| 155802701 | CV1857695 | single nucleotide variant | NM_001040616.3(LINS1):c.-5T>A | Inborn genetic diseases [RCV002461553] | uncertain significance | 15 | 100580847 | 100580847 | Human | 1 | name |
| 150462891 | CV1234978 | single nucleotide variant | NM_001040616.3(LINS1):c.*85T>C | not provided [RCV001649560] | benign | 15 | 100569153 | 100569153 | Human | | name |
| 150482324 | CV1247436 | single nucleotide variant | NM_001040616.3(LINS1):c.*51G>A | not provided [RCV001673261] | benign | 15 | 100569187 | 100569187 | Human | | name |
| 150332460 | CV1172665 | single nucleotide variant | NM_001040616.3(LINS1):c.*200A>G | not provided [RCV001539046] | benign | 15 | 100569038 | 100569038 | Human | | name |
| 150502629 | CV1212280 | single nucleotide variant | NM_001040616.3(LINS1):c.*317A>G | not provided [RCV001595154] | benign | 15 | 100568921 | 100568921 | Human | | name |
| 150495670 | CV1225133 | single nucleotide variant | NM_001040616.3(LINS1):c.*221C>A | not provided [RCV001619611] | benign | 15 | 100569017 | 100569017 | Human | | name |
| 150475697 | CV1239775 | duplication | NM_001040616.3(LINS1):c.*115dup | not provided [RCV001651952] | benign | 15 | 100569122 | 100569123 | Human | | name |
| 150502795 | CV1254622 | single nucleotide variant | NM_001040616.3(LINS1):c.*189T>C | not provided [RCV001677324] | benign | 15 | 100569049 | 100569049 | Human | | name |
| 150460844 | CV1270573 | single nucleotide variant | NM_001040616.3(LINS1):c.*167A>G | not provided [RCV001693563] | benign | 15 | 100569071 | 100569071 | Human | | name |
| 150478419 | CV1271055 | single nucleotide variant | NM_001040616.3(LINS1):c.*216T>C | not provided [RCV001696491] | benign | 15 | 100569022 | 100569022 | Human | | name |
| 155802662 | CV1857653 | single nucleotide variant | NM_001040616.3(LINS1):c.399+4A>G | Inborn genetic diseases [RCV002461510] | uncertain significance | 15 | 100580440 | 100580440 | Human | 1 | name |
| 401964171 | CV2843533 | single nucleotide variant | NM_001040616.3(LINS1):c.631+1G>A | Intellectual disability, autosomal recessive 27 [RCV003479876] | likely pathogenic | 15 | 100574986 | 100574986 | Human | 1 | name |
| 39456907 | CV966284 | single nucleotide variant | NM_001040616.3(LINS1):c.490-1G>C | Intellectual disability, autosomal recessive 27 [RCV004799367] | likely pathogenic | 15 | 100575129 | 100575129 | Human | 1 | name |
| 150477557 | CV1272063 | single nucleotide variant | NM_001040616.3(LINS1):c.631+33A>G | not provided [RCV001696348] | benign | 15 | 100574954 | 100574954 | Human | | name |
| 10403779 | CV208150 | single nucleotide variant | NM_001040616.3(LINS1):c.1394+4A>G | Inborn genetic diseases [RCV002460973]|not specified [RCV000193381] | uncertain significance | 15 | 100571890 | 100571890 | Human | 1 | name |
| 11060078 | CV226943 | single nucleotide variant | NM_001040616.3(LINS1):c.1394+1G>T | Inborn genetic diseases [RCV000210706] | pathogenic|likely pathogenic | 15 | 100571893 | 100571893 | Human | 1 | name |
| 243058728 | CV2409839 | single nucleotide variant | NM_001040616.3(LINS1):c.1222+2T>C | Intellectual disability, autosomal recessive 27 [RCV003147013] | likely pathogenic | 15 | 100573649 | 100573649 | Human | 1 | name |
| 405291065 | CV3208717 | single nucleotide variant | NM_001040616.3(LINS1):c.1394+9A>T | LINS1-related disorder [RCV003927304] | likely benign | 15 | 100571885 | 100571885 | Human | | name , trait , alternate_id |
| 150487714 | CV1225953 | single nucleotide variant | NM_001040616.3(LINS1):c.1395-34A>G | not provided [RCV001618114] | benign | 15 | 100570151 | 100570151 | Human | | name |
| 150517388 | CV1226838 | single nucleotide variant | NM_001040616.3(LINS1):c.1223-72A>G | not provided [RCV001639932] | benign | 15 | 100572137 | 100572137 | Human | | name |
| 150449982 | CV1254052 | single nucleotide variant | NM_001040616.3(LINS1):c.490-115G>T | not provided [RCV001667689] | benign | 15 | 100575243 | 100575243 | Human | | name |
| 150442356 | CV1266216 | single nucleotide variant | NM_001040616.3(LINS1):c.632-194A>G | not provided [RCV001690652] | benign | 15 | 100574435 | 100574435 | Human | | name |
| 150475433 | CV1279055 | single nucleotide variant | NM_001040616.3(LINS1):c.490-249C>G | not provided [RCV001713840] | benign | 15 | 100575377 | 100575377 | Human | | name |
| 401904535 | CV2814529 | deletion | NM_001040616.3(LINS1):c.1222+21del | not provided [RCV003395063] | likely benign | 15 | 100573630 | 100573630 | Human | | name |
| 150513830 | CV1227922 | single nucleotide variant | NM_001040616.3(LINS1):c.1222+108G>A | not provided [RCV001638200] | benign | 15 | 100573543 | 100573543 | Human | | name |
| 150450986 | CV1232742 | single nucleotide variant | NM_001040616.3(LINS1):c.1394+167T>C | not provided [RCV001647817] | benign | 15 | 100571727 | 100571727 | Human | | name |
| 150473621 | CV1234311 | duplication | NM_001040616.3(LINS1):c.1222+142dup | not provided [RCV001651630] | benign | 15 | 100573495 | 100573496 | Human | | name |
| 150443837 | CV1249332 | single nucleotide variant | NM_001040616.3(LINS1):c.1395-321G>A | not provided [RCV001666764] | benign | 15 | 100570438 | 100570438 | Human | | name |
| 150489724 | CV1250908 | deletion | NM_001040616.3(LINS1):c.1222+336del | not provided [RCV001674575] | benign | 15 | 100573315 | 100573315 | Human | | name |
