| 150434813 | CV1215984 | single nucleotide variant | NM_001127496.3(SPRY4):c.*98G>C | not provided [RCV001609173] | benign | 5 | 142314111 | 142314111 | Human | | name |
| 152159194 | CV1544355 | single nucleotide variant | NM_001127496.3(SPRY4):c.-25C>T | not provided [RCV002122891] | benign | 5 | 142315133 | 142315133 | Human | | name |
| 152041561 | CV1568435 | single nucleotide variant | NM_001127496.3(SPRY4):c.-28C>T | not provided [RCV002107814] | likely benign | 5 | 142315136 | 142315136 | Human | | name |
| 156008711 | CV2127556 | single nucleotide variant | NM_001127496.3(SPRY4):c.-24G>A | not provided [RCV002948146] | uncertain significance | 5 | 142315132 | 142315132 | Human | | name |
| 156264872 | CV2329480 | single nucleotide variant | NM_001127496.3(SPRY4):c.-47G>C | not specified [RCV004187480] | uncertain significance | 5 | 142315155 | 142315155 | Human | | name |
| 407516071 | CV3478025 | single nucleotide variant | NM_001127496.3(SPRY4):c.-45C>T | not specified [RCV004675167] | uncertain significance | 5 | 142315153 | 142315153 | Human | | name |
| 597907663 | CV3781540 | single nucleotide variant | NM_001127496.3(SPRY4):c.-22A>T | not provided [RCV005128228] | likely benign | 5 | 142315130 | 142315130 | Human | | name |
| 150480273 | CV1282576 | single nucleotide variant | NM_001127496.3(SPRY4):c.*181G>A | not provided [RCV001714615] | benign | 5 | 142314028 | 142314028 | Human | | name |
| 150463584 | CV1253824 | single nucleotide variant | NM_001127496.3(SPRY4):c.-47-4672C>T | not provided [RCV001669866] | benign | 5 | 142319827 | 142319827 | Human | | name |
| 151351793 | CV1323636 | single nucleotide variant | NM_001127496.3(SPRY4):c.-47-4598C>G | See cases [RCV004584448] | uncertain significance | 5 | 142319753 | 142319753 | Human | | name |
| 405257974 | CV3207981 | single nucleotide variant | NM_001127496.3(SPRY4):c.-47-4618G>A | SPRY4-related disorder [RCV003941447] | likely benign | 5 | 142319773 | 142319773 | Human | | name , trait , alternate_id |
| 156213993 | CV1902660 | single nucleotide variant | NM_001127496.3(SPRY4):c.12G>A (p.Pro4=) | not provided [RCV003084717] | likely benign | 5 | 142315097 | 142315097 | Human | | name |
| 15115253 | CV782195 | single nucleotide variant | NM_001127496.3(SPRY4):c.24C>T (p.Ser8=) | not provided [RCV000978368] | likely benign | 5 | 142315085 | 142315085 | Human | | name |
| 405090089 | CV3118386 | single nucleotide variant | NM_001127496.3(SPRY4):c.96G>A (p.Gln32=) | not provided [RCV003811028] | likely benign | 5 | 142315013 | 142315013 | Human | | name |
| 405273867 | CV3198311 | single nucleotide variant | NM_001127496.3(SPRY4):c.57G>A (p.Gln19=) | SPRY4-related disorder [RCV003902079] | likely benign | 5 | 142315052 | 142315052 | Human | | name , trait , alternate_id |
| 15129580 | CV749281 | single nucleotide variant | NM_001127496.3(SPRY4):c.60C>T (p.Pro20=) | not provided [RCV000919856] | likely benign | 5 | 142315049 | 142315049 | Human | | name |
| 156417304 | CV1913328 | single nucleotide variant | NM_001127496.3(SPRY4):c.183C>T (p.Thr61=) | SPRY4-related disorder [RCV003906527]|not provided [RCV002610647] | likely benign | 5 | 142314926 | 142314926 | Human | 1 | name , trait , alternate_id |
| 405259940 | CV3190118 | single nucleotide variant | NM_001127496.3(SPRY4):c.186C>T (p.Thr62=) | SPRY4-related disorder [RCV003894521]|not provided [RCV005101624] | likely benign | 5 | 142314923 | 142314923 | Human | 1 | name , trait , alternate_id |
