| 150482910 | CV1261696 | single nucleotide variant | NM_001037132.4(NRCAM):c.1631-9A>G | not provided [RCV001686300] | benign | 7 | 108194180 | 108194180 | Human | | name |
| 151662676 | CV1320666 | single nucleotide variant | NM_001037132.4(NRCAM):c.2647-2A>G | NRCAM-related disorder [RCV001824183] | pathogenic | 7 | 108180429 | 108180429 | Human | | name , trait |
| 405272481 | CV3210087 | single nucleotide variant | NM_001037132.4(NRCAM):c.1075+4T>C | NRCAM-related disorder [RCV004539464] | benign | 7 | 108209417 | 108209417 | Human | | name , trait |
| 405283848 | CV3213429 | single nucleotide variant | NM_001037132.4(NRCAM):c.2036-8G>A | NRCAM-related disorder [RCV004539443] | likely benign | 7 | 108184622 | 108184622 | Human | | name , trait |
| 15103650 | CV759707 | single nucleotide variant | NM_001037132.4(NRCAM):c.3598+8A>G | not provided [RCV000915204] | likely benign | 7 | 108160353 | 108160353 | Human | | name |
| 150437662 | CV1249908 | single nucleotide variant | NM_001037132.4(NRCAM):c.2531-15C>T | not provided [RCV001665822] | benign | 7 | 108181952 | 108181952 | Human | | name |
| 151662684 | CV1320670 | single nucleotide variant | NM_001037132.4(NRCAM):c.230+824G>C | NRCAM-related disorder [RCV001824187] | likely pathogenic | 7 | 108233759 | 108233759 | Human | | name , trait |
| 405257804 | CV3207886 | microsatellite | NM_001037132.4(NRCAM):c.2036-21GT[5] | NRCAM-related disorder [RCV004532126] | likely benign | 7 | 108184624 | 108184625 | Human | | name , trait |
| 405708208 | CV3362635 | single nucleotide variant | NM_001037132.4(NRCAM):c.11A>C (p.Lys4Thr) | Inborn genetic diseases [RCV004493450] | uncertain significance | 7 | 108240054 | 108240054 | Human | 1 | name |
| 597689671 | CV3576770 | single nucleotide variant | NM_001037132.4(NRCAM):c.25A>G (p.Lys9Glu) | Inborn genetic diseases [RCV004954004] | uncertain significance | 7 | 108240040 | 108240040 | Human | 1 | name |
| 156362928 | CV2330448 | single nucleotide variant | NM_001037132.4(NRCAM):c.41C>T (p.Ala14Val) | Inborn genetic diseases [RCV002941620] | uncertain significance | 7 | 108240024 | 108240024 | Human | 1 | name |
| 156056646 | CV2371107 | single nucleotide variant | NM_001037132.4(NRCAM):c.36A>C (p.Leu12Phe) | Inborn genetic diseases [RCV002693164] | uncertain significance | 7 | 108240029 | 108240029 | Human | 1 | name |
| 155962739 | CV2388289 | single nucleotide variant | NM_001037132.4(NRCAM):c.31C>T (p.Arg11Cys) | Inborn genetic diseases [RCV002754161] | likely benign | 7 | 108240034 | 108240034 | Human | 1 | name |
| 407476876 | CV3465857 | single nucleotide variant | NM_001037132.4(NRCAM):c.88C>G (p.Leu30Val) | Inborn genetic diseases [RCV004638690] | uncertain significance | 7 | 108239977 | 108239977 | Human | 1 | name |
| 150459534 | CV1268357 | single nucleotide variant | NM_001037132.4(NRCAM):c.1602G>A (p.Ala534=) | not provided [RCV001693354] | benign | 7 | 108194290 | 108194290 | Human | | name |
| 151662681 | CV1320669 | single nucleotide variant | NM_001037132.4(NRCAM):c.164A>G (p.Asp55Gly) | NRCAM-related disorder [RCV001824186] | pathogenic | 7 | 108234649 | 108234649 | Human | | name , trait |
| 329355090 | CV2477456 | deletion | NM_001037132.4(NRCAM):c.26_29del (p.Lys9fs) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV003221778] | likely pathogenic | 7 | 108240036 | 108240039 | Human | 1 | name |
