| 596938249 | CV3550053 | duplication | NM_198968.4(DZIP1):c.37-5dup | Intellectual developmental disorder 61 [RCV004813358] | uncertain significance | 13 | 95641859 | 95641860 | Human | 1 | name |
| 15118099 | CV713984 | single nucleotide variant | NM_198968.4(DZIP1):c.666T>G (p.Thr222=) | not provided [RCV000962315] | benign | 13 | 95633253 | 95633253 | Human | | name |
| 40886508 | CV973088 | single nucleotide variant | NM_198968.4(DZIP1):c.72C>A (p.Ser24Arg) | DZIP1-related disorder [RCV003898253]|Mitral valve prolapse, myxomatous 3 [RCV001265624]|Spermatogenic failure 47 [RCV005360005] | pathogenic|uncertain significance | 13 | 95641820 | 95641820 | Human | 2 | name , trait , alternate_id |
| 329358128 | CV2427951 | single nucleotide variant | NM_198968.4(DZIP1):c.229G>T (p.Val77Leu) | not specified [RCV004254337] | uncertain significance | 13 | 95641663 | 95641663 | Human | | name |
| 405751658 | CV3238182 | single nucleotide variant | NM_198968.4(DZIP1):c.172T>C (p.Phe58Leu) | not specified [RCV004382058] | uncertain significance | 13 | 95641720 | 95641720 | Human | | name |
| 597802812 | CV3670523 | single nucleotide variant | NM_198968.4(DZIP1):c.285C>A (p.Asn95Lys) | not specified [RCV004906873] | uncertain significance | 13 | 95641607 | 95641607 | Human | | name |
| 597802824 | CV3670530 | single nucleotide variant | NM_198968.4(DZIP1):c.147C>G (p.Ser49Arg) | not specified [RCV004906879] | uncertain significance | 13 | 95641745 | 95641745 | Human | | name |
| 598268264 | CV3953822 | single nucleotide variant | NM_198968.4(DZIP1):c.262A>G (p.Thr88Ala) | not specified [RCV005327063] | uncertain significance | 13 | 95641630 | 95641630 | Human | | name |
| 8635091 | CV90313 | single nucleotide variant | NM_014934.4(DZIP1):c.2004G>A (p.Glu668=) | Malignant melanoma [RCV000070411] | not provided | 13 | 95587696 | 95587696 | Human | | name |
| 40886510 | CV973090 | single nucleotide variant | NM_198968.4(DZIP1):c.188G>A (p.Arg63Gln) | Spermatogenic failure 47 [RCV001265626] | pathogenic | 13 | 95641704 | 95641704 | Human | 1 | name |
| 155986396 | CV2345505 | single nucleotide variant | NM_198968.4(DZIP1):c.500C>T (p.Ala167Val) | not specified [RCV004198270] | likely benign | 13 | 95641392 | 95641392 | Human | | name |
| 156176061 | CV2355742 | single nucleotide variant | NM_198968.4(DZIP1):c.371C>T (p.Ala124Val) | not specified [RCV004199101] | uncertain significance | 13 | 95641521 | 95641521 | Human | | name |
| 329368378 | CV2427998 | single nucleotide variant | NM_198968.4(DZIP1):c.629A>G (p.Gln210Arg) | not specified [RCV004254378] | uncertain significance | 13 | 95633290 | 95633290 | Human | | name |
| 329390542 | CV2440309 | single nucleotide variant | NM_198968.4(DZIP1):c.419C>T (p.Ser140Leu) | not specified [RCV004262789] | uncertain significance | 13 | 95641473 | 95641473 | Human | | name |
| 329387537 | CV2470805 | single nucleotide variant | NM_198968.4(DZIP1):c.916G>A (p.Glu306Lys) | not specified [RCV004276020] | uncertain significance | 13 | 95624824 | 95624824 | Human | | name |
| 401855230 | CV2757192 | single nucleotide variant | NM_198968.4(DZIP1):c.574G>C (p.Glu192Gln) | not specified [RCV004338796] | uncertain significance | 13 | 95641318 | 95641318 | Human | | name |
| 401884398 | CV2762564 | single nucleotide variant | NM_198968.4(DZIP1):c.950C>T (p.Ser317Leu) | not specified [RCV004338092] | uncertain significance | 13 | 95624790 | 95624790 | Human | | name |
| 405751751 | CV3238194 | single nucleotide variant | NM_198968.4(DZIP1):c.794C>G (p.Ala265Gly) | not specified [RCV004382070] | uncertain significance | 13 | 95630005 | 95630005 | Human | | name |
| 405751757 | CV3238195 | single nucleotide variant | NM_198968.4(DZIP1):c.821T>G (p.Met274Arg) | not specified [RCV004382071] | uncertain significance | 13 | 95624919 | 95624919 | Human | | name |
| 407477733 | CV3431307 | single nucleotide variant | NM_198968.4(DZIP1):c.460T>G (p.Cys154Gly) | not specified [RCV004617378] | uncertain significance | 13 | 95641432 | 95641432 | Human | | name |
| 407477740 | CV3431308 | single nucleotide variant | NM_198968.4(DZIP1):c.320C>T (p.Pro107Leu) | not specified [RCV004617379] | uncertain significance | 13 | 95641572 | 95641572 | Human | | name |
| 597802818 | CV3670527 | single nucleotide variant | NM_198968.4(DZIP1):c.659G>A (p.Arg220His) | not specified [RCV004906876] | uncertain significance | 13 | 95633260 | 95633260 | Human | | name |
| 597735590 | CV3670532 | single nucleotide variant | NM_198968.4(DZIP1):c.898G>A (p.Glu300Lys) | not specified [RCV004920500] | uncertain significance | 13 | 95624842 | 95624842 | Human | | name |
| 597802828 | CV3670534 | single nucleotide variant | NM_198968.4(DZIP1):c.649A>G (p.Ile217Val) | not specified [RCV004906882] | uncertain significance | 13 | 95633270 | 95633270 | Human | | name |
| 597802830 | CV3670535 | single nucleotide variant | NM_198968.4(DZIP1):c.664A>G (p.Thr222Ala) | not specified [RCV004906883] | uncertain significance | 13 | 95633255 | 95633255 | Human | | name |
| 597802832 | CV3670536 | single nucleotide variant | NM_198968.4(DZIP1):c.538C>T (p.Arg180Trp) | not specified [RCV004906884] | uncertain significance | 13 | 95641354 | 95641354 | Human | | name |
| 598217014 | CV3895288 | single nucleotide variant | NM_198968.4(DZIP1):c.785A>G (p.His262Arg) | Spermatogenic failure 47 [RCV005360180] | uncertain significance | 13 | 95630014 | 95630014 | Human | 1 | name |
| 598268252 | CV3953820 | single nucleotide variant | NM_198968.4(DZIP1):c.459C>G (p.His153Gln) | not specified [RCV005327061] | uncertain significance | 13 | 95641433 | 95641433 | Human | | name |
| 598268259 | CV3953821 | single nucleotide variant | NM_198968.4(DZIP1):c.903G>A (p.Met301Ile) | not specified [RCV005327062] | uncertain significance | 13 | 95624837 | 95624837 | Human | | name |
| 598268274 | CV3953824 | single nucleotide variant | NM_198968.4(DZIP1):c.306A>C (p.Glu102Asp) | not specified [RCV005327065] | uncertain significance | 13 | 95641586 | 95641586 | Human | | name |
| 598268279 | CV3953825 | single nucleotide variant | NM_198968.4(DZIP1):c.463G>A (p.Asp155Asn) | not specified [RCV005327066] | uncertain significance | 13 | 95641429 | 95641429 | Human | | name |
| 40886509 | CV973089 | single nucleotide variant | NM_198968.4(DZIP1):c.690T>G (p.Tyr230Ter) | Spermatogenic failure 47 [RCV001265625] | pathogenic | 13 | 95630109 | 95630109 | Human | 1 | name |
| 155978901 | CV2222773 | single nucleotide variant | NM_198968.4(DZIP1):c.1490C>T (p.Ser497Leu) | not specified [RCV004101614] | uncertain significance | 13 | 95599412 | 95599412 | Human | | name |
| 156018902 | CV2233305 | single nucleotide variant | NM_198968.4(DZIP1):c.2146A>C (p.Thr716Pro) | not specified [RCV004105685] | uncertain significance | 13 | 95587611 | 95587611 | Human | | name |
| 156070968 | CV2251381 | single nucleotide variant | NM_198968.4(DZIP1):c.2321T>A (p.Ile774Asn) | not specified [RCV004117371] | uncertain significance | 13 | 95586034 | 95586034 | Human | | name |
| 156274017 | CV2254720 | single nucleotide variant | NM_198968.4(DZIP1):c.1139C>G (p.Ala380Gly) | not specified [RCV004115196] | uncertain significance | 13 | 95619919 | 95619919 | Human | | name |
| 156360016 | CV2258056 | single nucleotide variant | NM_198968.4(DZIP1):c.2290G>T (p.Val764Phe) | not specified [RCV004129851] | uncertain significance | 13 | 95586065 | 95586065 | Human | | name |
| 156248885 | CV2264028 | single nucleotide variant | NM_198968.4(DZIP1):c.1934G>C (p.Arg645Thr) | not specified [RCV004138048] | uncertain significance | 13 | 95589842 | 95589842 | Human | | name |
| 156335201 | CV2333494 | single nucleotide variant | NM_198968.4(DZIP1):c.2308C>T (p.Pro770Ser) | not specified [RCV004190189] | uncertain significance | 13 | 95586047 | 95586047 | Human | | name |
| 156345544 | CV2382252 | single nucleotide variant | NM_198968.4(DZIP1):c.1727G>T (p.Ser576Ile) | not specified [RCV004228195] | uncertain significance | 13 | 95590395 | 95590395 | Human | | name |
| 156217324 | CV2386144 | single nucleotide variant | NM_198968.4(DZIP1):c.1094A>G (p.Gln365Arg) | not specified [RCV004229192] | uncertain significance | 13 | 95622359 | 95622359 | Human | | name |
| 156089922 | CV2392132 | single nucleotide variant | NM_198968.4(DZIP1):c.1056C>A (p.Asp352Glu) | not specified [RCV004238025] | likely benign | 13 | 95622397 | 95622397 | Human | | name |