| 405286639 | CV3205332 | single nucleotide variant | NM_001127496.3(SPRY4):c.228G>A (p.Pro76=) | SPRY4-related disorder [RCV003959527] | likely benign | 5 | 142314881 | 142314881 | Human | | name , trait , alternate_id |
| 597949299 | CV3759325 | single nucleotide variant | NM_001127496.3(SPRY4):c.180G>T (p.Leu60=) | not provided [RCV005079122] | likely benign | 5 | 142314929 | 142314929 | Human | | name |
| 597963948 | CV3837804 | single nucleotide variant | NM_001127496.3(SPRY4):c.240C>T (p.Arg80=) | not provided [RCV005193787] | likely benign | 5 | 142314869 | 142314869 | Human | | name |
| 15155807 | CV734888 | single nucleotide variant | NM_001127496.3(SPRY4):c.237C>T (p.Ala79=) | not provided [RCV000902209] | likely benign | 5 | 142314872 | 142314872 | Human | | name |
| 15176805 | CV734889 | single nucleotide variant | NM_001127496.3(SPRY4):c.231G>A (p.Thr77=) | SPRY4-related disorder [RCV003968330]|not provided [RCV000906511] | benign|likely benign | 5 | 142314878 | 142314878 | Human | 1 | name , trait , alternate_id |
| 15153299 | CV734890 | single nucleotide variant | NM_001127496.3(SPRY4):c.25G>A (p.Ala9Thr) | not provided [RCV000901733] | likely benign | 5 | 142315084 | 142315084 | Human | | name |
| 152044301 | CV1534431 | single nucleotide variant | NM_001127496.3(SPRY4):c.696C>T (p.Cys232=) | not provided [RCV002088361] | likely benign | 5 | 142314413 | 142314413 | Human | | name |
| 155914162 | CV2091603 | single nucleotide variant | NM_001127496.3(SPRY4):c.594G>A (p.Thr198=) | not provided [RCV002902974] | likely benign | 5 | 142314515 | 142314515 | Human | | name |
| 156010257 | CV2126835 | single nucleotide variant | NM_001127496.3(SPRY4):c.516C>G (p.Ser172=) | not provided [RCV002975610] | likely benign | 5 | 142314593 | 142314593 | Human | | name |
| 405210987 | CV3059081 | single nucleotide variant | NM_001127496.3(SPRY4):c.885C>T (p.Pro295=) | not provided [RCV003732004] | likely benign | 5 | 142314224 | 142314224 | Human | | name |
| 405038968 | CV3067681 | single nucleotide variant | NM_001127496.3(SPRY4):c.477C>T (p.Cys159=) | not provided [RCV003739706] | likely benign | 5 | 142314632 | 142314632 | Human | | name |
| 405230809 | CV3153940 | single nucleotide variant | NM_001127496.3(SPRY4):c.657C>T (p.Cys219=) | not provided [RCV003848808] | likely benign | 5 | 142314452 | 142314452 | Human | | name |
| 405262256 | CV3194426 | single nucleotide variant | NM_001127496.3(SPRY4):c.492G>A (p.Lys164=) | SPRY4-related disorder [RCV003896455] | likely benign | 5 | 142314617 | 142314617 | Human | | name , trait , alternate_id |
| 405293200 | CV3207271 | single nucleotide variant | NM_001127496.3(SPRY4):c.438G>A (p.Pro146=) | SPRY4-related disorder [RCV003931667] | likely benign | 5 | 142314671 | 142314671 | Human | | name , trait , alternate_id |
| 596942287 | CV3544049 | single nucleotide variant | NM_001127496.3(SPRY4):c.501C>T (p.Cys167=) | not specified [RCV004800039] | uncertain significance | 5 | 142314608 | 142314608 | Human | | name |
| 597948279 | CV3852465 | single nucleotide variant | NM_001127496.3(SPRY4):c.333C>G (p.Leu111=) | not provided [RCV005189543] | likely benign | 5 | 142314776 | 142314776 | Human | | name |
| 598272588 | CV3915630 | single nucleotide variant | NM_001127496.3(SPRY4):c.64C>T (p.Leu22Phe) | not specified [RCV005282663] | uncertain significance | 5 | 142315045 | 142315045 | Human | | name |