| 401897676 | CV2772759 | single nucleotide variant | NM_001037132.4(NRCAM):c.221C>T (p.Pro74Leu) | Inborn genetic diseases [RCV003375846]|NRCAM-related disorder [RCV004529629] | uncertain significance | 7 | 108234592 | 108234592 | Human | 2 | name , trait |
| 401908988 | CV2823113 | single nucleotide variant | NM_001037132.4(NRCAM):c.106C>A (p.Pro36Thr) | not provided [RCV003423749] | uncertain significance | 7 | 108239959 | 108239959 | Human | | name |
| 405286338 | CV3192099 | single nucleotide variant | NM_001037132.4(NRCAM):c.2997C>T (p.Gly999=) | NRCAM-related disorder [RCV004539513] | likely benign | 7 | 108176584 | 108176584 | Human | | name , trait |
| 405262287 | CV3194436 | single nucleotide variant | NM_001037132.4(NRCAM):c.2043C>A (p.Ile681=) | NRCAM-related disorder [RCV004539252] | likely benign | 7 | 108184607 | 108184607 | Human | | name , trait |
| 405255804 | CV3211319 | single nucleotide variant | NM_001037132.4(NRCAM):c.2925G>A (p.Pro975=) | NRCAM-related disorder [RCV004532225] | likely benign | 7 | 108178039 | 108178039 | Human | | name , trait |
| 405270521 | CV3211499 | single nucleotide variant | NM_001037132.4(NRCAM):c.1770T>C (p.Ser590=) | NRCAM-related disorder [RCV004542340] | likely benign | 7 | 108194032 | 108194032 | Human | | name , trait |
| 405708293 | CV3362647 | single nucleotide variant | NM_001037132.4(NRCAM):c.274G>A (p.Asp92Asn) | Inborn genetic diseases [RCV004493462] | uncertain significance | 7 | 108232479 | 108232479 | Human | 1 | name |
| 405708300 | CV3362648 | single nucleotide variant | NM_001037132.4(NRCAM):c.278C>T (p.Pro93Leu) | Inborn genetic diseases [RCV004493463] | uncertain significance | 7 | 108232475 | 108232475 | Human | 1 | name |
| 597689526 | CV3566808 | single nucleotide variant | NM_001037132.4(NRCAM):c.244C>T (p.Arg82Cys) | Inborn genetic diseases [RCV004953988] | uncertain significance | 7 | 108232509 | 108232509 | Human | 1 | name |
| 15165620 | CV710706 | single nucleotide variant | NM_001037132.4(NRCAM):c.1147A>C (p.Arg383=) | NRCAM-related disorder [RCV004535959]|not provided [RCV000970990] | benign | 7 | 108207588 | 108207588 | Human | 1 | name , trait |
| 15150947 | CV750344 | single nucleotide variant | NM_001037132.4(NRCAM):c.2289G>A (p.Leu763=) | NRCAM-related disorder [RCV004533558]|not provided [RCV000923572] | likely benign | 7 | 108184256 | 108184256 | Human | 1 | name , trait |
| 151662677 | CV1320667 | single nucleotide variant | NM_001037132.4(NRCAM):c.400T>C (p.Ser134Pro) | NRCAM-related disorder [RCV001824184]|not provided [RCV002246517] | pathogenic|uncertain significance | 7 | 108232353 | 108232353 | Human | 1 | name , trait |
| 151662679 | CV1320668 | single nucleotide variant | NM_001037132.4(NRCAM):c.331G>T (p.Glu111Ter) | NRCAM-related disorder [RCV001824185]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV002246518] | pathogenic | 7 | 108232422 | 108232422 | Human | 1 | name , trait |
| 151662696 | CV1320675 | single nucleotide variant | NM_001037132.4(NRCAM):c.590G>A (p.Gly197Asp) | NRCAM-related disorder [RCV001824192]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV002246521] | pathogenic | 7 | 108226339 | 108226339 | Human | 1 | name , trait |
