| 156058299 | CV2396454 | single nucleotide variant | NM_005663.5(NELFA):c.-8C>T | not specified [RCV004242165] | uncertain significance | 4 | 2008967 | 2008967 | Human | | name |
| 598254420 | CV3990738 | single nucleotide variant | NM_005663.5(NELFA):c.-6C>T | not specified [RCV005385500] | uncertain significance | 4 | 2008965 | 2008965 | Human | | name |
| 329395210 | CV2458210 | single nucleotide variant | NM_198976.4(NELFCD):c.-3A>G | not specified [RCV004265873] | uncertain significance | 20 | 58981307 | 58981307 | Human | | name |
| 401780807 | CV2723654 | single nucleotide variant | NM_198976.4(NELFCD):c.-9G>C | not specified [RCV004325832] | uncertain significance | 20 | 58981301 | 58981301 | Human | | name |
| 405813259 | CV3349914 | single nucleotide variant | NM_198976.4(NELFCD):c.-23C>T | not specified [RCV004483767] | uncertain significance | 20 | 58981287 | 58981287 | Human | | name |
| 405813286 | CV3349928 | single nucleotide variant | NM_198976.4(NELFCD):c.-20G>A | not specified [RCV004483781] | uncertain significance | 20 | 58981290 | 58981290 | Human | | name |
| 597639575 | CV3556007 | single nucleotide variant | NM_198976.4(NELFCD):c.-11C>T | not specified [RCV004831858] | uncertain significance | 20 | 58981299 | 58981299 | Human | | name |
| 15168359 | CV730418 | single nucleotide variant | NM_002904.6(NELFE):c.76-6T>A | not provided [RCV000883047] | likely benign | 6 | 31957016 | 31957016 | Human | | name |
| 15138918 | CV744147 | single nucleotide variant | NM_005663.5(NELFA):c.383-6C>T | not provided [RCV000899063] | likely benign | 4 | 1989875 | 1989875 | Human | | name |
| 15159197 | CV759306 | single nucleotide variant | NM_005663.5(NELFA):c.211-4G>C | not provided [RCV000925231] | likely benign | 4 | 1991719 | 1991719 | Human | | name |
| 15157347 | CV730278 | duplication | NM_005663.5(NELFA):c.925-10dup | NELFA-related disorder [RCV003930526]|not provided [RCV000880803] | benign|likely benign | 4 | 1984928 | 1984929 | Human | | name , trait , alternate_id |
| 15108199 | CV730279 | single nucleotide variant | NM_005663.5(NELFA):c.924+10G>A | NELFA-related disorder [RCV003950425]|not provided [RCV000893622] | likely benign | 4 | 1985766 | 1985766 | Human | | name , trait , alternate_id |
| 15115148 | CV774936 | single nucleotide variant | NM_005663.5(NELFA):c.383-10T>G | not provided [RCV000939436] | likely benign | 4 | 1989879 | 1989879 | Human | | name |
| 15140165 | CV779960 | single nucleotide variant | NM_198976.4(NELFCD):c.1344+10C>T | not provided [RCV000966092] | benign | 20 | 58993122 | 58993122 | Human | | name |
| 152107394 | CV1661889 | microsatellite | NM_001130969.3(NSMF):c.1132-22_1132-15del | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV002486893]|not provided [RCV002116100] | benign|likely benign | 9 | 137452601 | 137452608 | Human | | alternate_id |
| 8569995 | CV17563 | single nucleotide variant | NM_001130969.3(NSMF):c.1438A>G (p.Thr480Ala) | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV000030872] | risk factor | 9 | 137449656 | 137449656 | Human | 1 | alternate_id |
| 8569996 | CV17564 | deletion | NM_001130969.3(NSMF):c.1132-23_1132-15del | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV000030873] | risk factor | 9 | 137452601 | 137452609 | Human | 1 | alternate_id |
| 243055384 | CV2408384 | single nucleotide variant | NM_001130969.3(NSMF):c.194C>A (p.Pro65His) | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV003131833] | uncertain significance | 9 | 137457841 | 137457841 | Human | 1 | alternate_id |
| 405867340 | CV3394311 | single nucleotide variant | NM_001130969.3(NSMF):c.919G>C (p.Asp307His) | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV004566428] | uncertain significance | 9 | 137453734 | 137453734 | Human | 1 | alternate_id |
| 597714540 | CV3726276 | single nucleotide variant | NM_001130969.3(NSMF):c.383G>A (p.Arg128Gln) | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV005049030] | uncertain significance | 9 | 137457652 | 137457652 | Human | 1 | alternate_id |
| 598227643 | CV3896011 | single nucleotide variant | NM_001130969.3(NSMF):c.779+182A>G | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV005362270] | likely benign | 9 | 137455057 | 137455057 | Human | 1 | alternate_id |
| 598208678 | CV4007751 | single nucleotide variant | NM_001130969.3(NSMF):c.586C>G (p.Arg196Gly) | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV005400065] | uncertain significance | 9 | 137457449 | 137457449 | Human | 1 | alternate_id |
| 12906556 | CV415184 | single nucleotide variant | NM_001130969.3(NSMF):c.241G>A (p.Gly81Ser) | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV005398709]|NSMF-related disorder [RCV003419822]|not provided [RCV000489361]|not specified [RCV004649175] | uncertain significance | 9 | 137457794 | 137457794 | Human | 1 | alternate_id |
| 15112364 | CV626009 | single nucleotide variant | NM_001130969.3(NSMF):c.1261C>T (p.Leu421Phe) | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV000859992] | uncertain significance | 9 | 137450231 | 137450231 | Human | 1 | alternate_id |
| 38463912 | CV919214 | single nucleotide variant | NM_001130969.3(NSMF):c.586C>T (p.Arg196Cys) | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV001199027] | uncertain significance | 9 | 137457449 | 137457449 | Human | 1 | alternate_id |
| 38597888 | CV964324 | single nucleotide variant | NM_001130969.3(NSMF):c.1435A>G (p.Arg479Gly) | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV001253245] | uncertain significance | 9 | 137449659 | 137449659 | Human | 1 | alternate_id |
| 126730318 | CV985997 | single nucleotide variant | NM_001130969.3(NSMF):c.298C>T (p.Arg100Ter) | Hypogonadotropic hypogonadism 9 with or without anosmia [RCV001294123] | pathogenic | 9 | 137457737 | 137457737 | Human | | alternate_id |