| 8572463 | CV59861 | single nucleotide variant | NM_001127496.3(SPRY4):c.46G>A (p.Val16Ile) | Hypogonadotropic hypogonadism 17 with or without anosmia [RCV000043617] | pathogenic | 5 | 142315063 | 142315063 | Human | 1 | name |
| 15099872 | CV698886 | single nucleotide variant | NM_001127496.3(SPRY4):c.726C>T (p.Ser242=) | not provided [RCV000958827] | likely benign | 5 | 142314383 | 142314383 | Human | | name |
| 15126238 | CV734887 | single nucleotide variant | NM_001127496.3(SPRY4):c.450C>T (p.Pro150=) | not provided [RCV000896901]|not specified [RCV004800630] | likely benign | 5 | 142314659 | 142314659 | Human | | name |
| 15110389 | CV749280 | single nucleotide variant | NM_001127496.3(SPRY4):c.88C>T (p.Arg30Trp) | SPRY4-related disorder [RCV003923236]|not provided [RCV000916522] | benign|likely benign | 5 | 142315021 | 142315021 | Human | 1 | name , trait , alternate_id |
| 15119903 | CV782194 | single nucleotide variant | NM_001127496.3(SPRY4):c.666C>T (p.His222=) | not provided [RCV000979197] | likely benign | 5 | 142314443 | 142314443 | Human | | name |
| 151733240 | CV1336519 | single nucleotide variant | NM_001127496.3(SPRY4):c.206G>T (p.Gly69Val) | Amenorrhea [RCV001849748] | uncertain significance | 5 | 142314903 | 142314903 | Human | 2 | name |
| 152085992 | CV1633637 | single nucleotide variant | NM_001127496.3(SPRY4):c.244G>A (p.Asp82Asn) | not provided [RCV002113395] | likely benign | 5 | 142314865 | 142314865 | Human | | name |
| 156440681 | CV1943742 | single nucleotide variant | NM_001127496.3(SPRY4):c.280G>A (p.Gly94Arg) | not provided [RCV003110718] | uncertain significance | 5 | 142314829 | 142314829 | Human | | name |
| 155940379 | CV2142886 | single nucleotide variant | NM_001127496.3(SPRY4):c.230C>T (p.Thr77Met) | not provided [RCV002994014] | uncertain significance | 5 | 142314879 | 142314879 | Human | | name |
| 156371135 | CV2204450 | single nucleotide variant | NM_001127496.3(SPRY4):c.196C>T (p.Arg66Trp) | not specified [RCV004079257] | uncertain significance | 5 | 142314913 | 142314913 | Human | | name |
| 156067184 | CV2381066 | single nucleotide variant | NM_001127496.3(SPRY4):c.182C>T (p.Thr61Ile) | not specified [RCV004225102] | uncertain significance | 5 | 142314927 | 142314927 | Human | | name |
| 156265239 | CV2389038 | single nucleotide variant | NM_001127496.3(SPRY4):c.203G>A (p.Arg68Gln) | not provided [RCV005099205]|not specified [RCV004242028] | uncertain significance | 5 | 142314906 | 142314906 | Human | | name |
| 155930792 | CV2399725 | single nucleotide variant | NM_001127496.3(SPRY4):c.235G>A (p.Ala79Thr) | not specified [RCV004245543] | uncertain significance | 5 | 142314874 | 142314874 | Human | | name |
| 401860879 | CV2750295 | single nucleotide variant | NM_001127496.3(SPRY4):c.278G>A (p.Ser93Asn) | Hypogonadotropic hypogonadism 17 with or without anosmia [RCV003333839] | uncertain significance | 5 | 142314831 | 142314831 | Human | 1 | name |
| 402498081 | CV3015738 | single nucleotide variant | NM_001127496.3(SPRY4):c.271T>C (p.Ser91Pro) | not provided [RCV003688157] | uncertain significance | 5 | 142314838 | 142314838 | Human | | name |
| 405218248 | CV3161272 | single nucleotide variant | NM_001127496.3(SPRY4):c.259C>A (p.His87Asn) | not provided [RCV003863141] | uncertain significance | 5 | 142314850 | 142314850 | Human | | name |
