| 13521878 | CV424698 | single nucleotide variant | NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV000590991]|not provided [RCV002248725] | likely pathogenic|uncertain significance | 4 | 139137692 | 139137692 | Human | 1 | name |
| 8625715 | CV80839 | single nucleotide variant | NM_006874.3(ELF2):c.500A>T (p.Tyr167Phe) | Malignant melanoma [RCV000060916] | not provided | 4 | 139061991 | 139061991 | Human | | name |
| 401762459 | CV2723450 | single nucleotide variant | NM_001331036.3(ELF2):c.84G>C (p.Lys28Asn) | not specified [RCV004323524] | uncertain significance | 4 | 139125318 | 139125318 | Human | | name |
| 597665781 | CV3670837 | single nucleotide variant | NM_001331036.3(ELF2):c.64A>C (p.Asn22His) | not specified [RCV004912465] | uncertain significance | 4 | 139137638 | 139137638 | Human | | name |
| 597665860 | CV3670847 | single nucleotide variant | NM_001331036.3(ELF2):c.31A>G (p.Thr11Ala) | not specified [RCV004912475] | uncertain significance | 4 | 139137671 | 139137671 | Human | | name |
| 156049286 | CV2370781 | single nucleotide variant | NM_001331036.3(ELF2):c.223G>A (p.Glu75Lys) | not specified [RCV004209178] | uncertain significance | 4 | 139125179 | 139125179 | Human | | name |
| 401723670 | CV2675036 | single nucleotide variant | NM_001331036.3(ELF2):c.184A>G (p.Met62Val) | not specified [RCV004296337] | uncertain significance | 4 | 139125218 | 139125218 | Human | | name |
| 401923515 | CV2820182 | single nucleotide variant | NM_001331036.3(ELF2):c.1395A>G (p.Thr465=) | not provided [RCV003435168] | likely benign | 4 | 139059370 | 139059370 | Human | | name |
| 407506510 | CV3438251 | single nucleotide variant | NM_001331036.3(ELF2):c.173A>G (p.Asp58Gly) | not specified [RCV004624721] | uncertain significance | 4 | 139125229 | 139125229 | Human | | name |
| 156380144 | CV2211814 | single nucleotide variant | NM_001331036.3(ELF2):c.406A>G (p.Met136Val) | not specified [RCV004086641] | uncertain significance | 4 | 139071986 | 139071986 | Human | | name |
| 405738191 | CV3238874 | single nucleotide variant | NM_001331036.3(ELF2):c.411G>C (p.Arg137Ser) | not specified [RCV004380143] | uncertain significance | 4 | 139071981 | 139071981 | Human | | name |
| 405738197 | CV3238875 | single nucleotide variant | NM_001331036.3(ELF2):c.415G>A (p.Asp139Asn) | not specified [RCV004380144] | uncertain significance | 4 | 139071977 | 139071977 | Human | | name |
| 405738204 | CV3238876 | single nucleotide variant | NM_001331036.3(ELF2):c.527T>C (p.Val176Ala) | not specified [RCV004380145] | uncertain significance | 4 | 139067770 | 139067770 | Human | | name |
| 405738211 | CV3238877 | single nucleotide variant | NM_001331036.3(ELF2):c.985A>G (p.Ser329Gly) | not specified [RCV004380146] | uncertain significance | 4 | 139060496 | 139060496 | Human | | name |
| 597665798 | CV3670839 | single nucleotide variant | NM_001331036.3(ELF2):c.431C>A (p.Thr144Asn) | not specified [RCV004912467] | uncertain significance | 4 | 139071961 | 139071961 | Human | | name |
| 597665867 | CV3670848 | single nucleotide variant | NM_001331036.3(ELF2):c.398A>G (p.His133Arg) | not specified [RCV004912476] | uncertain significance | 4 | 139071994 | 139071994 | Human | | name |
| 597665877 | CV3670850 | single nucleotide variant | NM_001331036.3(ELF2):c.922A>G (p.Asn308Asp) | not specified [RCV004912477] | uncertain significance | 4 | 139060559 | 139060559 | Human | | name |
| 598190458 | CV3957680 | single nucleotide variant | NM_001331036.3(ELF2):c.886A>G (p.Ile296Val) | not specified [RCV005334699] | uncertain significance | 4 | 139060595 | 139060595 | Human | | name |
| 598190478 | CV3957683 | single nucleotide variant | NM_001331036.3(ELF2):c.421A>T (p.Ile141Phe) | not specified [RCV005334702] | uncertain significance | 4 | 139071971 | 139071971 | Human | | name |
| 598190486 | CV3957684 | single nucleotide variant | NM_001331036.3(ELF2):c.403G>C (p.Ala135Pro) | not specified [RCV005334703] | uncertain significance | 4 | 139071989 | 139071989 | Human | | name |
| 156189844 | CV2205980 | single nucleotide variant | NM_001331036.3(ELF2):c.1178A>G (p.Gln393Arg) | not specified [RCV004078401] | uncertain significance | 4 | 139059587 | 139059587 | Human | | name |
| 156336551 | CV2228562 | single nucleotide variant | NM_001331036.3(ELF2):c.1531T>A (p.Ser511Thr) | not specified [RCV004092799] | uncertain significance | 4 | 139059234 | 139059234 | Human | | name |