| 150472052 | CV1270194 | single nucleotide variant | NM_001040616.3(LINS1):c.1395-243G>A | not provided [RCV001695482] | benign | 15 | 100570360 | 100570360 | Human | | name |
| 150514134 | CV1228070 | deletion | NM_001040616.3(LINS1):c.*112_*115del | not provided [RCV001638348] | benign | 15 | 100569123 | 100569126 | Human | | name |
| 150447301 | CV1270293 | duplication | NM_001040616.3(LINS1):c.*114_*115dup | not provided [RCV001691428] | benign | 15 | 100569122 | 100569123 | Human | | name |
| 8591069 | CV125791 | deletion | NM_001040616.3(LINS1):c.1219_1222+1del | Intellectual disability [RCV004798777]|Intellectual disability, autosomal recessive 27 [RCV000106306] | pathogenic | 15 | 100573650 | 100573654 | Human | 3 | name |
| 150504546 | CV1211415 | deletion | NM_001040616.3(LINS1):c.632-38_632-37del | not provided [RCV001595580] | benign | 15 | 100574278 | 100574279 | Human | | name |
| 155802558 | CV1857556 | single nucleotide variant | NM_001040616.3(LINS1):c.228G>A (p.Leu76=) | Inborn genetic diseases [RCV002461413] | likely benign | 15 | 100580615 | 100580615 | Human | 1 | name |
| 15102218 | CV703058 | variation | NM_001040616.3(LINS1):c.1216= (p.Val406=) | not provided [RCV000959249] | benign | 15 | 100573657 | 100573657 | Human | | name |
| 150443261 | CV1266370 | deletion | NM_001040616.3(LINS1):c.1395-52_1395-51del | not provided [RCV001690806] | benign | 15 | 100570168 | 100570169 | Human | | name |
| 150555877 | CV1305372 | duplication | NM_001040616.3(LINS1):c.154dup (p.Thr52fs) | not provided [RCV001773305] | uncertain significance | 15 | 100580688 | 100580689 | Human | | name |
| 155802541 | CV1857542 | single nucleotide variant | NM_001040616.3(LINS1):c.651G>C (p.Leu217=) | Inborn genetic diseases [RCV002461399] | likely benign | 15 | 100574222 | 100574222 | Human | 1 | name |
| 155802565 | CV1857562 | single nucleotide variant | NM_001040616.3(LINS1):c.975G>A (p.Pro325=) | Inborn genetic diseases [RCV002461419] | likely benign | 15 | 100573898 | 100573898 | Human | 1 | name |
| 10403880 | CV208153 | single nucleotide variant | NM_001040616.3(LINS1):c.864C>T (p.Thr288=) | Inborn genetic diseases [RCV002460976]|not provided [RCV000931381]|not specified [RCV000193625] | benign|likely benign|uncertain significance | 15 | 100574009 | 100574009 | Human | 1 | name |
| 405266797 | CV3186707 | single nucleotide variant | NM_001040616.3(LINS1):c.837A>G (p.Lys279=) | not provided [RCV003886788] | likely benign | 15 | 100574036 | 100574036 | Human | | name |
| 408370015 | CV3502978 | single nucleotide variant | NM_001040616.3(LINS1):c.79G>A (p.Asp27Asn) | not provided [RCV004724099] | uncertain significance | 15 | 100580764 | 100580764 | Human | | name |
| 39458160 | CV429613 | single nucleotide variant | NM_001040616.3(LINS1):c.975G>T (p.Pro325=) | not specified [RCV001257275] | likely benign | 15 | 100573898 | 100573898 | Human | | name |
| 13214136 | CV429615 | single nucleotide variant | NM_001040616.3(LINS1):c.747G>C (p.Leu249=) | not specified [RCV000500889] | likely benign | 15 | 100574126 | 100574126 | Human | | name |
| 13531287 | CV512112 | single nucleotide variant | NM_001040616.3(LINS1):c.52G>A (p.Gly18Arg) | Inborn genetic diseases [RCV000623204]|LINS1-related disorder [RCV003965305]|not provided [RCV000968316] | likely benign|uncertain significance | 15 | 100580791 | 100580791 | Human | 2 | name , trait , alternate_id |
| 13829805 | CV579980 | single nucleotide variant | NM_001040616.3(LINS1):c.807T>C (p.His269=) | Inborn genetic diseases [RCV002462097] | likely benign | 15 | 100574066 | 100574066 | Human | 1 | name |
| 13828269 | CV579990 | single nucleotide variant | NM_001040616.3(LINS1):c.660C>T (p.Phe220=) | Inborn genetic diseases [RCV002462066]|not provided [RCV001683631] | benign | 15 | 100574213 | 100574213 | Human | 1 | name |
| 13829977 | CV579991 | single nucleotide variant | NM_001040616.3(LINS1):c.312G>A (p.Leu104=) | Inborn genetic diseases [RCV002462101]|not provided [RCV000911883] | likely benign | 15 | 100580531 | 100580531 | Human | 1 | name |
| 13828264 | CV579999 | single nucleotide variant | NM_001040616.3(LINS1):c.85A>G (p.Ile29Val) | Inborn genetic diseases [RCV002462065]|not provided [RCV001637114] | benign | 15 | 100580758 | 100580758 | Human | 1 | name |
| 13829996 | CV580217 | single nucleotide variant | NM_001040616.3(LINS1):c.993G>A (p.Ala331=) | Inborn genetic diseases [RCV002462103] | likely benign | 15 | 100573880 | 100573880 | Human | 1 | name |
| 13829098 | CV580226 | single nucleotide variant | NM_001040616.3(LINS1):c.615A>G (p.Ser205=) | Inborn genetic diseases [RCV002462084]|not provided [RCV000885957] | benign|likely benign | 15 | 100575003 | 100575003 | Human | 1 | name |
| 15154203 | CV754281 | single nucleotide variant | NM_001040616.3(LINS1):c.987T>C (p.His329=) | Inborn genetic diseases [RCV002462225]|not provided [RCV000924212] | likely benign | 15 | 100573886 | 100573886 | Human | 1 | name |
| 15194428 | CV754282 | single nucleotide variant | NM_001040616.3(LINS1):c.663C>T (p.Asp221=) | not provided [RCV000911123] | likely benign | 15 | 100574210 | 100574210 | Human | | name |
| 15178785 | CV770029 | single nucleotide variant | NM_001040616.3(LINS1):c.840A>G (p.Pro280=) | not provided [RCV000929480] | likely benign | 15 | 100574033 | 100574033 | Human | | name |
