| 11523016 | CV244144 | deletion | TM4SF20, 4-KB DEL | Specific language impairment 5 [RCV000235068] | pathogenic | | | | Human | 1 | name |
| 8573540 | CV76949 | deletion | TM4SF20, 4-KB DEL | Specific language impairment 5 [RCV000056282] | pathogenic | | | | Human | | name |
| 151738334 | CV1390012 | single nucleotide variant | NM_024795.4(TM4SF20):c.184-2A>T | not provided [RCV001893016] | uncertain significance | 2 | 227370982 | 227370982 | Human | | name |
| 156264847 | CV2189131 | single nucleotide variant | NM_024795.4(TM4SF20):c.249+4A>G | not provided [RCV003044248] | uncertain significance | 2 | 227370911 | 227370911 | Human | | name |
| 405220182 | CV2904172 | single nucleotide variant | NM_024795.4(TM4SF20):c.402-2A>G | not provided [RCV003568311] | uncertain significance | 2 | 227364014 | 227364014 | Human | | name |
| 408385242 | CV3526032 | single nucleotide variant | NM_024795.4(TM4SF20):c.250-2A>G | not provided [RCV005059923]|not specified [RCV004766943] | uncertain significance | 2 | 227366246 | 227366246 | Human | | name |
| 597906183 | CV3738731 | single nucleotide variant | NM_024795.4(TM4SF20):c.250-9A>C | not provided [RCV005072965] | likely benign | 2 | 227366253 | 227366253 | Human | | name |
| 127305620 | CV1154035 | single nucleotide variant | NM_024795.4(TM4SF20):c.249+13C>T | not provided [RCV001516337] | benign | 2 | 227370902 | 227370902 | Human | | name |
| 152063589 | CV1612114 | single nucleotide variant | NM_024795.4(TM4SF20):c.249+18G>A | not provided [RCV002128654] | likely benign | 2 | 227370897 | 227370897 | Human | | name |
| 152151009 | CV1661790 | single nucleotide variant | NM_024795.4(TM4SF20):c.401+10T>C | not provided [RCV002179447] | likely benign | 2 | 227366083 | 227366083 | Human | | name |
| 155954346 | CV2043921 | single nucleotide variant | NM_024795.4(TM4SF20):c.250-13T>C | not provided [RCV002775941] | likely benign | 2 | 227366257 | 227366257 | Human | | name |
| 597830211 | CV3746631 | single nucleotide variant | NM_024795.4(TM4SF20):c.402-17T>C | not provided [RCV005061917] | likely benign | 2 | 227364029 | 227364029 | Human | | name |
| 152115145 | CV1525990 | single nucleotide variant | NM_024795.4(TM4SF20):c.12C>T (p.Cys4=) | TM4SF20-related disorder [RCV003893134]|not provided [RCV002174831] | likely benign | 2 | 227379257 | 227379257 | Human | 1 | name , trait , alternate_id |
| 127316822 | CV1154037 | single nucleotide variant | NM_024795.4(TM4SF20):c.75C>T (p.Leu25=) | not provided [RCV001520723] | benign | 2 | 227379194 | 227379194 | Human | | name |
| 156060945 | CV1876357 | single nucleotide variant | NM_024795.4(TM4SF20):c.81G>A (p.Ala27=) | not provided [RCV003053341] | likely benign | 2 | 227379188 | 227379188 | Human | | name |
| 152093604 | CV1570633 | single nucleotide variant | NM_024795.4(TM4SF20):c.201A>G (p.Thr67=) | not provided [RCV002213063] | likely benign | 2 | 227370963 | 227370963 | Human | | name |
| 152139768 | CV1660693 | single nucleotide variant | NM_024795.4(TM4SF20):c.25T>G (p.Ser9Ala) | not provided [RCV002120198] | likely benign | 2 | 227379244 | 227379244 | Human | | name |
