| 596921757 | CV3535383 | single nucleotide variant | NM_001365925.2(NLGN1):c.493+5G>A | Autism, susceptibility to, 20 [RCV004784938] | uncertain significance | 3 | 173605096 | 173605096 | Human | 1 | name |
| 8578384 | CV112765 | single nucleotide variant | NM_014932.3(NLGN1):c.-320-5894A>G | Lung cancer [RCV000093288] | uncertain significance | 3 | 173598385 | 173598385 | Human | | name |
| 8578385 | CV112766 | single nucleotide variant | NM_014932.3(NLGN1):c.493+67316A>G | Lung cancer [RCV000093289] | uncertain significance | 3 | 173672407 | 173672407 | Human | | name |
| 8578386 | CV112767 | single nucleotide variant | NM_014932.3(NLGN1):c.493+95850C>T | Lung cancer [RCV000093290] | uncertain significance | 3 | 173700941 | 173700941 | Human | | name |
| 8578387 | CV112768 | single nucleotide variant | NM_014932.3(NLGN1):c.494-65167T>G | Lung cancer [RCV000093291] | uncertain significance | 3 | 173742513 | 173742513 | Human | | name |
| 8578388 | CV112769 | single nucleotide variant | NM_014932.3(NLGN1):c.494-48689A>T | Lung cancer [RCV000093292] | uncertain significance | 3 | 173758991 | 173758991 | Human | | name |
| 8578389 | CV112770 | single nucleotide variant | NM_014932.3(NLGN1):c.646+68110G>C | Lung cancer [RCV000093293] | uncertain significance | 3 | 173875942 | 173875942 | Human | | name |
| 405292463 | CV3196372 | single nucleotide variant | NM_001365925.2(NLGN1):c.1709+7A>G | NLGN1-related disorder [RCV003964523] | likely benign | 3 | 174279657 | 174279657 | Human | | name , trait , alternate_id |
| 8578378 | CV112759 | single nucleotide variant | NM_014932.3(NLGN1):c.-390+17580C>T | Lung cancer [RCV000093282] | uncertain significance | 3 | 173416067 | 173416067 | Human | | name |
| 8578379 | CV112760 | single nucleotide variant | NM_014932.3(NLGN1):c.-321+35723G>C | Lung cancer [RCV000093283] | uncertain significance | 3 | 173470801 | 173470801 | Human | | name |
| 8578380 | CV112761 | single nucleotide variant | NM_014932.3(NLGN1):c.-321+60973C>G | Lung cancer [RCV000093284] | uncertain significance | 3 | 173496051 | 173496051 | Human | | name |
| 8578381 | CV112762 | single nucleotide variant | NM_014932.3(NLGN1):c.-321+76754C>A | Lung cancer [RCV000093285] | uncertain significance | 3 | 173511832 | 173511832 | Human | | name |
| 8578382 | CV112763 | single nucleotide variant | NM_014932.3(NLGN1):c.-321+83003C>T | Lung cancer [RCV000093286] | uncertain significance | 3 | 173518081 | 173518081 | Human | | name |
| 8578383 | CV112764 | single nucleotide variant | NM_014932.3(NLGN1):c.-320-36082T>C | Lung cancer [RCV000093287] | uncertain significance | 3 | 173568197 | 173568197 | Human | | name |
| 8578390 | CV112771 | single nucleotide variant | NM_014932.3(NLGN1):c.646+143732G>C | Lung cancer [RCV000093294] | uncertain significance | 3 | 173951564 | 173951564 | Human | | name |
| 8578391 | CV112772 | single nucleotide variant | NM_014932.3(NLGN1):c.647-224205A>T | Lung cancer [RCV000093295] | uncertain significance | 3 | 174051110 | 174051110 | Human | | name |
| 8578392 | CV112773 | single nucleotide variant | NM_014932.3(NLGN1):c.647-170501T>A | Lung cancer [RCV000093296] | uncertain significance | 3 | 174104814 | 174104814 | Human | | name |