| 156244198 | CV2207236 | single nucleotide variant | NM_001037132.4(NRCAM):c.671A>T (p.His224Leu) | Inborn genetic diseases [RCV002702034] | uncertain significance | 7 | 108226258 | 108226258 | Human | 1 | name |
| 401783822 | CV2720467 | single nucleotide variant | NM_001037132.4(NRCAM):c.313A>G (p.Ile105Val) | Inborn genetic diseases [RCV003309969] | uncertain significance | 7 | 108232440 | 108232440 | Human | 1 | name |
| 401762512 | CV2723472 | single nucleotide variant | NM_001037132.4(NRCAM):c.644A>T (p.Asp215Val) | Inborn genetic diseases [RCV003300228] | uncertain significance | 7 | 108226285 | 108226285 | Human | 1 | name |
| 401862702 | CV2762356 | single nucleotide variant | NM_001037132.4(NRCAM):c.979A>C (p.Ile327Leu) | Inborn genetic diseases [RCV003358619] | uncertain significance | 7 | 108209517 | 108209517 | Human | 1 | name |
| 404998869 | CV2850637 | single nucleotide variant | NM_001037132.4(NRCAM):c.638G>A (p.Arg213His) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV003493109] | uncertain significance | 7 | 108226291 | 108226291 | Human | 1 | name |
| 404998881 | CV2850639 | single nucleotide variant | NM_001037132.4(NRCAM):c.362A>T (p.Tyr121Phe) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV003493111] | uncertain significance | 7 | 108232391 | 108232391 | Human | 1 | name |
| 405708315 | CV3362650 | single nucleotide variant | NM_001037132.4(NRCAM):c.331G>C (p.Glu111Gln) | Inborn genetic diseases [RCV004493465] | uncertain significance | 7 | 108232422 | 108232422 | Human | 1 | name |
| 405708343 | CV3362654 | single nucleotide variant | NM_001037132.4(NRCAM):c.505C>T (p.Pro169Ser) | Inborn genetic diseases [RCV004493469] | uncertain significance | 7 | 108231076 | 108231076 | Human | 1 | name |
| 405708352 | CV3362655 | single nucleotide variant | NM_001037132.4(NRCAM):c.569A>G (p.Gln190Arg) | Inborn genetic diseases [RCV004493470] | uncertain significance | 7 | 108226360 | 108226360 | Human | 1 | name |
| 405708357 | CV3362656 | single nucleotide variant | NM_001037132.4(NRCAM):c.586C>G (p.Gln196Glu) | Inborn genetic diseases [RCV004493471] | uncertain significance | 7 | 108226343 | 108226343 | Human | 1 | name |
| 405708366 | CV3362657 | single nucleotide variant | NM_001037132.4(NRCAM):c.605T>G (p.Leu202Arg) | Inborn genetic diseases [RCV004493472] | uncertain significance | 7 | 108226324 | 108226324 | Human | 1 | name |
| 405708372 | CV3362658 | single nucleotide variant | NM_001037132.4(NRCAM):c.640G>A (p.Glu214Lys) | Inborn genetic diseases [RCV004493473] | uncertain significance | 7 | 108226289 | 108226289 | Human | 1 | name |
| 405708379 | CV3362659 | single nucleotide variant | NM_001037132.4(NRCAM):c.686A>T (p.Gln229Leu) | Inborn genetic diseases [RCV004493474] | uncertain significance | 7 | 108226243 | 108226243 | Human | 1 | name |
| 407516839 | CV3465859 | single nucleotide variant | NM_001037132.4(NRCAM):c.529A>G (p.Ile177Val) | Inborn genetic diseases [RCV004650423] | uncertain significance | 7 | 108231052 | 108231052 | Human | 1 | name |
| 597689561 | CV3566812 | single nucleotide variant | NM_001037132.4(NRCAM):c.320A>T (p.Asn107Ile) | Inborn genetic diseases [RCV004953992] | uncertain significance | 7 | 108232433 | 108232433 | Human | 1 | name |
| 597689569 | CV3566813 | single nucleotide variant | NM_001037132.4(NRCAM):c.376A>G (p.Arg126Gly) | Inborn genetic diseases [RCV004953993] | uncertain significance | 7 | 108232377 | 108232377 | Human | 1 | name |