| 126731288 | CV1021280 | single nucleotide variant | NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile) | Intellectual disability, autosomal recessive 27 [RCV001333676]|not specified [RCV002282521] | uncertain significance | 15 | 100580709 | 100580709 | Human | 1 | name |
| 155803984 | CV1856881 | single nucleotide variant | NM_001040616.3(LINS1):c.2163T>C (p.Asp721=) | Inborn genetic diseases [RCV002463231] | likely benign | 15 | 100569349 | 100569349 | Human | 1 | name |
| 155803986 | CV1856884 | single nucleotide variant | NM_001040616.3(LINS1):c.2121A>T (p.Gly707=) | Inborn genetic diseases [RCV002463234] | likely benign | 15 | 100569391 | 100569391 | Human | 1 | name |
| 155803993 | CV1856894 | single nucleotide variant | NM_001040616.3(LINS1):c.2178G>A (p.Leu726=) | Inborn genetic diseases [RCV002463244] | likely benign | 15 | 100569334 | 100569334 | Human | 1 | name |
| 155803995 | CV1856898 | single nucleotide variant | NM_001040616.3(LINS1):c.1668T>C (p.Ile556=) | Inborn genetic diseases [RCV002463248] | likely benign | 15 | 100569844 | 100569844 | Human | 1 | name |
| 155804007 | CV1856911 | single nucleotide variant | NM_001040616.3(LINS1):c.172A>G (p.Arg58Gly) | Inborn genetic diseases [RCV002463261] | uncertain significance | 15 | 100580671 | 100580671 | Human | 1 | name |
| 155804034 | CV1856960 | single nucleotide variant | NM_001040616.3(LINS1):c.205A>G (p.Ile69Val) | Inborn genetic diseases [RCV002463310] | likely benign | 15 | 100580638 | 100580638 | Human | 1 | name |
| 155802679 | CV1857675 | single nucleotide variant | NM_001040616.3(LINS1):c.194G>A (p.Gly65Asp) | Inborn genetic diseases [RCV002461533] | uncertain significance | 15 | 100580649 | 100580649 | Human | 1 | name |
| 155802691 | CV1857686 | single nucleotide variant | NM_001040616.3(LINS1):c.1296C>T (p.His432=) | Inborn genetic diseases [RCV002461544] | likely benign | 15 | 100571992 | 100571992 | Human | 1 | name |
| 10404114 | CV208149 | single nucleotide variant | NM_001040616.3(LINS1):c.1632C>T (p.Asn544=) | not provided [RCV003992228]|not specified [RCV000194228] | likely benign|uncertain significance | 15 | 100569880 | 100569880 | Human | | name |
| 10404154 | CV208152 | single nucleotide variant | NM_001040616.3(LINS1):c.1194A>G (p.Gln398=) | Inborn genetic diseases [RCV002460971]|not provided [RCV000963488]|not specified [RCV000194345] | benign|likely benign|uncertain significance | 15 | 100573679 | 100573679 | Human | 1 | name |
| 156222171 | CV2232668 | single nucleotide variant | NM_001040616.3(LINS1):c.271C>T (p.Leu91Phe) | Inborn genetic diseases [RCV002767107] | uncertain significance | 15 | 100580572 | 100580572 | Human | 1 | name |
| 401725690 | CV2737241 | single nucleotide variant | NM_001040616.3(LINS1):c.281C>T (p.Thr94Ile) | not provided [RCV003314180] | uncertain significance | 15 | 100580562 | 100580562 | Human | | name |
| 401870353 | CV2749350 | single nucleotide variant | NM_001040616.3(LINS1):c.274C>T (p.Gln92Ter) | not provided [RCV003332478] | pathogenic|likely pathogenic | 15 | 100580569 | 100580569 | Human | | name |
| 401904534 | CV2814528 | single nucleotide variant | NM_001040616.3(LINS1):c.1659C>T (p.Asp553=) | not provided [RCV003395062] | likely benign | 15 | 100569853 | 100569853 | Human | | name |
| 405266495 | CV3186647 | single nucleotide variant | NM_001040616.3(LINS1):c.1368A>G (p.Ser456=) | not provided [RCV003886728] | likely benign | 15 | 100571920 | 100571920 | Human | | name |
| 405277992 | CV3205286 | single nucleotide variant | NM_001040616.3(LINS1):c.1488G>A (p.Leu496=) | LINS1-related disorder [RCV003954325] | likely benign | 15 | 100570024 | 100570024 | Human | | name , trait , alternate_id |
| 616939797 | CV4014498 | single nucleotide variant | NM_001040616.3(LINS1):c.1995G>C (p.Gly665=) | not provided [RCV005413992] | likely benign | 15 | 100569517 | 100569517 | Human | | name |
| 617151094 | CV4021876 | single nucleotide variant | NM_001040616.3(LINS1):c.1425G>A (p.Gln475=) | not provided [RCV005426837] | likely benign | 15 | 100570087 | 100570087 | Human | | name |
| 13214035 | CV429609 | single nucleotide variant | NM_001040616.3(LINS1):c.1908C>T (p.Asp636=) | not specified [RCV000500629] | likely benign | 15 | 100569604 | 100569604 | Human | | name |
| 13215339 | CV429610 | single nucleotide variant | NM_001040616.3(LINS1):c.1887C>T (p.Tyr629=) | Inborn genetic diseases [RCV002461257]|not provided [RCV000974026]|not specified [RCV000502384] | benign|likely benign | 15 | 100569625 | 100569625 | Human | 1 | name |
| 13216231 | CV429611 | single nucleotide variant | NM_001040616.3(LINS1):c.1851G>T (p.Leu617=) | Inborn genetic diseases [RCV002461258]|not provided [RCV000761923]|not specified [RCV000503513] | likely benign | 15 | 100569661 | 100569661 | Human | 1 | name |
| 13213526 | CV429612 | single nucleotide variant | NM_001040616.3(LINS1):c.1479T>C (p.Cys493=) | Inborn genetic diseases [RCV002461259]|not provided [RCV000584946]|not specified [RCV000500117] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 100570033 | 100570033 | Human | 1 | name |
| 13462780 | CV438689 | deletion | NM_001040616.3(LINS1):c.431del (p.Leu144fs) | Intellectual disability, autosomal recessive 27 [RCV001814175]|not provided [RCV000514816] | likely pathogenic|conflicting interpretations of pathogenicity | 15 | 100580321 | 100580321 | Human | 1 | name |