| 15099020 | CV720913 | single nucleotide variant | NM_005663.5(NELFA):c.528G>A (p.Ala176=) | NELFA-related disorder [RCV003968134]|not provided [RCV000891864] | likely benign | 4 | 1989724 | 1989724 | Human | | name , trait , alternate_id |
| 15182954 | CV734597 | single nucleotide variant | NM_005663.5(NELFA):c.1012A>G (p.Ile338Val) | NELFA-related disorder [RCV003902829]|not provided [RCV000907948] | likely benign | 4 | 1984832 | 1984832 | Human | | name , trait , alternate_id |
| 15102116 | CV764433 | single nucleotide variant | NM_005663.5(NELFA):c.24C>T (p.Asp8=) | not provided [RCV000936929] | likely benign | 4 | 2008936 | 2008936 | Human | | name |
| 156293305 | CV2233532 | single nucleotide variant | NM_005663.4(NELFA):c.7G>C (p.Gly3Arg) | not specified [RCV004100011] | uncertain significance | 4 | 2008986 | 2008986 | Human | | name |
| 401739954 | CV2709748 | single nucleotide variant | NM_005663.5(NELFA):c.1A>G (p.Met1Val) | not specified [RCV004320737] | uncertain significance | 4 | 2008959 | 2008959 | Human | | name |
| 15111540 | CV748893 | single nucleotide variant | NM_005663.5(NELFA):c.75G>A (p.Ala25=) | not provided [RCV000916748] | likely benign | 4 | 2008885 | 2008885 | Human | | name |
| 597639011 | CV3565524 | single nucleotide variant | NM_002904.6(NELFE):c.17C>T (p.Pro6Leu) | not specified [RCV004831867] | uncertain significance | 6 | 31958430 | 31958430 | Human | | name |
| 598254462 | CV3990749 | single nucleotide variant | NM_198976.4(NELFCD):c.6C>G (p.Asp2Glu) | not specified [RCV005385505] | uncertain significance | 20 | 58981315 | 58981315 | Human | | name |
| 15114640 | CV748892 | single nucleotide variant | NM_005663.5(NELFA):c.279C>T (p.Val93=) | not provided [RCV000917314] | likely benign | 4 | 1991647 | 1991647 | Human | | name |
| 15182277 | CV764432 | single nucleotide variant | NM_005663.5(NELFA):c.282C>T (p.Ala94=) | not provided [RCV000930324] | benign | 4 | 1991644 | 1991644 | Human | | name |
| 15138641 | CV781931 | single nucleotide variant | NM_005663.5(NELFA):c.150G>C (p.Ser50=) | not provided [RCV000982505] | likely benign | 4 | 2008810 | 2008810 | Human | | name |
| 155906427 | CV2303312 | single nucleotide variant | NM_198976.4(NELFCD):c.10G>A (p.Asp4Asn) | not specified [RCV004159059] | uncertain significance | 20 | 58981319 | 58981319 | Human | | name |
| 401927850 | CV2822351 | single nucleotide variant | NM_005663.5(NELFA):c.576C>T (p.Ser192=) | not provided [RCV003439213] | likely benign | 4 | 1987976 | 1987976 | Human | | name |
| 15100033 | CV720911 | single nucleotide variant | NM_005663.5(NELFA):c.645A>G (p.Lys215=) | not provided [RCV000892039] | benign | 4 | 1986392 | 1986392 | Human | | name |
| 15108203 | CV720912 | single nucleotide variant | NM_005663.5(NELFA):c.588C>A (p.Pro196=) | not provided [RCV000893623] | likely benign | 4 | 1987964 | 1987964 | Human | | name |
| 15196562 | CV720914 | single nucleotide variant | NM_005663.5(NELFA):c.441C>T (p.Asn147=) | not provided [RCV000889808] | likely benign | 4 | 1989811 | 1989811 | Human | | name |
| 15100822 | CV720915 | single nucleotide variant | NM_005663.5(NELFA):c.309A>C (p.Thr103=) | not provided [RCV000892172] | likely benign | 4 | 1991617 | 1991617 | Human | | name |
| 15195701 | CV721960 | single nucleotide variant | NM_002904.6(NELFE):c.660G>A (p.Arg220=) | not provided [RCV000889577] | likely benign | 6 | 31954637 | 31954637 | Human | | name |
| 15159732 | CV734598 | single nucleotide variant | NM_005663.5(NELFA):c.966G>A (p.Thr322=) | not provided [RCV000902999] | likely benign | 4 | 1984878 | 1984878 | Human | | name |
| 15190718 | CV734599 | single nucleotide variant | NM_005663.5(NELFA):c.798C>T (p.Gly266=) | not provided [RCV000910033] | likely benign | 4 | 1986151 | 1986151 | Human | | name |
| 15161067 | CV734600 | single nucleotide variant | NM_005663.5(NELFA):c.399G>A (p.Ala133=) | not provided [RCV000903273] | benign | 4 | 1989853 | 1989853 | Human | | name |
| 15118970 | CV734601 | single nucleotide variant | NM_005663.5(NELFA):c.315G>A (p.Ser105=) | not provided [RCV000895640] | likely benign | 4 | 1991611 | 1991611 | Human | | name |
| 15120592 | CV748888 | single nucleotide variant | NM_005663.5(NELFA):c.891C>T (p.Thr297=) | not provided [RCV000918348] | likely benign | 4 | 1985809 | 1985809 | Human | | name |
| 15136583 | CV748889 | single nucleotide variant | NM_005663.5(NELFA):c.672A>G (p.Arg224=) | not provided [RCV000921034] | likely benign | 4 | 1986365 | 1986365 | Human | | name |
| 15141438 | CV748890 | single nucleotide variant | NM_005663.5(NELFA):c.648C>T (p.Gly216=) | not provided [RCV000921841] | likely benign | 4 | 1986389 | 1986389 | Human | | name |
| 15167128 | CV748891 | single nucleotide variant | NM_005663.5(NELFA):c.477G>A (p.Pro159=) | not provided [RCV000927023] | likely benign | 4 | 1989775 | 1989775 | Human | | name |
| 15194786 | CV764430 | single nucleotide variant | NM_005663.5(NELFA):c.906C>T (p.Ala302=) | not provided [RCV000933743] | likely benign | 4 | 1985794 | 1985794 | Human | | name |
| 15120903 | CV764431 | single nucleotide variant | NM_005663.5(NELFA):c.681G>A (p.Thr227=) | not provided [RCV000940425] | likely benign | 4 | 1986356 | 1986356 | Human | | name |
| 8632002 | CV87208 | single nucleotide variant | NM_002904.5(NELFE):c.756C>T (p.Phe252=) | Malignant melanoma [RCV000067299] | not provided | 6 | 31954429 | 31954429 | Human | | name |
| 8632003 | CV87209 | single nucleotide variant | NM_002904.5(NELFE):c.624G>A (p.Arg208=) | Malignant melanoma [RCV000067300] | not provided | 6 | 31954673 | 31954673 | Human | | name |