| 9831608 | CV166685 | duplication | NM_024795.3(TM4SF20):c.-14304_183+492dup | Preeclampsia [RCV000161251] | not provided | 2 | 227378594 | 227393572 | Human | | name |
| 405049635 | CV2887000 | single nucleotide variant | NM_024795.4(TM4SF20):c.228G>A (p.Ala76=) | TM4SF20-related disorder [RCV003966521]|not provided [RCV003579695] | likely benign | 2 | 227370936 | 227370936 | Human | 1 | name , trait , alternate_id |
| 597870978 | CV3849245 | single nucleotide variant | NM_024795.4(TM4SF20):c.240C>T (p.Asn80=) | not provided [RCV005197426] | likely benign | 2 | 227370924 | 227370924 | Human | | name |
| 127300673 | CV1154036 | single nucleotide variant | NM_024795.4(TM4SF20):c.80C>T (p.Ala27Val) | TM4SF20-related disorder [RCV003980520]|not provided [RCV001514309] | benign | 2 | 227379189 | 227379189 | Human | 1 | name , trait , alternate_id |
| 151813963 | CV1492165 | single nucleotide variant | NM_024795.4(TM4SF20):c.37T>C (p.Phe13Leu) | not provided [RCV002029248] | uncertain significance | 2 | 227379232 | 227379232 | Human | | name |
| 152107618 | CV1529878 | single nucleotide variant | NM_024795.4(TM4SF20):c.687G>A (p.Val229=) | not provided [RCV002196359] | likely benign | 2 | 227363727 | 227363727 | Human | | name |
| 152123807 | CV1546421 | single nucleotide variant | NM_024795.4(TM4SF20):c.636C>T (p.Ile212=) | TM4SF20-related disorder [RCV003903418]|not provided [RCV002118181] | benign | 2 | 227363778 | 227363778 | Human | 1 | name , trait , alternate_id |
| 152028137 | CV1642665 | single nucleotide variant | NM_024795.4(TM4SF20):c.654G>T (p.Leu218=) | not provided [RCV002185736] | benign | 2 | 227363760 | 227363760 | Human | | name |
| 152154268 | CV1643702 | single nucleotide variant | NM_024795.4(TM4SF20):c.83T>C (p.Ile28Thr) | TM4SF20-related disorder [RCV003923595]|not provided [RCV002122193] | likely benign | 2 | 227379186 | 227379186 | Human | 1 | name , trait , alternate_id |
| 156194309 | CV1889426 | single nucleotide variant | NM_024795.4(TM4SF20):c.85C>A (p.Pro29Thr) | not provided [RCV003083980] | uncertain significance | 2 | 227379184 | 227379184 | Human | | name |
| 156416780 | CV1970000 | single nucleotide variant | NM_024795.4(TM4SF20):c.32A>G (p.Asn11Ser) | not provided [RCV002589872] | uncertain significance | 2 | 227379237 | 227379237 | Human | | name |
| 155902535 | CV2010271 | single nucleotide variant | NM_024795.4(TM4SF20):c.486T>C (p.Ser162=) | not provided [RCV002726272] | likely benign | 2 | 227363928 | 227363928 | Human | | name |
| 156243202 | CV2231496 | single nucleotide variant | NM_024795.4(TM4SF20):c.73C>G (p.Leu25Val) | not specified [RCV004096563] | uncertain significance | 2 | 227379196 | 227379196 | Human | | name |
| 405251484 | CV3049999 | single nucleotide variant | NM_024795.4(TM4SF20):c.663C>T (p.Val221=) | not provided [RCV003721919] | likely benign | 2 | 227363751 | 227363751 | Human | | name |
| 405201823 | CV3066919 | single nucleotide variant | NM_024795.4(TM4SF20):c.639T>C (p.Gly213=) | not provided [RCV003730803] | likely benign | 2 | 227363775 | 227363775 | Human | | name |
| 407452753 | CV3475979 | single nucleotide variant | NM_024795.4(TM4SF20):c.70G>A (p.Val24Ile) | not specified [RCV004684202] | uncertain significance | 2 | 227379199 | 227379199 | Human | | name |
