| 405256940 | CV3185276 | single nucleotide variant | NM_177398.4(LMX1A):c.747+5C>T | LMX1A-related disorder [RCV003956638]|not provided [RCV003885840] | likely benign | 1 | 165210694 | 165210694 | Human | 1 | name , trait , alternate_id |
| 150444835 | CV1215391 | single nucleotide variant | NM_177398.4(LMX1A):c.670-76A>T | not provided [RCV001610984] | benign | 1 | 165210852 | 165210852 | Human | | name |
| 150454270 | CV1232240 | duplication | NM_177398.4(LMX1A):c.77-161dup | not provided [RCV001648253] | benign | 1 | 165353417 | 165353418 | Human | | name |
| 150456249 | CV1236860 | single nucleotide variant | NM_177398.4(LMX1A):c.747+62G>T | not provided [RCV001648596] | benign | 1 | 165210637 | 165210637 | Human | | name |
| 150484876 | CV1273793 | single nucleotide variant | NM_177398.4(LMX1A):c.496+11G>C | not provided [RCV001698597] | benign | 1 | 165249397 | 165249397 | Human | | name |
| 150480268 | CV1221936 | single nucleotide variant | NM_177398.4(LMX1A):c.-22-184C>T | not provided [RCV001616732] | benign | 1 | 165355765 | 165355765 | Human | | name |
| 150513920 | CV1227966 | single nucleotide variant | NM_177398.4(LMX1A):c.988+142G>A | not provided [RCV001638244] | benign | 1 | 165205722 | 165205722 | Human | | name |
| 150460929 | CV1231412 | single nucleotide variant | NM_177398.4(LMX1A):c.264-102T>A | not provided [RCV001640977] | benign | 1 | 165249742 | 165249742 | Human | | name |
| 150502104 | CV1241140 | single nucleotide variant | NM_177398.4(LMX1A):c.669+132C>T | not provided [RCV001657036] | benign | 1 | 165213509 | 165213509 | Human | | name |
| 150430362 | CV1242950 | single nucleotide variant | NM_177398.4(LMX1A):c.496+112T>C | not provided [RCV001662883] | benign | 1 | 165249296 | 165249296 | Human | | name |
| 150444833 | CV1266586 | single nucleotide variant | NM_177398.4(LMX1A):c.264-152T>C | not provided [RCV001691024] | benign | 1 | 165249792 | 165249792 | Human | | name |
| 150509689 | CV1284617 | single nucleotide variant | NM_177398.4(LMX1A):c.817+130A>G | not provided [RCV001720725] | benign | 1 | 165207933 | 165207933 | Human | | name |
| 150509692 | CV1284618 | single nucleotide variant | NM_177398.4(LMX1A):c.818-103C>T | not provided [RCV001720726] | benign | 1 | 165206137 | 165206137 | Human | | name |
| 150442415 | CV1287720 | single nucleotide variant | NM_177398.4(LMX1A):c.669+107G>A | not provided [RCV001725441] | benign | 1 | 165213534 | 165213534 | Human | | name |
| 8575018 | CV109358 | single nucleotide variant | NM_001174069.1(LMX1A):c.496+2881A>G | Lung cancer [RCV000089883] | uncertain significance | 1 | 165246527 | 165246527 | Human | | name |
| 408385123 | CV3505719 | microsatellite | NM_177398.4(LMX1A):c.263+3_263+6del | LMX1A-related disorder [RCV004732411] | uncertain significance | 1 | 165353070 | 165353073 | Human | | name , trait , alternate_id |
| 15150143 | CV731837 | single nucleotide variant | NM_177398.4(LMX1A):c.9C>T (p.Asp3=) | not provided [RCV000901087] | benign | 1 | 165355551 | 165355551 | Human | | name |
| 8575017 | CV109357 | single nucleotide variant | NM_001174069.1(LMX1A):c.496+15205G>A | Lung cancer [RCV000089882] | uncertain significance | 1 | 165234203 | 165234203 | Human | | name |
| 8575019 | CV109359 | single nucleotide variant | NM_001174069.1(LMX1A):c.263+47665G>T | Lung cancer [RCV000089884] | uncertain significance | 1 | 165305411 | 165305411 | Human | | name |