| 329388736 | CV2447818 | single nucleotide variant | NM_198968.4(DZIP1):c.1172G>A (p.Arg391Gln) | not specified [RCV004258593] | uncertain significance | 13 | 95619886 | 95619886 | Human | | name |
| 329373915 | CV2452707 | single nucleotide variant | NM_198968.4(DZIP1):c.1992G>T (p.Met664Ile) | not specified [RCV004275258] | uncertain significance | 13 | 95589189 | 95589189 | Human | | name |
| 401726374 | CV2674117 | single nucleotide variant | NM_198968.4(DZIP1):c.2270G>A (p.Arg757His) | not specified [RCV004295523] | likely benign | 13 | 95586085 | 95586085 | Human | | name |
| 401738282 | CV2676190 | single nucleotide variant | NM_198968.4(DZIP1):c.1717G>A (p.Val573Ile) | not specified [RCV004284407] | uncertain significance | 13 | 95590405 | 95590405 | Human | | name |
| 401750600 | CV2715699 | single nucleotide variant | NM_198968.4(DZIP1):c.2283C>G (p.Asn761Lys) | not specified [RCV004328852] | uncertain significance | 13 | 95586072 | 95586072 | Human | | name |
| 401723587 | CV2724955 | single nucleotide variant | NM_198968.4(DZIP1):c.2513C>T (p.Pro838Leu) | not specified [RCV004319719] | uncertain significance | 13 | 95584747 | 95584747 | Human | | name |
| 401855856 | CV2757556 | single nucleotide variant | NM_198968.4(DZIP1):c.2581T>G (p.Trp861Gly) | not specified [RCV004340930] | uncertain significance | 13 | 95582257 | 95582257 | Human | | name |
| 401896105 | CV2777492 | single nucleotide variant | NM_198968.4(DZIP1):c.1745A>G (p.His582Arg) | not specified [RCV004356258] | uncertain significance | 13 | 95590377 | 95590377 | Human | | name |
| 401882237 | CV2793416 | single nucleotide variant | NM_198968.4(DZIP1):c.1720C>A (p.Leu574Ile) | not specified [RCV004362511] | uncertain significance | 13 | 95590402 | 95590402 | Human | | name |
| 405259903 | CV3186469 | single nucleotide variant | NM_198968.4(DZIP1):c.1057C>T (p.Arg353Cys) | not provided [RCV003884228] | uncertain significance | 13 | 95622396 | 95622396 | Human | | name |
| 405751640 | CV3238180 | single nucleotide variant | NM_198968.4(DZIP1):c.1394C>T (p.Ser465Phe) | not specified [RCV004382056] | uncertain significance | 13 | 95609483 | 95609483 | Human | | name |
| 405751649 | CV3238181 | single nucleotide variant | NM_198968.4(DZIP1):c.1688G>A (p.Arg563His) | not specified [RCV004382057] | likely benign | 13 | 95590434 | 95590434 | Human | | name |
| 405751677 | CV3238184 | single nucleotide variant | NM_198968.4(DZIP1):c.1748A>C (p.Lys583Thr) | not specified [RCV004382060] | uncertain significance | 13 | 95590374 | 95590374 | Human | | name |
| 405751683 | CV3238185 | single nucleotide variant | NM_198968.4(DZIP1):c.1865T>A (p.Met622Lys) | not specified [RCV004382061] | uncertain significance | 13 | 95589911 | 95589911 | Human | | name |
| 405751689 | CV3238186 | single nucleotide variant | NM_198968.4(DZIP1):c.1869T>G (p.Asp623Glu) | not specified [RCV004382062] | uncertain significance | 13 | 95589907 | 95589907 | Human | | name |
| 405751699 | CV3238187 | single nucleotide variant | NM_198968.4(DZIP1):c.1942G>A (p.Ala648Thr) | not specified [RCV004382063] | uncertain significance | 13 | 95589834 | 95589834 | Human | | name |
| 405751704 | CV3238188 | single nucleotide variant | NM_198968.4(DZIP1):c.2005C>T (p.Pro669Ser) | not specified [RCV004382064] | uncertain significance | 13 | 95589176 | 95589176 | Human | | name |
| 405751714 | CV3238189 | single nucleotide variant | NM_198968.4(DZIP1):c.2020A>G (p.Thr674Ala) | not specified [RCV004382065] | uncertain significance | 13 | 95589161 | 95589161 | Human | | name |
| 405751721 | CV3238190 | single nucleotide variant | NM_198968.4(DZIP1):c.2276A>G (p.Asn759Ser) | not specified [RCV004382066] | uncertain significance | 13 | 95586079 | 95586079 | Human | | name |
| 405751731 | CV3238191 | single nucleotide variant | NM_198968.4(DZIP1):c.2440C>A (p.Pro814Thr) | not specified [RCV004382067] | uncertain significance | 13 | 95584820 | 95584820 | Human | | name |
| 405751740 | CV3238192 | single nucleotide variant | NM_198968.4(DZIP1):c.2587G>A (p.Asp863Asn) | not specified [RCV004382068] | uncertain significance | 13 | 95582251 | 95582251 | Human | | name |
| 405751743 | CV3238193 | single nucleotide variant | NM_198968.4(DZIP1):c.2593T>G (p.Ser865Ala) | not specified [RCV004382069] | uncertain significance | 13 | 95582245 | 95582245 | Human | | name |
| 407425031 | CV3409314 | single nucleotide variant | NM_198968.4(DZIP1):c.1812T>G (p.Cys604Trp) | not provided [RCV004585245] | benign | 13 | 95590310 | 95590310 | Human | | name |
| 407477716 | CV3431305 | single nucleotide variant | NM_198968.4(DZIP1):c.2057A>C (p.Gln686Pro) | not specified [RCV004617376] | uncertain significance | 13 | 95587700 | 95587700 | Human | | name |
| 407477723 | CV3431306 | single nucleotide variant | NM_198968.4(DZIP1):c.1064C>T (p.Pro355Leu) | not specified [RCV004617377] | uncertain significance | 13 | 95622389 | 95622389 | Human | | name |
| 408383930 | CV3506126 | single nucleotide variant | NM_198968.4(DZIP1):c.1490C>G (p.Ser497Trp) | DZIP1-related disorder [RCV004731411] | uncertain significance | 13 | 95599412 | 95599412 | Human | | name , trait , alternate_id |
| 597802814 | CV3670524 | single nucleotide variant | NM_198968.4(DZIP1):c.1879A>T (p.Thr627Ser) | not specified [RCV004906874] | uncertain significance | 13 | 95589897 | 95589897 | Human | | name |
| 597802816 | CV3670525 | single nucleotide variant | NM_198968.4(DZIP1):c.2371G>C (p.Asp791His) | not specified [RCV004906875] | uncertain significance | 13 | 95584889 | 95584889 | Human | | name |
| 597735585 | CV3670526 | single nucleotide variant | NM_198968.4(DZIP1):c.2236C>T (p.Pro746Ser) | not specified [RCV004920499] | uncertain significance | 13 | 95586119 | 95586119 | Human | | name |
| 597802820 | CV3670528 | single nucleotide variant | NM_198968.4(DZIP1):c.1207A>G (p.Met403Val) | not specified [RCV004906877] | uncertain significance | 13 | 95612144 | 95612144 | Human | | name |
| 597802822 | CV3670529 | single nucleotide variant | NM_198968.4(DZIP1):c.2035C>T (p.Pro679Ser) | not specified [RCV004906878] | uncertain significance | 13 | 95587722 | 95587722 | Human | | name |
| 597802826 | CV3670531 | single nucleotide variant | NM_198968.4(DZIP1):c.2216C>T (p.Ala739Val) | not specified [RCV004906880] | uncertain significance | 13 | 95587541 | 95587541 | Human | | name |
| 598268242 | CV3953818 | single nucleotide variant | NM_198968.4(DZIP1):c.1939A>G (p.Lys647Glu) | not specified [RCV005327059] | uncertain significance | 13 | 95589837 | 95589837 | Human | | name |
| 598268247 | CV3953819 | single nucleotide variant | NM_198968.4(DZIP1):c.2293G>A (p.Gly765Ser) | not specified [RCV005327060] | uncertain significance | 13 | 95586062 | 95586062 | Human | | name |
| 598268269 | CV3953823 | single nucleotide variant | NM_198968.4(DZIP1):c.2087C>T (p.Ala696Val) | not specified [RCV005327064] | uncertain significance | 13 | 95587670 | 95587670 | Human | | name |
| 598268285 | CV3953826 | single nucleotide variant | NM_198968.4(DZIP1):c.1519C>T (p.Leu507Phe) | not specified [RCV005327067] | uncertain significance | 13 | 95599383 | 95599383 | Human | | name |
| 598268290 | CV3953827 | single nucleotide variant | NM_198968.4(DZIP1):c.1573A>G (p.Met525Val) | not specified [RCV005327068] | uncertain significance | 13 | 95594051 | 95594051 | Human | | name |
| 15199918 | CV702743 | single nucleotide variant | NM_198968.4(DZIP1):c.1990A>T (p.Met664Leu) | not provided [RCV000957180] | benign | 13 | 95589191 | 95589191 | Human | | name |
| 8635090 | CV90312 | single nucleotide variant | NM_014934.4(DZIP1):c.2005G>A (p.Asp669Asn) | Malignant melanoma [RCV000070410] | not provided | 13 | 95587695 | 95587695 | Human | | name |
| 8635092 | CV90314 | single nucleotide variant | NM_014934.4(DZIP1):c.1681G>A (p.Glu561Lys) | Malignant melanoma [RCV000070412] | not provided | 13 | 95590384 | 95590384 | Human | | name |
| 151736619 | CV1463619 | single nucleotide variant | NM_173543.3(DZIP1L):c.586+3G>A | not provided [RCV001911477] | uncertain significance | 3 | 138097760 | 138097760 | Human | | name |
| 156417050 | CV1970178 | single nucleotide variant | NM_173543.3(DZIP1L):c.709-8C>T | not provided [RCV002590006] | likely benign | 3 | 138092552 | 138092552 | Human | | name |
| 404986569 | CV3135461 | single nucleotide variant | NM_173543.3(DZIP1L):c.870+1G>A | not provided [RCV003826756] | likely pathogenic | 3 | 138092382 | 138092382 | Human | | name |