| 405281319 | CV3206783 | single nucleotide variant | NM_001365925.2(NLGN1):c.554-7382C>T | NLGN1-related disorder [RCV003907290] | likely benign | 3 | 173800298 | 173800298 | Human | | name , trait , alternate_id |
| 8625571 | CV80695 | single nucleotide variant | NM_014932.3(NLGN1):c.480C>T (p.Val160=) | Malignant melanoma [RCV000060772] | not provided | 3 | 173605078 | 173605078 | Human | | name |
| 404980805 | CV2850624 | single nucleotide variant | NM_001365925.2(NLGN1):c.19A>G (p.Thr7Ala) | not provided [RCV003488147] | uncertain significance | 3 | 173604617 | 173604617 | Human | | name |
| 405294046 | CV3203431 | single nucleotide variant | NM_001365925.2(NLGN1):c.111G>A (p.Leu37=) | NLGN1-related disorder [RCV003933970] | likely benign | 3 | 173604709 | 173604709 | Human | | name , trait , alternate_id |
| 10449962 | CV215275 | single nucleotide variant | NM_001365925.2(NLGN1):c.705C>T (p.Leu235=) | not specified [RCV000203186] | likely benign | 3 | 173807831 | 173807831 | Human | | name |
| 156172392 | CV2293334 | single nucleotide variant | NM_001365925.2(NLGN1):c.53C>A (p.Ala18Glu) | Inborn genetic diseases [RCV002891476] | uncertain significance | 3 | 173604651 | 173604651 | Human | 1 | name |
| 155904578 | CV2298827 | single nucleotide variant | NM_001365925.2(NLGN1):c.71G>A (p.Gly24Glu) | Inborn genetic diseases [RCV002901588] | uncertain significance | 3 | 173604669 | 173604669 | Human | 1 | name |
| 329361755 | CV2437802 | single nucleotide variant | NM_001365925.2(NLGN1):c.82C>G (p.Pro28Ala) | Inborn genetic diseases [RCV003180542] | likely benign | 3 | 173604680 | 173604680 | Human | 1 | name |
| 405275629 | CV3196422 | single nucleotide variant | NM_001365925.2(NLGN1):c.348G>A (p.Val116=) | NLGN1-related disorder [RCV003974258] | benign | 3 | 173604946 | 173604946 | Human | | name , trait , alternate_id |
| 405292575 | CV3196576 | single nucleotide variant | NM_001365925.2(NLGN1):c.483G>A (p.Pro161=) | NLGN1-related disorder [RCV003964573] | likely benign | 3 | 173605081 | 173605081 | Human | | name , trait , alternate_id |
| 407497565 | CV3458674 | single nucleotide variant | NM_001365925.2(NLGN1):c.68G>A (p.Arg23Gln) | Inborn genetic diseases [RCV004643780] | uncertain significance | 3 | 173604666 | 173604666 | Human | 1 | name |
| 598193922 | CV3994682 | single nucleotide variant | NM_001365925.2(NLGN1):c.67C>T (p.Arg23Trp) | Inborn genetic diseases [RCV005374639] | likely benign | 3 | 173604665 | 173604665 | Human | 1 | name |
| 15167915 | CV708689 | single nucleotide variant | NM_001365925.2(NLGN1):c.591G>A (p.Val197=) | not provided [RCV000971500] | benign | 3 | 173807717 | 173807717 | Human | | name |
| 28912263 | CV861122 | single nucleotide variant | NM_001365925.2(NLGN1):c.74T>A (p.Leu25Ter) | not provided [RCV001093630] | uncertain significance | 3 | 173604672 | 173604672 | Human | | name |
| 150510160 | CV1248541 | single nucleotide variant | NM_001365925.2(NLGN1):c.1422G>A (p.Lys474=) | NLGN1-related disorder [RCV003975875]|not provided [RCV001659610] | benign | 3 | 174279363 | 174279363 | Human | 1 | name , trait , alternate_id |
| 151350099 | CV1325523 | single nucleotide variant | NM_001365925.2(NLGN1):c.262C>T (p.Pro88Ser) | not provided [RCV001814809] | uncertain significance | 3 | 173604860 | 173604860 | Human | | name |