| 597689618 | CV3576764 | single nucleotide variant | NM_001037132.4(NRCAM):c.898C>G (p.Pro300Ala) | Inborn genetic diseases [RCV004953998] | uncertain significance | 7 | 108209598 | 108209598 | Human | 1 | name |
| 597689629 | CV3576765 | single nucleotide variant | NM_001037132.4(NRCAM):c.788G>A (p.Ser263Asn) | Inborn genetic diseases [RCV004953999] | uncertain significance | 7 | 108223827 | 108223827 | Human | 1 | name |
| 597689654 | CV3576768 | single nucleotide variant | NM_001037132.4(NRCAM):c.743T>C (p.Ile248Thr) | Inborn genetic diseases [RCV004954002] | uncertain significance | 7 | 108225680 | 108225680 | Human | 1 | name |
| 598264618 | CV3998046 | single nucleotide variant | NM_001037132.4(NRCAM):c.986A>G (p.His329Arg) | Inborn genetic diseases [RCV005387794] | uncertain significance | 7 | 108209510 | 108209510 | Human | 1 | name |
| 598264626 | CV3998049 | single nucleotide variant | NM_001037132.4(NRCAM):c.320A>G (p.Asn107Ser) | Inborn genetic diseases [RCV005387796] | uncertain significance | 7 | 108232433 | 108232433 | Human | 1 | name |
| 598264634 | CV3998051 | single nucleotide variant | NM_001037132.4(NRCAM):c.677A>T (p.Gln226Leu) | Inborn genetic diseases [RCV005387798] | uncertain significance | 7 | 108226252 | 108226252 | Human | 1 | name |
| 598220061 | CV3998055 | single nucleotide variant | NM_001037132.4(NRCAM):c.571A>G (p.Ser191Gly) | Inborn genetic diseases [RCV005379447] | uncertain significance | 7 | 108226358 | 108226358 | Human | 1 | name |
| 598220067 | CV3998056 | single nucleotide variant | NM_001037132.4(NRCAM):c.742A>G (p.Ile248Val) | Inborn genetic diseases [RCV005379448] | uncertain significance | 7 | 108225681 | 108225681 | Human | 1 | name |
| 15184642 | CV710704 | single nucleotide variant | NM_001037132.4(NRCAM):c.3744A>G (p.Lys1248=) | not provided [RCV000975163] | benign | 7 | 108150081 | 108150081 | Human | | name |
| 15193625 | CV750343 | single nucleotide variant | NM_001037132.4(NRCAM):c.3606A>G (p.Glu1202=) | not provided [RCV000910893] | likely benign | 7 | 108159534 | 108159534 | Human | | name |
| 150493122 | CV1238607 | single nucleotide variant | NM_001037132.4(NRCAM):c.1633C>G (p.Pro545Ala) | not provided [RCV001655151] | benign | 7 | 108194169 | 108194169 | Human | | name |
| 151662672 | CV1320664 | single nucleotide variant | NM_001037132.4(NRCAM):c.2785C>T (p.Arg929Ter) | NRCAM-related disorder [RCV001824181]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV002246516] | pathogenic | 7 | 108180289 | 108180289 | Human | 1 | name , trait |
| 151662687 | CV1320671 | single nucleotide variant | NM_001037132.4(NRCAM):c.2557C>T (p.Arg853Cys) | Inborn genetic diseases [RCV003163938]|NRCAM-related disorder [RCV001824188] | pathogenic|uncertain significance | 7 | 108181911 | 108181911 | Human | 2 | name , trait |
| 151662690 | CV1320672 | single nucleotide variant | NM_001037132.4(NRCAM):c.2705A>C (p.Lys902Thr) | Inborn genetic diseases [RCV002541338]|NRCAM-related disorder [RCV001824189]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV005397023] | pathogenic|uncertain significance | 7 | 108180369 | 108180369 | Human | 2 | name , trait |