| 596930062 | CV3538675 | single nucleotide variant | NM_173543.3(DZIP1L):c.871-2A>G | not provided [RCV004792144] | uncertain significance | 3 | 138088509 | 138088509 | Human | | name |
| 150449099 | CV1273589 | single nucleotide variant | NM_173543.3(DZIP1L):c.709-14G>A | not provided [RCV001691689] | benign | 3 | 138092558 | 138092558 | Human | | name |
| 151717996 | CV1483615 | single nucleotide variant | NM_173543.3(DZIP1L):c.2003-3C>G | not provided [RCV001909256] | uncertain significance | 3 | 138064770 | 138064770 | Human | | name |
| 152132967 | CV1546994 | single nucleotide variant | NM_173543.3(DZIP1L):c.502-13C>G | not provided [RCV002155785] | likely benign | 3 | 138097860 | 138097860 | Human | | name |
| 152095756 | CV1597386 | single nucleotide variant | NM_173543.3(DZIP1L):c.502-12C>A | not provided [RCV002114675] | likely benign | 3 | 138097859 | 138097859 | Human | | name |
| 156188972 | CV1882728 | single nucleotide variant | NM_173543.3(DZIP1L):c.1833-7G>C | not provided [RCV003083810] | likely benign | 3 | 138067707 | 138067707 | Human | | name |
| 156370783 | CV1905241 | single nucleotide variant | NM_173543.3(DZIP1L):c.1833-8C>T | DZIP1L-related disorder [RCV003906518]|not provided [RCV002582397] | likely benign | 3 | 138067708 | 138067708 | Human | 1 | name , trait , alternate_id |
| 156364886 | CV1912898 | single nucleotide variant | NM_173543.3(DZIP1L):c.1833-7G>A | DZIP1L-related disorder [RCV003946292]|not provided [RCV002602752] | likely benign | 3 | 138067707 | 138067707 | Human | 1 | name , trait , alternate_id |
| 156406199 | CV1963516 | single nucleotide variant | NM_173543.3(DZIP1L):c.587-14C>T | not provided [RCV002585824] | likely benign | 3 | 138094997 | 138094997 | Human | | name |
| 156328496 | CV1969773 | single nucleotide variant | NM_173543.3(DZIP1L):c.586+20C>T | not provided [RCV002600659] | likely benign | 3 | 138097743 | 138097743 | Human | | name |
| 156265097 | CV1993875 | single nucleotide variant | NM_173543.3(DZIP1L):c.871-10G>T | not provided [RCV002646347] | likely benign | 3 | 138088517 | 138088517 | Human | | name |
| 156402627 | CV2010100 | single nucleotide variant | NM_173543.3(DZIP1L):c.1203+6T>C | not provided [RCV002726142] | uncertain significance | 3 | 138084107 | 138084107 | Human | | name |
| 156207087 | CV2040267 | single nucleotide variant | NM_173543.3(DZIP1L):c.709-20G>A | not provided [RCV002790097] | likely benign | 3 | 138092564 | 138092564 | Human | | name |
| 156218266 | CV2047747 | single nucleotide variant | NM_173543.3(DZIP1L):c.870+17G>A | not provided [RCV002790531] | benign | 3 | 138092366 | 138092366 | Human | | name |
| 155940058 | CV2054884 | single nucleotide variant | NM_173543.3(DZIP1L):c.2143-7C>G | not provided [RCV002815632] | likely benign | 3 | 138062984 | 138062984 | Human | | name |
| 155942501 | CV2068342 | single nucleotide variant | NM_173543.3(DZIP1L):c.871-14C>T | not provided [RCV002839507] | likely benign | 3 | 138088521 | 138088521 | Human | | name |
| 156006696 | CV2127438 | single nucleotide variant | NM_173543.3(DZIP1L):c.1422+5G>A | not provided [RCV002948054] | likely benign | 3 | 138077494 | 138077494 | Human | | name |
| 155950450 | CV2133118 | single nucleotide variant | NM_173543.3(DZIP1L):c.1616-3C>T | not provided [RCV002994597] | uncertain significance | 3 | 138068370 | 138068370 | Human | | name |
| 401856156 | CV2752349 | single nucleotide variant | NM_173543.3(DZIP1L):c.1000-4T>C | Polycystic kidney disease 5 [RCV003340685] | uncertain significance | 3 | 138087027 | 138087027 | Human | 1 | name |
| 405139267 | CV3130866 | single nucleotide variant | NM_173543.3(DZIP1L):c.999+10T>C | not provided [RCV003839100] | likely benign | 3 | 138088369 | 138088369 | Human | | name |
| 405291521 | CV3205764 | single nucleotide variant | NM_173543.3(DZIP1L):c.1063-5G>T | DZIP1L-related disorder [RCV003963898] | likely benign | 3 | 138084258 | 138084258 | Human | | name , trait , alternate_id |
| 597682801 | CV3724307 | single nucleotide variant | NM_173543.3(DZIP1L):c.1289-6C>G | Polycystic kidney disease 5 [RCV005031257] | uncertain significance | 3 | 138077638 | 138077638 | Human | 1 | name |
| 597897915 | CV3744567 | single nucleotide variant | NM_173543.3(DZIP1L):c.1288+7C>A | not provided [RCV005071845] | likely benign | 3 | 138080560 | 138080560 | Human | | name |
| 15157331 | CV730189 | single nucleotide variant | NM_173543.3(DZIP1L):c.1832+8C>A | not provided [RCV000880800] | benign | 3 | 138068143 | 138068143 | Human | | name |
| 150507107 | CV1211092 | single nucleotide variant | NM_173543.3(DZIP1L):c.1616-73A>G | not provided [RCV001596210] | benign | 3 | 138068440 | 138068440 | Human | | name |
| 150506299 | CV1213744 | single nucleotide variant | NM_173543.3(DZIP1L):c.870+124A>T | not provided [RCV001596001] | benign | 3 | 138092259 | 138092259 | Human | | name |
| 150443767 | CV1249323 | single nucleotide variant | NM_173543.3(DZIP1L):c.2003-91A>G | not provided [RCV001666755] | benign | 3 | 138064858 | 138064858 | Human | | name |
| 150437763 | CV1249925 | single nucleotide variant | NM_173543.3(DZIP1L):c.1289-94C>T | not provided [RCV001665839] | benign | 3 | 138077726 | 138077726 | Human | | name |
| 150507309 | CV1256901 | single nucleotide variant | NM_173543.3(DZIP1L):c.1204-50T>C | not provided [RCV001678404] | benign | 3 | 138081814 | 138081814 | Human | | name |
| 150509104 | CV1284452 | single nucleotide variant | NM_173543.3(DZIP1L):c.1235-36A>G | not provided [RCV001720560] | benign | 3 | 138080656 | 138080656 | Human | | name |
| 150509127 | CV1284458 | single nucleotide variant | NM_173543.3(DZIP1L):c.502-128T>G | not provided [RCV001720566] | benign | 3 | 138097975 | 138097975 | Human | | name |
| 150509151 | CV1284464 | single nucleotide variant | NM_173543.3(DZIP1L):c.502-189G>A | not provided [RCV001720572] | benign | 3 | 138098036 | 138098036 | Human | | name |
| 152112844 | CV1542057 | single nucleotide variant | NM_173543.3(DZIP1L):c.1422+18C>T | not provided [RCV002116781] | benign | 3 | 138077481 | 138077481 | Human | | name |
| 152092429 | CV1571171 | single nucleotide variant | NM_173543.3(DZIP1L):c.1234+19C>T | not provided [RCV002150763] | likely benign | 3 | 138081715 | 138081715 | Human | | name |
| 152074485 | CV1635256 | single nucleotide variant | NM_173543.3(DZIP1L):c.2143-10C>T | not provided [RCV002092039] | likely benign | 3 | 138062987 | 138062987 | Human | | name |
| 156239316 | CV1952929 | single nucleotide variant | NM_173543.3(DZIP1L):c.2143-18C>T | not provided [RCV002576164] | likely benign | 3 | 138062995 | 138062995 | Human | | name |
| 156254154 | CV2041189 | single nucleotide variant | NM_173543.3(DZIP1L):c.1616-19T>C | not provided [RCV002806110] | likely benign | 3 | 138068386 | 138068386 | Human | | name |
| 156346711 | CV2051935 | single nucleotide variant | NM_173543.3(DZIP1L):c.1423-13C>T | not provided [RCV002811503] | likely benign | 3 | 138071848 | 138071848 | Human | | name |
| 156135337 | CV2113284 | single nucleotide variant | NM_173543.3(DZIP1L):c.2003-10C>A | DZIP1L-related disorder [RCV003961245]|not provided [RCV002928356] | benign|likely benign | 3 | 138064777 | 138064777 | Human | 1 | name , trait , alternate_id |
| 156089772 | CV2155573 | single nucleotide variant | NM_173543.3(DZIP1L):c.1289-19T>C | not provided [RCV003020640] | likely benign | 3 | 138077651 | 138077651 | Human | | name |
| 402507457 | CV2982377 | deletion | NM_173543.3(DZIP1L):c.2143-12del | not provided [RCV003689122] | likely benign | 3 | 138062989 | 138062989 | Human | | name |
| 404977018 | CV3117496 | single nucleotide variant | NM_173543.3(DZIP1L):c.1062+11T>C | not provided [RCV003825268] | likely benign | 3 | 138086950 | 138086950 | Human | | name |
| 405189275 | CV3121385 | single nucleotide variant | NM_173543.3(DZIP1L):c.1423-11G>C | not provided [RCV003820841] | likely benign | 3 | 138071846 | 138071846 | Human | | name |
| 405086663 | CV3122107 | single nucleotide variant | NM_173543.3(DZIP1L):c.1204-17A>C | not provided [RCV003810862] | likely benign | 3 | 138081781 | 138081781 | Human | | name |
| 404992711 | CV3132403 | single nucleotide variant | NM_173543.3(DZIP1L):c.1063-16A>G | not provided [RCV003827342] | likely benign | 3 | 138084269 | 138084269 | Human | | name |
| 404987950 | CV3179777 | single nucleotide variant | NM_173543.3(DZIP1L):c.1235-20A>G | not provided [RCV003881254] | likely benign | 3 | 138080640 | 138080640 | Human | | name |
