| 8557544 | CV18641 | insertion | PROK2, 1-BP INS, 234T | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000003785] | pathogenic | | | | Human | | name , alternate_id |
| 150539093 | CV1295159 | single nucleotide variant | NM_001126128.2(PROK2):c.-2C>A | not provided [RCV001765120] | uncertain significance | 3 | 71785054 | 71785054 | Human | | name |
| 151355835 | CV1327019 | single nucleotide variant | NM_001126128.2(PROK2):c.*2C>T | not specified [RCV001822188] | benign | 3 | 71772722 | 71772722 | Human | | name |
| 405255936 | CV3208416 | single nucleotide variant | NM_001126128.2(PROK2):c.-5G>A | PROK2-related disorder [RCV003939516] | likely benign | 3 | 71785057 | 71785057 | Human | | name , trait , alternate_id |
| 405270392 | CV3211351 | single nucleotide variant | NM_001126128.2(PROK2):c.-8A>G | PROK2-related disorder [RCV003949255] | likely benign | 3 | 71785060 | 71785060 | Human | | name , trait , alternate_id |
| 408366524 | CV3511544 | single nucleotide variant | NM_001126128.2(PROK2):c.-9G>A | PROK2-related disorder [RCV004756790] | likely benign | 3 | 71785061 | 71785061 | Human | | name , trait , alternate_id |
| 21071219 | CV790421 | single nucleotide variant | NM_001126128.2(PROK2):c.-4C>A | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000987292]|PROK2-related disorder [RCV003936239]|not provided [RCV004702554]|not specified [RCV003994180] | benign|likely benign|uncertain significance | 3 | 71785056 | 71785056 | Human | 1 | name , trait , alternate_id |
| 408366741 | CV3514389 | single nucleotide variant | NM_001126128.2(PROK2):c.-10C>A | PROK2-related disorder [RCV004756925] | likely benign | 3 | 71785062 | 71785062 | Human | | name , trait , alternate_id |
| 12844877 | CV367381 | single nucleotide variant | NM_001126128.2(PROK2):c.-35A>G | not provided [RCV004716420]|not specified [RCV000438787] | benign | 3 | 71785087 | 71785087 | Human | | name |
| 150416175 | CV1192602 | single nucleotide variant | NM_001126128.2(PROK2):c.96+4A>G | Disorder of sexual differentiation [RCV001568331] | uncertain significance | 3 | 71784953 | 71784953 | Human | 1 | name |
| 150440387 | CV1201680 | single nucleotide variant | NM_001126128.2(PROK2):c.*136T>C | not provided [RCV001583492] | likely benign | 3 | 71772588 | 71772588 | Human | | name |
| 150453276 | CV1205627 | single nucleotide variant | NM_001126128.2(PROK2):c.*221T>G | not provided [RCV001585528] | likely benign | 3 | 71772503 | 71772503 | Human | | name |
| 150503417 | CV1212478 | deletion | NM_001126128.2(PROK2):c.*164del | not provided [RCV001595353] | benign | 3 | 71772560 | 71772560 | Human | | name |
| 150512953 | CV1228850 | duplication | NM_001126128.2(PROK2):c.*164dup | not provided [RCV001637692] | benign | 3 | 71772559 | 71772560 | Human | | name |
| 407424627 | CV3407356 | single nucleotide variant | NM_001126128.2(PROK2):c.96+2T>C | Hypogonadotropic hypogonadism [RCV004584172] | uncertain significance | 3 | 71784955 | 71784955 | Human | 3 | name |
| 408383583 | CV3504084 | single nucleotide variant | NM_001126128.2(PROK2):c.97-8C>T | PROK2-related disorder [RCV004730683] | likely benign | 3 | 71781600 | 71781600 | Human | | name , trait , alternate_id |
| 14725697 | CV660040 | single nucleotide variant | NM_001126128.1(PROK2):c.-253T>C | not provided [RCV000833551] | likely benign | 3 | 71785305 | 71785305 | Human | | name |
| 15116701 | CV695216 | single nucleotide variant | NM_001126128.2(PROK2):c.97-9A>G | not provided [RCV000873375] | likely benign | 3 | 71781601 | 71781601 | Human | | name |
