| 150439519 | CV1247730 | single nucleotide variant | NM_005702.4(ERAL1):c.*65G>T | not provided [RCV001666097] | benign | 17 | 28860618 | 28860618 | Human | 3 | name |
| 150439519 | CV1247730 | single nucleotide variant | NM_005702.4(ERAL1):c.*65G>T | not provided [RCV001666097] | benign | 17 | 28860618 | 28860619 | Human | 3 | name |
| 150468357 | CV1257042 | single nucleotide variant | NM_005702.4(ERAL1):c.*218C>T | not provided [RCV001670688] | benign | 17 | 28860771 | 28860771 | Human | 8 | name |
| 150468357 | CV1257042 | single nucleotide variant | NM_005702.4(ERAL1):c.*218C>T | not provided [RCV001670688] | benign | 17 | 28860771 | 28860772 | Human | 8 | name |
| 405258237 | CV3208293 | single nucleotide variant | NM_005702.4(ERAL1):c.412-8C>T | ERAL1-related disorder [RCV003941721] | benign | 17 | 28856497 | 28856497 | Human | | name , trait , alternate_id |
| 8627948 | CV83092 | single nucleotide variant | NM_005702.2(ERAL1):c.490-1G>A | Malignant melanoma [RCV000063172] | not provided | 17 | 28857938 | 28857938 | Human | | name |
| 150333713 | CV1172974 | single nucleotide variant | NM_005702.4(ERAL1):c.411+53G>A | not provided [RCV001539626] | benign | 17 | 28856444 | 28856444 | Human | | name |
| 8585299 | CV119882 | single nucleotide variant | NM_005702.2(ERAL1):c.284-51C>A | Lung cancer [RCV000100402] | uncertain significance | 17 | 28856213 | 28856213 | Human | | name |
| 150438758 | CV1221209 | single nucleotide variant | NM_005702.4(ERAL1):c.284-127C>G | not provided [RCV001609903] | benign | 17 | 28856137 | 28856137 | Human | 1 | name |
| 150438758 | CV1221209 | single nucleotide variant | NM_005702.4(ERAL1):c.284-127C>G | not provided [RCV001609903] | benign | 17 | 28856137 | 28856138 | Human | 1 | name |
| 150445545 | CV1278170 | deletion | NM_005702.4(ERAL1):c.489+147del | not provided [RCV001707313] | benign | 17 | 28856715 | 28856715 | Human | | name |
| 150509253 | CV1284491 | single nucleotide variant | NM_005702.4(ERAL1):c.284-178G>A | not provided [RCV001720599] | benign | 17 | 28856086 | 28856086 | Human | 6 | name |
| 150463653 | CV1263837 | single nucleotide variant | NM_005702.4(ERAL1):c.1191+177T>C | not provided [RCV001682538] | benign | 17 | 28859460 | 28859460 | Human | | name |
| 405283361 | CV3217116 | single nucleotide variant | NM_005702.4(ERAL1):c.81G>A (p.Arg27=) | ERAL1-related disorder [RCV003979233] | likely benign | 17 | 28855115 | 28855115 | Human | | name , trait , alternate_id |
| 405740093 | CV3249367 | single nucleotide variant | NM_005702.4(ERAL1):c.8C>T (p.Ala3Val) | not specified [RCV004380446] | uncertain significance | 17 | 28855042 | 28855042 | Human | | name |
| 156250319 | CV2215654 | single nucleotide variant | NM_005702.4(ERAL1):c.18G>C (p.Trp6Cys) | not specified [RCV004089399] | uncertain significance | 17 | 28855052 | 28855052 | Human | | name |
| 156231334 | CV2348756 | single nucleotide variant | NM_005702.4(ERAL1):c.22G>A (p.Gly8Arg) | not specified [RCV004203206] | uncertain significance | 17 | 28855056 | 28855056 | Human | | name |
| 405740072 | CV3249364 | single nucleotide variant | NM_005702.4(ERAL1):c.26C>T (p.Ala9Val) | not specified [RCV004380443] | uncertain significance | 17 | 28855060 | 28855060 | Human | | name |
| 150436552 | CV1245321 | single nucleotide variant | NM_005702.4(ERAL1):c.945C>T (p.Asp315=) | Perrault syndrome 6 [RCV001661288]|not provided [RCV001694152] | benign | 17 | 28858809 | 28858809 | Human | 1 | name |
| 405270529 | CV3213308 | single nucleotide variant | NM_005702.4(ERAL1):c.723G>A (p.Leu241=) | ERAL1-related disorder [RCV003971402] | benign | 17 | 28858587 | 28858587 | Human | | name , trait , alternate_id |