| 156168505 | CV2345439 | single nucleotide variant | NM_177398.4(LMX1A):c.11G>C (p.Gly4Ala) | not provided [RCV003883926]|not specified [RCV004198213] | likely benign|uncertain significance | 1 | 165355549 | 165355549 | Human | | name |
| 150516051 | CV1216422 | single nucleotide variant | NM_177398.4(LMX1A):c.462G>A (p.Leu154=) | not provided [RCV001608613] | benign | 1 | 165249442 | 165249442 | Human | | name |
| 150432944 | CV1231602 | deletion | NM_177398.4(LMX1A):c.496+156_496+168del | not provided [RCV001643264] | benign | 1 | 165249240 | 165249252 | Human | | name |
| 150505956 | CV1242095 | single nucleotide variant | NM_177398.4(LMX1A):c.349C>T (p.Leu117=) | Autosomal dominant nonsyndromic hearing loss 7 [RCV001730917]|not provided [RCV001658448] | benign | 1 | 165249555 | 165249555 | Human | 1 | name |
| 401921217 | CV2797936 | single nucleotide variant | NM_177398.4(LMX1A):c.95A>G (p.Lys32Arg) | LMX1A-related disorder [RCV003402856] | uncertain significance | 1 | 165353244 | 165353244 | Human | | name , trait , alternate_id |
| 401933131 | CV2806133 | single nucleotide variant | NM_177398.4(LMX1A):c.594G>A (p.Pro198=) | not provided [RCV003409219] | likely benign | 1 | 165213716 | 165213716 | Human | | name |
| 405272646 | CV3210111 | single nucleotide variant | NM_177398.4(LMX1A):c.339T>C (p.Ser113=) | LMX1A-related disorder [RCV003914360] | benign | 1 | 165249565 | 165249565 | Human | | name , trait , alternate_id |
| 405287191 | CV3210585 | single nucleotide variant | NM_177398.4(LMX1A):c.744G>A (p.Ala248=) | LMX1A-related disorder [RCV003924360] | likely benign | 1 | 165210702 | 165210702 | Human | | name , trait , alternate_id |
| 405278730 | CV3216768 | single nucleotide variant | NM_177398.4(LMX1A):c.639A>C (p.Ser213=) | LMX1A-related disorder [RCV003954640] | likely benign | 1 | 165213671 | 165213671 | Human | | name , trait , alternate_id |
| 405872089 | CV3398224 | single nucleotide variant | NM_177398.4(LMX1A):c.714C>T (p.Val238=) | not provided [RCV004575225] | uncertain significance | 1 | 165210732 | 165210732 | Human | | name |
| 598200598 | CV4007475 | single nucleotide variant | NM_177398.4(LMX1A):c.45C>G (p.Ile15Met) | Autosomal dominant nonsyndromic hearing loss 7 [RCV005398305] | uncertain significance | 1 | 165355515 | 165355515 | Human | 1 | name |
| 15098241 | CV696234 | single nucleotide variant | NM_177398.4(LMX1A):c.951C>T (p.Thr317=) | LMX1A-related disorder [RCV003915975]|not provided [RCV000958510] | benign | 1 | 165205901 | 165205901 | Human | 1 | name , trait , alternate_id |
| 150509704 | CV1284622 | single nucleotide variant | NM_177398.4(LMX1A):c.1050T>C (p.Asp350=) | Autosomal dominant nonsyndromic hearing loss 7 [RCV001730996]|not provided [RCV001720730] | benign | 1 | 165203979 | 165203979 | Human | 1 | name |
| 152999186 | CV1679630 | deletion | NM_177398.4(LMX1A):c.331del (p.Gln111fs) | Autosomal dominant nonsyndromic hearing loss 7 [RCV002251019] | likely pathogenic | 1 | 165249573 | 165249573 | Human | 1 | name |
| 401893802 | CV2759833 | single nucleotide variant | NM_177398.4(LMX1A):c.286G>A (p.Gly96Ser) | not specified [RCV004343266] | uncertain significance | 1 | 165249618 | 165249618 | Human | | name |