| 597845071 | CV3736237 | single nucleotide variant | NM_173543.3(DZIP1L):c.2002+15T>G | not provided [RCV005065585] | likely benign | 3 | 138067516 | 138067516 | Human | | name |
| 150495695 | CV1225139 | single nucleotide variant | NM_173543.3(DZIP1L):c.2143-104T>G | not provided [RCV001619617] | benign | 3 | 138063081 | 138063081 | Human | | name |
| 150494273 | CV1226127 | single nucleotide variant | NM_173543.3(DZIP1L):c.1423-166G>A | not provided [RCV001619346] | benign | 3 | 138072001 | 138072001 | Human | | name |
| 150478217 | CV1250851 | single nucleotide variant | NM_173543.3(DZIP1L):c.1289-233G>A | not provided [RCV001672340] | benign | 3 | 138077865 | 138077865 | Human | | name |
| 150457969 | CV1260214 | single nucleotide variant | NM_173543.3(DZIP1L):c.1288+118T>A | not provided [RCV001681694] | benign | 3 | 138080449 | 138080449 | Human | | name |
| 150459032 | CV1263952 | single nucleotide variant | NM_173543.3(DZIP1L):c.1615+199G>A | not provided [RCV001681866] | benign | 3 | 138071444 | 138071444 | Human | | name |
| 150466669 | CV1268812 | single nucleotide variant | NM_173543.3(DZIP1L):c.1833-154C>T | not provided [RCV001694509] | benign | 3 | 138067854 | 138067854 | Human | | name |
| 150509115 | CV1284455 | single nucleotide variant | NM_173543.3(DZIP1L):c.1616-146A>G | not provided [RCV001720563] | benign | 3 | 138068513 | 138068513 | Human | | name |
| 401923579 | CV2803190 | deletion | NM_173543.3(DZIP1L):c.703_708+8del | DZIP1L-related disorder [RCV003404412] | uncertain significance | 3 | 138094854 | 138094867 | Human | | name , trait , alternate_id |
| 402522647 | CV3127016 | duplication | NM_173543.3(DZIP1L):c.708+17_708+18dup | not provided [RCV003824934] | likely benign | 3 | 138094843 | 138094844 | Human | | name |
| 150497416 | CV1281345 | microsatellite | NM_173543.3(DZIP1L):c.1833-69_1833-67del | not provided [RCV001717848] | benign | 3 | 138067767 | 138067769 | Human | | name |
| 126726224 | CV1016177 | single nucleotide variant | NM_173543.3(DZIP1L):c.2300G>A (p.Trp767Ter) | DZIP1L-related disorder [RCV004754879]|not provided [RCV002462663] | pathogenic|uncertain significance | 3 | 138062820 | 138062820 | Human | 1 | name , trait , alternate_id |
| 126726225 | CV1016178 | single nucleotide variant | NM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter) | DZIP1L-related disorder [RCV004754732]|Polycystic kidney disease 5 [RCV001331851] | likely pathogenic | 3 | 138092526 | 138092526 | Human | 1 | name , trait , alternate_id |
| 151816696 | CV1433197 | single nucleotide variant | NM_173543.3(DZIP1L):c.2194C>T (p.Leu732=) | DZIP1L-related disorder [RCV003923396]|not provided [RCV001954352] | likely benign | 3 | 138062926 | 138062926 | Human | 1 | name , trait , alternate_id |
| 151741965 | CV1470154 | single nucleotide variant | NM_173543.3(DZIP1L):c.1927C>T (p.Arg643Trp) | DZIP1L-related disorder [RCV003911068]|not provided [RCV001871104] | uncertain significance | 3 | 138067606 | 138067606 | Human | 1 | name , trait , alternate_id |
| 152142939 | CV1538323 | single nucleotide variant | NM_173543.3(DZIP1L):c.710A>G (p.Glu237Gly) | DZIP1L-related disorder [RCV003968828]|Inborn genetic diseases [RCV003006979]|not provided [RCV002219616] | likely benign|uncertain significance | 3 | 138092543 | 138092543 | Human | 2 | name , trait , alternate_id |
| 152129955 | CV1584400 | single nucleotide variant | NM_173543.3(DZIP1L):c.1484G>A (p.Arg495Gln) | DZIP1L-related disorder [RCV003968709]|not provided [RCV002082729] | benign|likely benign | 3 | 138071774 | 138071774 | Human | 1 | name , trait , alternate_id |
| 156027353 | CV1893316 | single nucleotide variant | NM_173543.3(DZIP1L):c.2288G>C (p.Arg763Thr) | DZIP1L-related disorder [RCV003953868]|Inborn genetic diseases [RCV004978566]|not provided [RCV003077934] | benign|likely benign | 3 | 138062832 | 138062832 | Human | 2 | name , trait , alternate_id |
| 156130190 | CV1924699 | single nucleotide variant | NM_173543.3(DZIP1L):c.1739A>G (p.His580Arg) | DZIP1L-related disorder [RCV003936624]|not provided [RCV002640680] | benign|likely benign | 3 | 138068244 | 138068244 | Human | 1 | name , trait , alternate_id |
| 156415810 | CV1987563 | single nucleotide variant | NM_173543.3(DZIP1L):c.2214G>A (p.Glu738=) | DZIP1L-related disorder [RCV003971347]|not provided [RCV002609847] | likely benign | 3 | 138062906 | 138062906 | Human | 1 | name , trait , alternate_id |
| 156147048 | CV2090935 | single nucleotide variant | NM_173543.3(DZIP1L):c.1339C>T (p.Arg447Cys) | DZIP1L-related disorder [RCV003936326]|not provided [RCV002890523] | benign|likely benign | 3 | 138077582 | 138077582 | Human | 1 | name , trait , alternate_id |
| 405087837 | CV3047845 | single nucleotide variant | NM_173543.3(DZIP1L):c.135C>T (p.Arg45=) | DZIP1L-related disorder [RCV003981071]|not provided [RCV003717538] | likely benign | 3 | 138103837 | 138103837 | Human | 1 | name , trait , alternate_id |
| 405273112 | CV3197662 | single nucleotide variant | NM_173543.3(DZIP1L):c.1483C>T (p.Arg495Trp) | DZIP1L-related disorder [RCV003901630]|Inborn genetic diseases [RCV004981136] | uncertain significance | 3 | 138071775 | 138071775 | Human | 2 | name , trait , alternate_id |
| 405286088 | CV3209799 | single nucleotide variant | NM_173543.3(DZIP1L):c.2097C>T (p.Pro699=) | DZIP1L-related disorder [RCV003959349] | likely benign | 3 | 138064673 | 138064673 | Human | | name , trait , alternate_id |
| 405295486 | CV3216074 | single nucleotide variant | NM_173543.3(DZIP1L):c.2040G>A (p.Lys680=) | DZIP1L-related disorder [RCV003937410] | likely benign | 3 | 138064730 | 138064730 | Human | | name , trait , alternate_id |
| 405292788 | CV3217311 | single nucleotide variant | NM_173543.3(DZIP1L):c.345G>A (p.Leu115=) | DZIP1L-related disorder [RCV003964709] | likely benign | 3 | 138103627 | 138103627 | Human | | name , trait , alternate_id |
| 405267739 | CV3219422 | single nucleotide variant | NM_173543.3(DZIP1L):c.1836G>T (p.Thr612=) | DZIP1L-related disorder [RCV003969653] | likely benign | 3 | 138067697 | 138067697 | Human | | name , trait , alternate_id |
| 408384700 | CV3503350 | deletion | NM_173543.3(DZIP1L):c.802_805del (p.Asp268fs) | DZIP1L-related disorder [RCV004732032] | pathogenic | 3 | 138092448 | 138092451 | Human | | name , trait , alternate_id |
| 408365687 | CV3509334 | single nucleotide variant | NM_173543.3(DZIP1L):c.580G>C (p.Glu194Gln) | DZIP1L-related disorder [RCV004755210] | uncertain significance | 3 | 138097769 | 138097769 | Human | | name , trait , alternate_id |
| 408365766 | CV3510268 | single nucleotide variant | NM_173543.3(DZIP1L):c.925C>T (p.Arg309Ter) | DZIP1L-related disorder [RCV004755280]|not provided [RCV005103735] | pathogenic | 3 | 138088453 | 138088453 | Human | 1 | name , trait , alternate_id |
| 408365897 | CV3511331 | single nucleotide variant | NM_173543.3(DZIP1L):c.1721G>A (p.Arg574His) | DZIP1L-related disorder [RCV004755352] | uncertain significance | 3 | 138068262 | 138068262 | Human | | name , trait , alternate_id |
| 408366189 | CV3515770 | single nucleotide variant | NM_173543.3(DZIP1L):c.1560G>T (p.Ala520=) | DZIP1L-related disorder [RCV004755611] | likely benign | 3 | 138071698 | 138071698 | Human | | name , trait , alternate_id |
| 408380484 | CV3517775 | single nucleotide variant | NM_173543.3(DZIP1L):c.1850C>T (p.Ser617Phe) | DZIP1L-related disorder [RCV004754206] | likely benign | 3 | 138067683 | 138067683 | Human | | name , trait , alternate_id |
| 15196240 | CV697857 | single nucleotide variant | NM_173543.3(DZIP1L):c.2233C>T (p.Arg745Cys) | DZIP1L-related disorder [RCV003960669]|not provided [RCV000956140] | benign|likely benign | 3 | 138062887 | 138062887 | Human | 1 | name , trait , alternate_id |
| 15189133 | CV697858 | single nucleotide variant | NM_173543.3(DZIP1L):c.1401C>T (p.Leu467=) | DZIP1L-related disorder [RCV003925996]|not provided [RCV000954087] | benign|likely benign | 3 | 138077520 | 138077520 | Human | 1 | name , trait , alternate_id |
| 15171854 | CV720204 | single nucleotide variant | NM_173543.3(DZIP1L):c.1770C>A (p.Pro590=) | DZIP1L-related disorder [RCV003910431]|not provided [RCV000883728] | benign|likely benign | 3 | 138068213 | 138068213 | Human | 1 | name , trait , alternate_id |
| 15197085 | CV720206 | single nucleotide variant | NM_173543.3(DZIP1L):c.883C>T (p.Leu295=) | DZIP1L-related disorder [RCV003968108]|not provided [RCV000889956] | benign | 3 | 138088495 | 138088495 | Human | 1 | name , trait , alternate_id |