| 597804107 | CV3671403 | single nucleotide variant | NM_005702.4(ERAL1):c.73G>A (p.Val25Ile) | not specified [RCV004907528] | uncertain significance | 17 | 28855107 | 28855107 | Human | | name |
| 126730463 | CV1021616 | single nucleotide variant | NM_005702.4(ERAL1):c.151G>A (p.Ala51Thr) | Perrault syndrome 6 [RCV001333441] | uncertain significance | 17 | 28855185 | 28855185 | Human | 1 | name |
| 156049895 | CV2271839 | single nucleotide variant | NM_005702.4(ERAL1):c.172G>A (p.Ala58Thr) | not specified [RCV004130666] | uncertain significance | 17 | 28855206 | 28855206 | Human | | name |
| 156077953 | CV2291697 | single nucleotide variant | NM_005702.4(ERAL1):c.163C>A (p.Pro55Thr) | not specified [RCV004155978] | uncertain significance | 17 | 28855197 | 28855197 | Human | | name |
| 156082897 | CV2301206 | single nucleotide variant | NM_005702.4(ERAL1):c.245C>T (p.Ser82Leu) | not specified [RCV004160112] | uncertain significance | 17 | 28855279 | 28855279 | Human | | name |
| 329358014 | CV2453857 | single nucleotide variant | NM_005702.4(ERAL1):c.133T>A (p.Ser45Thr) | not specified [RCV004271253] | uncertain significance | 17 | 28855167 | 28855167 | Human | | name |
| 401857735 | CV2750525 | single nucleotide variant | NM_005702.4(ERAL1):c.1011A>C (p.Ala337=) | not provided [RCV003334198] | likely benign | 17 | 28859014 | 28859014 | Human | | name |
| 401896698 | CV2791962 | single nucleotide variant | NM_005702.4(ERAL1):c.188G>T (p.Ser63Ile) | not specified [RCV004359382] | uncertain significance | 17 | 28855222 | 28855222 | Human | | name |
| 405268335 | CV3219613 | single nucleotide variant | NM_005702.4(ERAL1):c.1107G>A (p.Gln369=) | ERAL1-related disorder [RCV003969816] | likely benign | 17 | 28859110 | 28859110 | Human | | name , trait , alternate_id |
| 152033188 | CV1519373 | single nucleotide variant | NM_005702.4(ERAL1):c.685A>T (p.Ile229Phe) | Hearing impairment [RCV002086729] | uncertain significance | 17 | 28858460 | 28858460 | Human | 2 | name |
| 401725717 | CV2735938 | single nucleotide variant | NM_005702.4(ERAL1):c.356T>A (p.Leu119Gln) | not provided [RCV003312382] | uncertain significance | 17 | 28856336 | 28856336 | Human | | name |
| 405261258 | CV3212500 | single nucleotide variant | NM_005702.4(ERAL1):c.542A>G (p.His181Arg) | ERAL1-related disorder [RCV003944427] | likely benign | 17 | 28858151 | 28858151 | Human | | name , trait , alternate_id |
| 405282655 | CV3213037 | single nucleotide variant | NM_005702.4(ERAL1):c.890T>C (p.Ile297Thr) | ERAL1-related disorder [RCV003957133] | likely benign | 17 | 28858754 | 28858754 | Human | | name , trait , alternate_id |
| 405265960 | CV3215774 | single nucleotide variant | NM_005702.4(ERAL1):c.454G>A (p.Ala152Thr) | ERAL1-related disorder [RCV003946930] | likely benign | 17 | 28856547 | 28856547 | Human | | name , trait , alternate_id |
| 405740079 | CV3249365 | single nucleotide variant | NM_005702.4(ERAL1):c.601G>T (p.Val201Leu) | not specified [RCV004380444] | uncertain significance | 17 | 28858376 | 28858376 | Human | | name |
| 405740086 | CV3249366 | single nucleotide variant | NM_005702.4(ERAL1):c.782G>T (p.Gly261Val) | not specified [RCV004380445] | uncertain significance | 17 | 28858646 | 28858646 | Human | | name |
| 405740099 | CV3249368 | single nucleotide variant | NM_005702.4(ERAL1):c.902A>G (p.His301Arg) | not specified [RCV004380447] | uncertain significance | 17 | 28858766 | 28858766 | Human | | name |
| 407479493 | CV3441912 | single nucleotide variant | NM_005702.4(ERAL1):c.596T>C (p.Leu199Pro) | not specified [RCV004617788] | uncertain significance | 17 | 28858205 | 28858205 | Human | | name |
