 1 | name |
| 152168500 | CV1644334 | single nucleotide variant | NM_002295.6(RPSA):c.870A>G (p.Ala290=) | not provided [RCV002182466] | likely benign | 3 | 39412350 | 39412350 | Human | | name |
| 156413964 | CV1901165 | single nucleotide variant | NM_002295.6(RPSA):c.804C>T (p.Ser268=) | not provided [RCV002588333] | likely benign | 3 | 39412284 | 39412284 | Human | | name |
| 156094658 | CV1980836 | single nucleotide variant | NM_002295.6(RPSA):c.510A>G (p.Ser170=) | not provided [RCV002621985] | likely benign | 3 | 39411660 | 39411660 | Human | | name |
| 156394323 | CV2015664 | single nucleotide variant | NM_002295.6(RPSA):c.609C>T (p.Phe203=) | not provided [RCV002725379] | likely benign | 3 | 39411759 | 39411759 | Human | | name |
| 156120060 | CV2015892 | single nucleotide variant | NM_002295.6(RPSA):c.330C>T (p.Asn110=) | not provided [RCV002696002] | likely benign | 3 | 39410831 | 39410831 | Human | | name |
| 155940296 | CV2054908 | single nucleotide variant | NM_002295.6(RPSA):c.390C>T (p.Asp130=) | not provided [RCV002815648] | likely benign | 3 | 39410891 | 39410891 | Human | | name |
| 156147746 | CV2131035 | single nucleotide variant | NM_002295.6(RPSA):c.438G>A (p.Ala146=) | not provided [RCV002982543] | likely benign | 3 | 39410939 | 39410939 | Human | | name |
| 402491605 | CV2945703 | single nucleotide variant | NM_002295.6(RPSA):c.439C>T (p.Leu147=) | not provided [RCV003660598] | likely benign | 3 | 39410940 | 39410940 | Human | | name |
| 405072109 | CV2946578 | single nucleotide variant | NM_002295.6(RPSA):c.83C>T (p.Thr28Ile) | not provided [RCV003659402] | uncertain significance | 3 | 39407736 | 39407736 | Human | | name |
| 405218216 | CV2968664 | single nucleotide variant | NM_002295.6(RPSA):c.792T>C (p.Thr264=) | not provided [RCV003680304] | uncertain significance | 3 | 39412060 | 39412060 | Human | | name |
| 405244142 | CV2971907 | single nucleotide variant | NM_002295.6(RPSA):c.771G>T (p.Val257=) | not provided [RCV003684768] | likely benign | 3 | 39412039 | 39412039 | Human | | name |
| 405224579 | CV3058151 | single nucleotide variant | NM_002295.6(RPSA):c.756A>G (p.Val252=) | not provided [RCV003733824] | likely benign | 3 | 39412024 | 39412024 | Human | | name |
| 405004566 | CV3120777 | single nucleotide variant | NM_002295.6(RPSA):c.798C>T (p.Asp266=) | not provided [RCV003828380] | likely benign | 3 | 39412278 | 39412278 | Human | | name |
| 408384652 | CV3504521 | single nucleotide variant | NM_002295.6(RPSA):c.702C>T (p.Pro234=) | RPSA-related disorder [RCV004731988]|not provided [RCV005059792] | likely benign | 3 | 39411970 | 39411970 | Human | 1 | name , trait , alternate_id |
| 597836423 | CV3739863 | single nucleotide variant | NM_002295.6(RPSA):c.300T>G (p.Ala100=) | not provided [RCV005064083] | likely benign | 3 | 39410801 | 39410801 | Human | | name |
| 597854107 | CV3747575 | single nucleotide variant | NM_002295.6(RPSA):c.450A>G (p.Thr150=) | not provided [RCV005066586] | likely benign | 3 | 39410951 | 39410951 | Human | | name |
| 597962928 | CV3753821 | single nucleotide variant | NM_002295.6(RPSA):c.582A>G (p.Pro194=) | not provided [RCV005082125] | likely benign | 3 | 39411732 | 39411732 | Human | | name |
| 597841256 | CV3772626 | single nucleotide variant | NM_002295.6(RPSA):c.819G>A (p.Thr273=) | not provided [RCV005115776] | likely benign | 3 | 39412299 | 39412299 | Human | | name |