| 156050382 | CV2271875 | single nucleotide variant | NM_198976.4(NELFCD):c.99G>T (p.Glu33Asp) | not specified [RCV004130691] | uncertain significance | 20 | 58986131 | 58986131 | Human | | name |
| 156068446 | CV2280667 | single nucleotide variant | NM_002904.6(NELFE):c.143G>A (p.Arg48His) | not specified [RCV004143131] | uncertain significance | 6 | 31956943 | 31956943 | Human | | name |
| 155996942 | CV2393254 | single nucleotide variant | NM_005663.5(NELFA):c.107C>T (p.Ala36Val) | not specified [RCV004228770] | uncertain significance | 4 | 2008853 | 2008853 | Human | | name |
| 329382863 | CV2465445 | single nucleotide variant | NM_198976.4(NELFCD):c.50A>G (p.Asp17Gly) | not specified [RCV004281215] | uncertain significance | 20 | 58981359 | 58981359 | Human | | name |
| 401923192 | CV2822350 | single nucleotide variant | NM_005663.5(NELFA):c.1356G>A (p.Thr452=) | not provided [RCV003434942] | likely benign | 4 | 1983642 | 1983642 | Human | | name |
| 405812976 | CV3349761 | single nucleotide variant | NM_015456.5(NELFB):c.257G>C (p.Gly86Ala) | not specified [RCV004483614] | uncertain significance | 9 | 137255917 | 137255917 | Human | | name |
| 405813132 | CV3349847 | single nucleotide variant | NM_015456.5(NELFB):c.181G>A (p.Gly61Ser) | not specified [RCV004483700] | uncertain significance | 9 | 137255546 | 137255546 | Human | | name |
| 407489609 | CV3454895 | single nucleotide variant | NM_015456.5(NELFB):c.1653C>T (p.His551=) | not specified [RCV004641499] | likely benign | 9 | 137272528 | 137272528 | Human | | name |
| 597639617 | CV3555999 | single nucleotide variant | NM_015456.5(NELFB):c.271T>G (p.Ser91Ala) | not specified [RCV004831850] | uncertain significance | 9 | 137255931 | 137255931 | Human | | name |
| 15174663 | CV698471 | single nucleotide variant | NM_005663.5(NELFA):c.1209C>T (p.Val403=) | not provided [RCV000950395] | benign | 4 | 1983941 | 1983941 | Human | | name |
| 15166834 | CV709300 | single nucleotide variant | NM_005663.5(NELFA):c.1290C>T (p.Asn430=) | not provided [RCV000971270] | benign | 4 | 1983860 | 1983860 | Human | | name |
| 15157695 | CV709301 | single nucleotide variant | NM_005663.5(NELFA):c.1023C>T (p.Ser341=) | not provided [RCV000969356] | likely benign | 4 | 1984821 | 1984821 | Human | | name |
| 15162984 | CV720907 | single nucleotide variant | NM_005663.5(NELFA):c.1335C>T (p.Phe445=) | not provided [RCV000881870] | benign|likely benign | 4 | 1983663 | 1983663 | Human | | name |
| 15107329 | CV720908 | single nucleotide variant | NM_005663.5(NELFA):c.1251G>A (p.Pro417=) | not provided [RCV000893454] | likely benign | 4 | 1983899 | 1983899 | Human | | name |
| 15190715 | CV734594 | single nucleotide variant | NM_005663.5(NELFA):c.1170G>A (p.Ala390=) | not provided [RCV000910032] | likely benign | 4 | 1983980 | 1983980 | Human | | name |
| 15121616 | CV734596 | single nucleotide variant | NM_005663.5(NELFA):c.1104G>A (p.Ala368=) | not provided [RCV000896096] | likely benign | 4 | 1984046 | 1984046 | Human | | name |
| 15168613 | CV748887 | single nucleotide variant | NM_005663.5(NELFA):c.1080C>T (p.Ser360=) | not provided [RCV000927328] | likely benign | 4 | 1984070 | 1984070 | Human | | name |
| 15106159 | CV781930 | single nucleotide variant | NM_005663.5(NELFA):c.1362C>T (p.Pro454=) | not provided [RCV000976579] | likely benign | 4 | 1983636 | 1983636 | Human | | name |
| 8625760 | CV80884 | single nucleotide variant | NM_005663.4(NELFA):c.168C>A (p.Phe56Leu) | Malignant melanoma [RCV000060961] | not provided | 4 | 2008825 | 2008825 | Human | | name |
| 8632001 | CV87207 | single nucleotide variant | NM_002904.5(NELFE):c.1002C>G (p.Pro334=) | Malignant melanoma [RCV000067298] | not provided | 6 | 31953772 | 31953772 | Human | | name |
| 156136497 | CV2196178 | single nucleotide variant | NM_005663.5(NELFA):c.302C>T (p.Pro101Leu) | not specified [RCV004073535] | uncertain significance | 4 | 1991624 | 1991624 | Human | | name |
| 156330999 | CV2210743 | single nucleotide variant | NM_002904.6(NELFE):c.667G>A (p.Asp223Asn) | not specified [RCV004085841] | uncertain significance | 6 | 31954630 | 31954630 | Human | | name |
| 156387305 | CV2221471 | single nucleotide variant | NM_002904.6(NELFE):c.893C>T (p.Ala298Val) | not specified [RCV004096752] | uncertain significance | 6 | 31954129 | 31954129 | Human | | name |
| 156281156 | CV2224345 | single nucleotide variant | NM_015456.5(NELFB):c.602A>C (p.Asn201Thr) | not specified [RCV004097691] | uncertain significance | 9 | 137256915 | 137256915 | Human | | name |
| 156068724 | CV2237070 | single nucleotide variant | NM_002904.6(NELFE):c.646C>T (p.Arg216Trp) | not specified [RCV004114831] | uncertain significance | 6 | 31954651 | 31954651 | Human | | name |
| 155987387 | CV2248082 | single nucleotide variant | NM_015456.5(NELFB):c.506C>T (p.Pro169Leu) | not specified [RCV004115356] | uncertain significance | 9 | 137256424 | 137256424 | Human | | name |
| 156148438 | CV2265276 | single nucleotide variant | NM_005663.5(NELFA):c.518C>T (p.Thr173Met) | not specified [RCV004126379] | uncertain significance | 4 | 1989734 | 1989734 | Human | | name |
| 156043877 | CV2268482 | single nucleotide variant | NM_002904.6(NELFE):c.740G>A (p.Arg247His) | not specified [RCV004130175] | uncertain significance | 6 | 31954557 | 31954557 | Human | | name |
| 156139409 | CV2280746 | single nucleotide variant | NM_005663.5(NELFA):c.653C>T (p.Pro218Leu) | not specified [RCV004143196] | uncertain significance | 4 | 1986384 | 1986384 | Human | | name |
| 156262545 | CV2282491 | single nucleotide variant | NM_015456.5(NELFB):c.956G>C (p.Arg319Pro) | not specified [RCV004133284] | uncertain significance | 9 | 137264273 | 137264273 | Human | | name |