| 151662692 | CV1320673 | single nucleotide variant | NM_001037132.4(NRCAM):c.1406A>G (p.Asn469Ser) | NRCAM-related disorder [RCV001824190]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV002246519] | pathogenic | 7 | 108195818 | 108195818 | Human | 1 | name , trait |
| 151662694 | CV1320674 | single nucleotide variant | NM_001037132.4(NRCAM):c.2738G>A (p.Gly913Asp) | NRCAM-related disorder [RCV001824191]|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV002246520] | pathogenic | 7 | 108180336 | 108180336 | Human | 1 | name , trait |
| 156387979 | CV2221678 | single nucleotide variant | NM_001037132.4(NRCAM):c.2053G>A (p.Glu685Lys) | Inborn genetic diseases [RCV002724011] | uncertain significance | 7 | 108184597 | 108184597 | Human | 1 | name |
| 156389081 | CV2229905 | single nucleotide variant | NM_001037132.4(NRCAM):c.1453A>G (p.Thr485Ala) | Inborn genetic diseases [RCV002724273] | uncertain significance | 7 | 108195771 | 108195771 | Human | 1 | name |
| 156082042 | CV2244365 | single nucleotide variant | NM_001037132.4(NRCAM):c.2745G>T (p.Leu915Phe) | Inborn genetic diseases [RCV002737972] | uncertain significance | 7 | 108180329 | 108180329 | Human | 1 | name |
| 156153562 | CV2266006 | single nucleotide variant | NM_001037132.4(NRCAM):c.2297C>T (p.Thr766Met) | Inborn genetic diseases [RCV002826930] | uncertain significance | 7 | 108184248 | 108184248 | Human | 1 | name |
| 156019250 | CV2272564 | single nucleotide variant | NM_001037132.4(NRCAM):c.1576G>T (p.Val526Phe) | Inborn genetic diseases [RCV002844466] | uncertain significance | 7 | 108194316 | 108194316 | Human | 1 | name |
| 156175447 | CV2278206 | single nucleotide variant | NM_001037132.4(NRCAM):c.2645G>A (p.Arg882Gln) | Inborn genetic diseases [RCV002873349] | uncertain significance | 7 | 108181823 | 108181823 | Human | 1 | name |
| 156264452 | CV2282662 | single nucleotide variant | NM_001037132.4(NRCAM):c.2177G>A (p.Ser726Asn) | Inborn genetic diseases [RCV002831918] | uncertain significance | 7 | 108184473 | 108184473 | Human | 1 | name |
| 156036454 | CV2283068 | single nucleotide variant | NM_001037132.4(NRCAM):c.2867C>T (p.Ser956Leu) | Inborn genetic diseases [RCV002845762] | uncertain significance | 7 | 108178097 | 108178097 | Human | 1 | name |
| 155961382 | CV2285523 | single nucleotide variant | NM_001037132.4(NRCAM):c.2125C>A (p.Leu709Met) | Inborn genetic diseases [RCV002841354] | uncertain significance | 7 | 108184525 | 108184525 | Human | 1 | name |
| 155993182 | CV2286277 | single nucleotide variant | NM_001037132.4(NRCAM):c.1530G>C (p.Leu510Phe) | Inborn genetic diseases [RCV002864687] | uncertain significance | 7 | 108194362 | 108194362 | Human | 1 | name |
| 156163895 | CV2319668 | single nucleotide variant | NM_001037132.4(NRCAM):c.1312T>C (p.Tyr438His) | Inborn genetic diseases [RCV002955437] | uncertain significance | 7 | 108197995 | 108197995 | Human | 1 | name |
| 156191991 | CV2325670 | single nucleotide variant | NM_001037132.4(NRCAM):c.2902C>T (p.Leu968Phe) | Inborn genetic diseases [RCV002931042] | uncertain significance | 7 | 108178062 | 108178062 | Human | 1 | name |
| 156234338 | CV2346269 | single nucleotide variant | NM_001037132.4(NRCAM):c.1856A>G (p.Asn619Ser) | Inborn genetic diseases [RCV002986970] | uncertain significance | 7 | 108191776 | 108191776 | Human | 1 | name |
| 156281602 | CV2348791 | single nucleotide variant | NM_001037132.4(NRCAM):c.2995G>A (p.Gly999Ser) | Inborn genetic diseases [RCV002989416] | uncertain significance | 7 | 108176586 | 108176586 | Human | 1 | name |