| 13829761 | CV579921 | single nucleotide variant | NM_001040616.3(LINS1):c.1285C>T (p.Leu429=) | Inborn genetic diseases [RCV002462096]|not provided [RCV000884881]|not specified [RCV001816777] | benign|likely benign | 15 | 100572003 | 100572003 | Human | 1 | name |
| 13828262 | CV579925 | single nucleotide variant | NM_001040616.3(LINS1):c.1128T>C (p.Ser376=) | Inborn genetic diseases [RCV002462064]|not provided [RCV001712779] | benign | 15 | 100573745 | 100573745 | Human | 1 | name |
| 13828270 | CV579973 | single nucleotide variant | NM_001040616.3(LINS1):c.1452A>T (p.Thr484=) | Inborn genetic diseases [RCV002462067]|not provided [RCV001683632] | benign | 15 | 100570060 | 100570060 | Human | 1 | name |
| 13828365 | CV579975 | single nucleotide variant | NM_001040616.3(LINS1):c.1302G>A (p.Pro434=) | Inborn genetic diseases [RCV002462076]|LINS1-related disorder [RCV003980333]|not provided [RCV000959248] | benign|likely benign | 15 | 100571986 | 100571986 | Human | 2 | name , trait , alternate_id |
| 13829304 | CV579978 | single nucleotide variant | NM_001040616.3(LINS1):c.1320G>A (p.Arg440=) | Inborn genetic diseases [RCV002462087] | likely benign | 15 | 100571968 | 100571968 | Human | 1 | name |
| 13829053 | CV579995 | single nucleotide variant | NM_001040616.3(LINS1):c.267G>A (p.Met89Ile) | Inborn genetic diseases [RCV002462082]|not specified [RCV004768608] | likely benign|uncertain significance | 15 | 100580576 | 100580576 | Human | 1 | name |
| 13828305 | CV580199 | single nucleotide variant | NM_001040616.3(LINS1):c.2034A>G (p.Pro678=) | Inborn genetic diseases [RCV002462073]|not provided [RCV004704194] | likely benign | 15 | 100569478 | 100569478 | Human | 1 | name |
| 13828271 | CV580207 | single nucleotide variant | NM_001040616.3(LINS1):c.1899C>T (p.Asp633=) | Inborn genetic diseases [RCV002462068]|not provided [RCV001725197] | benign | 15 | 100569613 | 100569613 | Human | 1 | name |
| 13828273 | CV580213 | single nucleotide variant | NM_001040616.3(LINS1):c.1824G>T (p.Gly608=) | Inborn genetic diseases [RCV002462070]|not provided [RCV001613437] | benign | 15 | 100569688 | 100569688 | Human | 1 | name |
| 13838002 | CV589301 | deletion | NM_001040616.3(LINS1):c.304del (p.Arg102fs) | Intellectual disability, autosomal recessive 27 [RCV002470966]|not provided [RCV000734583] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 15 | 100580539 | 100580539 | Human | 1 | name |
| 15186664 | CV703057 | single nucleotide variant | NM_001040616.3(LINS1):c.1314G>A (p.Leu438=) | not provided [RCV000953352] | likely benign | 15 | 100571974 | 100571974 | Human | | name |
| 15110612 | CV754280 | single nucleotide variant | NM_001040616.3(LINS1):c.2097A>G (p.Pro699=) | not provided [RCV000916567] | likely benign | 15 | 100569415 | 100569415 | Human | | name |
| 25319847 | CV805807 | deletion | NM_001040616.3(LINS1):c.809del (p.Phe270fs) | not provided [RCV001009079] | pathogenic | 15 | 100574064 | 100574064 | Human | | name |
| 243052642 | CV970504 | deletion | NM_001040616.3(LINS1):c.597del (p.Glu200fs) | Intellectual disability, autosomal recessive 27 [RCV003153966] | likely pathogenic | 15 | 100575021 | 100575021 | Human | 1 | name |
| 126734807 | CV1021277 | single nucleotide variant | NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn) | Intellectual disability, autosomal recessive 27 [RCV001334704] | uncertain significance | 15 | 100573876 | 100573876 | Human | 1 | name |
| 127261768 | CV1087377 | single nucleotide variant | NM_001040616.3(LINS1):c.725C>G (p.Thr242Ser) | Intellectual disability, autosomal recessive 27 [RCV001420654] | uncertain significance | 15 | 100574148 | 100574148 | Human | 1 | name |
| 155264748 | CV1698929 | single nucleotide variant | NM_001040616.3(LINS1):c.361A>C (p.Lys121Gln) | Intellectual disability, autosomal recessive 27 [RCV002282782] | likely benign | 15 | 100580482 | 100580482 | Human | 1 | name |
| 155803990 | CV1856889 | single nucleotide variant | NM_001040616.3(LINS1):c.525G>T (p.Gln175His) | Inborn genetic diseases [RCV002463239] | uncertain significance | 15 | 100575093 | 100575093 | Human | 1 | name |
| 155803997 | CV1856900 | single nucleotide variant | NM_001040616.3(LINS1):c.607A>G (p.Lys203Glu) | Inborn genetic diseases [RCV002463250] | uncertain significance | 15 | 100575011 | 100575011 | Human | 1 | name |
| 155804023 | CV1856942 | single nucleotide variant | NM_001040616.3(LINS1):c.392C>G (p.Ser131Cys) | Inborn genetic diseases [RCV002463292] | uncertain significance | 15 | 100580451 | 100580451 | Human | 1 | name |
| 155802550 | CV1857550 | single nucleotide variant | NM_001040616.3(LINS1):c.781G>A (p.Ala261Thr) | Inborn genetic diseases [RCV002461407] | uncertain significance | 15 | 100574092 | 100574092 | Human | 1 | name |
| 10403392 | CV208154 | single nucleotide variant | NM_001040616.3(LINS1):c.718C>T (p.Arg240Trp) | Inborn genetic diseases [RCV002460975]|not provided [RCV000880506]|not specified [RCV000192421] | benign|likely benign|uncertain significance | 15 | 100574155 | 100574155 | Human | 1 | name |
| 10404243 | CV208155 | single nucleotide variant | NM_001040616.3(LINS1):c.569G>T (p.Cys190Phe) | not specified [RCV000194593] | uncertain significance | 15 | 100575049 | 100575049 | Human | | name |
| 156130022 | CV2238584 | single nucleotide variant | NM_001040616.3(LINS1):c.917G>T (p.Cys306Phe) | Inborn genetic diseases [RCV002762874] | uncertain significance | 15 | 100573956 | 100573956 | Human | 1 | name |