| 597855955 | CV3777473 | single nucleotide variant | NM_002295.6(RPSA):c.573T>C (p.Arg191=) | not provided [RCV005130402] | likely benign | 3 | 39411723 | 39411723 | Human | | name |
| 597860039 | CV3779499 | single nucleotide variant | NM_002295.6(RPSA):c.723T>C (p.Thr241=) | not provided [RCV005134463] | likely benign | 3 | 39411991 | 39411991 | Human | | name |
| 597869894 | CV3799247 | single nucleotide variant | NM_002295.6(RPSA):c.32A>G (p.Lys11Arg) | not provided [RCV005144643] | uncertain significance | 3 | 39407685 | 39407685 | Human | | name |
| 597879020 | CV3806668 | single nucleotide variant | NM_002295.6(RPSA):c.402C>T (p.Leu134=) | not provided [RCV005154235] | likely benign | 3 | 39410903 | 39410903 | Human | | name |
| 597894205 | CV3832283 | single nucleotide variant | NM_002295.6(RPSA):c.813T>C (p.Pro271=) | not provided [RCV005169020] | likely benign | 3 | 39412293 | 39412293 | Human | | name |
| 597925420 | CV3859461 | single nucleotide variant | NM_002295.6(RPSA):c.603G>A (p.Leu201=) | not provided [RCV005200117] | likely benign | 3 | 39411753 | 39411753 | Human | | name |
| 12896056 | CV389555 | single nucleotide variant | NM_002295.6(RPSA):c.519G>A (p.Leu173=) | Familial isolated congenital asplenia [RCV001796058]|not provided [RCV001517706]|not specified [RCV000454824] | benign | 3 | 39411669 | 39411669 | Human | 1 | name |
| 15127912 | CV781673 | single nucleotide variant | NM_002295.6(RPSA):c.315T>C (p.Pro105=) | RPSA-related disorder [RCV003918602]|not provided [RCV000980623] | benign|likely benign | 3 | 39410816 | 39410816 | Human | 1 | name , trait , alternate_id |
| 151850588 | CV1389821 | single nucleotide variant | NM_002295.6(RPSA):c.295A>G (p.Ile99Val) | not provided [RCV001937287] | uncertain significance | 3 | 39410796 | 39410796 | Human | | name |
| 151822577 | CV1466128 | single nucleotide variant | NM_002295.6(RPSA):c.245C>G (p.Thr82Ser) | not provided [RCV001879357] | uncertain significance | 3 | 39408717 | 39408717 | Human | | name |
| 151712630 | CV1489715 | single nucleotide variant | NM_002295.6(RPSA):c.196G>T (p.Val66Phe) | not provided [RCV001889688] | uncertain significance | 3 | 39408668 | 39408668 | Human | | name |
| 151758072 | CV1510563 | single nucleotide variant | NM_002295.6(RPSA):c.230T>C (p.Ile77Thr) | not provided [RCV001948829] | uncertain significance | 3 | 39408702 | 39408702 | Human | | name |
| 156091566 | CV1984109 | single nucleotide variant | NM_002295.6(RPSA):c.185C>G (p.Ala62Gly) | not provided [RCV002621877] | uncertain significance | 3 | 39408657 | 39408657 | Human | | name |
| 156374634 | CV2003904 | single nucleotide variant | NM_002295.6(RPSA):c.108G>C (p.Gln36His) | not provided [RCV002653192] | uncertain significance | 3 | 39407761 | 39407761 | Human | | name |
| 402507749 | CV2941718 | single nucleotide variant | NM_002295.6(RPSA):c.190G>A (p.Ala64Thr) | not provided [RCV003662239] | uncertain significance | 3 | 39408662 | 39408662 | Human | | name |
| 405115241 | CV2996307 | single nucleotide variant | NM_002295.6(RPSA):c.215C>T (p.Ala72Val) | not provided [RCV003723285] | uncertain significance | 3 | 39408687 | 39408687 | Human | | name |