| 596948078 | CV3547670 | single nucleotide variant | NM_024795.4(TM4SF20):c.77A>G (p.Asn26Ser) | not provided [RCV004811975] | likely benign | 2 | 227379192 | 227379192 | Human | | name |
| 597960188 | CV3811470 | single nucleotide variant | NM_024795.4(TM4SF20):c.600T>C (p.Ile200=) | not provided [RCV005163317] | likely benign | 2 | 227363814 | 227363814 | Human | | name |
| 127299092 | CV1154034 | single nucleotide variant | NM_024795.4(TM4SF20):c.265C>T (p.Leu89Phe) | TM4SF20-related disorder [RCV003980513]|not provided [RCV001513550] | benign | 2 | 227366229 | 227366229 | Human | 1 | name , trait , alternate_id |
| 151822978 | CV1385422 | single nucleotide variant | NM_024795.4(TM4SF20):c.130C>T (p.Pro44Ser) | not provided [RCV001975926] | uncertain significance | 2 | 227379139 | 227379139 | Human | | name |
| 151882105 | CV1395997 | single nucleotide variant | NM_024795.4(TM4SF20):c.295C>G (p.Leu99Val) | not provided [RCV002037064] | uncertain significance | 2 | 227366199 | 227366199 | Human | | name |
| 153349286 | CV1694161 | single nucleotide variant | NM_024795.4(TM4SF20):c.271A>G (p.Ser91Gly) | Specific language impairment 5 [RCV002275678] | uncertain significance | 2 | 227366223 | 227366223 | Human | 1 | name |
| 156407074 | CV1963892 | single nucleotide variant | NM_024795.4(TM4SF20):c.156C>A (p.Phe52Leu) | not provided [RCV002586112] | likely benign | 2 | 227379113 | 227379113 | Human | | name |
| 156329642 | CV1990882 | single nucleotide variant | NM_024795.4(TM4SF20):c.233G>A (p.Cys78Tyr) | not provided [RCV002630856] | uncertain significance | 2 | 227370931 | 227370931 | Human | | name |
| 156029056 | CV2004814 | single nucleotide variant | NM_024795.4(TM4SF20):c.287T>C (p.Ile96Thr) | not provided [RCV002658579] | uncertain significance | 2 | 227366207 | 227366207 | Human | | name |
| 156032360 | CV2142139 | single nucleotide variant | NM_024795.4(TM4SF20):c.225A>T (p.Arg75Ser) | not provided [RCV002976661]|not specified [RCV004065168] | uncertain significance | 2 | 227370939 | 227370939 | Human | | name |
| 155996474 | CV2393186 | single nucleotide variant | NM_024795.4(TM4SF20):c.278T>C (p.Ile93Thr) | not provided [RCV003720749]|not specified [RCV004226661] | uncertain significance | 2 | 227366216 | 227366216 | Human | | name |
| 401867969 | CV2749164 | deletion | NM_024795.4(TM4SF20):c.322del (p.Ala108fs) | not specified [RCV003331990] | uncertain significance | 2 | 227366172 | 227366172 | Human | | name |
| 405784232 | CV3343018 | single nucleotide variant | NM_024795.4(TM4SF20):c.134T>C (p.Ile45Thr) | not specified [RCV004472503] | uncertain significance | 2 | 227379135 | 227379135 | Human | | name |
| 597775970 | CV3620069 | single nucleotide variant | NM_024795.4(TM4SF20):c.102A>T (p.Leu34Phe) | not specified [RCV004872675] | uncertain significance | 2 | 227379167 | 227379167 | Human | | name |
| 597857196 | CV3769461 | single nucleotide variant | NM_024795.4(TM4SF20):c.262T>C (p.Ser88Pro) | not provided [RCV005105502] | uncertain significance | 2 | 227366232 | 227366232 | Human | | name |