| 156066571 | CV2284592 | single nucleotide variant | NM_001331036.3(ELF2):c.1148C>T (p.Ala383Val) | not specified [RCV004140758] | uncertain significance | 4 | 139060333 | 139060333 | Human | | name |
| 156056373 | CV2326657 | single nucleotide variant | NM_001331036.3(ELF2):c.1318A>C (p.Thr440Pro) | not specified [RCV004185237] | uncertain significance | 4 | 139059447 | 139059447 | Human | | name |
| 156328041 | CV2332195 | single nucleotide variant | NM_001331036.3(ELF2):c.1729A>G (p.Ile577Val) | not specified [RCV004189230] | uncertain significance | 4 | 139059036 | 139059036 | Human | | name |
| 156391823 | CV2382628 | single nucleotide variant | NM_001331036.3(ELF2):c.1610C>T (p.Ser537Leu) | not specified [RCV004232951] | uncertain significance | 4 | 139059155 | 139059155 | Human | | name |
| 329397139 | CV2456631 | single nucleotide variant | NM_001331036.3(ELF2):c.1541C>T (p.Thr514Ile) | not specified [RCV004277818] | uncertain significance | 4 | 139059224 | 139059224 | Human | | name |
| 405738188 | CV3238873 | single nucleotide variant | NM_001331036.3(ELF2):c.1186G>C (p.Val396Leu) | not specified [RCV004380142] | uncertain significance | 4 | 139059579 | 139059579 | Human | | name |
| 407506513 | CV3438252 | single nucleotide variant | NM_001331036.3(ELF2):c.1203G>T (p.Leu401Phe) | not specified [RCV004624722] | uncertain significance | 4 | 139059562 | 139059562 | Human | | name |
| 407506517 | CV3438253 | single nucleotide variant | NM_001331036.3(ELF2):c.1079A>G (p.Asn360Ser) | not specified [RCV004624723] | uncertain significance | 4 | 139060402 | 139060402 | Human | | name |
| 407506520 | CV3438254 | single nucleotide variant | NM_001331036.3(ELF2):c.1022A>G (p.Lys341Arg) | not specified [RCV004624724] | uncertain significance | 4 | 139060459 | 139060459 | Human | | name |
| 407506525 | CV3438255 | single nucleotide variant | NM_001331036.3(ELF2):c.1621G>A (p.Ala541Thr) | not specified [RCV004624725] | uncertain significance | 4 | 139059144 | 139059144 | Human | | name |
| 597665772 | CV3670836 | single nucleotide variant | NM_001331036.3(ELF2):c.1013G>A (p.Arg338His) | not specified [RCV004912464] | uncertain significance | 4 | 139060468 | 139060468 | Human | | name |
| 597665790 | CV3670838 | single nucleotide variant | NM_001331036.3(ELF2):c.1314C>G (p.Ile438Met) | not specified [RCV004912466] | uncertain significance | 4 | 139059451 | 139059451 | Human | | name |
| 597665804 | CV3670840 | single nucleotide variant | NM_001331036.3(ELF2):c.1350C>G (p.Asp450Glu) | not specified [RCV004912468] | uncertain significance | 4 | 139059415 | 139059415 | Human | | name |
| 597665811 | CV3670841 | single nucleotide variant | NM_001331036.3(ELF2):c.1640A>T (p.Asp547Val) | not specified [RCV004912469] | uncertain significance | 4 | 139059125 | 139059125 | Human | | name |
| 597665819 | CV3670842 | single nucleotide variant | NM_001331036.3(ELF2):c.1072G>A (p.Val358Ile) | not specified [RCV004912470] | uncertain significance | 4 | 139060409 | 139060409 | Human | | name |
| 597665828 | CV3670843 | single nucleotide variant | NM_001331036.3(ELF2):c.1549G>T (p.Ala517Ser) | not specified [RCV004912471] | uncertain significance | 4 | 139059216 | 139059216 | Human | | name |
| 597665836 | CV3670844 | single nucleotide variant | NM_001331036.3(ELF2):c.1312A>G (p.Ile438Val) | not specified [RCV004912472] | uncertain significance | 4 | 139059453 | 139059453 | Human | | name |
| 597665851 | CV3670846 | single nucleotide variant | NM_001331036.3(ELF2):c.1145C>T (p.Thr382Ile) | not specified [RCV004912474] | uncertain significance | 4 | 139060336 | 139060336 | Human | | name |
| 597746846 | CV3670849 | single nucleotide variant | NM_001331036.3(ELF2):c.1331C>G (p.Ala444Gly) | not specified [RCV004922780] | uncertain significance | 4 | 139059434 | 139059434 | Human | | name |
| 598190451 | CV3957679 | single nucleotide variant | NM_001331036.3(ELF2):c.1036A>G (p.Ile346Val) | not specified [RCV005334698] | likely benign | 4 | 139060445 | 139060445 | Human | | name |
| 598190465 | CV3957681 | single nucleotide variant | NM_001331036.3(ELF2):c.1117C>T (p.Pro373Ser) | not specified [RCV005334700] | uncertain significance | 4 | 139060364 | 139060364 | Human | | name |
| 598190470 | CV3957682 | single nucleotide variant | NM_001331036.3(ELF2):c.1009G>C (p.Val337Leu) | not specified [RCV005334701] | uncertain significance | 4 | 139060472 | 139060472 | Human | | name |