| 15123794 | CV733824 | single nucleotide variant | NM_173543.3(DZIP1L):c.2284C>T (p.Pro762Ser) | DZIP1L-related disorder [RCV003958059]|not provided [RCV000896472] | benign|likely benign | 3 | 138062836 | 138062836 | Human | 1 | name , trait , alternate_id |
| 15127440 | CV733825 | single nucleotide variant | NM_173543.3(DZIP1L):c.1387C>T (p.Leu463=) | DZIP1L-related disorder [RCV003922889]|not provided [RCV000897111] | likely benign | 3 | 138077534 | 138077534 | Human | 1 | name , trait , alternate_id |
| 15147829 | CV733826 | single nucleotide variant | NM_173543.3(DZIP1L):c.1079A>G (p.Gln360Arg) | DZIP1L-related disorder [RCV004754619]|not provided [RCV000900601] | likely benign | 3 | 138084237 | 138084237 | Human | 1 | name , trait , alternate_id |
| 405751836 | CV3238208 | single nucleotide variant | NM_173543.3(DZIP1L):c.6G>T (p.Gln2His) | Inborn genetic diseases [RCV004382084] | uncertain significance | 3 | 138103966 | 138103966 | Human | 1 | name |
| 152116552 | CV1553463 | single nucleotide variant | NM_173543.3(DZIP1L):c.369G>A (p.Gln123=) | not provided [RCV002080973] | likely benign | 3 | 138103603 | 138103603 | Human | | name |
| 405131835 | CV3051190 | single nucleotide variant | NM_173543.3(DZIP1L):c.573C>T (p.Gly191=) | not provided [RCV003724895] | likely benign | 3 | 138097776 | 138097776 | Human | | name |
| 404977051 | CV3127078 | single nucleotide variant | NM_173543.3(DZIP1L):c.981A>G (p.Arg327=) | not provided [RCV003825301] | likely benign | 3 | 138088397 | 138088397 | Human | | name |
| 405751802 | CV3238202 | single nucleotide variant | NM_173543.3(DZIP1L):c.34A>C (p.Ser12Arg) | Inborn genetic diseases [RCV004382078] | uncertain significance | 3 | 138103938 | 138103938 | Human | 1 | name |
| 597933689 | CV3793441 | single nucleotide variant | NM_173543.3(DZIP1L):c.756T>C (p.Phe252=) | not provided [RCV005132097] | likely benign | 3 | 138092497 | 138092497 | Human | | name |
| 597944567 | CV3847913 | single nucleotide variant | NM_173543.3(DZIP1L):c.495C>T (p.Tyr165=) | not provided [RCV005188643] | likely benign | 3 | 138103477 | 138103477 | Human | | name |
| 126735963 | CV1000379 | single nucleotide variant | NM_173543.3(DZIP1L):c.1698G>A (p.Pro566=) | not provided [RCV001311627] | likely benign | 3 | 138068285 | 138068285 | Human | | name |
| 150491621 | CV1225333 | single nucleotide variant | NM_173543.3(DZIP1L):c.1770C>T (p.Pro590=) | not provided [RCV001618848] | benign | 3 | 138068213 | 138068213 | Human | | name |
| 150553779 | CV1304110 | single nucleotide variant | NM_173543.3(DZIP1L):c.256G>T (p.Val86Leu) | Polycystic kidney disease 5 [RCV002477985]|not provided [RCV001769495] | uncertain significance | 3 | 138103716 | 138103716 | Human | 1 | name |
| 151765239 | CV1393692 | single nucleotide variant | NM_173543.3(DZIP1L):c.288C>A (p.Tyr96Ter) | not provided [RCV002008309] | uncertain significance | 3 | 138103684 | 138103684 | Human | | name |
| 151784375 | CV1508542 | single nucleotide variant | NM_173543.3(DZIP1L):c.211G>A (p.Val71Met) | not provided [RCV002010033] | uncertain significance | 3 | 138103761 | 138103761 | Human | | name |
| 156418682 | CV1918621 | single nucleotide variant | NM_173543.3(DZIP1L):c.1653C>G (p.Ala551=) | not provided [RCV002611885] | likely benign | 3 | 138068330 | 138068330 | Human | | name |
| 156337601 | CV1976963 | single nucleotide variant | NM_173543.3(DZIP1L):c.1065A>G (p.Leu355=) | not provided [RCV002601113] | likely benign | 3 | 138084251 | 138084251 | Human | | name |
| 156196453 | CV2038281 | single nucleotide variant | NM_173543.3(DZIP1L):c.142C>T (p.Arg48Trp) | Inborn genetic diseases [RCV002766083]|not provided [RCV002766082] | uncertain significance | 3 | 138103830 | 138103830 | Human | 1 | name |
| 155993654 | CV2095622 | single nucleotide variant | NM_173543.3(DZIP1L):c.1281A>G (p.Pro427=) | not provided [RCV002908280] | likely benign | 3 | 138080574 | 138080574 | Human | | name |
| 156006715 | CV2099786 | single nucleotide variant | NM_173543.3(DZIP1L):c.1968G>A (p.Ser656=) | not provided [RCV002908891] | likely benign | 3 | 138067565 | 138067565 | Human | | name |
| 156215079 | CV2110886 | single nucleotide variant | NM_173543.3(DZIP1L):c.1782C>T (p.Pro594=) | not provided [RCV002932227] | likely benign | 3 | 138068201 | 138068201 | Human | | name |
| 156390585 | CV2122458 | single nucleotide variant | NM_173543.3(DZIP1L):c.1803C>T (p.Ser601=) | not provided [RCV002943863] | benign | 3 | 138068180 | 138068180 | Human | | name |
| 156099062 | CV2132193 | single nucleotide variant | NM_173543.3(DZIP1L):c.110G>A (p.Arg37His) | not provided [RCV003002144] | uncertain significance | 3 | 138103862 | 138103862 | Human | | name |
| 155941372 | CV2142961 | single nucleotide variant | NM_173543.3(DZIP1L):c.2274C>T (p.Ser758=) | not provided [RCV002994075] | likely benign | 3 | 138062846 | 138062846 | Human | | name |
| 156289169 | CV2309658 | single nucleotide variant | NM_173543.3(DZIP1L):c.217A>G (p.Ser73Gly) | Inborn genetic diseases [RCV002897047] | uncertain significance | 3 | 138103755 | 138103755 | Human | 1 | name |
| 156209935 | CV2382698 | single nucleotide variant | NM_173543.3(DZIP1L):c.205C>T (p.Arg69Trp) | Inborn genetic diseases [RCV002744004]|not provided [RCV004790464] | uncertain significance | 3 | 138103767 | 138103767 | Human | 1 | name |
| 401912719 | CV2824970 | single nucleotide variant | NM_173543.3(DZIP1L):c.1005G>A (p.Thr335=) | not provided [RCV003427419] | likely benign | 3 | 138087018 | 138087018 | Human | | name |
| 402503587 | CV2869381 | single nucleotide variant | NM_173543.3(DZIP1L):c.1842G>A (p.Pro614=) | not provided [RCV003546062] | likely benign | 3 | 138067691 | 138067691 | Human | | name |
| 405094600 | CV3022597 | single nucleotide variant | NM_173543.3(DZIP1L):c.1860C>T (p.Asp620=) | not provided [RCV003699887] | likely benign | 3 | 138067673 | 138067673 | Human | | name |
| 405153444 | CV3031539 | single nucleotide variant | NM_173543.3(DZIP1L):c.1902A>T (p.Pro634=) | not provided [RCV003703401] | likely benign | 3 | 138067631 | 138067631 | Human | | name |
| 405208014 | CV3065316 | single nucleotide variant | NM_173543.3(DZIP1L):c.1593C>G (p.Ser531=) | not provided [RCV003731590] | likely benign | 3 | 138071665 | 138071665 | Human | | name |
| 405236808 | CV3169029 | single nucleotide variant | NM_173543.3(DZIP1L):c.1734C>A (p.Gly578=) | not provided [RCV003866308] | likely benign | 3 | 138068249 | 138068249 | Human | | name |
| 405751779 | CV3238198 | single nucleotide variant | NM_173543.3(DZIP1L):c.176T>C (p.Ile59Thr) | Inborn genetic diseases [RCV004382074] | uncertain significance | 3 | 138103796 | 138103796 | Human | 1 | name |
| 596930065 | CV3538676 | single nucleotide variant | NM_173543.3(DZIP1L):c.145G>C (p.Glu49Gln) | not provided [RCV004792145] | uncertain significance | 3 | 138103827 | 138103827 | Human | | name |
| 597666127 | CV3670542 | single nucleotide variant | NM_173543.3(DZIP1L):c.277A>G (p.Ile93Val) | Inborn genetic diseases [RCV004979447] | uncertain significance | 3 | 138103695 | 138103695 | Human | 1 | name |
| 597966211 | CV3859071 | single nucleotide variant | NM_173543.3(DZIP1L):c.2268A>G (p.Pro756=) | not provided [RCV005194466] | likely benign | 3 | 138062852 | 138062852 | Human | | name |
| 598227344 | CV3894496 | single nucleotide variant | NM_173543.3(DZIP1L):c.1375C>T (p.Leu459=) | not provided [RCV005257739] | likely benign | 3 | 138077546 | 138077546 | Human | | name |
| 598268312 | CV3953833 | single nucleotide variant | NM_173543.3(DZIP1L):c.136G>A (p.Val46Met) | Inborn genetic diseases [RCV005327074] | uncertain significance | 3 | 138103836 | 138103836 | Human | 1 | name |
| 13210855 | CV424952 | single nucleotide variant | NM_173543.3(DZIP1L):c.269C>T (p.Ala90Val) | Polycystic kidney disease 5 [RCV000496993] | pathogenic | 3 | 138103703 | 138103703 | Human | 1 | name |
| 13217151 | CV424953 | single nucleotide variant | NM_173543.3(DZIP1L):c.273G>C (p.Gln91His) | Polycystic kidney disease 5 [RCV000496986] | pathogenic | 3 | 138103699 | 138103699 | Human | 1 | name |
| 15113870 | CV720205 | single nucleotide variant | NM_173543.3(DZIP1L):c.1017A>G (p.Arg339=) | Polycystic kidney disease 5 [RCV002495414]|not provided [RCV000894752] | likely benign | 3 | 138087006 | 138087006 | Human | 1 | name |
| 150496701 | CV1245296 | single nucleotide variant | NM_173543.3(DZIP1L):c.961C>T (p.Arg321Trp) | Polycystic kidney disease 5 [RCV001659264]|not provided [RCV001676067] | benign | 3 | 138088417 | 138088417 | Human | 1 | name |