| 408366337 | CV3507282 | single nucleotide variant | NM_001126128.2(PROK2):c.286-5T>A | PROK2-related disorder [RCV004756580] | likely benign | 3 | 71772833 | 71772833 | Human | | name , trait , alternate_id |
| 408366763 | CV3515188 | single nucleotide variant | NM_001126128.2(PROK2):c.223-3C>T | PROK2-related disorder [RCV004756963] | likely benign | 3 | 71774510 | 71774510 | Human | | name , trait , alternate_id |
| 42722897 | CV985208 | single nucleotide variant | NM_001126128.2(PROK2):c.223-2A>G | PROK2-related disorder [RCV003917351]|not provided [RCV005064817] | pathogenic|likely pathogenic|uncertain significance | 3 | 71774509 | 71774509 | Human | 1 | name , trait , alternate_id |
| 150439039 | CV1266195 | single nucleotide variant | NM_001126128.2(PROK2):c.285+14G>A | not provided [RCV001690630]|not specified [RCV001701215] | benign | 3 | 71774431 | 71774431 | Human | 3 | name |
| 156083981 | CV2023723 | single nucleotide variant | NM_001126128.2(PROK2):c.223-19G>T | not provided [RCV002760718] | likely benign | 3 | 71774526 | 71774526 | Human | | name |
| 405026614 | CV2889915 | single nucleotide variant | NM_001126128.2(PROK2):c.285+13C>T | not provided [RCV003578028] | likely benign | 3 | 71774432 | 71774432 | Human | | name |
| 150409949 | CV1190103 | single nucleotide variant | NM_001126128.2(PROK2):c.285+238G>C | not provided [RCV001565837] | likely benign | 3 | 71774207 | 71774207 | Human | | name |
| 150517434 | CV1226884 | single nucleotide variant | NM_001126128.2(PROK2):c.223-205C>A | not provided [RCV001639979] | benign | 3 | 71774712 | 71774712 | Human | | name |
| 150464777 | CV1241374 | single nucleotide variant | NM_001126128.2(PROK2):c.286-277C>T | not provided [RCV001649885] | benign | 3 | 71773105 | 71773105 | Human | | name |
| 14725700 | CV660037 | single nucleotide variant | NM_001126128.2(PROK2):c.222+277A>G | not provided [RCV000833552] | benign | 3 | 71781190 | 71781190 | Human | | name |
| 150471740 | CV1209608 | deletion | NM_001126128.2(PROK2):c.*163_*164del | not provided [RCV001588719] | likely benign | 3 | 71772560 | 71772561 | Human | | name |
| 153001004 | CV1684037 | single nucleotide variant | NM_001126128.2(PROK2):c.3G>A (p.Met1Ile) | See cases [RCV004584477] | uncertain significance | 3 | 71785050 | 71785050 | Human | | name |
| 155802661 | CV1864458 | single nucleotide variant | NM_001126128.2(PROK2):c.57G>C (p.Leu19=) | not provided [RCV002475411] | uncertain significance | 3 | 71784996 | 71784996 | Human | | name |
| 156243228 | CV2024694 | single nucleotide variant | NM_001126128.2(PROK2):c.7A>G (p.Ser3Gly) | not provided [RCV002745735] | uncertain significance | 3 | 71785046 | 71785046 | Human | | name |
| 156099340 | CV2392856 | single nucleotide variant | NM_001126128.2(PROK2):c.8G>A (p.Ser3Asn) | Inborn genetic diseases [RCV002784813] | uncertain significance | 3 | 71785045 | 71785045 | Human | 1 | name |
| 405275055 | CV3204571 | single nucleotide variant | NM_001126128.2(PROK2):c.33C>T (p.Leu11=) | PROK2-related disorder [RCV003951987] | likely benign | 3 | 71785020 | 71785020 | Human | | name , trait , alternate_id |
| 405292778 | CV3217491 | single nucleotide variant | NM_001126128.2(PROK2):c.30G>T (p.Leu10=) | PROK2-related disorder [RCV003964751] | likely benign | 3 | 71785023 | 71785023 | Human | | name , trait , alternate_id |
| 408366879 | CV3517569 | single nucleotide variant | NM_001126128.2(PROK2):c.81C>A (p.Ala27=) | PROK2-related disorder [RCV004757061] | likely benign | 3 | 71784972 | 71784972 | Human | | name , trait , alternate_id |