| 156249311 | CV2286594 | single nucleotide variant | NM_001040616.3(LINS1):c.550A>C (p.Ser184Arg) | Inborn genetic diseases [RCV002854736] | uncertain significance | 15 | 100575068 | 100575068 | Human | 1 | name |
| 156101829 | CV2386810 | single nucleotide variant | NM_001040616.3(LINS1):c.632A>G (p.Glu211Gly) | Inborn genetic diseases [RCV002739154] | uncertain significance | 15 | 100574241 | 100574241 | Human | 1 | name |
| 243058761 | CV2413089 | single nucleotide variant | NM_001040616.3(LINS1):c.562A>G (p.Ile188Val) | Intellectual disability, autosomal recessive 27 [RCV003134069] | uncertain significance | 15 | 100575056 | 100575056 | Human | 1 | name |
| 243054152 | CV2413090 | single nucleotide variant | NM_001040616.3(LINS1):c.332A>C (p.His111Pro) | Intellectual disability, autosomal recessive 27 [RCV003131482] | uncertain significance | 15 | 100580511 | 100580511 | Human | 1 | name |
| 401914124 | CV2830565 | duplication | NM_001040616.3(LINS1):c.1873dup (p.Ser625fs) | not provided [RCV003442303] | likely pathogenic|conflicting interpretations of pathogenicity | 15 | 100569638 | 100569639 | Human | | name |
| 407459718 | CV3496869 | deletion | NM_001040616.3(LINS1):c.1116del (p.Glu372fs) | Autism [RCV004698684] | pathogenic | 15 | 100573757 | 100573757 | Human | 2 | name |
| 596924934 | CV3536826 | duplication | NM_001040616.3(LINS1):c.1665dup (p.Ile556fs) | Intellectual disability, autosomal recessive 27 [RCV004785820] | uncertain significance | 15 | 100569846 | 100569847 | Human | 1 | name |
| 12741556 | CV361846 | single nucleotide variant | NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys) | Intellectual disability, autosomal recessive 27 [RCV000415720] | likely pathogenic | 15 | 100573936 | 100573936 | Human | 1 | name |
| 12905847 | CV413414 | single nucleotide variant | NM_001040616.3(LINS1):c.554A>G (p.Asn185Ser) | Inborn genetic diseases [RCV002461248]|not provided [RCV000488075] | likely benign|uncertain significance | 15 | 100575064 | 100575064 | Human | 1 | name |
| 13216843 | CV429614 | single nucleotide variant | NM_001040616.3(LINS1):c.848T>A (p.Met283Lys) | not specified [RCV000504266] | uncertain significance | 15 | 100574025 | 100574025 | Human | | name |
| 13516533 | CV491130 | duplication | NM_001040616.3(LINS1):c.1780dup (p.Ser594fs) | not provided [RCV000595642] | uncertain significance | 15 | 100569731 | 100569732 | Human | | name |
| 13830056 | CV579930 | single nucleotide variant | NM_001040616.3(LINS1):c.842C>G (p.Ser281Cys) | Inborn genetic diseases [RCV002462105]|not provided [RCV003330920] | uncertain significance | 15 | 100574031 | 100574031 | Human | 1 | name |
| 13828355 | CV579982 | single nucleotide variant | NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn) | Inborn genetic diseases [RCV002462074]|Intellectual disability, autosomal recessive 27 [RCV001333682] | uncertain significance | 15 | 100574212 | 100574212 | Human | 2 | name |
| 13830014 | CV579986 | single nucleotide variant | NM_001040616.3(LINS1):c.778A>G (p.Ile260Val) | Inborn genetic diseases [RCV002462104] | uncertain significance | 15 | 100574095 | 100574095 | Human | 1 | name |
| 13828997 | CV580224 | single nucleotide variant | NM_001040616.3(LINS1):c.992C>T (p.Ala331Val) | Inborn genetic diseases [RCV002462081]|not provided [RCV000962382] | benign | 15 | 100573881 | 100573881 | Human | 1 | name |
| 15199128 | CV770030 | single nucleotide variant | NM_001040616.3(LINS1):c.418T>A (p.Ser140Thr) | Inborn genetic diseases [RCV002462230]|not provided [RCV000935012] | benign|likely benign|uncertain significance | 15 | 100580334 | 100580334 | Human | 1 | name |
| 21068811 | CV788885 | single nucleotide variant | NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) | Intellectual disability, autosomal recessive 27 [RCV000984987] | pathogenic|likely pathogenic | 15 | 100574156 | 100574156 | Human | 1 | name |
| 38596969 | CV801896 | single nucleotide variant | NM_001040616.3(LINS1):c.839C>T (p.Pro280Leu) | Microcephaly [RCV001252715] | uncertain significance | 15 | 100574034 | 100574034 | Human | 2 | name |
| 40887101 | CV973932 | duplication | NM_001040616.3(LINS1):c.2020dup (p.Ser674fs) | Inborn genetic diseases [RCV001266525]|not provided [RCV004719123] | likely pathogenic | 15 | 100569491 | 100569492 | Human | 1 | name |
| 126725639 | CV1017868 | single nucleotide variant | NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser) | Intellectual disability, autosomal recessive 27 [RCV001331516] | uncertain significance | 15 | 100569480 | 100569480 | Human | 1 | name |
| 126743325 | CV1017870 | single nucleotide variant | NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr) | Inborn genetic diseases [RCV002462938]|Intellectual disability, autosomal recessive 27 [RCV001330175]|not provided [RCV004692529] | uncertain significance | 15 | 100570031 | 100570031 | Human | 2 | name |
| 126731305 | CV1021273 | single nucleotide variant | NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser) | Intellectual disability, autosomal recessive 27 [RCV001333680] | uncertain significance | 15 | 100569508 | 100569508 | Human | 1 | name |
| 126731296 | CV1021274 | single nucleotide variant | NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly) | Intellectual disability, autosomal recessive 27 [RCV001333678] | uncertain significance | 15 | 100569686 | 100569686 | Human | 1 | name |