| 405163290 | CV3017998 | single nucleotide variant | NM_002295.6(RPSA):c.103G>A (p.Glu35Lys) | not provided [RCV003704116] | uncertain significance | 3 | 39407756 | 39407756 | Human | | name |
| 405230294 | CV3153855 | single nucleotide variant | NM_002295.6(RPSA):c.193A>G (p.Ile65Val) | not provided [RCV003848722] | uncertain significance | 3 | 39408665 | 39408665 | Human | | name |
| 405739585 | CV3320350 | single nucleotide variant | NM_002295.6(RPSA):c.289A>G (p.Thr97Ala) | not specified [RCV004452171] | uncertain significance | 3 | 39410790 | 39410790 | Human | | name |
| 407513831 | CV3476264 | single nucleotide variant | NM_002295.6(RPSA):c.155A>G (p.Lys52Arg) | not specified [RCV004674263] | uncertain significance | 3 | 39408627 | 39408627 | Human | | name |
| 408383084 | CV3504696 | single nucleotide variant | NM_002295.6(RPSA):c.233C>A (p.Ser78Tyr) | RPSA-related disorder [RCV004730402] | uncertain significance | 3 | 39408705 | 39408705 | Human | | name , trait , alternate_id |
| 597845614 | CV3765593 | single nucleotide variant | NM_002295.6(RPSA):c.172C>G (p.Leu58Val) | not provided [RCV005121237] | uncertain significance | 3 | 39408644 | 39408644 | Human | | name |
| 597897715 | CV3827383 | single nucleotide variant | NM_002295.6(RPSA):c.272C>G (p.Ala91Gly) | not provided [RCV005172654] | uncertain significance | 3 | 39410773 | 39410773 | Human | | name |
| 13486658 | CV443450 | single nucleotide variant | NM_002295.6(RPSA):c.100A>G (p.Met34Val) | not provided [RCV000522981] | uncertain significance | 3 | 39407753 | 39407753 | Human | | name |
| 8621607 | CV75611 | single nucleotide variant | NM_002295.6(RPSA):c.161C>A (p.Thr54Asn) | Familial isolated congenital asplenia [RCV000054827] | pathogenic | 3 | 39408633 | 39408633 | Human | 1 | name |
| 8621608 | CV75612 | single nucleotide variant | NM_002295.6(RPSA):c.172C>T (p.Leu58Phe) | Familial isolated congenital asplenia [RCV000054828] | pathogenic | 3 | 39408644 | 39408644 | Human | 1 | name |
| 126757221 | CV989585 | single nucleotide variant | NM_002295.6(RPSA):c.161C>G (p.Thr54Ser) | not provided [RCV001298819] | uncertain significance | 3 | 39408633 | 39408633 | Human | | name |
| 151877365 | CV1342187 | single nucleotide variant | NM_002295.6(RPSA):c.404C>T (p.Thr135Met) | not provided [RCV001961210] | uncertain significance | 3 | 39410905 | 39410905 | Human | | name |
| 151815340 | CV1349332 | single nucleotide variant | NM_002295.6(RPSA):c.479C>T (p.Ala160Val) | not provided [RCV001919025] | uncertain significance | 3 | 39410980 | 39410980 | Human | | name |
| 151876342 | CV1372732 | single nucleotide variant | NM_002295.6(RPSA):c.433A>G (p.Ile145Val) | not provided [RCV002019584]|not specified [RCV005266096] | uncertain significance | 3 | 39410934 | 39410934 | Human | | name |
| 151827033 | CV1471864 | single nucleotide variant | NM_002295.6(RPSA):c.358C>G (p.Arg120Gly) | not provided [RCV002030429] | uncertain significance | 3 | 39410859 | 39410859 | Human | | name |
| 151715573 | CV1472628 | single nucleotide variant | NM_002295.6(RPSA):c.706C>T (p.Pro236Ser) | not provided [RCV002039278] | uncertain significance | 3 | 39411974 | 39411974 | Human | | name |
| 151741706 | CV1492590 | single nucleotide variant | NM_002295.6(RPSA):c.522G>A (p.Met174Ile) | not provided [RCV002042290] | uncertain significance | 3 | 39411672 | 39411672 | Human | | name |