| 156238799 | CV2193665 | single nucleotide variant | NM_001365925.2(NLGN1):c.278G>A (p.Arg93His) | Autism, susceptibility to, 20 [RCV005399157]|Inborn genetic diseases [RCV002645431] | likely benign|uncertain significance | 3 | 173604876 | 173604876 | Human | 2 | name |
| 156338610 | CV2271295 | single nucleotide variant | NM_001365925.2(NLGN1):c.221T>G (p.Leu74Trp) | Inborn genetic diseases [RCV002836036] | uncertain significance | 3 | 173604819 | 173604819 | Human | 1 | name |
| 156203940 | CV2331566 | single nucleotide variant | NM_001365925.2(NLGN1):c.209A>G (p.Asn70Ser) | Inborn genetic diseases [RCV002931771] | uncertain significance | 3 | 173604807 | 173604807 | Human | 1 | name |
| 401740323 | CV2684328 | single nucleotide variant | NM_001365925.2(NLGN1):c.259G>T (p.Ala87Ser) | Inborn genetic diseases [RCV003240633] | uncertain significance | 3 | 173604857 | 173604857 | Human | 1 | name |
| 401745430 | CV2693254 | single nucleotide variant | NM_001365925.2(NLGN1):c.295G>C (p.Glu99Gln) | Inborn genetic diseases [RCV003241793] | uncertain significance | 3 | 173604893 | 173604893 | Human | 1 | name |
| 401719812 | CV2705528 | single nucleotide variant | NM_001365925.2(NLGN1):c.202G>C (p.Glu68Gln) | Inborn genetic diseases [RCV003266994] | likely benign | 3 | 173604800 | 173604800 | Human | 1 | name |
| 405292359 | CV3196290 | single nucleotide variant | NM_001365925.2(NLGN1):c.1047G>A (p.Glu349=) | NLGN1-related disorder [RCV003964506] | likely benign | 3 | 174278988 | 174278988 | Human | | name , trait , alternate_id |
| 405274870 | CV3199877 | single nucleotide variant | NM_001365925.2(NLGN1):c.2394C>T (p.Pro798=) | NLGN1-related disorder [RCV003973912] | benign | 3 | 174281165 | 174281165 | Human | | name , trait , alternate_id |
| 405293666 | CV3214414 | single nucleotide variant | NM_001365925.2(NLGN1):c.208A>G (p.Asn70Asp) | NLGN1-related disorder [RCV003932101] | uncertain significance | 3 | 173604806 | 173604806 | Human | | name , trait , alternate_id |
| 405707279 | CV3362323 | single nucleotide variant | NM_001365925.2(NLGN1):c.1479G>A (p.Ala493=) | Inborn genetic diseases [RCV004493311] | likely benign | 3 | 174279420 | 174279420 | Human | 1 | name |
| 407508933 | CV3458672 | single nucleotide variant | NM_001365925.2(NLGN1):c.247G>A (p.Val83Ile) | Inborn genetic diseases [RCV004647275] | likely benign | 3 | 173604845 | 173604845 | Human | 1 | name |
| 407508940 | CV3458676 | single nucleotide variant | NM_001365925.2(NLGN1):c.211A>T (p.Asn71Tyr) | Inborn genetic diseases [RCV004647278] | uncertain significance | 3 | 173604809 | 173604809 | Human | 1 | name |
| 15195302 | CV720306 | single nucleotide variant | NM_001365925.2(NLGN1):c.1002A>G (p.Arg334=) | NLGN1-related disorder [RCV003910544]|not provided [RCV000889465] | benign | 3 | 174278943 | 174278943 | Human | 1 | name , trait , alternate_id |
| 15099011 | CV720307 | single nucleotide variant | NM_001365925.2(NLGN1):c.2070G>A (p.Arg690=) | not provided [RCV000891862] | benign | 3 | 174280841 | 174280841 | Human | | name |
| 15124472 | CV733920 | single nucleotide variant | NM_001365925.2(NLGN1):c.1368T>C (p.Ile456=) | not provided [RCV000896596] | benign | 3 | 174279309 | 174279309 | Human | | name |