| 401933799 | CV2799698 | single nucleotide variant | NM_177398.4(LMX1A):c.146G>A (p.Arg49Gln) | LMX1A-related disorder [RCV003410594] | uncertain significance | 1 | 165353193 | 165353193 | Human | | name , trait , alternate_id |
| 407471137 | CV3445810 | single nucleotide variant | NM_177398.4(LMX1A):c.159C>G (p.Ser53Arg) | not specified [RCV004637295] | uncertain significance | 1 | 165353180 | 165353180 | Human | | name |
| 616939025 | CV4015352 | single nucleotide variant | NM_177398.4(LMX1A):c.241T>C (p.Tyr81His) | not provided [RCV005412863] | uncertain significance | 1 | 165353098 | 165353098 | Human | | name |
| 21405277 | CV800759 | single nucleotide variant | NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser) | Autosomal dominant nonsyndromic hearing loss 7 [RCV001003346] | pathogenic | 1 | 165249614 | 165249614 | Human | 1 | name |
| 155267888 | CV1701431 | single nucleotide variant | NM_177398.4(LMX1A):c.595A>G (p.Arg199Gly) | Autosomal dominant nonsyndromic hearing loss 7 [RCV002283656] | pathogenic | 1 | 165213715 | 165213715 | Human | 1 | name |
| 155719852 | CV1780677 | single nucleotide variant | NM_177398.4(LMX1A):c.622C>T (p.Arg208Ter) | Autosomal dominant nonsyndromic hearing loss 7 [RCV002306278] | pathogenic | 1 | 165213688 | 165213688 | Human | 1 | name |
| 155794402 | CV1858524 | deletion | NM_177398.4(LMX1A):c.263+5059_263+5145del | Schizophrenia [RCV002463486] | uncertain significance | 1 | 165347931 | 165348017 | Human | 2 | name |
| 155798513 | CV1862040 | single nucleotide variant | NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu) | Autosomal dominant nonsyndromic hearing loss 7 [RCV002471443] | uncertain significance | 1 | 165213729 | 165213729 | Human | 1 | name |
| 156179598 | CV2201670 | single nucleotide variant | NM_177398.4(LMX1A):c.898C>A (p.Leu300Met) | not specified [RCV004082126] | uncertain significance | 1 | 165205954 | 165205954 | Human | | name |
| 156185071 | CV2294920 | single nucleotide variant | NM_177398.4(LMX1A):c.872C>T (p.Thr291Met) | not specified [RCV004156069] | uncertain significance | 1 | 165205980 | 165205980 | Human | | name |
| 155942391 | CV2301167 | single nucleotide variant | NM_177398.4(LMX1A):c.580C>G (p.Arg194Gly) | not specified [RCV004160076] | uncertain significance | 1 | 165213730 | 165213730 | Human | | name |
| 243058667 | CV2413124 | single nucleotide variant | NM_177398.4(LMX1A):c.874G>A (p.Ala292Thr) | Autosomal dominant nonsyndromic hearing loss 7 [RCV003134087] | uncertain significance | 1 | 165205978 | 165205978 | Human | 1 | name |
| 329953784 | CV2668636 | single nucleotide variant | NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter) | Autosomal dominant nonsyndromic hearing loss 7 [RCV003230243] | likely pathogenic | 1 | 165205915 | 165205915 | Human | 1 | name |
| 401734143 | CV2697966 | single nucleotide variant | NM_177398.4(LMX1A):c.994G>A (p.Glu332Lys) | not specified [RCV004302453] | uncertain significance | 1 | 165204035 | 165204035 | Human | | name |
| 401797528 | CV2740909 | single nucleotide variant | NM_177398.4(LMX1A):c.766C>T (p.Arg256Ter) | not provided [RCV003322073] | likely pathogenic | 1 | 165208114 | 165208114 | Human | | name |
| 401865947 | CV2786207 | single nucleotide variant | NM_177398.4(LMX1A):c.642T>G (p.Phe214Leu) | not specified [RCV004360003] | uncertain significance | 1 | 165213668 | 165213668 | Human | | name |