| 155709642 | CV1772893 | single nucleotide variant | NM_002295.6(RPSA):c.467A>C (p.Tyr156Ser) | not provided [RCV002300517] | uncertain significance | 3 | 39410968 | 39410968 | Human | | name |
| 155704899 | CV1774908 | single nucleotide variant | NM_002295.6(RPSA):c.531G>C (p.Met177Ile) | not provided [RCV002300157] | uncertain significance | 3 | 39411681 | 39411681 | Human | | name |
| 156035844 | CV1921361 | single nucleotide variant | NM_002295.6(RPSA):c.463C>T (p.Arg155Cys) | not provided [RCV002620047] | uncertain significance | 3 | 39410964 | 39410964 | Human | | name |
| 156438797 | CV1943347 | single nucleotide variant | NM_002295.6(RPSA):c.841A>G (p.Thr281Ala) | not provided [RCV003108744] | uncertain significance | 3 | 39412321 | 39412321 | Human | | name |
| 156146413 | CV1954325 | single nucleotide variant | NM_002295.6(RPSA):c.464G>A (p.Arg155His) | not provided [RCV002572755] | uncertain significance | 3 | 39410965 | 39410965 | Human | | name |
| 156207217 | CV2110338 | single nucleotide variant | NM_002295.6(RPSA):c.413C>T (p.Ser138Phe) | not provided [RCV002957604] | uncertain significance | 3 | 39410914 | 39410914 | Human | | name |
| 156204443 | CV2401419 | single nucleotide variant | NM_002295.6(RPSA):c.491A>T (p.Asn164Ile) | Familial isolated congenital asplenia [RCV002789975] | uncertain significance | 3 | 39410992 | 39410992 | Human | 1 | name |
| 401913738 | CV2799665 | single nucleotide variant | NM_002295.6(RPSA):c.770T>G (p.Val257Gly) | RPSA-related disorder [RCV003427961] | uncertain significance | 3 | 39412038 | 39412038 | Human | | name , trait , alternate_id |
| 401940326 | CV2839179 | single nucleotide variant | NM_002295.6(RPSA):c.508T>G (p.Ser170Ala) | Familial isolated congenital asplenia [RCV003448737] | uncertain significance | 3 | 39411658 | 39411658 | Human | 1 | name |
| 405229440 | CV2977187 | single nucleotide variant | NM_002295.6(RPSA):c.569C>G (p.Ser190Cys) | not provided [RCV003711237] | uncertain significance | 3 | 39411719 | 39411719 | Human | | name |
| 405123612 | CV3126375 | single nucleotide variant | NM_002295.6(RPSA):c.821A>G (p.Glu274Gly) | not provided [RCV003815127] | uncertain significance | 3 | 39412301 | 39412301 | Human | | name |
| 405237254 | CV3166648 | single nucleotide variant | NM_002295.6(RPSA):c.571C>T (p.Arg191Cys) | not provided [RCV003854098]|not specified [RCV004661800] | uncertain significance | 3 | 39411721 | 39411721 | Human | | name |
| 405195544 | CV3167724 | single nucleotide variant | NM_002295.6(RPSA):c.772C>T (p.Pro258Ser) | not provided [RCV003860130] | uncertain significance | 3 | 39412040 | 39412040 | Human | | name |
| 407488260 | CV3476265 | single nucleotide variant | NM_002295.6(RPSA):c.791C>A (p.Thr264Asn) | not specified [RCV004665838] | uncertain significance | 3 | 39412059 | 39412059 | Human | | name |
| 596925504 | CV3530496 | single nucleotide variant | NM_002295.6(RPSA):c.557G>T (p.Arg186Leu) | not provided [RCV004778081] | uncertain significance | 3 | 39411707 | 39411707 | Human | | name |
| 597847355 | CV3768732 | single nucleotide variant | NM_002295.6(RPSA):c.541G>A (p.Glu181Lys) | not provided [RCV005122902] | uncertain significance | 3 | 39411691 | 39411691 | Human | | name |