| 12833217 | CV367725 | single nucleotide variant | NM_001126128.2(PROK2):c.84C>G (p.Ala28=) | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV002506018]|not provided [RCV000861058]|not specified [RCV000418095] | benign|likely benign | 3 | 71784969 | 71784969 | Human | 1 | name |
| 15127009 | CV691485 | single nucleotide variant | NM_001126128.2(PROK2):c.99T>C (p.Ala33=) | PROK2-related disorder [RCV003955726]|not provided [RCV000875228] | likely benign | 3 | 71781590 | 71781590 | Human | 1 | name , trait , alternate_id |
| 408366761 | CV3515106 | single nucleotide variant | NM_001126128.2(PROK2):c.14G>T (p.Cys5Phe) | PROK2-related disorder [RCV004756954] | uncertain significance | 3 | 71785039 | 71785039 | Human | | name , trait , alternate_id |
| 9589641 | CV166364 | single nucleotide variant | NM_001126128.2(PROK2):c.70G>C (p.Ala24Pro) | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000144710]|PROK2-related disorder [RCV003965087] | pathogenic|uncertain significance | 3 | 71784983 | 71784983 | Human | 1 | name , trait , alternate_id |
| 8557543 | CV18640 | single nucleotide variant | NM_001126128.2(PROK2):c.94G>C (p.Gly32Arg) | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000003784]|PROK2-related disorder [RCV003415642] | pathogenic|uncertain significance | 3 | 71784959 | 71784959 | Human | 1 | name , trait , alternate_id |
| 156362124 | CV2265478 | single nucleotide variant | NM_001126128.2(PROK2):c.97G>C (p.Ala33Pro) | Inborn genetic diseases [RCV002812983] | uncertain significance | 3 | 71781592 | 71781592 | Human | 1 | name |
| 156079098 | CV2300886 | deletion | NM_001126128.2(PROK2):c.297del (p.Phe99fs) | Inborn genetic diseases [RCV002887335]|PROK2-related disorder [RCV003395650] | uncertain significance | 3 | 71772817 | 71772817 | Human | 2 | name , trait , alternate_id |
| 402492737 | CV3008373 | single nucleotide variant | NM_001126128.2(PROK2):c.85G>A (p.Val29Met) | Inborn genetic diseases [RCV004953383]|not provided [RCV003687695] | uncertain significance | 3 | 71784968 | 71784968 | Human | 1 | name |
| 405672020 | CV3377349 | single nucleotide variant | NM_001126128.2(PROK2):c.46C>T (p.Pro16Ser) | Inborn genetic diseases [RCV004515382] | uncertain significance | 3 | 71785007 | 71785007 | Human | 1 | name |
| 408383912 | CV3506089 | single nucleotide variant | NM_001126128.2(PROK2):c.70G>T (p.Ala24Ser) | PROK2-related disorder [RCV004731393] | uncertain significance | 3 | 71784983 | 71784983 | Human | | name , trait , alternate_id |
| 408366779 | CV3515750 | single nucleotide variant | NM_001126128.2(PROK2):c.381C>G (p.Ala127=) | PROK2-related disorder [RCV004756982] | likely benign | 3 | 71772733 | 71772733 | Human | | name , trait , alternate_id |
| 597960061 | CV3746187 | single nucleotide variant | NM_001126128.2(PROK2):c.321C>T (p.Cys107=) | not provided [RCV005081435] | likely benign | 3 | 71772793 | 71772793 | Human | | name |
| 598227850 | CV3894554 | single nucleotide variant | NM_001126128.2(PROK2):c.64C>T (p.Pro22Ser) | not provided [RCV005257798] | uncertain significance | 3 | 71784989 | 71784989 | Human | | name |
| 598247709 | CV3901202 | single nucleotide variant | NM_001126128.2(PROK2):c.71C>T (p.Ala24Val) | Inborn genetic diseases [RCV005258678] | likely benign | 3 | 71784982 | 71784982 | Human | 1 | name |
| 151733216 | CV1336513 | single nucleotide variant | NM_001126128.2(PROK2):c.181A>G (p.Met61Val) | Amenorrhea [RCV001849742] | uncertain significance | 3 | 71781508 | 71781508 | Human | 2 | name |