| 156053741 | CV2308599 | single nucleotide variant | NM_005663.5(NELFA):c.985C>T (p.Pro329Ser) | not specified [RCV004167158] | uncertain significance | 4 | 1984859 | 1984859 | Human | | name |
| 156060285 | CV2323082 | single nucleotide variant | NM_002904.6(NELFE):c.377G>T (p.Arg126Leu) | not specified [RCV004187500] | uncertain significance | 6 | 31955086 | 31955086 | Human | | name |
| 156335277 | CV2333506 | single nucleotide variant | NM_015456.5(NELFB):c.425A>C (p.Glu142Ala) | not specified [RCV004190199] | uncertain significance | 9 | 137256343 | 137256343 | Human | | name |
| 155921798 | CV2340513 | single nucleotide variant | NM_005663.5(NELFA):c.827A>G (p.Lys276Arg) | not specified [RCV004197232] | uncertain significance | 4 | 1986122 | 1986122 | Human | | name |
| 155902627 | CV2356496 | single nucleotide variant | NM_002904.6(NELFE):c.791T>C (p.Leu264Pro) | not specified [RCV004199413] | uncertain significance | 6 | 31954394 | 31954394 | Human | | name |
| 156387558 | CV2372783 | single nucleotide variant | NM_002904.6(NELFE):c.517C>T (p.Arg173Cys) | not specified [RCV004221969] | uncertain significance | 6 | 31954780 | 31954780 | Human | | name |
| 156087597 | CV2388187 | single nucleotide variant | NM_002904.6(NELFE):c.629G>A (p.Arg210Gln) | not specified [RCV004234649] | uncertain significance | 6 | 31954668 | 31954668 | Human | | name |
| 156227500 | CV2392733 | single nucleotide variant | NM_002904.6(NELFE):c.739C>T (p.Arg247Cys) | not specified [RCV004247106] | uncertain significance | 6 | 31954558 | 31954558 | Human | | name |
| 156248443 | CV2393950 | single nucleotide variant | NM_002904.6(NELFE):c.524G>A (p.Gly175Asp) | not specified [RCV004236180] | uncertain significance | 6 | 31954773 | 31954773 | Human | | name |
| 156224662 | CV2399466 | single nucleotide variant | NM_002904.6(NELFE):c.563G>A (p.Arg188Gln) | not specified [RCV004242733] | uncertain significance | 6 | 31954734 | 31954734 | Human | | name |
| 329400027 | CV2440408 | single nucleotide variant | NM_005663.5(NELFA):c.991G>C (p.Val331Leu) | not specified [RCV004256345] | uncertain significance | 4 | 1984853 | 1984853 | Human | | name |
| 329389859 | CV2441376 | single nucleotide variant | NM_015456.5(NELFB):c.851C>T (p.Thr284Met) | not specified [RCV004257181] | uncertain significance | 9 | 137263146 | 137263146 | Human | | name |
| 329397020 | CV2468418 | single nucleotide variant | NM_015456.5(NELFB):c.298G>A (p.Asp100Asn) | not specified [RCV004277728] | uncertain significance | 9 | 137255958 | 137255958 | Human | | name |
| 401767172 | CV2681501 | single nucleotide variant | NM_015456.5(NELFB):c.833G>A (p.Arg278Gln) | not specified [RCV004292035] | uncertain significance | 9 | 137263128 | 137263128 | Human | | name |
| 401772858 | CV2698008 | single nucleotide variant | NM_015456.5(NELFB):c.917C>A (p.Pro306Gln) | not specified [RCV004302815] | uncertain significance | 9 | 137263212 | 137263212 | Human | | name |
| 401719101 | CV2704954 | single nucleotide variant | NM_002904.6(NELFE):c.806A>G (p.Glu269Gly) | not specified [RCV004307521] | uncertain significance | 6 | 31954379 | 31954379 | Human | | name |
| 401734267 | CV2709428 | single nucleotide variant | NM_015456.5(NELFB):c.746T>C (p.Val249Ala) | not specified [RCV004318682] | uncertain significance | 9 | 137263041 | 137263041 | Human | | name |
| 401762451 | CV2714144 | single nucleotide variant | NM_002904.6(NELFE):c.495C>A (p.Ser165Arg) | not specified [RCV004317395] | uncertain significance | 6 | 31954802 | 31954802 | Human | | name |
| 401861800 | CV2756705 | single nucleotide variant | NM_002904.6(NELFE):c.701G>A (p.Arg234Gln) | not specified [RCV004345212] | uncertain significance | 6 | 31954596 | 31954596 | Human | | name |
| 401883555 | CV2757984 | single nucleotide variant | NM_005663.5(NELFA):c.349G>A (p.Val117Ile) | not specified [RCV004339158] | uncertain significance | 4 | 1991577 | 1991577 | Human | | name |
| 401889768 | CV2758456 | single nucleotide variant | NM_002904.6(NELFE):c.568C>T (p.Arg190Cys) | not specified [RCV004335107] | uncertain significance | 6 | 31954729 | 31954729 | Human | | name |
| 401863347 | CV2776763 | single nucleotide variant | NM_002904.6(NELFE):c.664C>G (p.Arg222Gly) | not specified [RCV004357913] | uncertain significance | 6 | 31954633 | 31954633 | Human | | name |
| 401866769 | CV2782936 | single nucleotide variant | NM_015456.5(NELFB):c.631C>A (p.Pro211Thr) | not specified [RCV004361732] | uncertain significance | 9 | 137256944 | 137256944 | Human | | name |
| 401895332 | CV2786373 | single nucleotide variant | NM_002904.6(NELFE):c.805G>A (p.Glu269Lys) | not specified [RCV004361968] | uncertain significance | 6 | 31954380 | 31954380 | Human | | name |
| 405812944 | CV3349743 | single nucleotide variant | NM_005663.5(NELFA):c.611T>C (p.Leu204Pro) | not specified [RCV004483596] | uncertain significance | 4 | 1987941 | 1987941 | Human | | name |
| 405812955 | CV3349749 | single nucleotide variant | NM_005663.5(NELFA):c.847G>A (p.Val283Met) | not specified [RCV004483602] | uncertain significance | 4 | 1985853 | 1985853 | Human | | name |
| 405812960 | CV3349752 | single nucleotide variant | NM_005663.5(NELFA):c.965C>T (p.Thr322Met) | not specified [RCV004483605] | uncertain significance | 4 | 1984879 | 1984879 | Human | | name |
| 405813121 | CV3349841 | single nucleotide variant | NM_015456.5(NELFB):c.521A>G (p.Lys174Arg) | not specified [RCV004483694] | uncertain significance | 9 | 137256834 | 137256834 | Human | | name |
| 405813326 | CV3349950 | single nucleotide variant | NM_002904.6(NELFE):c.335G>T (p.Arg112Met) | not specified [RCV004483803] | uncertain significance | 6 | 31955250 | 31955250 | Human | | name |