| 407479498 | CV3441913 | single nucleotide variant | NM_005702.4(ERAL1):c.991C>T (p.Pro331Ser) | not specified [RCV004617789] | uncertain significance | 17 | 28858994 | 28858994 | Human | | name |
| 407479503 | CV3441915 | single nucleotide variant | NM_005702.4(ERAL1):c.439A>G (p.Thr147Ala) | not specified [RCV004617791] | uncertain significance | 17 | 28856532 | 28856532 | Human | | name |
| 408367725 | CV3513051 | single nucleotide variant | NM_005702.4(ERAL1):c.951A>C (p.Lys317Asn) | ERAL1-related disorder [RCV004759151] | likely benign | 17 | 28858815 | 28858815 | Human | | name , trait , alternate_id |
| 597804104 | CV3671401 | single nucleotide variant | NM_005702.4(ERAL1):c.511A>G (p.Ile171Val) | not specified [RCV004907526] | uncertain significance | 17 | 28857960 | 28857960 | Human | | name |
| 598169943 | CV3961626 | single nucleotide variant | NM_005702.4(ERAL1):c.752C>T (p.Thr251Met) | not specified [RCV005330582] | uncertain significance | 17 | 28858616 | 28858616 | Human | | name |
| 598169950 | CV3961628 | single nucleotide variant | NM_005702.4(ERAL1):c.532A>C (p.Lys178Gln) | not specified [RCV005330584] | uncertain significance | 17 | 28857981 | 28857981 | Human | | name |
| 598169953 | CV3961629 | single nucleotide variant | NM_005702.4(ERAL1):c.763A>C (p.Thr255Pro) | not specified [RCV005330585] | uncertain significance | 17 | 28858627 | 28858627 | Human | | name |
| 617152635 | CV4017865 | single nucleotide variant | NM_005702.4(ERAL1):c.919A>T (p.Met307Leu) | Perrault syndrome 6 [RCV005417654] | uncertain significance | 17 | 28858783 | 28858783 | Human | 1 | name |
| 13207964 | CV424018 | single nucleotide variant | NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile) | Perrault syndrome 6 [RCV000494893]|Perrault syndrome [RCV002527117] | pathogenic|likely pathogenic|not provided | 17 | 28858482 | 28858482 | Human | 2 | name |
| 126730461 | CV1021617 | single nucleotide variant | NM_005702.4(ERAL1):c.1057C>T (p.Arg353Ter) | Perrault syndrome 6 [RCV001333440] | pathogenic | 17 | 28859060 | 28859060 | Human | | name |
| 156144371 | CV2264975 | single nucleotide variant | NM_005702.4(ERAL1):c.1038G>T (p.Glu346Asp) | not specified [RCV004126149] | uncertain significance | 17 | 28859041 | 28859041 | Human | | name |
| 329362228 | CV2466194 | single nucleotide variant | NM_005702.4(ERAL1):c.1271T>G (p.Leu424Arg) | not specified [RCV004279837] | uncertain significance | 17 | 28860510 | 28860510 | Human | | name |
| 401773505 | CV2709346 | single nucleotide variant | NM_005702.4(ERAL1):c.1031C>G (p.Pro344Arg) | not specified [RCV004316490] | uncertain significance | 17 | 28859034 | 28859034 | Human | | name |
| 597804100 | CV3671399 | single nucleotide variant | NM_005702.4(ERAL1):c.1250A>G (p.His417Arg) | not specified [RCV004907524] | likely benign | 17 | 28860489 | 28860489 | Human | | name |
| 597804102 | CV3671400 | single nucleotide variant | NM_005702.4(ERAL1):c.1195C>T (p.Leu399Phe) | not specified [RCV004907525] | uncertain significance | 17 | 28860434 | 28860434 | Human | | name |
| 597804109 | CV3671404 | single nucleotide variant | NM_005702.4(ERAL1):c.1306C>T (p.Leu436Phe) | not specified [RCV004907529] | uncertain significance | 17 | 28860545 | 28860545 | Human | | name |
| 598169946 | CV3961627 | single nucleotide variant | NM_005702.4(ERAL1):c.1093C>T (p.Pro365Ser) | not specified [RCV005330583] | uncertain significance | 17 | 28859096 | 28859096 | Human | | name |
| 598169956 | CV3961630 | single nucleotide variant | NM_005702.4(ERAL1):c.1105C>A (p.Gln369Lys) | not specified [RCV005330586] | uncertain significance | 17 | 28859108 | 28859108 | Human | | name |