| 597964418 | CV3848050 | single nucleotide variant | NM_001127496.3(SPRY4):c.227C>T (p.Pro76Leu) | not provided [RCV005193929] | uncertain significance | 5 | 142314882 | 142314882 | Human | | name |
| 598272577 | CV3915628 | single nucleotide variant | NM_001127496.3(SPRY4):c.109A>G (p.Ile37Val) | not specified [RCV005282661] | uncertain significance | 5 | 142315000 | 142315000 | Human | | name |
| 598272583 | CV3915629 | single nucleotide variant | NM_001127496.3(SPRY4):c.202C>T (p.Arg68Trp) | not specified [RCV005282662] | uncertain significance | 5 | 142314907 | 142314907 | Human | | name |
| 598272601 | CV3915633 | single nucleotide variant | NM_001127496.3(SPRY4):c.103C>T (p.Leu35Phe) | not specified [RCV005282666] | uncertain significance | 5 | 142315006 | 142315006 | Human | | name |
| 12905544 | CV413691 | single nucleotide variant | NM_001127496.3(SPRY4):c.188G>A (p.Gly63Asp) | not provided [RCV000487638] | uncertain significance | 5 | 142314921 | 142314921 | Human | | name |
| 150404889 | CV1189404 | single nucleotide variant | NM_001127496.3(SPRY4):c.778C>A (p.Leu260Met) | Disorder of sexual differentiation [RCV001564032] | uncertain significance | 5 | 142314331 | 142314331 | Human | 1 | name |
| 150552952 | CV1295630 | single nucleotide variant | NM_001127496.3(SPRY4):c.401A>G (p.Lys134Arg) | not provided [RCV001768562] | uncertain significance | 5 | 142314708 | 142314708 | Human | | name |
| 151767063 | CV1496127 | single nucleotide variant | NM_001127496.3(SPRY4):c.658G>A (p.Ala220Thr) | not provided [RCV001863715] | uncertain significance | 5 | 142314451 | 142314451 | Human | | name |
| 156356216 | CV1894923 | single nucleotide variant | NM_001127496.3(SPRY4):c.697G>A (p.Ala233Thr) | not provided [RCV003091376] | uncertain significance | 5 | 142314412 | 142314412 | Human | | name |
| 156295632 | CV1904652 | single nucleotide variant | NM_001127496.3(SPRY4):c.518C>A (p.Pro173His) | not provided [RCV002598935] | uncertain significance | 5 | 142314591 | 142314591 | Human | | name |
| 156446875 | CV1948556 | single nucleotide variant | NM_001127496.3(SPRY4):c.388C>T (p.Arg130Cys) | not provided [RCV003118394] | uncertain significance | 5 | 142314721 | 142314721 | Human | | name |
| 156410493 | CV1958402 | single nucleotide variant | NM_001127496.3(SPRY4):c.629G>T (p.Cys210Phe) | not provided [RCV002587170]|not specified [RCV005239456] | uncertain significance | 5 | 142314480 | 142314480 | Human | | name |
| 155944284 | CV2111359 | single nucleotide variant | NM_001127496.3(SPRY4):c.800G>A (p.Arg267His) | not provided [RCV002904673] | uncertain significance | 5 | 142314309 | 142314309 | Human | | name |
| 156228226 | CV2115472 | single nucleotide variant | NM_001127496.3(SPRY4):c.772G>A (p.Val258Met) | SPRY4-related disorder [RCV003936389]|not provided [RCV002932724] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 142314337 | 142314337 | Human | 1 | name , trait , alternate_id |
| 156222999 | CV2144294 | single nucleotide variant | NM_001127496.3(SPRY4):c.878G>A (p.Ser293Asn) | not provided [RCV003007456] | uncertain significance | 5 | 142314231 | 142314231 | Human | | name |
| 155917884 | CV2195563 | single nucleotide variant | NM_001127496.3(SPRY4):c.845T>C (p.Ile282Thr) | not specified [RCV004082778] | uncertain significance | 5 | 142314264 | 142314264 | Human | | name |
| 156400049 | CV2198933 | single nucleotide variant | NM_001127496.3(SPRY4):c.389G>A (p.Arg130His) | not specified [RCV004080353] | uncertain significance | 5 | 142314720 | 142314720 | Human | | name |