| 405813330 | CV3349952 | single nucleotide variant | NM_002904.6(NELFE):c.376C>T (p.Arg126Cys) | not specified [RCV004483805] | uncertain significance | 6 | 31955087 | 31955087 | Human | | name |
| 405813340 | CV3349957 | single nucleotide variant | NM_002904.6(NELFE):c.425G>A (p.Arg142Gln) | not specified [RCV004483810] | uncertain significance | 6 | 31954872 | 31954872 | Human | | name |
| 405813343 | CV3349959 | single nucleotide variant | NM_002904.6(NELFE):c.491G>A (p.Arg164Gln) | not specified [RCV004483812] | uncertain significance | 6 | 31954806 | 31954806 | Human | | name |
| 405813362 | CV3349969 | single nucleotide variant | NM_002904.6(NELFE):c.518G>A (p.Arg173His) | not specified [RCV004483822] | likely benign | 6 | 31954779 | 31954779 | Human | | name |
| 405813372 | CV3349975 | single nucleotide variant | NM_002904.6(NELFE):c.547C>G (p.Pro183Ala) | not specified [RCV004483828] | uncertain significance | 6 | 31954750 | 31954750 | Human | | name |
| 405813492 | CV3349983 | single nucleotide variant | NM_002904.6(NELFE):c.605G>A (p.Arg202Gln) | not specified [RCV004483836] | uncertain significance | 6 | 31954692 | 31954692 | Human | | name |
| 405813496 | CV3350017 | single nucleotide variant | NM_002904.6(NELFE):c.985A>G (p.Ile329Val) | not specified [RCV004483870] | uncertain significance | 6 | 31953789 | 31953789 | Human | | name |
| 407456453 | CV3415894 | single nucleotide variant | NM_005663.5(NELFA):c.691G>A (p.Val231Ile) | not provided [RCV004598771] | uncertain significance | 4 | 1986346 | 1986346 | Human | | name |
| 407526289 | CV3454893 | single nucleotide variant | NM_005663.5(NELFA):c.746G>A (p.Arg249Gln) | not specified [RCV004654759] | uncertain significance | 4 | 1986291 | 1986291 | Human | | name |
| 597638961 | CV3555983 | single nucleotide variant | NM_005663.5(NELFA):c.425A>G (p.Gln142Arg) | not specified [RCV004831834] | uncertain significance | 4 | 1989827 | 1989827 | Human | | name |
| 597638967 | CV3555984 | single nucleotide variant | NM_005663.5(NELFA):c.343C>T (p.Pro115Ser) | not specified [RCV004831835] | uncertain significance | 4 | 1991583 | 1991583 | Human | | name |
| 597638983 | CV3555987 | single nucleotide variant | NM_005663.5(NELFA):c.953C>T (p.Ala318Val) | not specified [RCV004831838] | uncertain significance | 4 | 1984891 | 1984891 | Human | | name |
| 597638989 | CV3555988 | single nucleotide variant | NM_005663.5(NELFA):c.872C>T (p.Thr291Met) | not specified [RCV004831839] | uncertain significance | 4 | 1985828 | 1985828 | Human | | name |
| 597638994 | CV3555989 | single nucleotide variant | NM_005663.5(NELFA):c.799G>A (p.Ala267Thr) | not specified [RCV004831840] | uncertain significance | 4 | 1986150 | 1986150 | Human | | name |
| 597639000 | CV3555990 | single nucleotide variant | NM_005663.5(NELFA):c.856C>T (p.Pro286Ser) | not specified [RCV004831841] | uncertain significance | 4 | 1985844 | 1985844 | Human | | name |
| 597639641 | CV3555994 | single nucleotide variant | NM_005663.5(NELFA):c.895G>T (p.Asp299Tyr) | not specified [RCV004831845] | uncertain significance | 4 | 1985805 | 1985805 | Human | | name |
| 597639610 | CV3556000 | single nucleotide variant | NM_015456.5(NELFB):c.533T>A (p.Leu178Gln) | not specified [RCV004831851] | uncertain significance | 9 | 137256846 | 137256846 | Human | | name |
| 597639591 | CV3556004 | single nucleotide variant | NM_015456.5(NELFB):c.943G>A (p.Asp315Asn) | not specified [RCV004831855] | uncertain significance | 9 | 137264260 | 137264260 | Human | | name |
| 597639585 | CV3556005 | single nucleotide variant | NM_015456.5(NELFB):c.944A>T (p.Asp315Val) | not specified [RCV004831856] | uncertain significance | 9 | 137264261 | 137264261 | Human | | name |
| 597639559 | CV3565518 | single nucleotide variant | NM_198976.4(NELFCD):c.122A>G (p.Lys41Arg) | not specified [RCV004831861] | uncertain significance | 20 | 58986154 | 58986154 | Human | | name |
| 597639238 | CV3565521 | single nucleotide variant | NM_002904.6(NELFE):c.689G>A (p.Arg230Gln) | not specified [RCV004831864] | uncertain significance | 6 | 31954608 | 31954608 | Human | | name |
| 597639118 | CV3565522 | single nucleotide variant | NM_002904.6(NELFE):c.725G>A (p.Arg242Gln) | not specified [RCV004831865] | uncertain significance | 6 | 31954572 | 31954572 | Human | | name |
| 597639110 | CV3565523 | single nucleotide variant | NM_002904.6(NELFE):c.610C>T (p.Arg204Trp) | not specified [RCV004831866] | uncertain significance | 6 | 31954687 | 31954687 | Human | | name |
| 598254429 | CV3990739 | single nucleotide variant | NM_005663.5(NELFA):c.406A>G (p.Met136Val) | not specified [RCV005385501] | uncertain significance | 4 | 1989846 | 1989846 | Human | | name |
| 598231903 | CV3990740 | single nucleotide variant | NM_005663.5(NELFA):c.949C>T (p.Pro317Ser) | not specified [RCV005381444] | uncertain significance | 4 | 1984895 | 1984895 | Human | | name |
| 598254444 | CV3990745 | single nucleotide variant | NM_015456.5(NELFB):c.914A>T (p.Asp305Val) | not specified [RCV005385503] | uncertain significance | 9 | 137263209 | 137263209 | Human | | name |
| 598231925 | CV3990746 | single nucleotide variant | NM_015456.5(NELFB):c.478G>C (p.Val160Leu) | not specified [RCV005381448] | uncertain significance | 9 | 137256396 | 137256396 | Human | | name |
| 598254471 | CV3990752 | single nucleotide variant | NM_002904.6(NELFE):c.392C>A (p.Ser131Tyr) | not specified [RCV005385506] | uncertain significance | 6 | 31955071 | 31955071 | Human | | name |
| 598231947 | CV3990753 | single nucleotide variant | NM_002904.6(NELFE):c.658C>T (p.Arg220Trp) | not specified [RCV005381452] | uncertain significance | 6 | 31954639 | 31954639 | Human | | name |
| 15202106 | CV720910 | single nucleotide variant | NM_005663.5(NELFA):c.661G>C (p.Ala221Pro) | not provided [RCV000891382] | benign | 4 | 1986376 | 1986376 | Human | | name |