| 15163043 | CV733921 | single nucleotide variant | NM_001365925.2(NLGN1):c.2403T>C (p.Ile801=) | not provided [RCV000903686] | benign | 3 | 174281174 | 174281174 | Human | | name |
| 15179387 | CV763733 | single nucleotide variant | NM_001365925.2(NLGN1):c.1509G>T (p.Thr503=) | not provided [RCV000929626] | likely benign | 3 | 174279450 | 174279450 | Human | | name |
| 28912260 | CV861119 | single nucleotide variant | NM_001365925.2(NLGN1):c.266C>T (p.Pro89Leu) | Autism, susceptibility to, 20 [RCV001093627] | risk factor | 3 | 173604864 | 173604864 | Human | 1 | name |
| 39456974 | CV966239 | single nucleotide variant | NM_001365925.2(NLGN1):c.2532G>A (p.Ter844=) | Autism, susceptibility to, 20 [RCV004799426] | uncertain significance | 3 | 174281303 | 174281303 | Human | 1 | name |
| 152999870 | CV1683417 | single nucleotide variant | NM_001365925.2(NLGN1):c.298C>T (p.Pro100Ser) | See cases [RCV002252601] | uncertain significance | 3 | 173604896 | 173604896 | Human | | name |
| 156166548 | CV2200922 | single nucleotide variant | NM_001365925.2(NLGN1):c.973G>A (p.Val325Ile) | Inborn genetic diseases [RCV002664479]|NLGN1-related disorder [RCV003410146] | uncertain significance | 3 | 174278914 | 174278914 | Human | 2 | name , trait , alternate_id |
| 156283770 | CV2231038 | single nucleotide variant | NM_001365925.2(NLGN1):c.595A>G (p.Ile199Val) | Inborn genetic diseases [RCV002747269] | uncertain significance | 3 | 173807721 | 173807721 | Human | 1 | name |
| 156018684 | CV2233226 | single nucleotide variant | NM_001365925.2(NLGN1):c.559C>T (p.Arg187Trp) | Inborn genetic diseases [RCV002757112] | uncertain significance | 3 | 173807685 | 173807685 | Human | 1 | name |
| 156307407 | CV2312296 | single nucleotide variant | NM_001365925.2(NLGN1):c.763A>T (p.Ile255Leu) | Inborn genetic diseases [RCV002898509] | uncertain significance | 3 | 174275371 | 174275371 | Human | 1 | name |
| 243050405 | CV2403806 | deletion | NM_001365925.2(NLGN1):c.554-7372_554-7369del | See cases [RCV003128477] | uncertain significance | 3 | 173800307 | 173800310 | Human | | name |
| 329381653 | CV2471279 | single nucleotide variant | NM_001365925.2(NLGN1):c.443A>G (p.Asp148Gly) | Inborn genetic diseases [RCV003213126] | uncertain significance | 3 | 173605041 | 173605041 | Human | 1 | name |
| 401900065 | CV2780305 | single nucleotide variant | NM_001365925.2(NLGN1):c.307C>T (p.Pro103Ser) | Inborn genetic diseases [RCV003378414] | uncertain significance | 3 | 173604905 | 173604905 | Human | 1 | name |
| 401933627 | CV2799383 | single nucleotide variant | NM_001365925.2(NLGN1):c.835G>T (p.Gly279Ter) | NLGN1-related disorder [RCV003410501] | uncertain significance | 3 | 174275443 | 174275443 | Human | | name , trait , alternate_id |
| 401922984 | CV2825064 | single nucleotide variant | NM_001365925.2(NLGN1):c.706G>A (p.Gly236Ser) | not provided [RCV003434795] | uncertain significance | 3 | 173807832 | 173807832 | Human | | name |
| 405264514 | CV3190026 | single nucleotide variant | NM_001365925.2(NLGN1):c.989C>A (p.Ala330Glu) | NLGN1-related disorder [RCV003897065] | likely benign | 3 | 174278930 | 174278930 | Human | | name , trait , alternate_id |
| 405707342 | CV3358799 | single nucleotide variant | NM_001365925.2(NLGN1):c.688T>A (p.Tyr230Asn) | Inborn genetic diseases [RCV004493320] | uncertain significance | 3 | 173807814 | 173807814 | Human | 1 | name |