| 401933852 | CV2797841 | single nucleotide variant | NM_177398.4(LMX1A):c.938G>A (p.Arg313Gln) | LMX1A-related disorder [RCV003410731]|not specified [RCV005363108] | uncertain significance | 1 | 165205914 | 165205914 | Human | 1 | name , trait , alternate_id |
| 401947048 | CV2832158 | single nucleotide variant | NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys) | Autosomal dominant nonsyndromic hearing loss 7 [RCV003447683] | uncertain significance | 1 | 165249587 | 165249587 | Human | 1 | name |
| 405295488 | CV3216082 | single nucleotide variant | NM_177398.4(LMX1A):c.883A>C (p.Thr295Pro) | LMX1A-related disorder [RCV003937412] | likely benign | 1 | 165205969 | 165205969 | Human | | name , trait , alternate_id |
| 405810027 | CV3287831 | single nucleotide variant | NM_177398.4(LMX1A):c.488C>T (p.Ser163Leu) | not specified [RCV004407793] | uncertain significance | 1 | 165249416 | 165249416 | Human | | name |
| 405810031 | CV3287833 | single nucleotide variant | NM_177398.4(LMX1A):c.535C>T (p.His179Tyr) | not specified [RCV004407795] | uncertain significance | 1 | 165213775 | 165213775 | Human | | name |
| 405810034 | CV3287834 | single nucleotide variant | NM_177398.4(LMX1A):c.571G>A (p.Asp191Asn) | not specified [RCV004407796] | uncertain significance | 1 | 165213739 | 165213739 | Human | | name |
| 405810036 | CV3287835 | single nucleotide variant | NM_177398.4(LMX1A):c.818C>T (p.Ala273Val) | not specified [RCV004407797] | uncertain significance | 1 | 165206034 | 165206034 | Human | | name |
| 405810038 | CV3287836 | single nucleotide variant | NM_177398.4(LMX1A):c.849G>A (p.Met283Ile) | not specified [RCV004407798] | uncertain significance | 1 | 165206003 | 165206003 | Human | | name |
| 407471142 | CV3445811 | single nucleotide variant | NM_177398.4(LMX1A):c.923G>T (p.Ser308Ile) | not specified [RCV004637296] | uncertain significance | 1 | 165205929 | 165205929 | Human | | name |
| 407471147 | CV3445812 | single nucleotide variant | NM_177398.4(LMX1A):c.847A>T (p.Met283Leu) | not specified [RCV004637297] | uncertain significance | 1 | 165206005 | 165206005 | Human | | name |
| 408366436 | CV3510378 | single nucleotide variant | NM_177398.4(LMX1A):c.454C>T (p.Arg152Trp) | LMX1A-related disorder [RCV004756712]|not specified [RCV004935378] | uncertain significance | 1 | 165249450 | 165249450 | Human | 1 | name , trait , alternate_id |
| 408366702 | CV3514978 | single nucleotide variant | NM_177398.4(LMX1A):c.581G>A (p.Arg194His) | Autosomal dominant nonsyndromic hearing loss 7 [RCV005392875]|LMX1A-related disorder [RCV004756949] | uncertain significance | 1 | 165213729 | 165213729 | Human | 1 | name , trait , alternate_id |
| 408366890 | CV3517789 | single nucleotide variant | NM_177398.4(LMX1A):c.580C>T (p.Arg194Cys) | LMX1A-related disorder [RCV004757075] | uncertain significance | 1 | 165213730 | 165213730 | Human | | name , trait , alternate_id |
| 596924856 | CV3536774 | single nucleotide variant | NM_177398.4(LMX1A):c.915T>G (p.Ser305Arg) | Autosomal dominant nonsyndromic hearing loss 7 [RCV004785768] | uncertain significance | 1 | 165205937 | 165205937 | Human | 1 | name |
| 596947958 | CV3547549 | single nucleotide variant | NM_177398.4(LMX1A):c.556G>T (p.Ala186Ser) | not provided [RCV004811853] | likely benign | 1 | 165213754 | 165213754 | Human | | name |