| 8632004 | CV87210 | single nucleotide variant | NM_002904.5(NELFE):c.331C>T (p.Gln111Ter) | Malignant melanoma [RCV000067301] | not provided | 6 | 31955254 | 31955254 | Human | | name |
| 156238380 | CV2193634 | single nucleotide variant | NM_015456.5(NELFB):c.1537C>T (p.Leu513Phe) | not specified [RCV004074238] | uncertain significance | 9 | 137272128 | 137272128 | Human | | name |
| 156170229 | CV2197880 | single nucleotide variant | NM_198976.4(NELFCD):c.383C>G (p.Thr128Ser) | not specified [RCV004077110] | uncertain significance | 20 | 58987804 | 58987804 | Human | | name |
| 156096094 | CV2210372 | single nucleotide variant | NM_015456.5(NELFB):c.1733C>T (p.Thr578Ile) | not specified [RCV004089522] | uncertain significance | 9 | 137272608 | 137272608 | Human | | name |
| 155923050 | CV2217540 | single nucleotide variant | NM_002904.6(NELFE):c.1075C>T (p.Arg359Trp) | not specified [RCV004090077] | uncertain significance | 6 | 31952369 | 31952369 | Human | | name |
| 155975174 | CV2221337 | single nucleotide variant | NM_005663.5(NELFA):c.1156C>G (p.Pro386Ala) | not specified [RCV004094758] | uncertain significance | 4 | 1983994 | 1983994 | Human | | name |
| 156066240 | CV2236900 | single nucleotide variant | NM_005663.5(NELFA):c.1012A>C (p.Ile338Leu) | not specified [RCV004112906] | uncertain significance | 4 | 1984832 | 1984832 | Human | | name |
| 156280210 | CV2252217 | single nucleotide variant | NM_015456.5(NELFB):c.1376T>G (p.Phe459Cys) | not specified [RCV004122223] | uncertain significance | 9 | 137267080 | 137267080 | Human | | name |
| 155919884 | CV2254951 | single nucleotide variant | NM_005663.5(NELFA):c.1121C>T (p.Ala374Val) | not specified [RCV004117185] | uncertain significance | 4 | 1984029 | 1984029 | Human | | name |
| 156197271 | CV2259248 | single nucleotide variant | NM_015456.5(NELFB):c.1809G>T (p.Lys603Asn) | not specified [RCV004122270] | uncertain significance | 9 | 137272850 | 137272850 | Human | | name |
| 156358586 | CV2260688 | single nucleotide variant | NM_015456.5(NELFB):c.1777G>A (p.Gly593Ser) | not specified [RCV004125622] | uncertain significance | 9 | 137272818 | 137272818 | Human | | name |
| 156149003 | CV2265318 | single nucleotide variant | NM_198976.4(NELFCD):c.712G>A (p.Val238Met) | not specified [RCV004128209] | uncertain significance | 20 | 58989912 | 58989912 | Human | | name |
| 156045357 | CV2268595 | single nucleotide variant | NM_005663.5(NELFA):c.1028C>T (p.Thr343Met) | not specified [RCV004124010] | uncertain significance | 4 | 1984816 | 1984816 | Human | | name |
| 155945026 | CV2269462 | single nucleotide variant | NM_015456.5(NELFB):c.1471C>T (p.Arg491Cys) | not specified [RCV004124577] | uncertain significance | 9 | 137267328 | 137267328 | Human | | name |
| 155973773 | CV2269876 | single nucleotide variant | NM_198976.4(NELFCD):c.932T>C (p.Met311Thr) | not specified [RCV004127101] | uncertain significance | 20 | 58991053 | 58991053 | Human | | name |
| 156066323 | CV2270769 | single nucleotide variant | NM_015456.5(NELFB):c.1669A>G (p.Ile557Val) | not specified [RCV004131827] | uncertain significance | 9 | 137272544 | 137272544 | Human | | name |
| 155903206 | CV2274838 | single nucleotide variant | NM_015456.5(NELFB):c.1646A>C (p.His549Pro) | not specified [RCV004133039] | uncertain significance | 9 | 137272521 | 137272521 | Human | | name |
| 156251542 | CV2286860 | single nucleotide variant | NM_198976.4(NELFCD):c.915C>G (p.Phe305Leu) | not specified [RCV004142659] | uncertain significance | 20 | 58991036 | 58991036 | Human | | name |
| 156182919 | CV2294768 | single nucleotide variant | NM_005663.5(NELFA):c.1429G>A (p.Val477Met) | not specified [RCV004162290] | uncertain significance | 4 | 1983477 | 1983477 | Human | | name |
| 155978771 | CV2318161 | single nucleotide variant | NM_005663.5(NELFA):c.1081G>A (p.Ala361Thr) | not specified [RCV004179352] | likely benign | 4 | 1984069 | 1984069 | Human | | name |
| 156215384 | CV2347855 | single nucleotide variant | NM_015456.5(NELFB):c.1153G>A (p.Asp385Asn) | not specified [RCV004195506] | uncertain significance | 9 | 137266340 | 137266340 | Human | | name |
| 156156309 | CV2367994 | single nucleotide variant | NM_005663.5(NELFA):c.1103C>T (p.Ala368Val) | not specified [RCV004223083] | uncertain significance | 4 | 1984047 | 1984047 | Human | | name |
| 156384481 | CV2371454 | single nucleotide variant | NM_015456.5(NELFB):c.1123G>A (p.Gly375Ser) | not specified [RCV004216713] | uncertain significance | 9 | 137265959 | 137265959 | Human | | name |
| 156165154 | CV2376326 | single nucleotide variant | NM_005663.5(NELFA):c.1202C>T (p.Pro401Leu) | not specified [RCV004222586] | uncertain significance | 4 | 1983948 | 1983948 | Human | | name |
| 156051599 | CV2391254 | single nucleotide variant | NM_015456.5(NELFB):c.1462G>A (p.Ala488Thr) | not specified [RCV004237264] | uncertain significance | 9 | 137267319 | 137267319 | Human | | name |
| 329391687 | CV2448882 | single nucleotide variant | NM_015456.5(NELFB):c.1268C>T (p.Pro423Leu) | not specified [RCV004261559] | uncertain significance | 9 | 137266972 | 137266972 | Human | | name |
| 401751254 | CV2696277 | single nucleotide variant | NM_005663.5(NELFA):c.1474G>T (p.Ala492Ser) | not specified [RCV004310614] | likely benign | 4 | 1983432 | 1983432 | Human | | name |
| 401739505 | CV2722148 | single nucleotide variant | NM_198976.4(NELFCD):c.925A>G (p.Thr309Ala) | not specified [RCV004328403] | uncertain significance | 20 | 58991046 | 58991046 | Human | | name |
| 401870642 | CV2755984 | single nucleotide variant | NM_015456.5(NELFB):c.1805G>A (p.Arg602Gln) | not specified [RCV004336067] | uncertain significance | 9 | 137272846 | 137272846 | Human | | name |