| 405707356 | CV3358801 | single nucleotide variant | NM_001365925.2(NLGN1):c.899G>A (p.Arg300His) | Inborn genetic diseases [RCV004493322] | uncertain significance | 3 | 174275507 | 174275507 | Human | 1 | name |
| 28912261 | CV861120 | single nucleotide variant | NM_001365925.2(NLGN1):c.866T>C (p.Leu289Pro) | Autism, susceptibility to, 20 [RCV001093628] | risk factor | 3 | 174275474 | 174275474 | Human | 1 | name |
| 28912262 | CV861121 | single nucleotide variant | NM_001365925.2(NLGN1):c.950G>A (p.Gly317Glu) | Autism, susceptibility to, 20 [RCV001093629] | risk factor | 3 | 174278891 | 174278891 | Human | 1 | name |
| 151852361 | CV1409251 | single nucleotide variant | NM_001365925.2(NLGN1):c.2080A>G (p.Thr694Ala) | not provided [RCV001937531] | uncertain significance | 3 | 174280851 | 174280851 | Human | | name |
| 156079414 | CV2198383 | single nucleotide variant | NM_001365925.2(NLGN1):c.2272A>G (p.Thr758Ala) | Inborn genetic diseases [RCV002660701] | uncertain significance | 3 | 174281043 | 174281043 | Human | 1 | name |
| 156228796 | CV2213094 | single nucleotide variant | NM_001365925.2(NLGN1):c.2032C>G (p.Pro678Ala) | Inborn genetic diseases [RCV002712618] | uncertain significance | 3 | 174280803 | 174280803 | Human | 1 | name |
| 156330956 | CV2224346 | single nucleotide variant | NM_001365925.2(NLGN1):c.2480C>T (p.Thr827Ile) | Inborn genetic diseases [RCV002717985] | uncertain significance | 3 | 174281251 | 174281251 | Human | 1 | name |
| 156133649 | CV2235437 | single nucleotide variant | NM_001365925.2(NLGN1):c.1261G>T (p.Asp421Tyr) | Inborn genetic diseases [RCV002763092] | uncertain significance | 3 | 174279202 | 174279202 | Human | 1 | name |
| 155970869 | CV2241581 | single nucleotide variant | NM_001365925.2(NLGN1):c.2444A>G (p.His815Arg) | Inborn genetic diseases [RCV002776827] | uncertain significance | 3 | 174281215 | 174281215 | Human | 1 | name |
| 156301198 | CV2307045 | single nucleotide variant | NM_001365925.2(NLGN1):c.1657G>A (p.Val553Met) | Inborn genetic diseases [RCV002897963] | uncertain significance | 3 | 174279598 | 174279598 | Human | 1 | name |
| 156034404 | CV2338675 | single nucleotide variant | NM_001365925.2(NLGN1):c.1265G>A (p.Ser422Asn) | Inborn genetic diseases [RCV002976754] | likely benign | 3 | 174279206 | 174279206 | Human | 1 | name |
| 156254352 | CV2358778 | single nucleotide variant | NM_001365925.2(NLGN1):c.1727T>A (p.Val576Asp) | Inborn genetic diseases [RCV003008553] | uncertain significance | 3 | 174280498 | 174280498 | Human | 1 | name |
| 401729504 | CV2683703 | single nucleotide variant | NM_001365925.2(NLGN1):c.2219A>G (p.Asn740Ser) | Inborn genetic diseases [RCV003247831] | uncertain significance | 3 | 174280990 | 174280990 | Human | 1 | name |
| 401765052 | CV2701780 | single nucleotide variant | NM_001365925.2(NLGN1):c.2206C>T (p.Arg736Cys) | Inborn genetic diseases [RCV003282117] | uncertain significance | 3 | 174280977 | 174280977 | Human | 1 | name |
| 401774860 | CV2713671 | single nucleotide variant | NM_001365925.2(NLGN1):c.1253A>G (p.Asn418Ser) | Inborn genetic diseases [RCV003262699] | uncertain significance | 3 | 174279194 | 174279194 | Human | 1 | name |