| 151750914 | CV1378019 | single nucleotide variant | NM_173543.3(DZIP1L):c.482G>T (p.Gly161Val) | Inborn genetic diseases [RCV002548184]|not provided [RCV002043275] | uncertain significance | 3 | 138103490 | 138103490 | Human | 1 | name |
| 151834733 | CV1452819 | single nucleotide variant | NM_173543.3(DZIP1L):c.391C>T (p.Arg131Cys) | Inborn genetic diseases [RCV002551684]|not provided [RCV001880657] | uncertain significance | 3 | 138103581 | 138103581 | Human | 1 | name |
| 151787485 | CV1495581 | single nucleotide variant | NM_173543.3(DZIP1L):c.569C>T (p.Ala190Val) | not provided [RCV002026874] | uncertain significance | 3 | 138097780 | 138097780 | Human | | name |
| 155803932 | CV1858500 | single nucleotide variant | NM_173543.3(DZIP1L):c.621G>C (p.Glu207Asp) | not provided [RCV002462810] | uncertain significance | 3 | 138094949 | 138094949 | Human | | name |
| 156320743 | CV1873060 | single nucleotide variant | NM_173543.3(DZIP1L):c.434G>A (p.Arg145Gln) | not provided [RCV003063045] | benign | 3 | 138103538 | 138103538 | Human | | name |
| 156362120 | CV1899092 | single nucleotide variant | NM_173543.3(DZIP1L):c.544C>T (p.Arg182Trp) | not provided [RCV003091782] | uncertain significance | 3 | 138097805 | 138097805 | Human | | name |
| 156446812 | CV1948174 | single nucleotide variant | NM_173543.3(DZIP1L):c.396G>C (p.Gln132His) | not provided [RCV003118331] | uncertain significance | 3 | 138103576 | 138103576 | Human | | name |
| 156232956 | CV2039917 | single nucleotide variant | NM_173543.3(DZIP1L):c.698G>A (p.Arg233Gln) | not provided [RCV002805384] | uncertain significance | 3 | 138094872 | 138094872 | Human | | name |
| 156102157 | CV2088055 | single nucleotide variant | NM_173543.3(DZIP1L):c.881C>A (p.Ala294Glu) | not provided [RCV002848123] | uncertain significance | 3 | 138088497 | 138088497 | Human | | name |
| 156100100 | CV2099228 | single nucleotide variant | NM_173543.3(DZIP1L):c.860C>T (p.Thr287Ile) | Inborn genetic diseases [RCV002913370]|not provided [RCV002913369] | uncertain significance | 3 | 138092393 | 138092393 | Human | 1 | name |
| 156285598 | CV2114847 | single nucleotide variant | NM_173543.3(DZIP1L):c.370C>T (p.Arg124Cys) | Inborn genetic diseases [RCV005333385]|not provided [RCV002921939] | uncertain significance | 3 | 138103602 | 138103602 | Human | 1 | name |
| 156357295 | CV2126161 | single nucleotide variant | NM_173543.3(DZIP1L):c.686C>T (p.Ala229Val) | not provided [RCV002966751] | benign | 3 | 138094884 | 138094884 | Human | | name |
| 156213708 | CV2142156 | single nucleotide variant | NM_173543.3(DZIP1L):c.437G>A (p.Arg146His) | not provided [RCV002985698] | uncertain significance | 3 | 138103535 | 138103535 | Human | | name |
| 156161213 | CV2147392 | single nucleotide variant | NM_173543.3(DZIP1L):c.346C>A (p.Gln116Lys) | not provided [RCV003023200] | uncertain significance | 3 | 138103626 | 138103626 | Human | | name |
| 156320069 | CV2197217 | single nucleotide variant | NM_173543.3(DZIP1L):c.431G>A (p.Arg144His) | Inborn genetic diseases [RCV002649096] | uncertain significance | 3 | 138103541 | 138103541 | Human | 1 | name |
| 155981310 | CV2212237 | single nucleotide variant | NM_173543.3(DZIP1L):c.430C>T (p.Arg144Cys) | Inborn genetic diseases [RCV002688394] | uncertain significance | 3 | 138103542 | 138103542 | Human | 1 | name |
| 156377613 | CV2217069 | single nucleotide variant | NM_173543.3(DZIP1L):c.574G>A (p.Val192Met) | Inborn genetic diseases [RCV002678048] | likely benign | 3 | 138097775 | 138097775 | Human | 1 | name |
| 156339866 | CV2229360 | single nucleotide variant | NM_173543.3(DZIP1L):c.833T>A (p.Phe278Tyr) | Inborn genetic diseases [RCV002718991] | uncertain significance | 3 | 138092420 | 138092420 | Human | 1 | name |
| 156007816 | CV2288378 | single nucleotide variant | NM_173543.3(DZIP1L):c.607C>G (p.Gln203Glu) | Inborn genetic diseases [RCV002865927] | uncertain significance | 3 | 138094963 | 138094963 | Human | 1 | name |
| 401734646 | CV2690642 | single nucleotide variant | NM_173543.3(DZIP1L):c.693G>T (p.Arg231Ser) | Inborn genetic diseases [RCV003249542] | uncertain significance | 3 | 138094877 | 138094877 | Human | 1 | name |
| 401888000 | CV2768949 | single nucleotide variant | NM_173543.3(DZIP1L):c.910A>C (p.Lys304Gln) | Inborn genetic diseases [RCV003352694] | uncertain significance | 3 | 138088468 | 138088468 | Human | 1 | name |
| 401868694 | CV2781941 | single nucleotide variant | NM_173543.3(DZIP1L):c.322G>A (p.Val108Ile) | Inborn genetic diseases [RCV003360530] | likely benign | 3 | 138103650 | 138103650 | Human | 1 | name |
| 405751810 | CV3238203 | single nucleotide variant | NM_173543.3(DZIP1L):c.392G>A (p.Arg131His) | Inborn genetic diseases [RCV004382079] | uncertain significance | 3 | 138103580 | 138103580 | Human | 1 | name |
| 405751820 | CV3238205 | single nucleotide variant | NM_173543.3(DZIP1L):c.560G>A (p.Arg187His) | Inborn genetic diseases [RCV004382081] | uncertain significance | 3 | 138097789 | 138097789 | Human | 1 | name |
| 405751827 | CV3238206 | single nucleotide variant | NM_173543.3(DZIP1L):c.604G>C (p.Glu202Gln) | Inborn genetic diseases [RCV004382082] | uncertain significance | 3 | 138094966 | 138094966 | Human | 1 | name |
| 405751832 | CV3238207 | single nucleotide variant | NM_173543.3(DZIP1L):c.637C>T (p.Arg213Trp) | Inborn genetic diseases [RCV004382083] | uncertain significance | 3 | 138094933 | 138094933 | Human | 1 | name |
| 405751843 | CV3238209 | single nucleotide variant | NM_173543.3(DZIP1L):c.725A>G (p.His242Arg) | Inborn genetic diseases [RCV004382085] | likely benign | 3 | 138092528 | 138092528 | Human | 1 | name |
| 405751851 | CV3238210 | single nucleotide variant | NM_173543.3(DZIP1L):c.823T>C (p.Trp275Arg) | Inborn genetic diseases [RCV004382086] | uncertain significance | 3 | 138092430 | 138092430 | Human | 1 | name |
| 405751857 | CV3238211 | single nucleotide variant | NM_173543.3(DZIP1L):c.877C>T (p.Arg293Trp) | Inborn genetic diseases [RCV004382087] | uncertain significance | 3 | 138088501 | 138088501 | Human | 1 | name |
| 407477747 | CV3431309 | single nucleotide variant | NM_173543.3(DZIP1L):c.982G>A (p.Glu328Lys) | Inborn genetic diseases [RCV004617380] | uncertain significance | 3 | 138088396 | 138088396 | Human | 1 | name |
| 407477751 | CV3431310 | single nucleotide variant | NM_173543.3(DZIP1L):c.418C>T (p.Arg140Trp) | Inborn genetic diseases [RCV004617381] | uncertain significance | 3 | 138103554 | 138103554 | Human | 1 | name |
| 597666110 | CV3670538 | single nucleotide variant | NM_173543.3(DZIP1L):c.451A>G (p.Ser151Gly) | Inborn genetic diseases [RCV004979444] | uncertain significance | 3 | 138103521 | 138103521 | Human | 1 | name |
| 597666129 | CV3670543 | single nucleotide variant | NM_173543.3(DZIP1L):c.926G>A (p.Arg309Gln) | Inborn genetic diseases [RCV004979448] | uncertain significance | 3 | 138088452 | 138088452 | Human | 1 | name |
| 597666154 | CV3670547 | single nucleotide variant | NM_173543.3(DZIP1L):c.631G>A (p.Glu211Lys) | Inborn genetic diseases [RCV004979452] | uncertain significance | 3 | 138094939 | 138094939 | Human | 1 | name |
| 597666160 | CV3670548 | single nucleotide variant | NM_173543.3(DZIP1L):c.862C>G (p.Leu288Val) | Inborn genetic diseases [RCV004979453] | uncertain significance | 3 | 138092391 | 138092391 | Human | 1 | name |
| 597666163 | CV3670549 | single nucleotide variant | NM_173543.3(DZIP1L):c.422A>C (p.Glu141Ala) | Inborn genetic diseases [RCV004979454] | uncertain significance | 3 | 138103550 | 138103550 | Human | 1 | name |
| 597914952 | CV3817603 | single nucleotide variant | NM_173543.3(DZIP1L):c.341G>A (p.Arg114Gln) | not provided [RCV005154805] | uncertain significance | 3 | 138103631 | 138103631 | Human | | name |
| 597876294 | CV3829809 | single nucleotide variant | NM_173543.3(DZIP1L):c.492C>G (p.Ser164Arg) | not provided [RCV005177517] | uncertain significance | 3 | 138103480 | 138103480 | Human | | name |
| 598268315 | CV3953834 | single nucleotide variant | NM_173543.3(DZIP1L):c.598A>G (p.Lys200Glu) | Inborn genetic diseases [RCV005327075] | uncertain significance | 3 | 138094972 | 138094972 | Human | 1 | name |
| 598268319 | CV3953835 | single nucleotide variant | NM_173543.3(DZIP1L):c.482G>A (p.Gly161Asp) | Inborn genetic diseases [RCV005327076] | uncertain significance | 3 | 138103490 | 138103490 | Human | 1 | name |