| 126731292 | CV1021275 | single nucleotide variant | NM_001040616.3(LINS1):c.1487T>C (p.Leu496Ser) | Intellectual disability, autosomal recessive 27 [RCV001333677] | uncertain significance | 15 | 100570025 | 100570025 | Human | 1 | name |
| 126731283 | CV1021276 | single nucleotide variant | NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val) | Inborn genetic diseases [RCV002462941]|Intellectual disability, autosomal recessive 27 [RCV001333675] | uncertain significance | 15 | 100573860 | 100573860 | Human | 2 | name |
| 150494899 | CV1204911 | single nucleotide variant | NM_001040616.3(LINS1):c.1276C>T (p.Gln426Ter) | not provided [RCV001593403] | likely pathogenic | 15 | 100572012 | 100572012 | Human | | name |
| 151662403 | CV1333089 | single nucleotide variant | NM_001040616.3(LINS1):c.1909G>A (p.Val637Met) | Intellectual disability, autosomal recessive 27 [RCV001837322] | uncertain significance | 15 | 100569603 | 100569603 | Human | 1 | name |
| 8659945 | CV134929 | single nucleotide variant | NM_001040616.3(LINS1):c.1124C>T (p.Thr375Ile) | Inborn genetic diseases [RCV002460922]|LINS1-related disorder [RCV003905119]|not provided [RCV000904792]|not specified [RCV000117490] | likely benign|uncertain significance | 15 | 100573749 | 100573749 | Human | 2 | name , trait , alternate_id |
| 8659946 | CV134930 | single nucleotide variant | NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg) | Inborn genetic diseases [RCV002460923]|LINS1-related disorder [RCV003905120]|not provided [RCV000904791]|not specified [RCV000117491] | benign|likely benign|uncertain significance | 15 | 100569393 | 100569393 | Human | 2 | name , trait , alternate_id |
| 8657598 | CV134931 | single nucleotide variant | NM_001040616.3(LINS1):c.2236A>G (p.Ile746Val) | not provided [RCV000117492] | uncertain significance | 15 | 100569276 | 100569276 | Human | | name |
| 152977786 | CV1671145 | single nucleotide variant | NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter) | Intellectual disability, autosomal recessive 27 [RCV002226819] | likely pathogenic | 15 | 100570080 | 100570080 | Human | 1 | name |
| 155265369 | CV1704756 | single nucleotide variant | NM_001040616.3(LINS1):c.1529T>C (p.Leu510Pro) | Intellectual disability, autosomal recessive 27 [RCV002284982] | pathogenic|uncertain significance | 15 | 100569983 | 100569983 | Human | 1 | name |
| 155803985 | CV1856883 | single nucleotide variant | NM_001040616.3(LINS1):c.1568A>G (p.Tyr523Cys) | Inborn genetic diseases [RCV002463233] | uncertain significance | 15 | 100569944 | 100569944 | Human | 1 | name |
| 155803991 | CV1856890 | single nucleotide variant | NM_001040616.3(LINS1):c.2080G>T (p.Asp694Tyr) | Inborn genetic diseases [RCV002463240] | uncertain significance | 15 | 100569432 | 100569432 | Human | 1 | name |
| 155803994 | CV1856895 | single nucleotide variant | NM_001040616.3(LINS1):c.1534T>A (p.Phe512Ile) | Inborn genetic diseases [RCV002463245] | uncertain significance | 15 | 100569978 | 100569978 | Human | 1 | name |
| 155803998 | CV1856901 | single nucleotide variant | NM_001040616.3(LINS1):c.1007C>T (p.Ala336Val) | Inborn genetic diseases [RCV002463251] | uncertain significance | 15 | 100573866 | 100573866 | Human | 1 | name |
| 155804008 | CV1856912 | single nucleotide variant | NM_001040616.3(LINS1):c.1660A>G (p.Ile554Val) | Inborn genetic diseases [RCV002463262] | uncertain significance | 15 | 100569852 | 100569852 | Human | 1 | name |
| 155802110 | CV1857191 | single nucleotide variant | NM_001040616.3(LINS1):c.2173C>T (p.Arg725Cys) | Inborn genetic diseases [RCV002460548] | uncertain significance | 15 | 100569339 | 100569339 | Human | 1 | name |
| 155802367 | CV1857454 | single nucleotide variant | NM_001040616.3(LINS1):c.2008A>G (p.Lys670Glu) | Inborn genetic diseases [RCV002460811] | uncertain significance | 15 | 100569504 | 100569504 | Human | 1 | name |
| 155802618 | CV1857602 | single nucleotide variant | NM_001040616.3(LINS1):c.1007C>G (p.Ala336Gly) | Inborn genetic diseases [RCV002461459] | uncertain significance | 15 | 100573866 | 100573866 | Human | 1 | name |
| 155802626 | CV1857608 | single nucleotide variant | NM_001040616.3(LINS1):c.1133A>G (p.Asp378Gly) | Inborn genetic diseases [RCV002461465] | uncertain significance | 15 | 100573740 | 100573740 | Human | 1 | name |
| 155802664 | CV1857656 | single nucleotide variant | NM_001040616.3(LINS1):c.2183A>G (p.Lys728Arg) | Inborn genetic diseases [RCV002461513] | uncertain significance | 15 | 100569329 | 100569329 | Human | 1 | name |
| 155802668 | CV1857659 | single nucleotide variant | NM_001040616.3(LINS1):c.1505T>C (p.Ile502Thr) | Inborn genetic diseases [RCV002461517] | uncertain significance | 15 | 100570007 | 100570007 | Human | 1 | name |
| 155802687 | CV1857682 | single nucleotide variant | NM_001040616.3(LINS1):c.1173A>C (p.Lys391Asn) | Inborn genetic diseases [RCV002461540] | uncertain significance | 15 | 100573700 | 100573700 | Human | 1 | name |
| 155802704 | CV1857701 | single nucleotide variant | NM_001040616.3(LINS1):c.1353G>C (p.Glu451Asp) | Inborn genetic diseases [RCV002461559] | uncertain significance | 15 | 100571935 | 100571935 | Human | 1 | name |
| 155799708 | CV1862597 | single nucleotide variant | NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile) | Intellectual disability, autosomal recessive 27 [RCV002472004] | uncertain significance | 15 | 100569697 | 100569697 | Human | 1 | name |