| 401859863 | CV2768372 | single nucleotide variant | NM_001365925.2(NLGN1):c.1028A>G (p.Asn343Ser) | Inborn genetic diseases [RCV003357253] | uncertain significance | 3 | 174278969 | 174278969 | Human | 1 | name |
| 401878366 | CV2774259 | single nucleotide variant | NM_001365925.2(NLGN1):c.1333T>C (p.Tyr445His) | Inborn genetic diseases [RCV003363878] | likely benign | 3 | 174279274 | 174279274 | Human | 1 | name |
| 401914528 | CV2799026 | single nucleotide variant | NM_001365925.2(NLGN1):c.2428G>A (p.Gly810Arg) | NLGN1-related disorder [RCV003400207] | uncertain significance | 3 | 174281199 | 174281199 | Human | | name , trait , alternate_id |
| 401922986 | CV2825065 | single nucleotide variant | NM_001365925.2(NLGN1):c.2524A>G (p.Arg842Gly) | not provided [RCV003434796] | uncertain significance | 3 | 174281295 | 174281295 | Human | | name |
| 404980795 | CV2850622 | single nucleotide variant | NM_001365925.2(NLGN1):c.2207G>T (p.Arg736Leu) | not provided [RCV003488145] | uncertain significance | 3 | 174280978 | 174280978 | Human | | name |
| 404980800 | CV2850623 | single nucleotide variant | NM_001365925.2(NLGN1):c.2024A>G (p.Gln675Arg) | not provided [RCV003488146] | uncertain significance | 3 | 174280795 | 174280795 | Human | | name |
| 405173499 | CV2853469 | single nucleotide variant | NM_001365925.2(NLGN1):c.1879T>G (p.Leu627Val) | not provided [RCV003542527] | uncertain significance | 3 | 174280650 | 174280650 | Human | | name |
| 405269485 | CV3201676 | single nucleotide variant | NM_001365925.2(NLGN1):c.1702A>G (p.Lys568Glu) | NLGN1-related disorder [RCV003899583] | uncertain significance | 3 | 174279643 | 174279643 | Human | | name , trait , alternate_id |
| 405712006 | CV3226087 | single nucleotide variant | NM_001365925.2(NLGN1):c.1634C>T (p.Pro545Leu) | Autism, susceptibility to, 20 [RCV003991078] | uncertain significance | 3 | 174279575 | 174279575 | Human | 1 | name |
| 405707272 | CV3362322 | single nucleotide variant | NM_001365925.2(NLGN1):c.1095A>C (p.Gln365His) | Inborn genetic diseases [RCV004493310] | uncertain significance | 3 | 174279036 | 174279036 | Human | 1 | name |
| 405707284 | CV3362324 | single nucleotide variant | NM_001365925.2(NLGN1):c.1528C>T (p.His510Tyr) | Inborn genetic diseases [RCV004493312] | uncertain significance | 3 | 174279469 | 174279469 | Human | 1 | name |
| 405707293 | CV3362325 | single nucleotide variant | NM_001365925.2(NLGN1):c.1529A>T (p.His510Leu) | Inborn genetic diseases [RCV004493313] | uncertain significance | 3 | 174279470 | 174279470 | Human | 1 | name |
| 405707299 | CV3362326 | single nucleotide variant | NM_001365925.2(NLGN1):c.1833A>T (p.Lys611Asn) | Inborn genetic diseases [RCV004493314] | uncertain significance | 3 | 174280604 | 174280604 | Human | 1 | name |
| 405707306 | CV3362327 | single nucleotide variant | NM_001365925.2(NLGN1):c.2223T>G (p.Asp741Glu) | Inborn genetic diseases [RCV004493315] | likely benign | 3 | 174280994 | 174280994 | Human | 1 | name |
| 405707313 | CV3362328 | single nucleotide variant | NM_001365925.2(NLGN1):c.2251A>G (p.Met751Val) | Inborn genetic diseases [RCV004493316] | uncertain significance | 3 | 174281022 | 174281022 | Human | 1 | name |