| 401874568 | CV2759270 | single nucleotide variant | NM_005663.5(NELFA):c.1151C>T (p.Ala384Val) | not specified [RCV004335865] | uncertain significance | 4 | 1983999 | 1983999 | Human | | name |
| 401890968 | CV2768868 | single nucleotide variant | NM_005663.5(NELFA):c.1547C>T (p.Thr516Met) | not specified [RCV004346979] | uncertain significance | 4 | 1983359 | 1983359 | Human | | name |
| 401877068 | CV2793336 | single nucleotide variant | NM_002904.6(NELFE):c.1123A>G (p.Asn375Asp) | not specified [RCV004362149] | uncertain significance | 6 | 31952321 | 31952321 | Human | | name |
| 405812882 | CV3349707 | single nucleotide variant | NM_005663.5(NELFA):c.1159A>C (p.Thr387Pro) | not specified [RCV004483560] | uncertain significance | 4 | 1983991 | 1983991 | Human | | name |
| 405812892 | CV3349713 | single nucleotide variant | NM_005663.5(NELFA):c.1166C>T (p.Ala389Val) | not specified [RCV004483566] | uncertain significance | 4 | 1983984 | 1983984 | Human | | name |
| 405812895 | CV3349715 | single nucleotide variant | NM_005663.5(NELFA):c.1210G>A (p.Ala404Thr) | not specified [RCV004483568] | likely benign | 4 | 1983940 | 1983940 | Human | | name |
| 405812904 | CV3349720 | single nucleotide variant | NM_005663.5(NELFA):c.1259A>G (p.Gln420Arg) | not specified [RCV004483573] | uncertain significance | 4 | 1983891 | 1983891 | Human | | name |
| 405812979 | CV3349763 | single nucleotide variant | NM_015456.5(NELFB):c.1307A>G (p.Asn436Ser) | not specified [RCV004483616] | uncertain significance | 9 | 137267011 | 137267011 | Human | | name |
| 405812984 | CV3349766 | single nucleotide variant | NM_015456.5(NELFB):c.1411G>A (p.Glu471Lys) | not specified [RCV004483619] | uncertain significance | 9 | 137267268 | 137267268 | Human | | name |
| 405813029 | CV3349790 | single nucleotide variant | NM_015456.5(NELFB):c.1690G>C (p.Ala564Pro) | not specified [RCV004483643] | uncertain significance | 9 | 137272565 | 137272565 | Human | | name |
| 405813047 | CV3349800 | single nucleotide variant | NM_015456.5(NELFB):c.1709C>T (p.Ala570Val) | not specified [RCV004483653] | uncertain significance | 9 | 137272584 | 137272584 | Human | | name |
| 405813069 | CV3349812 | single nucleotide variant | NM_015456.5(NELFB):c.1796T>C (p.Leu599Pro) | not specified [RCV004483665] | uncertain significance | 9 | 137272837 | 137272837 | Human | | name |
| 405813096 | CV3349827 | single nucleotide variant | NM_015456.5(NELFB):c.1817C>T (p.Pro606Leu) | not specified [RCV004483680] | uncertain significance | 9 | 137272858 | 137272858 | Human | | name |
| 405813188 | CV3349877 | single nucleotide variant | NM_015456.5(NELFB):c.1016A>G (p.Lys339Arg) | not specified [RCV004483730] | uncertain significance | 9 | 137264333 | 137264333 | Human | | name |
| 405813265 | CV3349917 | single nucleotide variant | NM_198976.4(NELFCD):c.701C>T (p.Ala234Val) | not specified [RCV004483770] | uncertain significance | 20 | 58989901 | 58989901 | Human | | name |
| 405813280 | CV3349925 | single nucleotide variant | NM_198976.4(NELFCD):c.797A>G (p.Asp266Gly) | not specified [RCV004483778] | uncertain significance | 20 | 58990918 | 58990918 | Human | | name |
| 407526286 | CV3454892 | single nucleotide variant | NM_005663.5(NELFA):c.1428C>A (p.Asp476Glu) | not specified [RCV004654758] | uncertain significance | 4 | 1983478 | 1983478 | Human | | name |
| 407489606 | CV3454894 | single nucleotide variant | NM_015456.5(NELFB):c.1171C>T (p.Arg391Trp) | not specified [RCV004641498] | uncertain significance | 9 | 137266358 | 137266358 | Human | | name |
| 407489613 | CV3454896 | single nucleotide variant | NM_015456.5(NELFB):c.1745G>T (p.Gly582Val) | not specified [RCV004641500] | uncertain significance | 9 | 137272786 | 137272786 | Human | | name |
| 407526293 | CV3454897 | single nucleotide variant | NM_015456.5(NELFB):c.1876G>A (p.Ala626Thr) | not specified [RCV004654760] | uncertain significance | 9 | 137272917 | 137272917 | Human | | name |
| 407526297 | CV3454899 | single nucleotide variant | NM_198976.4(NELFCD):c.704T>C (p.Met235Thr) | not specified [RCV004654762] | uncertain significance | 20 | 58989904 | 58989904 | Human | | name |
| 407526300 | CV3454900 | single nucleotide variant | NM_198976.4(NELFCD):c.452A>G (p.Tyr151Cys) | not specified [RCV004654763] | uncertain significance | 20 | 58988969 | 58988969 | Human | | name |
| 407526303 | CV3454901 | single nucleotide variant | NM_002904.6(NELFE):c.1007T>A (p.Leu336Gln) | not specified [RCV004654764] | uncertain significance | 6 | 31953767 | 31953767 | Human | | name |
| 407526306 | CV3454902 | single nucleotide variant | NM_002904.6(NELFE):c.1102A>G (p.Ser368Gly) | not specified [RCV004654765] | uncertain significance | 6 | 31952342 | 31952342 | Human | | name |
| 597638972 | CV3555985 | single nucleotide variant | NM_005663.5(NELFA):c.1118G>A (p.Arg373Gln) | not specified [RCV004831836] | uncertain significance | 4 | 1984032 | 1984032 | Human | | name |
| 597638977 | CV3555986 | single nucleotide variant | NM_005663.5(NELFA):c.1495A>G (p.Thr499Ala) | not specified [RCV004831837] | uncertain significance | 4 | 1983411 | 1983411 | Human | | name |
| 597639651 | CV3555992 | single nucleotide variant | NM_005663.5(NELFA):c.1075C>A (p.Pro359Thr) | not specified [RCV004831843] | uncertain significance | 4 | 1984075 | 1984075 | Human | | name |
| 597639645 | CV3555993 | single nucleotide variant | NM_005663.5(NELFA):c.1232C>T (p.Pro411Leu) | not specified [RCV004831844] | uncertain significance | 4 | 1983918 | 1983918 | Human | | name |
| 597639638 | CV3555995 | single nucleotide variant | NM_015456.5(NELFB):c.1682C>T (p.Pro561Leu) | not specified [RCV004831846] | uncertain significance | 9 | 137272557 | 137272557 | Human | | name |