| 10406696 | CV208147 | single nucleotide variant | NM_001040616.3(LINS1):c.1912G>A (p.Glu638Lys) | not specified [RCV000193742] | uncertain significance | 15 | 100569600 | 100569600 | Human | | name |
| 10403404 | CV208148 | single nucleotide variant | NM_001040616.3(LINS1):c.1813A>G (p.Met605Val) | Inborn genetic diseases [RCV002460974]|not provided [RCV000423169]|not specified [RCV000192437] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 100569699 | 100569699 | Human | 1 | name |
| 10403447 | CV208151 | single nucleotide variant | NM_001040616.3(LINS1):c.1347G>A (p.Met449Ile) | Inborn genetic diseases [RCV002460972]|not specified [RCV000192546] | uncertain significance | 15 | 100571941 | 100571941 | Human | 1 | name |
| 155912883 | CV2305164 | single nucleotide variant | NM_001040616.3(LINS1):c.1064T>G (p.Val355Gly) | Inborn genetic diseases [RCV002902877] | uncertain significance | 15 | 100573809 | 100573809 | Human | 1 | name |
| 156221994 | CV2392607 | single nucleotide variant | NM_001040616.3(LINS1):c.1301C>T (p.Pro434Leu) | Inborn genetic diseases [RCV002804793] | uncertain significance | 15 | 100571987 | 100571987 | Human | 1 | name |
| 243058614 | CV2413091 | single nucleotide variant | NM_001040616.3(LINS1):c.2090T>G (p.Val697Gly) | Intellectual disability, autosomal recessive 27 [RCV003134070] | uncertain significance | 15 | 100569422 | 100569422 | Human | 1 | name |
| 11582095 | CV264545 | single nucleotide variant | NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) | Intellectual disability, autosomal recessive 27 [RCV000502015]|not provided [RCV000397760] | pathogenic|likely pathogenic | 15 | 100573695 | 100573695 | Human | 1 | name |
| 401964052 | CV2844964 | single nucleotide variant | NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter) | Intellectual disability, autosomal recessive 27 [RCV003484528] | likely pathogenic | 15 | 100569907 | 100569907 | Human | 1 | name |
| 405704759 | CV3225142 | single nucleotide variant | NM_001040616.3(LINS1):c.2185A>T (p.Lys729Ter) | Intellectual disability, autosomal recessive 27 [RCV003990098] | likely pathogenic | 15 | 100569327 | 100569327 | Human | 1 | name |
| 408389667 | CV3518984 | single nucleotide variant | NM_001040616.3(LINS1):c.1861C>T (p.Arg621Trp) | not provided [RCV004762292] | uncertain significance | 15 | 100569651 | 100569651 | Human | | name |
| 408386882 | CV3524276 | single nucleotide variant | NM_001040616.3(LINS1):c.1351G>A (p.Glu451Lys) | not provided [RCV004768150] | uncertain significance | 15 | 100571937 | 100571937 | Human | | name |
| 596947852 | CV3547438 | single nucleotide variant | NM_001040616.3(LINS1):c.1586A>G (p.Lys529Arg) | not provided [RCV004811742] | uncertain significance | 15 | 100569926 | 100569926 | Human | | name |
| 598126006 | CV3881736 | single nucleotide variant | NM_001040616.3(LINS1):c.1223T>C (p.Val408Ala) | not provided [RCV005233287] | uncertain significance | 15 | 100572065 | 100572065 | Human | | name |
| 12913119 | CV421998 | single nucleotide variant | NM_001040616.3(LINS1):c.1096G>T (p.Glu366Ter) | not provided [RCV000493411] | pathogenic | 15 | 100573777 | 100573777 | Human | | name |
| 13518971 | CV486128 | single nucleotide variant | NM_001040616.3(LINS1):c.1298A>G (p.Asn433Ser) | Inborn genetic diseases [RCV002461374]|not provided [RCV000585267] | uncertain significance | 15 | 100571990 | 100571990 | Human | 1 | name |
| 13532916 | CV512111 | single nucleotide variant | NM_001040616.3(LINS1):c.1940G>A (p.Ser647Asn) | Inborn genetic diseases [RCV000624679]|not provided [RCV000883427] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 100569572 | 100569572 | Human | 1 | name |
| 13828272 | CV579916 | single nucleotide variant | NM_001040616.3(LINS1):c.2040G>T (p.Arg680Ser) | Inborn genetic diseases [RCV002462069]|not provided [RCV004715331] | benign | 15 | 100569472 | 100569472 | Human | 1 | name |
| 13828274 | CV579918 | single nucleotide variant | NM_001040616.3(LINS1):c.1923G>C (p.Glu641Asp) | Inborn genetic diseases [RCV002462071]|not provided [RCV001672928] | benign | 15 | 100569589 | 100569589 | Human | 1 | name |
| 13829978 | CV579956 | single nucleotide variant | NM_001040616.3(LINS1):c.1888G>A (p.Asp630Asn) | Inborn genetic diseases [RCV002462102] | uncertain significance | 15 | 100569624 | 100569624 | Human | 1 | name |
| 13830149 | CV579963 | single nucleotide variant | NM_001040616.3(LINS1):c.2027A>G (p.Glu676Gly) | Inborn genetic diseases [RCV002462107]|not provided [RCV000900851] | likely benign|uncertain significance | 15 | 100569485 | 100569485 | Human | 1 | name |
| 13828359 | CV579964 | single nucleotide variant | NM_001040616.3(LINS1):c.1621A>G (p.Ile541Val) | Inborn genetic diseases [RCV002462075]|not provided [RCV001675955] | benign | 15 | 100569891 | 100569891 | Human | 1 | name |
| 13829337 | CV579966 | single nucleotide variant | NM_001040616.3(LINS1):c.1981C>G (p.Gln661Glu) | Inborn genetic diseases [RCV002462088] | uncertain significance | 15 | 100569531 | 100569531 | Human | 1 | name |
| 13828277 | CV579971 | single nucleotide variant | NM_001040616.3(LINS1):c.1415G>C (p.Ser472Thr) | Inborn genetic diseases [RCV002462072]|not provided [RCV001644786] | benign | 15 | 100570097 | 100570097 | Human | 1 | name |