| 597846730 | CV3784006 | single nucleotide variant | NM_002295.6(RPSA):c.865G>A (p.Gly289Arg) | not provided [RCV005122309] | uncertain significance | 3 | 39412345 | 39412345 | Human | | name |
| 597850853 | CV3785411 | single nucleotide variant | NM_002295.6(RPSA):c.350G>A (p.Arg117Gln) | not provided [RCV005125997] | uncertain significance | 3 | 39410851 | 39410851 | Human | | name |
| 597870438 | CV3793018 | single nucleotide variant | NM_002295.6(RPSA):c.845C>G (p.Ala282Gly) | not provided [RCV005145154] | uncertain significance | 3 | 39412325 | 39412325 | Human | | name |
| 597865489 | CV3797063 | single nucleotide variant | NM_002295.6(RPSA):c.494A>G (p.Asn165Ser) | not provided [RCV005140023] | uncertain significance | 3 | 39410995 | 39410995 | Human | | name |
| 597887441 | CV3814326 | single nucleotide variant | NM_002295.6(RPSA):c.868G>A (p.Ala290Thr) | not provided [RCV005162657] | uncertain significance | 3 | 39412348 | 39412348 | Human | | name |
| 597896866 | CV3824952 | single nucleotide variant | NM_002295.6(RPSA):c.764C>T (p.Pro255Leu) | not provided [RCV005171816] | uncertain significance | 3 | 39412032 | 39412032 | Human | | name |
| 597892400 | CV3829509 | single nucleotide variant | NM_002295.6(RPSA):c.479C>G (p.Ala160Gly) | not provided [RCV005167296] | uncertain significance | 3 | 39410980 | 39410980 | Human | | name |
| 597917451 | CV3843384 | single nucleotide variant | NM_002295.6(RPSA):c.670A>G (p.Lys224Glu) | not provided [RCV005192418] | uncertain significance | 3 | 39411938 | 39411938 | Human | | name |
| 597924700 | CV3858092 | single nucleotide variant | NM_002295.6(RPSA):c.820G>C (p.Glu274Gln) | not provided [RCV005199520] | uncertain significance | 3 | 39412300 | 39412300 | Human | | name |
| 598222005 | CV3903079 | single nucleotide variant | NM_002295.6(RPSA):c.550C>T (p.Arg184Cys) | not specified [RCV005272518] | uncertain significance | 3 | 39411700 | 39411700 | Human | | name |
| 8621604 | CV75608 | single nucleotide variant | NM_002295.6(RPSA):c.538C>G (p.Arg180Gly) | Familial isolated congenital asplenia [RCV000054824] | pathogenic | 3 | 39411688 | 39411688 | Human | 1 | name |
| 8621605 | CV75609 | single nucleotide variant | NM_002295.6(RPSA):c.538C>T (p.Arg180Trp) | Familial isolated congenital asplenia [RCV000054825]|not provided [RCV003556138] | pathogenic | 3 | 39411688 | 39411688 | Human | 1 | name |
| 8621606 | CV75610 | single nucleotide variant | NM_002295.6(RPSA):c.556C>T (p.Arg186Cys) | Familial isolated congenital asplenia [RCV000054826]|not provided [RCV002291553] | pathogenic|likely pathogenic | 3 | 39411706 | 39411706 | Human | 1 | name |
| 597927233 | CV3854576 | microsatellite | NM_002295.6(RPSA):c.523TGG[1] (p.Trp176del) | not provided [RCV005201683] | uncertain significance | 3 | 39411672 | 39411674 | Human | | name |
| 8621603 | CV75607 | duplication | NM_002295.6(RPSA):c.590_594dup (p.Pro199fs) | Familial isolated congenital asplenia [RCV000054823] | pathogenic | 3 | 39411738 | 39411739 | Human | 1 | name |
| 401910450 | CV2811932 | single nucleotide variant | NM_001355283.3(RPSA2):c.702C>T (p.Pro234=) | not provided [RCV003425082] | likely benign | 19 | 23827863 | 23827863 | Human | | name |
| 401910451 | CV2811933 | single nucleotide variant | NM_001355283.3(RPSA2):c.774T>A (p.Pro258=) | not provided [RCV003425083] | likely benign | 19 | 23827935 | 23827935 | Human | | name |