| 597639633 | CV3555996 | single nucleotide variant | NM_015456.5(NELFB):c.1564G>A (p.Asp522Asn) | not specified [RCV004831847] | uncertain significance | 9 | 137272155 | 137272155 | Human | | name |
| 597639627 | CV3555997 | single nucleotide variant | NM_015456.5(NELFB):c.1838C>G (p.Pro613Arg) | not specified [RCV004831848] | uncertain significance | 9 | 137272879 | 137272879 | Human | | name |
| 597639622 | CV3555998 | single nucleotide variant | NM_015456.5(NELFB):c.1621G>A (p.Ala541Thr) | not specified [RCV004831849] | uncertain significance | 9 | 137272212 | 137272212 | Human | | name |
| 597639600 | CV3556002 | single nucleotide variant | NM_015456.5(NELFB):c.1814G>A (p.Ser605Asn) | not specified [RCV004831853] | uncertain significance | 9 | 137272855 | 137272855 | Human | | name |
| 597639595 | CV3556003 | single nucleotide variant | NM_015456.5(NELFB):c.1400G>A (p.Arg467His) | not specified [RCV004831854] | uncertain significance | 9 | 137267257 | 137267257 | Human | | name |
| 597639580 | CV3556006 | single nucleotide variant | NM_198976.4(NELFCD):c.749G>A (p.Arg250His) | not specified [RCV004831857] | uncertain significance | 20 | 58989949 | 58989949 | Human | | name |
| 597639570 | CV3556008 | single nucleotide variant | NM_198976.4(NELFCD):c.950A>T (p.Glu317Val) | not specified [RCV004831859] | uncertain significance | 20 | 58991071 | 58991071 | Human | | name |
| 597639566 | CV3556009 | single nucleotide variant | NM_198976.4(NELFCD):c.772C>T (p.Arg258Cys) | not specified [RCV004831860] | uncertain significance | 20 | 58989972 | 58989972 | Human | | name |
| 598254437 | CV3990741 | single nucleotide variant | NM_005663.5(NELFA):c.1019G>C (p.Ser340Thr) | not specified [RCV005385502] | uncertain significance | 4 | 1984825 | 1984825 | Human | | name |
| 598231909 | CV3990742 | single nucleotide variant | NM_005663.5(NELFA):c.1193C>T (p.Thr398Ile) | not specified [RCV005381445] | uncertain significance | 4 | 1983957 | 1983957 | Human | | name |
| 598231913 | CV3990743 | single nucleotide variant | NM_015456.5(NELFB):c.1804C>T (p.Arg602Trp) | not specified [RCV005381446] | uncertain significance | 9 | 137272845 | 137272845 | Human | | name |
| 598231919 | CV3990744 | single nucleotide variant | NM_015456.5(NELFB):c.1421T>C (p.Leu474Pro) | not specified [RCV005381447] | uncertain significance | 9 | 137267278 | 137267278 | Human | | name |
| 598254454 | CV3990747 | single nucleotide variant | NM_198976.4(NELFCD):c.313A>G (p.Thr105Ala) | not specified [RCV005385504] | uncertain significance | 20 | 58987734 | 58987734 | Human | | name |
| 598231930 | CV3990748 | single nucleotide variant | NM_198976.4(NELFCD):c.921G>A (p.Met307Ile) | not specified [RCV005381449] | uncertain significance | 20 | 58991042 | 58991042 | Human | | name |
| 598231936 | CV3990750 | single nucleotide variant | NM_198976.4(NELFCD):c.958C>T (p.Arg320Cys) | not specified [RCV005381450] | uncertain significance | 20 | 58991315 | 58991315 | Human | | name |
| 15170943 | CV709302 | single nucleotide variant | NM_005663.5(NELFA):c.1000G>A (p.Ala334Thr) | not provided [RCV000972105] | benign | 4 | 1984844 | 1984844 | Human | | name |
| 15113785 | CV720909 | single nucleotide variant | NM_005663.5(NELFA):c.1003T>G (p.Ser335Ala) | not provided [RCV000894731] | benign | 4 | 1984841 | 1984841 | Human | | name |
| 15191477 | CV734595 | single nucleotide variant | NM_005663.5(NELFA):c.1160C>T (p.Thr387Met) | not provided [RCV000910259] | likely benign | 4 | 1983990 | 1983990 | Human | | name |
| 156342809 | CV2222485 | single nucleotide variant | NM_198976.4(NELFCD):c.1060G>T (p.Ala354Ser) | not specified [RCV004099332] | uncertain significance | 20 | 58991417 | 58991417 | Human | | name |
| 156061230 | CV2305471 | single nucleotide variant | NM_198976.4(NELFCD):c.1348A>G (p.Ser450Gly) | not specified [RCV004165188] | uncertain significance | 20 | 58993452 | 58993452 | Human | | name |
| 329378764 | CV2459930 | single nucleotide variant | NM_198976.4(NELFCD):c.1538A>G (p.Lys513Arg) | not specified [RCV004279418] | uncertain significance | 20 | 58993721 | 58993721 | Human | | name |
| 401780080 | CV2725861 | single nucleotide variant | NM_198976.4(NELFCD):c.1693C>T (p.Pro565Ser) | not specified [RCV004316321] | uncertain significance | 20 | 58994221 | 58994221 | Human | | name |
| 401869194 | CV2766937 | single nucleotide variant | NM_198976.4(NELFCD):c.1021C>A (p.Gln341Lys) | not specified [RCV004343323] | uncertain significance | 20 | 58991378 | 58991378 | Human | | name |
| 405813222 | CV3349894 | single nucleotide variant | NM_198976.4(NELFCD):c.1066A>G (p.Ser356Gly) | not specified [RCV004483747] | uncertain significance | 20 | 58991423 | 58991423 | Human | | name |
| 405813234 | CV3349900 | single nucleotide variant | NM_198976.4(NELFCD):c.1577C>T (p.Thr526Ile) | not specified [RCV004483753] | uncertain significance | 20 | 58993760 | 58993760 | Human | | name |
| 597639553 | CV3565519 | single nucleotide variant | NM_198976.4(NELFCD):c.1562T>C (p.Ile521Thr) | not specified [RCV004831862] | uncertain significance | 20 | 58993745 | 58993745 | Human | | name |
| 598231941 | CV3990751 | single nucleotide variant | NM_198976.4(NELFCD):c.1237G>A (p.Val413Met) | not specified [RCV005381451] | uncertain significance | 20 | 58993005 | 58993005 | Human | | name |
| 15140749 | CV710425 | microsatellite | NM_002904.6(NELFE):c.717CCGAGA[1] (p.237DR[2]) | not provided [RCV000966193] | benign | 6 | 31954569 | 31954574 | Human | | name |
| 15171928 | CV699529 | microsatellite | NM_002904.6(NELFE):c.610CGGGATCGAGAC[1] (p.205DR[3]) | not provided [RCV000949923] | benign | 6 | 31954664 | 31954675 | Human | | name |