| 13829093 | CV579979 | single nucleotide variant | NM_001040616.3(LINS1):c.1222G>A (p.Val408Ile) | Inborn genetic diseases [RCV002462083] | uncertain significance | 15 | 100573651 | 100573651 | Human | 1 | name |
| 13829975 | CV579981 | single nucleotide variant | NM_001040616.3(LINS1):c.1121T>C (p.Ile374Thr) | Inborn genetic diseases [RCV002462099] | uncertain significance | 15 | 100573752 | 100573752 | Human | 1 | name |
| 13829607 | CV580194 | single nucleotide variant | NM_001040616.3(LINS1):c.2107G>A (p.Val703Ile) | Inborn genetic diseases [RCV002462093] | likely benign|uncertain significance | 15 | 100569405 | 100569405 | Human | 1 | name |
| 13829421 | CV580201 | single nucleotide variant | NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg) | Inborn genetic diseases [RCV002462090]|Intellectual disability, autosomal recessive 27 [RCV001333679]|not provided [RCV003392555] | likely benign|uncertain significance | 15 | 100569519 | 100569519 | Human | 2 | name |
| 13829445 | CV580215 | single nucleotide variant | NM_001040616.3(LINS1):c.1169T>C (p.Met390Thr) | Inborn genetic diseases [RCV002462091] | uncertain significance | 15 | 100573704 | 100573704 | Human | 1 | name |
| 28889197 | CV903601 | single nucleotide variant | NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter) | Inborn genetic diseases [RCV002462338]|Intellectual disability, autosomal recessive 27 [RCV001169846] | likely pathogenic|uncertain significance | 15 | 100569242 | 100569242 | Human | 2 | name |
| 13520850 | CV495324 | deletion | NM_001040616.3(LINS1):c.244_248del (p.Met82fs) | not provided [RCV000598974] | likely pathogenic | 15 | 100580595 | 100580599 | Human | | name |
| 126731314 | CV1021278 | duplication | NM_001040616.3(LINS1):c.681_682dup (p.Tyr228fs) | Mental retardation, autosomal recessive 27 [RCV001333683] | pathogenic | 15 | 100574190 | 100574191 | Human | | name |
| 598128580 | CV3887784 | deletion | NM_001040616.3(LINS1):c.982_985del (p.His328fs) | Intellectual disability, autosomal recessive 27 [RCV005255017]|not provided [RCV005243958] | pathogenic | 15 | 100573888 | 100573891 | Human | 1 | name |
| 243052645 | CV970505 | deletion | NM_001040616.3(LINS1):c.557_558del (p.Lys186fs) | Intellectual disability, autosomal recessive 27 [RCV003153967] | likely pathogenic | 15 | 100575060 | 100575061 | Human | 1 | name |
| 150528798 | CV1288502 | microsatellite | NM_001040616.3(LINS1):c.1525CTT[1] (p.Leu510del) | not provided [RCV001726970] | uncertain significance | 15 | 100569982 | 100569984 | Human | | name |
| 155642297 | CV1707316 | microsatellite | NM_001040616.3(LINS1):c.2223GTT[1] (p.Leu743del) | Intellectual disability, autosomal recessive 27 [RCV002288246] | uncertain significance | 15 | 100569284 | 100569286 | Human | | name |
| 155804021 | CV1856938 | microsatellite | NM_001040616.3(LINS1):c.1491CTT[1] (p.Phe498del) | Inborn genetic diseases [RCV002463288] | uncertain significance | 15 | 100570016 | 100570018 | Human | | name |
| 126743331 | CV1017869 | deletion | NM_001040616.3(LINS1):c.1754_1755del (p.Asp585fs) | Inborn genetic diseases [RCV002461515] | pathogenic|likely pathogenic | 15 | 100569757 | 100569758 | Human | 1 | name |
| 151347949 | CV1324373 | deletion | NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs) | Intellectual disability, autosomal recessive 27 [RCV001808290] | likely pathogenic | 15 | 100570087 | 100570088 | Human | 1 | name |
| 152979326 | CV1675968 | deletion | NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs) | Intellectual disability, autosomal recessive 27 [RCV002244556] | likely pathogenic | 15 | 100569776 | 100569785 | Human | 1 | name |
| 596946308 | CV3550573 | deletion | NM_001040616.3(LINS1):c.1672_1679del (p.Gly558fs) | not provided [RCV004819112] | pathogenic | 15 | 100569833 | 100569840 | Human | | name |
| 126731308 | CV1021279 | indel | NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln) | Intellectual disability, autosomal recessive 27 [RCV001333681] | uncertain significance | 15 | 100580537 | 100580538 | Human | | name |
| 243062462 | CV2404906 | indel | NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs) | Intellectual disability, autosomal recessive 27 [RCV003140455] | likely pathogenic | 15 | 100569589 | 100569591 | Human | | name |
| 401720261 | CV2737207 | indel | NM_001040616.3(LINS1):c.1186_1187delinsCC (p.Lys396Pro) | not provided [RCV003314146] | uncertain significance | 15 | 100573686 | 100573687 | Human | | name |
| 407513587 | CV3416491 | deletion | NM_001040616.3(LINS1):c.2134del (p.Arg711_Ile712insTer) | Intellectual disability, autosomal recessive 27 [RCV004674052] | likely pathogenic | 15 | 100569378 | 100569378 | Human | 1 | name |
| 40886415 | CV972794 | deletion | NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del) | Intellectual disability, autosomal recessive 27 [RCV001264803] | uncertain significance | 15 | 100574031 | 100574087 | Human | 1 | name |
| 8591068 | CV125790 | deletion | NM_001040616.3(LINS1):c.985_988del (p.His328_His329insTer) | Intellectual disability, autosomal recessive 27 [RCV000106305] | pathogenic | 15 | 100573885 | 100573888 | Human | 1 | name |
| 150528800 | CV1288503 | deletion | NM_001040616.3(LINS1):c.735_758del (p.Ile245_Leu253delinsMet) | not provided [RCV001726971] | uncertain significance | 15 | 100574115 | 100574138 | Human | | name |