| 405707320 | CV3362329 | single nucleotide variant | NM_001365925.2(NLGN1):c.2329G>A (p.Ala777Thr) | Inborn genetic diseases [RCV004493317] | likely benign | 3 | 174281100 | 174281100 | Human | 1 | name |
| 405707327 | CV3362330 | single nucleotide variant | NM_001365925.2(NLGN1):c.2497C>T (p.Pro833Ser) | Inborn genetic diseases [RCV004493318] | likely benign | 3 | 174281268 | 174281268 | Human | 1 | name |
| 407508936 | CV3458673 | single nucleotide variant | NM_001365925.2(NLGN1):c.2000C>A (p.Thr667Lys) | Inborn genetic diseases [RCV004647276] | likely benign | 3 | 174280771 | 174280771 | Human | 1 | name |
| 407508939 | CV3458675 | single nucleotide variant | NM_001365925.2(NLGN1):c.1951T>G (p.Ser651Ala) | Inborn genetic diseases [RCV004647277] | uncertain significance | 3 | 174280722 | 174280722 | Human | 1 | name |
| 597723563 | CV3556401 | single nucleotide variant | NM_001365925.2(NLGN1):c.1550T>C (p.Val517Ala) | Inborn genetic diseases [RCV004961804] | likely benign | 3 | 174279491 | 174279491 | Human | 1 | name |
| 597723572 | CV3556402 | single nucleotide variant | NM_001365925.2(NLGN1):c.1763A>G (p.Asn588Ser) | Inborn genetic diseases [RCV004961805] | uncertain significance | 3 | 174280534 | 174280534 | Human | 1 | name |
| 597723579 | CV3556403 | single nucleotide variant | NM_001365925.2(NLGN1):c.2494C>A (p.His832Asn) | Inborn genetic diseases [RCV004961806] | uncertain significance | 3 | 174281265 | 174281265 | Human | 1 | name |
| 597723588 | CV3556404 | single nucleotide variant | NM_001365925.2(NLGN1):c.1270G>A (p.Asp424Asn) | Inborn genetic diseases [RCV004961807] | uncertain significance | 3 | 174279211 | 174279211 | Human | 1 | name |
| 597723593 | CV3556405 | single nucleotide variant | NM_001365925.2(NLGN1):c.1076A>G (p.Tyr359Cys) | Inborn genetic diseases [RCV004961808] | uncertain significance | 3 | 174279017 | 174279017 | Human | 1 | name |
| 597723604 | CV3556407 | single nucleotide variant | NM_001365925.2(NLGN1):c.2401A>G (p.Ile801Val) | Inborn genetic diseases [RCV004961809] | uncertain significance | 3 | 174281172 | 174281172 | Human | 1 | name |
| 597723614 | CV3556408 | single nucleotide variant | NM_001365925.2(NLGN1):c.2110G>A (p.Ala704Thr) | Inborn genetic diseases [RCV004961810] | uncertain significance | 3 | 174280881 | 174280881 | Human | 1 | name |
| 597723624 | CV3556409 | single nucleotide variant | NM_001365925.2(NLGN1):c.1064A>G (p.Gln355Arg) | Inborn genetic diseases [RCV004961811] | uncertain significance | 3 | 174279005 | 174279005 | Human | 1 | name |
| 597974541 | CV3802239 | single nucleotide variant | NM_001365925.2(NLGN1):c.2333G>T (p.Cys778Phe) | not provided [RCV005144015] | uncertain significance | 3 | 174281104 | 174281104 | Human | | name |
| 597862816 | CV3860608 | single nucleotide variant | NM_001365925.2(NLGN1):c.1536C>A (p.Cys512Ter) | not provided [RCV005196136] | uncertain significance | 3 | 174279477 | 174279477 | Human | | name |
| 598193927 | CV3994683 | single nucleotide variant | NM_001365925.2(NLGN1):c.1930T>G (p.Ser644Ala) | Inborn genetic diseases [RCV005374640] | likely benign | 3 | 174280701 | 174280701 | Human | 1 | name |
| 408365655 | CV3508987 | duplication | NM_001365925.2(NLGN1):c.777_779dup (p.Trp260Ter) | NLGN1-related disorder [RCV004755182] | uncertain significance | 3 | 174275383 | 174275384 | Human | | name , trait , alternate_id |