| 13217153 | CV424954 | single nucleotide variant | NM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter) | Polycystic kidney disease 5 [RCV000496990] | pathogenic | 3 | 138103509 | 138103509 | Human | 1 | name |
| 15144126 | CV733827 | single nucleotide variant | NM_173543.3(DZIP1L):c.529A>G (p.Asn177Asp) | not provided [RCV000899951] | likely benign | 3 | 138097820 | 138097820 | Human | | name |
| 150336557 | CV1165653 | single nucleotide variant | NM_173543.3(DZIP1L):c.1783G>A (p.Gly595Arg) | not provided [RCV001532007] | uncertain significance | 3 | 138068200 | 138068200 | Human | | name |
| 150492313 | CV1225449 | single nucleotide variant | NM_173543.3(DZIP1L):c.1652C>T (p.Ala551Val) | not provided [RCV001618964] | benign | 3 | 138068331 | 138068331 | Human | | name |
| 150493088 | CV1238601 | single nucleotide variant | NM_173543.3(DZIP1L):c.1778G>A (p.Arg593His) | Polycystic kidney disease 5 [RCV001658388]|not provided [RCV001655145] | benign | 3 | 138068205 | 138068205 | Human | 1 | name |
| 150483468 | CV1245116 | single nucleotide variant | NM_173543.3(DZIP1L):c.1933A>G (p.Lys645Glu) | Polycystic kidney disease 5 [RCV001659248]|not provided [RCV001653293] | benign | 3 | 138067600 | 138067600 | Human | 1 | name |
| 150435508 | CV1245295 | single nucleotide variant | NM_173543.3(DZIP1L):c.1633A>G (p.Thr545Ala) | Polycystic kidney disease 5 [RCV001659263]|not provided [RCV001707913] | benign | 3 | 138068350 | 138068350 | Human | 1 | name |
| 151857337 | CV1347363 | single nucleotide variant | NM_173543.3(DZIP1L):c.1966T>G (p.Ser656Ala) | not provided [RCV002033936] | uncertain significance | 3 | 138067567 | 138067567 | Human | | name |
| 151744188 | CV1404638 | single nucleotide variant | NM_173543.3(DZIP1L):c.2273G>A (p.Ser758Asn) | Inborn genetic diseases [RCV004046061]|not provided [RCV002022632] | uncertain significance | 3 | 138062847 | 138062847 | Human | 1 | name |
| 151792551 | CV1422938 | single nucleotide variant | NM_173543.3(DZIP1L):c.1709C>A (p.Pro570His) | not provided [RCV001916958] | uncertain significance | 3 | 138068274 | 138068274 | Human | | name |
| 151815825 | CV1432893 | single nucleotide variant | NM_173543.3(DZIP1L):c.2246C>A (p.Pro749Gln) | not provided [RCV001954272] | uncertain significance | 3 | 138062874 | 138062874 | Human | | name |
| 152069537 | CV1571039 | single nucleotide variant | NM_173543.3(DZIP1L):c.1238T>A (p.Ile413Asn) | Inborn genetic diseases [RCV004046301]|not provided [RCV002129424] | likely benign|uncertain significance | 3 | 138080617 | 138080617 | Human | 1 | name |
| 152061453 | CV1611104 | single nucleotide variant | NM_173543.3(DZIP1L):c.1784G>A (p.Gly595Glu) | not provided [RCV002146824] | benign | 3 | 138068199 | 138068199 | Human | | name |
| 152176590 | CV1631613 | single nucleotide variant | NM_173543.3(DZIP1L):c.1830G>A (p.Met610Ile) | Inborn genetic diseases [RCV002553003]|not provided [RCV002164736] | likely benign|uncertain significance | 3 | 138068153 | 138068153 | Human | 1 | name |
| 152146874 | CV1655984 | single nucleotide variant | NM_173543.3(DZIP1L):c.1277C>T (p.Ser426Phe) | not provided [RCV002220187] | benign | 3 | 138080578 | 138080578 | Human | | name |
| 156334802 | CV1905911 | single nucleotide variant | NM_173543.3(DZIP1L):c.1874G>A (p.Arg625His) | not provided [RCV003090006] | uncertain significance | 3 | 138067659 | 138067659 | Human | | name |
| 156024488 | CV1922335 | single nucleotide variant | NM_173543.3(DZIP1L):c.1541A>G (p.Lys514Arg) | Inborn genetic diseases [RCV002636872]|not provided [RCV002611766] | uncertain significance | 3 | 138071717 | 138071717 | Human | 1 | name |
| 156304150 | CV1931182 | single nucleotide variant | NM_173543.3(DZIP1L):c.1499G>A (p.Arg500Gln) | not provided [RCV002647797] | uncertain significance | 3 | 138071759 | 138071759 | Human | | name |
| 156444263 | CV1937791 | single nucleotide variant | NM_173543.3(DZIP1L):c.1697C>T (p.Pro566Leu) | not provided [RCV003115186] | uncertain significance | 3 | 138068286 | 138068286 | Human | | name |
| 156442131 | CV1938033 | single nucleotide variant | NM_173543.3(DZIP1L):c.1765G>A (p.Ala589Thr) | Inborn genetic diseases [RCV004244630]|not provided [RCV003112468] | likely benign|uncertain significance | 3 | 138068218 | 138068218 | Human | 1 | name |
| 156337574 | CV1976962 | single nucleotide variant | NM_173543.3(DZIP1L):c.1720C>T (p.Arg574Cys) | Inborn genetic diseases [RCV005333266]|not provided [RCV002601112] | uncertain significance | 3 | 138068263 | 138068263 | Human | 1 | name |
| 156196746 | CV2004863 | single nucleotide variant | NM_173543.3(DZIP1L):c.1130C>T (p.Ser377Phe) | not provided [RCV002643492] | uncertain significance | 3 | 138084186 | 138084186 | Human | | name |
| 156123831 | CV2012238 | single nucleotide variant | NM_173543.3(DZIP1L):c.2002G>T (p.Gly668Ter) | not provided [RCV002696142] | pathogenic|uncertain significance | 3 | 138067531 | 138067531 | Human | | name |
| 156025998 | CV2020264 | single nucleotide variant | NM_173543.3(DZIP1L):c.2045T>C (p.Leu682Pro) | not provided [RCV002691229] | uncertain significance | 3 | 138064725 | 138064725 | Human | | name |
| 156227486 | CV2048412 | single nucleotide variant | NM_173543.3(DZIP1L):c.2089T>G (p.Phe697Val) | Inborn genetic diseases [RCV004973650]|not provided [RCV002790867] | uncertain significance | 3 | 138064681 | 138064681 | Human | 1 | name |
| 156309086 | CV2085858 | single nucleotide variant | NM_173543.3(DZIP1L):c.2255T>G (p.Phe752Cys) | not provided [RCV002898608] | uncertain significance | 3 | 138062865 | 138062865 | Human | | name |
| 156108951 | CV2096616 | single nucleotide variant | NM_173543.3(DZIP1L):c.1882C>T (p.Arg628Cys) | Inborn genetic diseases [RCV002913699]|not provided [RCV002913698] | uncertain significance | 3 | 138067651 | 138067651 | Human | 1 | name |
| 155921160 | CV2102410 | single nucleotide variant | NM_173543.3(DZIP1L):c.1537G>C (p.Val513Leu) | not provided [RCV002903361] | uncertain significance | 3 | 138071721 | 138071721 | Human | | name |
| 156091801 | CV2102706 | single nucleotide variant | NM_173543.3(DZIP1L):c.1414A>T (p.Ile472Leu) | not provided [RCV002913066] | uncertain significance | 3 | 138077507 | 138077507 | Human | | name |
| 156123615 | CV2107813 | single nucleotide variant | NM_173543.3(DZIP1L):c.1243A>G (p.Lys415Glu) | not provided [RCV002914266] | uncertain significance | 3 | 138080612 | 138080612 | Human | | name |
| 156321013 | CV2112017 | single nucleotide variant | NM_173543.3(DZIP1L):c.1681G>T (p.Ala561Ser) | not provided [RCV002937750] | benign | 3 | 138068302 | 138068302 | Human | | name |
| 156374465 | CV2123961 | single nucleotide variant | NM_173543.3(DZIP1L):c.1498C>T (p.Arg500Trp) | Inborn genetic diseases [RCV003170644]|not provided [RCV002942592] | uncertain significance | 3 | 138071760 | 138071760 | Human | 1 | name |
| 156233104 | CV2137158 | single nucleotide variant | NM_173543.3(DZIP1L):c.1771G>A (p.Ala591Thr) | not provided [RCV003007815] | uncertain significance | 3 | 138068212 | 138068212 | Human | | name |
| 156182361 | CV2243017 | single nucleotide variant | NM_173543.3(DZIP1L):c.1987C>T (p.Pro663Ser) | Inborn genetic diseases [RCV002802356] | uncertain significance | 3 | 138067546 | 138067546 | Human | 1 | name |
| 155989660 | CV2244283 | single nucleotide variant | NM_173543.3(DZIP1L):c.1873C>T (p.Arg625Cys) | Inborn genetic diseases [RCV002733196] | uncertain significance | 3 | 138067660 | 138067660 | Human | 1 | name |
| 156219755 | CV2254086 | single nucleotide variant | NM_173543.3(DZIP1L):c.2117C>A (p.Ala706Asp) | Inborn genetic diseases [RCV002804650] | uncertain significance | 3 | 138064653 | 138064653 | Human | 1 | name |
| 156360800 | CV2269110 | single nucleotide variant | NM_173543.3(DZIP1L):c.1543G>C (p.Glu515Gln) | Inborn genetic diseases [RCV002812792] | uncertain significance | 3 | 138071715 | 138071715 | Human | 1 | name |
| 156032729 | CV2275043 | single nucleotide variant | NM_173543.3(DZIP1L):c.2234G>A (p.Arg745His) | Inborn genetic diseases [RCV002845499] | uncertain significance | 3 | 138062886 | 138062886 | Human | 1 | name |
| 155916275 | CV2282002 | single nucleotide variant | NM_173543.3(DZIP1L):c.1216T>C (p.Ser406Pro) | Inborn genetic diseases [RCV002859007] | uncertain significance | 3 | 138081752 | 138081752 | Human | 1 | name |
| 156272832 | CV2308879 | single nucleotide variant | NM_173543.3(DZIP1L):c.1558G>A (p.Ala520Thr) | Inborn genetic diseases [RCV002934449] | uncertain significance | 3 | 138071700 | 138071700 | Human | 1 | name |