| 597943777 | CV3847762 | single nucleotide variant | NM_024795.4(TM4SF20):c.227C>T (p.Ala76Val) | not provided [RCV005188490] | uncertain significance | 2 | 227370937 | 227370937 | Human | | name |
| 598129369 | CV3888665 | single nucleotide variant | NM_024795.4(TM4SF20):c.235A>T (p.Asn79Tyr) | not provided [RCV005244839] | uncertain significance | 2 | 227370929 | 227370929 | Human | | name |
| 127231486 | CV1053876 | single nucleotide variant | NM_024795.4(TM4SF20):c.559A>G (p.Ile187Val) | Specific language impairment 5 [RCV001376141] | likely benign | 2 | 227363855 | 227363855 | Human | 1 | name |
| 127309344 | CV1154033 | single nucleotide variant | NM_024795.4(TM4SF20):c.374A>G (p.Asn125Ser) | not provided [RCV001517854] | benign | 2 | 227366120 | 227366120 | Human | | name |
| 151758650 | CV1340566 | single nucleotide variant | NM_024795.4(TM4SF20):c.512G>A (p.Arg171Lys) | not provided [RCV001913723] | uncertain significance | 2 | 227363902 | 227363902 | Human | | name |
| 151724374 | CV1369789 | single nucleotide variant | NM_024795.4(TM4SF20):c.417A>T (p.Glu139Asp) | not provided [RCV001945334] | uncertain significance | 2 | 227363997 | 227363997 | Human | | name |
| 151739306 | CV1490384 | single nucleotide variant | NM_024795.4(TM4SF20):c.531C>A (p.Phe177Leu) | not provided [RCV001985083] | uncertain significance | 2 | 227363883 | 227363883 | Human | | name |
| 152118953 | CV1600763 | single nucleotide variant | NM_024795.4(TM4SF20):c.572T>C (p.Val191Ala) | not provided [RCV002154008] | benign | 2 | 227363842 | 227363842 | Human | | name |
| 152049259 | CV1602291 | single nucleotide variant | NM_024795.4(TM4SF20):c.668A>C (p.Lys223Thr) | TM4SF20-related disorder [RCV003913698]|not provided [RCV002127031] | benign | 2 | 227363746 | 227363746 | Human | 1 | name , trait , alternate_id |
| 156263238 | CV1902827 | single nucleotide variant | NM_024795.4(TM4SF20):c.661G>A (p.Val221Ile) | not provided [RCV003086518]|not specified [RCV004073203] | uncertain significance | 2 | 227363753 | 227363753 | Human | | name |
| 156369505 | CV1920017 | single nucleotide variant | NM_024795.4(TM4SF20):c.349A>T (p.Asn117Tyr) | not provided [RCV002603063] | uncertain significance | 2 | 227366145 | 227366145 | Human | | name |
| 156113867 | CV1993781 | single nucleotide variant | NM_024795.4(TM4SF20):c.307C>G (p.Leu103Val) | not provided [RCV002662594] | uncertain significance | 2 | 227366187 | 227366187 | Human | | name |
| 156120126 | CV2015894 | single nucleotide variant | NM_024795.4(TM4SF20):c.607G>T (p.Val203Phe) | not provided [RCV002696004] | uncertain significance | 2 | 227363807 | 227363807 | Human | | name |
| 156181469 | CV2226081 | single nucleotide variant | NM_024795.4(TM4SF20):c.359G>C (p.Ser120Thr) | not specified [RCV004105226] | uncertain significance | 2 | 227366135 | 227366135 | Human | | name |
| 401734586 | CV2688567 | single nucleotide variant | NM_024795.4(TM4SF20):c.595G>A (p.Gly199Arg) | not specified [RCV004301526] | uncertain significance | 2 | 227363819 | 227363819 | Human | | name |