| 155928927 | CV2356578 | single nucleotide variant | NM_001037132.4(NRCAM):c.2795A>G (p.Asn932Ser) | Inborn genetic diseases [RCV002970428] | uncertain significance | 7 | 108180279 | 108180279 | Human | 1 | name |
| 156167444 | CV2373685 | single nucleotide variant | NM_001037132.4(NRCAM):c.1480G>A (p.Gly494Arg) | Inborn genetic diseases [RCV002698628] | uncertain significance | 7 | 108194412 | 108194412 | Human | 1 | name |
| 156171280 | CV2400663 | single nucleotide variant | NM_001037132.4(NRCAM):c.2558G>A (p.Arg853His) | Inborn genetic diseases [RCV002765302] | likely benign | 7 | 108181910 | 108181910 | Human | 1 | name |
| 329372837 | CV2434034 | single nucleotide variant | NM_001037132.4(NRCAM):c.2561T>C (p.Val854Ala) | Inborn genetic diseases [RCV003172897] | uncertain significance | 7 | 108181907 | 108181907 | Human | 1 | name |
| 401774610 | CV2713567 | single nucleotide variant | NM_001037132.4(NRCAM):c.1844C>T (p.Thr615Met) | Inborn genetic diseases [RCV003262613] | uncertain significance | 7 | 108191788 | 108191788 | Human | 1 | name |
| 401782688 | CV2719939 | single nucleotide variant | NM_001037132.4(NRCAM):c.1079C>T (p.Ala360Val) | Inborn genetic diseases [RCV003309120] | uncertain significance | 7 | 108207656 | 108207656 | Human | 1 | name |
| 401890900 | CV2768798 | single nucleotide variant | NM_001037132.4(NRCAM):c.2519C>T (p.Ser840Phe) | Inborn genetic diseases [RCV003369171] | uncertain significance | 7 | 108182706 | 108182706 | Human | 1 | name |
| 401870243 | CV2772659 | single nucleotide variant | NM_001037132.4(NRCAM):c.2609C>G (p.Pro870Arg) | Inborn genetic diseases [RCV003346056] | uncertain significance | 7 | 108181859 | 108181859 | Human | 1 | name |
| 401864554 | CV2781844 | single nucleotide variant | NM_001037132.4(NRCAM):c.1459G>A (p.Glu487Lys) | Inborn genetic diseases [RCV003379048] | uncertain significance | 7 | 108195765 | 108195765 | Human | 1 | name |
| 401908986 | CV2823112 | single nucleotide variant | NM_001037132.4(NRCAM):c.2201A>T (p.Glu734Val) | not provided [RCV003423748] | uncertain significance | 7 | 108184449 | 108184449 | Human | | name |
| 404998875 | CV2850638 | single nucleotide variant | NM_001037132.4(NRCAM):c.2536A>G (p.Met846Val) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV003493110] | uncertain significance | 7 | 108181932 | 108181932 | Human | 1 | name |
| 404998887 | CV2850640 | single nucleotide variant | NM_001037132.4(NRCAM):c.2581T>G (p.Leu861Val) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV003493112] | uncertain significance | 7 | 108181887 | 108181887 | Human | 1 | name |
| 405274318 | CV3195081 | single nucleotide variant | NM_001037132.4(NRCAM):c.2572A>G (p.Asn858Asp) | NRCAM-related disorder [RCV004534624] | likely benign | 7 | 108181896 | 108181896 | Human | | name , trait |
| 405272246 | CV3206559 | single nucleotide variant | NM_001037132.4(NRCAM):c.1484G>A (p.Ser495Asn) | NRCAM-related disorder [RCV004540859] | benign | 7 | 108194408 | 108194408 | Human | | name , trait |
| 405255859 | CV3208373 | single nucleotide variant | NM_001037132.4(NRCAM):c.1357C>G (p.Pro453Ala) | NRCAM-related disorder [RCV004532230] | likely benign | 7 | 108195867 | 108195867 | Human | | name , trait |