| 156243302 | CV2210909 | single nucleotide variant | NM_001127496.3(SPRY4):c.832A>G (p.Thr278Ala) | not specified [RCV004085987] | uncertain significance | 5 | 142314277 | 142314277 | Human | | name |
| 156208900 | CV2382559 | single nucleotide variant | NM_001127496.3(SPRY4):c.434G>A (p.Gly145Asp) | not specified [RCV004232888] | uncertain significance | 5 | 142314675 | 142314675 | Human | | name |
| 329398511 | CV2471131 | single nucleotide variant | NM_001127496.3(SPRY4):c.643G>A (p.Asp215Asn) | not specified [RCV004278384] | uncertain significance | 5 | 142314466 | 142314466 | Human | | name |
| 329848780 | CV2523528 | single nucleotide variant | NM_001127496.3(SPRY4):c.819C>G (p.Cys273Trp) | not provided [RCV003225542] | uncertain significance | 5 | 142314290 | 142314290 | Human | | name |
| 401721684 | CV2680628 | single nucleotide variant | NM_001127496.3(SPRY4):c.788G>A (p.Arg263His) | not specified [RCV004291247] | uncertain significance | 5 | 142314321 | 142314321 | Human | | name |
| 401770694 | CV2707355 | single nucleotide variant | NM_001127496.3(SPRY4):c.862G>A (p.Gly288Arg) | not specified [RCV004312751] | uncertain significance | 5 | 142314247 | 142314247 | Human | | name |
| 401796591 | CV2740757 | single nucleotide variant | NM_001127496.3(SPRY4):c.892C>G (p.Pro298Ala) | not provided [RCV003321427]|not specified [RCV005281375] | uncertain significance | 5 | 142314217 | 142314217 | Human | | name |
| 401893299 | CV2755423 | single nucleotide variant | NM_001127496.3(SPRY4):c.682C>T (p.Arg228Cys) | not specified [RCV004337581] | uncertain significance | 5 | 142314427 | 142314427 | Human | | name |
| 401884926 | CV2771057 | single nucleotide variant | NM_001127496.3(SPRY4):c.727G>A (p.Val243Met) | not specified [RCV004346066] | uncertain significance | 5 | 142314382 | 142314382 | Human | | name |
| 401932726 | CV2801848 | single nucleotide variant | NM_001127496.3(SPRY4):c.437C>T (p.Pro146Leu) | SPRY4-related disorder [RCV003408814]|not provided [RCV005099947]|not specified [RCV004362883] | uncertain significance | 5 | 142314672 | 142314672 | Human | 1 | name , trait , alternate_id |
| 401915204 | CV2830996 | single nucleotide variant | NM_001127496.3(SPRY4):c.886G>A (p.Asp296Asn) | not provided [RCV003442737] | uncertain significance | 5 | 142314223 | 142314223 | Human | | name |
| 405155434 | CV3064777 | single nucleotide variant | NM_001127496.3(SPRY4):c.449C>A (p.Pro150His) | not provided [RCV003726711] | uncertain significance | 5 | 142314660 | 142314660 | Human | | name |
| 405740280 | CV3333903 | single nucleotide variant | NM_001127496.3(SPRY4):c.478G>A (p.Glu160Lys) | Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005392796]|not specified [RCV004465303] | uncertain significance | 5 | 142314631 | 142314631 | Human | 1 | name |
| 408383847 | CV3507147 | single nucleotide variant | NM_001127496.3(SPRY4):c.377C>G (p.Pro126Arg) | SPRY4-related disorder [RCV004731319] | uncertain significance | 5 | 142314732 | 142314732 | Human | | name , trait , alternate_id |
| 408366365 | CV3509220 | single nucleotide variant | NM_001127496.3(SPRY4):c.666C>A (p.His222Gln) | SPRY4-related disorder [RCV004756650] | uncertain significance | 5 | 142314443 | 142314443 | Human | | name , trait , alternate_id |