| 9589642 | CV166365 | single nucleotide variant | NM_001126128.2(PROK2):c.101G>A (p.Cys34Tyr) | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000144711] | pathogenic|not provided | 3 | 71781588 | 71781588 | Human | 1 | name |
| 8557546 | CV18643 | single nucleotide variant | NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys) | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000003788]|PROK2-related disorder [RCV004755707]|not provided [RCV001851628] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 71781472 | 71781472 | Human | 1 | name , trait , alternate_id |
| 156051664 | CV2238073 | single nucleotide variant | NM_001126128.2(PROK2):c.185G>A (p.Gly62Asp) | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV005399169]|Inborn genetic diseases [RCV002782057] | uncertain significance | 3 | 71781504 | 71781504 | Human | 2 | name |
| 156278633 | CV2297475 | single nucleotide variant | NM_001126128.2(PROK2):c.205C>T (p.His69Tyr) | Inborn genetic diseases [RCV002896370] | uncertain significance | 3 | 71781484 | 71781484 | Human | 1 | name |
| 329366236 | CV2438268 | single nucleotide variant | NM_001126128.2(PROK2):c.215C>T (p.Thr72Ile) | Inborn genetic diseases [RCV003207646]|PROK2-related disorder [RCV004756496] | uncertain significance | 3 | 71781474 | 71781474 | Human | 2 | name , trait , alternate_id |
| 401752348 | CV2706979 | single nucleotide variant | NM_001126128.2(PROK2):c.227A>G (p.Asn76Ser) | Inborn genetic diseases [RCV003277329] | uncertain significance | 3 | 71774503 | 71774503 | Human | 1 | name |
| 405717718 | CV2852013 | single nucleotide variant | NM_001126128.2(PROK2):c.122G>A (p.Gly41Asp) | Male infertility with spermatogenesis disorder [RCV003991641] | likely pathogenic | 3 | 71781567 | 71781567 | Human | 1 | name |
| 405041409 | CV3141141 | single nucleotide variant | NM_001126128.2(PROK2):c.212T>C (p.Leu71Pro) | not provided [RCV003831434] | uncertain significance | 3 | 71781477 | 71781477 | Human | | name |
| 405277898 | CV3191006 | single nucleotide variant | NM_001126128.2(PROK2):c.296T>C (p.Phe99Ser) | PROK2-related disorder [RCV003904710] | likely benign | 3 | 71772818 | 71772818 | Human | | name , trait , alternate_id |
| 405259018 | CV3194464 | single nucleotide variant | NM_001126128.2(PROK2):c.218G>A (p.Arg73His) | PROK2-related disorder [RCV003893861] | uncertain significance | 3 | 71781471 | 71781471 | Human | | name , trait , alternate_id |
| 405295270 | CV3211239 | single nucleotide variant | NM_001126128.2(PROK2):c.124G>C (p.Gly42Arg) | PROK2-related disorder [RCV003937215] | uncertain significance | 3 | 71781565 | 71781565 | Human | | name , trait , alternate_id |
| 407513426 | CV3461154 | single nucleotide variant | NM_001126128.2(PROK2):c.142G>A (p.Val48Ile) | Inborn genetic diseases [RCV004648818]|PROK2-related disorder [RCV004756572] | uncertain significance | 3 | 71781547 | 71781547 | Human | 2 | name , trait , alternate_id |
| 408366390 | CV3509631 | single nucleotide variant | NM_001126128.2(PROK2):c.116A>G (p.Gln39Arg) | PROK2-related disorder [RCV004756674] | uncertain significance | 3 | 71781573 | 71781573 | Human | | name , trait , alternate_id |
| 408366585 | CV3512415 | single nucleotide variant | NM_001126128.2(PROK2):c.201C>G (p.Ser67Arg) | PROK2-related disorder [RCV004756845] | uncertain significance | 3 | 71781488 | 71781488 | Human | | name , trait , alternate_id |
| 408366773 | CV3515583 | single nucleotide variant | NM_001126128.2(PROK2):c.130A>G (p.Met44Val) | PROK2-related disorder [RCV004756975] | uncertain significance | 3 | 71781559 | 71781559 | Human | | name , trait , alternate_id |