| 597796225 | CV3701803 | single nucleotide variant | NM_177398.4(LMX1A):c.985T>C (p.Tyr329His) | not specified [RCV004935067] | uncertain significance | 1 | 165205867 | 165205867 | Human | | name |
| 597623293 | CV3701804 | single nucleotide variant | NM_177398.4(LMX1A):c.584C>A (p.Pro195His) | not specified [RCV004936324] | uncertain significance | 1 | 165213726 | 165213726 | Human | | name |
| 597721767 | CV3733811 | single nucleotide variant | NM_177398.4(LMX1A):c.596G>A (p.Arg199Lys) | Autosomal dominant nonsyndromic hearing loss 7 [RCV005053116] | likely pathogenic | 1 | 165213714 | 165213714 | Human | 1 | name |
| 597830287 | CV3735297 | single nucleotide variant | NM_177398.4(LMX1A):c.683T>A (p.Leu228Gln) | Autosomal dominant nonsyndromic hearing loss 7 [RCV005055043] | uncertain significance | 1 | 165210763 | 165210763 | Human | 1 | name |
| 598238402 | CV3991696 | single nucleotide variant | NM_177398.4(LMX1A):c.329C>T (p.Ala110Val) | not specified [RCV005364242] | uncertain significance | 1 | 165249575 | 165249575 | Human | | name |
| 616939010 | CV4015338 | single nucleotide variant | NM_177398.4(LMX1A):c.972C>A (p.Asp324Glu) | not provided [RCV005412848] | uncertain significance | 1 | 165205880 | 165205880 | Human | | name |
| 21405276 | CV800758 | single nucleotide variant | NM_177398.4(LMX1A):c.721G>C (p.Val241Leu) | Autosomal dominant nonsyndromic hearing loss 7 [RCV001003345] | pathogenic | 1 | 165210725 | 165210725 | Human | 1 | name |
| 156401574 | CV2207406 | single nucleotide variant | NM_177398.4(LMX1A):c.1093G>A (p.Val365Met) | not specified [RCV004088104] | uncertain significance | 1 | 165203936 | 165203936 | Human | | name |
| 329353540 | CV2466858 | single nucleotide variant | NM_177398.4(LMX1A):c.1021G>C (p.Asp341His) | not specified [RCV004282632] | uncertain significance | 1 | 165204008 | 165204008 | Human | | name |
| 401779281 | CV2709662 | single nucleotide variant | NM_177398.4(LMX1A):c.1060G>A (p.Ala354Thr) | not specified [RCV004318874] | uncertain significance | 1 | 165203969 | 165203969 | Human | | name |
| 401721525 | CV2710008 | single nucleotide variant | NM_177398.4(LMX1A):c.1025A>G (p.Asp342Gly) | not specified [RCV004315073] | uncertain significance | 1 | 165204004 | 165204004 | Human | | name |
| 597796228 | CV3701805 | single nucleotide variant | NM_177398.4(LMX1A):c.1000C>G (p.Leu334Val) | not specified [RCV004935068] | uncertain significance | 1 | 165204029 | 165204029 | Human | | name |
| 13795381 | CV508758 | single nucleotide variant | NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) | Autosomal-Recessive Hereditary Hearing Impairment [RCV001034598]|Sensorineural hearing loss disorder [RCV000680188]|not provided [RCV001003347] | pathogenic|likely pathogenic|uncertain significance | 1 | 165203923 | 165203923 | Human | 2 | name |
| 8629062 | CV84206 | single nucleotide variant | NM_001174069.1(LMX1A):c.906C>T (p.Ile302=) | Malignant melanoma [RCV000064287] | not provided | 1 | 165205946 | 165205946 | Human | | name |
| 405274896 | CV3204471 | microsatellite | NM_177398.4(LMX1A):c.554CTG[1] (p.Ala186del) | LMX1A-related disorder [RCV003951907] | likely benign | 1 | 165213751 | 165213753 | Human | | name , trait , alternate_id |
| 405262927 | CV3189440 | microsatellite | NM_177398.4(LMX1A):c.771GCA[6] (p.Gln262_Asp263insGln) | LMX1A-related disorder [RCV003896674] | likely benign | 1 | 165208094 | 165208095 | Human | | name , trait , alternate_id |