| 156280762 | CV2316004 | single nucleotide variant | NM_173543.3(DZIP1L):c.1742G>T (p.Gly581Val) | Inborn genetic diseases [RCV002934923] | uncertain significance | 3 | 138068241 | 138068241 | Human | 1 | name |
| 156163062 | CV2323581 | single nucleotide variant | NM_173543.3(DZIP1L):c.1081A>G (p.Arg361Gly) | Inborn genetic diseases [RCV002929396] | uncertain significance | 3 | 138084235 | 138084235 | Human | 1 | name |
| 156163081 | CV2323582 | single nucleotide variant | NM_173543.3(DZIP1L):c.1825G>T (p.Gly609Trp) | Inborn genetic diseases [RCV002929397] | uncertain significance | 3 | 138068158 | 138068158 | Human | 1 | name |
| 155901840 | CV2345879 | single nucleotide variant | NM_173543.3(DZIP1L):c.2239A>G (p.Lys747Glu) | Inborn genetic diseases [RCV002989879] | uncertain significance | 3 | 138062881 | 138062881 | Human | 1 | name |
| 156169716 | CV2400506 | single nucleotide variant | NM_173543.3(DZIP1L):c.1825G>A (p.Gly609Arg) | Inborn genetic diseases [RCV002765219]|Polycystic kidney disease 5 [RCV003340657] | uncertain significance | 3 | 138068158 | 138068158 | Human | 2 | name |
| 243049565 | CV2416838 | single nucleotide variant | NM_173543.3(DZIP1L):c.2047G>T (p.Glu683Ter) | not specified [RCV003151510] | uncertain significance | 3 | 138064723 | 138064723 | Human | | name |
| 329363384 | CV2465073 | single nucleotide variant | NM_173543.3(DZIP1L):c.1193A>C (p.Gln398Pro) | Inborn genetic diseases [RCV003206369] | uncertain significance | 3 | 138084123 | 138084123 | Human | 1 | name |
| 401741420 | CV2680403 | single nucleotide variant | NM_173543.3(DZIP1L):c.1570C>G (p.Gln524Glu) | Inborn genetic diseases [RCV003251452] | uncertain significance | 3 | 138071688 | 138071688 | Human | 1 | name |
| 401758430 | CV2694099 | single nucleotide variant | NM_173543.3(DZIP1L):c.1835C>T (p.Thr612Met) | Inborn genetic diseases [RCV003279731] | uncertain significance | 3 | 138067698 | 138067698 | Human | 1 | name |
| 401889337 | CV2759780 | single nucleotide variant | NM_173543.3(DZIP1L):c.1920G>A (p.Met640Ile) | Inborn genetic diseases [RCV003353845] | uncertain significance | 3 | 138067613 | 138067613 | Human | 1 | name |
| 401879346 | CV2791484 | single nucleotide variant | NM_173543.3(DZIP1L):c.1091C>G (p.Ala364Gly) | Inborn genetic diseases [RCV003384628] | uncertain significance | 3 | 138084225 | 138084225 | Human | 1 | name |
| 405074728 | CV3140692 | single nucleotide variant | NM_173543.3(DZIP1L):c.1072G>T (p.Glu358Ter) | not provided [RCV003833655] | pathogenic | 3 | 138084244 | 138084244 | Human | | name |
| 405236043 | CV3166408 | single nucleotide variant | NM_173543.3(DZIP1L):c.1650G>C (p.Glu550Asp) | not provided [RCV003853857] | uncertain significance | 3 | 138068333 | 138068333 | Human | | name |
| 405709775 | CV3225617 | single nucleotide variant | NM_173543.3(DZIP1L):c.2014C>T (p.Gln672Ter) | Polycystic kidney disease 5 [RCV003990674] | likely pathogenic | 3 | 138064756 | 138064756 | Human | 1 | name |
| 405751764 | CV3238196 | single nucleotide variant | NM_173543.3(DZIP1L):c.1148C>T (p.Thr383Ile) | Inborn genetic diseases [RCV004382072] | uncertain significance | 3 | 138084168 | 138084168 | Human | 1 | name |
| 405751770 | CV3238197 | single nucleotide variant | NM_173543.3(DZIP1L):c.1745C>G (p.Ser582Cys) | Inborn genetic diseases [RCV004382073] | uncertain significance | 3 | 138068238 | 138068238 | Human | 1 | name |
| 405751785 | CV3238199 | single nucleotide variant | NM_173543.3(DZIP1L):c.1796C>T (p.Pro599Leu) | Inborn genetic diseases [RCV004382075] | uncertain significance | 3 | 138068187 | 138068187 | Human | 1 | name |
| 405751793 | CV3238200 | single nucleotide variant | NM_173543.3(DZIP1L):c.1817C>T (p.Ser606Leu) | Inborn genetic diseases [RCV004382076] | uncertain significance | 3 | 138068166 | 138068166 | Human | 1 | name |
| 405751796 | CV3238201 | single nucleotide variant | NM_173543.3(DZIP1L):c.2204A>G (p.Asp735Gly) | Inborn genetic diseases [RCV004382077] | uncertain significance | 3 | 138062916 | 138062916 | Human | 1 | name |
| 407428961 | CV3413348 | single nucleotide variant | NM_173543.3(DZIP1L):c.1570C>T (p.Gln524Ter) | Polycystic kidney disease 5 [RCV004594754] | likely pathogenic | 3 | 138071688 | 138071688 | Human | 1 | name |
| 407477756 | CV3431311 | single nucleotide variant | NM_173543.3(DZIP1L):c.1459C>A (p.Leu487Met) | Inborn genetic diseases [RCV004617382] | uncertain significance | 3 | 138071799 | 138071799 | Human | 1 | name |
| 407477761 | CV3431312 | single nucleotide variant | NM_173543.3(DZIP1L):c.1154G>A (p.Arg385His) | Inborn genetic diseases [RCV004617383] | uncertain significance | 3 | 138084162 | 138084162 | Human | 1 | name |
| 407477765 | CV3431313 | single nucleotide variant | NM_173543.3(DZIP1L):c.1021G>C (p.Val341Leu) | Inborn genetic diseases [RCV004617384] | uncertain significance | 3 | 138087002 | 138087002 | Human | 1 | name |
| 597666106 | CV3670537 | single nucleotide variant | NM_173543.3(DZIP1L):c.1841C>T (p.Pro614Leu) | Inborn genetic diseases [RCV004979443] | uncertain significance | 3 | 138067692 | 138067692 | Human | 1 | name |
| 597666115 | CV3670540 | single nucleotide variant | NM_173543.3(DZIP1L):c.1028A>G (p.Glu343Gly) | Inborn genetic diseases [RCV004979445] | uncertain significance | 3 | 138086995 | 138086995 | Human | 1 | name |
| 597666121 | CV3670541 | single nucleotide variant | NM_173543.3(DZIP1L):c.2068G>A (p.Ala690Thr) | Inborn genetic diseases [RCV004979446] | uncertain significance | 3 | 138064702 | 138064702 | Human | 1 | name |
| 597666135 | CV3670544 | single nucleotide variant | NM_173543.3(DZIP1L):c.1885G>T (p.Val629Leu) | Inborn genetic diseases [RCV004979449] | uncertain significance | 3 | 138067648 | 138067648 | Human | 1 | name |
| 597666141 | CV3670545 | single nucleotide variant | NM_173543.3(DZIP1L):c.1313A>G (p.Gln438Arg) | Inborn genetic diseases [RCV004979450] | uncertain significance | 3 | 138077608 | 138077608 | Human | 1 | name |
| 597666147 | CV3670546 | single nucleotide variant | NM_173543.3(DZIP1L):c.1300T>A (p.Ser434Thr) | Inborn genetic diseases [RCV004979451] | uncertain significance | 3 | 138077621 | 138077621 | Human | 1 | name |
| 597666168 | CV3670551 | single nucleotide variant | NM_173543.3(DZIP1L):c.1994A>G (p.Gln665Arg) | Inborn genetic diseases [RCV004979455] | likely benign | 3 | 138067539 | 138067539 | Human | 1 | name |
| 597666173 | CV3670552 | single nucleotide variant | NM_173543.3(DZIP1L):c.1987C>G (p.Pro663Ala) | Inborn genetic diseases [RCV004979456] | uncertain significance | 3 | 138067546 | 138067546 | Human | 1 | name |
| 597713287 | CV3724306 | single nucleotide variant | NM_173543.3(DZIP1L):c.1681G>A (p.Ala561Thr) | Polycystic kidney disease 5 [RCV005035014] | uncertain significance | 3 | 138068302 | 138068302 | Human | 1 | name |
| 598268295 | CV3953828 | single nucleotide variant | NM_173543.3(DZIP1L):c.2018C>T (p.Ser673Leu) | Inborn genetic diseases [RCV005327069] | uncertain significance | 3 | 138064752 | 138064752 | Human | 1 | name |
| 598268299 | CV3953829 | single nucleotide variant | NM_173543.3(DZIP1L):c.1227G>T (p.Lys409Asn) | Inborn genetic diseases [RCV005327070] | uncertain significance | 3 | 138081741 | 138081741 | Human | 1 | name |
| 598268301 | CV3953830 | single nucleotide variant | NM_173543.3(DZIP1L):c.1445A>T (p.Gln482Leu) | Inborn genetic diseases [RCV005327071] | uncertain significance | 3 | 138071813 | 138071813 | Human | 1 | name |
| 598268306 | CV3953831 | single nucleotide variant | NM_173543.3(DZIP1L):c.1805C>T (p.Thr602Ile) | Inborn genetic diseases [RCV005327072] | uncertain significance | 3 | 138068178 | 138068178 | Human | 1 | name |
| 8630615 | CV85770 | single nucleotide variant | NM_173543.2(DZIP1L):c.1811C>T (p.Pro604Leu) | Malignant melanoma [RCV000065853] | not provided | 3 | 138068172 | 138068172 | Human | | name |
| 597936790 | CV3759846 | microsatellite | NM_173543.3(DZIP1L):c.857_858del (p.Ser286fs) | not provided [RCV005076768] | pathogenic | 3 | 138092395 | 138092396 | Human | | name |
| 243049564 | CV2416837 | microsatellite | NM_173543.3(DZIP1L):c.1268_1269del (p.Glu423fs) | not provided [RCV003151509] | likely pathogenic | 3 | 138080586 | 138080587 | Human | | name |
| 13217155 | CV424955 | microsatellite | NM_173543.3(DZIP1L):c.1061_1062del (p.Glu354fs) | Polycystic kidney disease 5 [RCV000496995] | pathogenic | 3 | 138086961 | 138086962 | Human | | name |