| 401933778 | CV2799526 | single nucleotide variant | NM_024795.4(TM4SF20):c.457C>T (p.Pro153Ser) | TM4SF20-related disorder [RCV003410569] | uncertain significance | 2 | 227363957 | 227363957 | Human | | name , trait , alternate_id |
| 401931670 | CV2803860 | single nucleotide variant | NM_024795.4(TM4SF20):c.589C>T (p.Leu197Phe) | TM4SF20-related disorder [RCV003408405] | uncertain significance | 2 | 227363825 | 227363825 | Human | | name , trait , alternate_id |
| 401948546 | CV2832644 | single nucleotide variant | NM_024795.4(TM4SF20):c.510G>A (p.Trp170Ter) | Specific language impairment 5 [RCV003448625] | uncertain significance | 2 | 227363904 | 227363904 | Human | 1 | name |
| 405784237 | CV3343019 | single nucleotide variant | NM_024795.4(TM4SF20):c.546C>G (p.Asn182Lys) | not specified [RCV004472504] | uncertain significance | 2 | 227363868 | 227363868 | Human | | name |
| 597775958 | CV3620065 | single nucleotide variant | NM_024795.4(TM4SF20):c.571G>A (p.Val191Ile) | not specified [RCV004872672] | uncertain significance | 2 | 227363843 | 227363843 | Human | | name |
| 597775961 | CV3620067 | single nucleotide variant | NM_024795.4(TM4SF20):c.463A>G (p.Thr155Ala) | not specified [RCV004872673] | uncertain significance | 2 | 227363951 | 227363951 | Human | | name |
| 597775965 | CV3620068 | single nucleotide variant | NM_024795.4(TM4SF20):c.492C>A (p.Asp164Glu) | not specified [RCV004872674] | uncertain significance | 2 | 227363922 | 227363922 | Human | | name |
| 597775971 | CV3620070 | single nucleotide variant | NM_024795.4(TM4SF20):c.678T>A (p.Ser226Arg) | not specified [RCV004872676] | uncertain significance | 2 | 227363736 | 227363736 | Human | | name |
| 597934593 | CV3810959 | single nucleotide variant | NM_024795.4(TM4SF20):c.443A>G (p.Asn148Ser) | not provided [RCV005157668] | uncertain significance | 2 | 227363971 | 227363971 | Human | | name |
| 598123363 | CV3884919 | single nucleotide variant | NM_024795.4(TM4SF20):c.671G>A (p.Arg224Gln) | not specified [RCV005238528] | uncertain significance | 2 | 227363743 | 227363743 | Human | | name |
| 598177326 | CV3920798 | single nucleotide variant | NM_024795.4(TM4SF20):c.653T>C (p.Leu218Pro) | not specified [RCV005285801] | uncertain significance | 2 | 227363761 | 227363761 | Human | | name |
| 598177332 | CV3920799 | single nucleotide variant | NM_024795.4(TM4SF20):c.513A>C (p.Arg171Ser) | not specified [RCV005285802] | uncertain significance | 2 | 227363901 | 227363901 | Human | | name |
| 598200015 | CV3920800 | single nucleotide variant | NM_024795.4(TM4SF20):c.680A>G (p.Gln227Arg) | not specified [RCV005289930] | likely benign | 2 | 227363734 | 227363734 | Human | | name |
| 597961903 | CV3840872 | microsatellite | NM_024795.4(TM4SF20):c.194CAA[2] (p.Thr67del) | not provided [RCV005193165] | uncertain significance | 2 | 227370962 | 227370964 | Human | | name |
| 597898905 | CV3740880 | microsatellite | NM_024795.4(TM4SF20):c.548_551del (p.Lys183fs) | not provided [RCV005072043] | uncertain significance | 2 | 227363863 | 227363866 | Human | | name |
| 151790825 | CV1394419 | deletion | NM_024795.4(TM4SF20):c.598_606del (p.Ile200_Glu202del) | not provided [RCV002047087] | uncertain significance | 2 | 227363808 | 227363816 | Human | | name |