| 405293320 | CV3221410 | single nucleotide variant | NM_001037132.4(NRCAM):c.2032A>G (p.Thr678Ala) | NRCAM-related disorder [RCV004545716] | likely benign | 7 | 108189648 | 108189648 | Human | | name , trait |
| 405708192 | CV3362633 | single nucleotide variant | NM_001037132.4(NRCAM):c.1058T>C (p.Ile353Thr) | Inborn genetic diseases [RCV004493448] | uncertain significance | 7 | 108209438 | 108209438 | Human | 1 | name |
| 405708201 | CV3362634 | single nucleotide variant | NM_001037132.4(NRCAM):c.1076C>T (p.Ala359Val) | Inborn genetic diseases [RCV004493449] | uncertain significance | 7 | 108207659 | 108207659 | Human | 1 | name |
| 405708214 | CV3362636 | single nucleotide variant | NM_001037132.4(NRCAM):c.1214C>T (p.Pro405Leu) | Inborn genetic diseases [RCV004493451] | uncertain significance | 7 | 108198093 | 108198093 | Human | 1 | name |
| 405708220 | CV3362637 | single nucleotide variant | NM_001037132.4(NRCAM):c.1324C>G (p.Leu442Val) | Inborn genetic diseases [RCV004493452] | uncertain significance | 7 | 108197983 | 108197983 | Human | 1 | name |
| 405708232 | CV3362639 | single nucleotide variant | NM_001037132.4(NRCAM):c.1477A>C (p.Lys493Gln) | Inborn genetic diseases [RCV004493454] | uncertain significance | 7 | 108194415 | 108194415 | Human | 1 | name |
| 405708238 | CV3362640 | single nucleotide variant | NM_001037132.4(NRCAM):c.1547A>T (p.Gln516Leu) | Inborn genetic diseases [RCV004493455] | uncertain significance | 7 | 108194345 | 108194345 | Human | 1 | name |
| 405708244 | CV3362641 | single nucleotide variant | NM_001037132.4(NRCAM):c.1605G>C (p.Lys535Asn) | Inborn genetic diseases [RCV004493456] | uncertain significance | 7 | 108194287 | 108194287 | Human | 1 | name |
| 405708260 | CV3362643 | single nucleotide variant | NM_001037132.4(NRCAM):c.2074G>T (p.Gly692Trp) | Inborn genetic diseases [RCV004493458] | uncertain significance | 7 | 108184576 | 108184576 | Human | 1 | name |
| 405708267 | CV3362644 | single nucleotide variant | NM_001037132.4(NRCAM):c.2690G>A (p.Arg897His) | Inborn genetic diseases [RCV004493459] | uncertain significance | 7 | 108180384 | 108180384 | Human | 1 | name |
| 405708275 | CV3362645 | single nucleotide variant | NM_001037132.4(NRCAM):c.2701A>G (p.Lys901Glu) | Inborn genetic diseases [RCV004493460] | uncertain significance | 7 | 108180373 | 108180373 | Human | 1 | name |
| 405708285 | CV3362646 | single nucleotide variant | NM_001037132.4(NRCAM):c.2747C>T (p.Pro916Leu) | Inborn genetic diseases [RCV004493461] | uncertain significance | 7 | 108180327 | 108180327 | Human | 1 | name |
| 405708308 | CV3362649 | single nucleotide variant | NM_001037132.4(NRCAM):c.2956A>G (p.Thr986Ala) | Inborn genetic diseases [RCV004493464] | uncertain significance | 7 | 108178008 | 108178008 | Human | 1 | name |
| 407516834 | CV3465854 | single nucleotide variant | NM_001037132.4(NRCAM):c.2952G>C (p.Glu984Asp) | Inborn genetic diseases [RCV004650421] | uncertain significance | 7 | 108178012 | 108178012 | Human | 1 | name |
| 407476866 | CV3465855 | single nucleotide variant | NM_001037132.4(NRCAM):c.2947A>G (p.Thr983Ala) | Inborn genetic diseases [RCV004638688] | uncertain significance | 7 | 108178017 | 108178017 | Human | 1 | name |
| 407516836 | CV3465858 | single nucleotide variant | NM_001037132.4(NRCAM):c.1507G>A (p.Val503Ile) | Inborn genetic diseases [RCV004650422] | uncertain significance | 7 | 108194385 | 108194385 | Human | 1 | name |