| 408366651 | CV3513690 | single nucleotide variant | NM_001127496.3(SPRY4):c.820C>A (p.Arg274Ser) | SPRY4-related disorder [RCV004756904] | uncertain significance | 5 | 142314289 | 142314289 | Human | | name , trait , alternate_id |
| 597778122 | CV3604005 | single nucleotide variant | NM_001127496.3(SPRY4):c.820C>T (p.Arg274Cys) | not specified [RCV004873203] | uncertain significance | 5 | 142314289 | 142314289 | Human | | name |
| 597965325 | CV3751085 | single nucleotide variant | NM_001127496.3(SPRY4):c.555G>T (p.Glu185Asp) | not provided [RCV005082647] | uncertain significance | 5 | 142314554 | 142314554 | Human | | name |
| 598128320 | CV3887521 | single nucleotide variant | NM_001127496.3(SPRY4):c.805C>T (p.Arg269Cys) | not provided [RCV005243694] | likely benign | 5 | 142314304 | 142314304 | Human | | name |
| 598204278 | CV3896627 | single nucleotide variant | NM_001127496.3(SPRY4):c.524C>T (p.Thr175Met) | Hypogonadism with anosmia [RCV005356837] | uncertain significance | 5 | 142314585 | 142314585 | Human | 1 | name |
| 598272592 | CV3915631 | single nucleotide variant | NM_001127496.3(SPRY4):c.788G>T (p.Arg263Leu) | not specified [RCV005282664] | uncertain significance | 5 | 142314321 | 142314321 | Human | | name |
| 598272597 | CV3915632 | single nucleotide variant | NM_001127496.3(SPRY4):c.328C>T (p.Arg110Trp) | not specified [RCV005282665] | uncertain significance | 5 | 142314781 | 142314781 | Human | | name |
| 598178338 | CV4008427 | single nucleotide variant | NM_001127496.3(SPRY4):c.766G>A (p.Gly256Ser) | Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005393946] | uncertain significance | 5 | 142314343 | 142314343 | Human | 1 | name |
| 616939796 | CV4014499 | single nucleotide variant | NM_001127496.3(SPRY4):c.598A>G (p.Met200Val) | not provided [RCV005413993] | uncertain significance | 5 | 142314511 | 142314511 | Human | | name |
| 8572460 | CV59858 | single nucleotide variant | NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg) | Hypogonadotropic hypogonadism 17 with or without anosmia [RCV000043614]|SPRY4-related disorder [RCV003934980]|not provided [RCV000356060] | pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 142314648 | 142314648 | Human | 1 | name , trait , alternate_id |
| 8572461 | CV59859 | single nucleotide variant | NM_001127496.3(SPRY4):c.841G>A (p.Val281Ile) | Hypogonadotropic hypogonadism 17 with or without anosmia [RCV000043615]|not provided [RCV000969209] | pathogenic|benign|conflicting interpretations of pathogenicity | 5 | 142314268 | 142314268 | Human | 1 | name |
| 8572462 | CV59860 | single nucleotide variant | NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) | Amenorrhea [RCV001849295]|Hypogonadotropic hypogonadism 17 with or without anosmia [RCV000043616]|not provided [RCV000954651]|not specified [RCV000454560] | risk factor|likely benign|uncertain significance | 5 | 142314456 | 142314456 | Human | 3 | name |
| 15154094 | CV734886 | single nucleotide variant | NM_001127496.3(SPRY4):c.557G>A (p.Cys186Tyr) | not provided [RCV000901889] | benign|likely benign | 5 | 142314552 | 142314552 | Human | | name |
| 597971205 | CV3802481 | microsatellite | NM_001127496.3(SPRY4):c.299GCA[6] (p.Ser104_Thr105insSer) | not provided [RCV005142079] | uncertain significance | 5 | 142314795 | 142314796 | Human | | name |
| 597915681 | CV3789097 | duplication | NM_001127496.3(SPRY4):c.869_886dup (p.Pro295_Asp296insAlaLysThrSerArgPro) | not provided [RCV005129394] | uncertain significance | 5 | 142314222 | 142314223 | Human | | name |