| 598247703 | CV3901201 | single nucleotide variant | NM_001126128.2(PROK2):c.187A>G (p.Lys63Glu) | Inborn genetic diseases [RCV005258677] | uncertain significance | 3 | 71781502 | 71781502 | Human | 1 | name |
| 12895540 | CV406363 | duplication | NM_001126128.2(PROK2):c.297dup (p.Gly100fs) | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV002295299]|PROK2-related disorder [RCV003419793]|not provided [RCV000486838]|not specified [RCV003401531] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 71772816 | 71772817 | Human | 1 | name , trait , alternate_id |
| 150530151 | CV1293369 | single nucleotide variant | NM_001126128.2(PROK2):c.301C>T (p.Arg101Trp) | PROK2-related disorder [RCV003426190]|not provided [RCV001756590] | uncertain significance | 3 | 71772813 | 71772813 | Human | 1 | name , trait , alternate_id |
| 151746461 | CV1374901 | single nucleotide variant | NM_001126128.2(PROK2):c.302G>A (p.Arg101Gln) | PROK2-related disorder [RCV003416596]|not provided [RCV001947649] | uncertain significance | 3 | 71772812 | 71772812 | Human | 1 | name , trait , alternate_id |
| 151889579 | CV1398872 | single nucleotide variant | NM_001126128.2(PROK2):c.364C>T (p.Arg122Ter) | not provided [RCV001942833] | uncertain significance | 3 | 71772750 | 71772750 | Human | | name |
| 401932691 | CV2804388 | single nucleotide variant | NM_001126128.2(PROK2):c.365G>A (p.Arg122Gln) | Inborn genetic diseases [RCV004362881]|PROK2-related disorder [RCV003408779] | uncertain significance | 3 | 71772749 | 71772749 | Human | 2 | name , trait , alternate_id |
| 405718606 | CV2852012 | single nucleotide variant | NM_001126128.2(PROK2):c.313C>T (p.His105Tyr) | Male infertility with spermatogenesis disorder [RCV003991640] | likely pathogenic | 3 | 71772801 | 71772801 | Human | 1 | name |
| 408366560 | CV3511361 | single nucleotide variant | NM_001126128.2(PROK2):c.310C>T (p.His104Tyr) | PROK2-related disorder [RCV004756780] | uncertain significance | 3 | 71772804 | 71772804 | Human | | name , trait , alternate_id |
| 408366692 | CV3513407 | single nucleotide variant | NM_001126128.2(PROK2):c.363C>A (p.Asn121Lys) | PROK2-related disorder [RCV004756892] | uncertain significance | 3 | 71772751 | 71772751 | Human | | name , trait , alternate_id |
| 15118941 | CV683598 | single nucleotide variant | NM_001126128.2(PROK2):c.332C>A (p.Pro111Gln) | not provided [RCV000861407] | benign | 3 | 71772782 | 71772782 | Human | | name |
| 127260257 | CV1059891 | deletion | NM_001126128.2(PROK2):c.100_112del (p.Cys34fs) | not provided [RCV001387313] | pathogenic | 3 | 71781577 | 71781589 | Human | | name |
| 598212916 | CV4009094 | microsatellite | NM_001126128.2(PROK2):c.370_373del (p.Ile124fs) | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV005400777] | likely pathogenic | 3 | 71772741 | 71772744 | Human | | name |
| 408370308 | CV3503023 | microsatellite | NM_001126128.2(PROK2):c.3GAG[3] (p.Arg2_Ser3insArg) | not provided [RCV004724144] | uncertain significance | 3 | 71785044 | 71785045 | Human | | name |
| 8557545 | CV18642 | deletion | NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) | Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000003786]|Inborn genetic diseases [RCV004658957]|Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991567]|PROK2-related disorder [RCV003892107]|not provided [RCV0 00516187] | pathogenic | 3 | 71781526 | 71781526 | Human | 3 | name , trait , alternate_id |