| 407516841 | CV3465860 | single nucleotide variant | NM_001037132.4(NRCAM):c.2158C>T (p.Arg720Cys) | Inborn genetic diseases [RCV004650424] | uncertain significance | 7 | 108184492 | 108184492 | Human | 1 | name |
| 407476880 | CV3465861 | single nucleotide variant | NM_001037132.4(NRCAM):c.2375A>G (p.Asp792Gly) | Inborn genetic diseases [RCV004638691] | uncertain significance | 7 | 108182850 | 108182850 | Human | 1 | name |
| 597689535 | CV3566809 | single nucleotide variant | NM_001037132.4(NRCAM):c.1009A>G (p.Asn337Asp) | Inborn genetic diseases [RCV004953989] | uncertain significance | 7 | 108209487 | 108209487 | Human | 1 | name |
| 597689551 | CV3566811 | single nucleotide variant | NM_001037132.4(NRCAM):c.1264G>C (p.Val422Leu) | Inborn genetic diseases [RCV004953991] | uncertain significance | 7 | 108198043 | 108198043 | Human | 1 | name |
| 597689586 | CV3576761 | single nucleotide variant | NM_001037132.4(NRCAM):c.1873G>A (p.Val625Ile) | Inborn genetic diseases [RCV004953995] | uncertain significance | 7 | 108191759 | 108191759 | Human | 1 | name |
| 597689599 | CV3576762 | single nucleotide variant | NM_001037132.4(NRCAM):c.2501C>A (p.Ala834Asp) | Inborn genetic diseases [RCV004953996] | uncertain significance | 7 | 108182724 | 108182724 | Human | 1 | name |
| 597689608 | CV3576763 | single nucleotide variant | NM_001037132.4(NRCAM):c.2360G>A (p.Arg787His) | Inborn genetic diseases [RCV004953997] | uncertain significance | 7 | 108182865 | 108182865 | Human | 1 | name |
| 597689645 | CV3576767 | single nucleotide variant | NM_001037132.4(NRCAM):c.2537T>C (p.Met846Thr) | Inborn genetic diseases [RCV004954001] | uncertain significance | 7 | 108181931 | 108181931 | Human | 1 | name |
| 597689663 | CV3576769 | single nucleotide variant | NM_001037132.4(NRCAM):c.2029A>C (p.Ile677Leu) | Inborn genetic diseases [RCV004954003] | uncertain significance | 7 | 108189651 | 108189651 | Human | 1 | name |
| 597689687 | CV3576772 | single nucleotide variant | NM_001037132.4(NRCAM):c.1430C>G (p.Ala477Gly) | Inborn genetic diseases [RCV004954006] | uncertain significance | 7 | 108195794 | 108195794 | Human | 1 | name |
| 598126433 | CV3881911 | deletion | NM_001037132.4(NRCAM):c.3186del (p.Val1063fs) | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities [RCV005233463] | likely pathogenic | 7 | 108175323 | 108175323 | Human | 1 | name |
| 598220016 | CV3998036 | single nucleotide variant | NM_001037132.4(NRCAM):c.2303A>C (p.Lys768Thr) | Inborn genetic diseases [RCV005379439] | uncertain significance | 7 | 108184242 | 108184242 | Human | 1 | name |
| 598264599 | CV3998037 | single nucleotide variant | NM_001037132.4(NRCAM):c.1298A>G (p.Asn433Ser) | Inborn genetic diseases [RCV005387790] | uncertain significance | 7 | 108198009 | 108198009 | Human | 1 | name |
| 598220019 | CV3998038 | single nucleotide variant | NM_001037132.4(NRCAM):c.1048C>T (p.His350Tyr) | Inborn genetic diseases [RCV005379440] | uncertain significance | 7 | 108209448 | 108209448 | Human | 1 | name |
| 598264604 | CV3998039 | single nucleotide variant | NM_001037132.4(NRCAM):c.1720A>G (p.Thr574Ala) | Inborn genetic diseases [RCV005387791] | uncertain significance | 7 | 108194082 | 108194082 | Human | 1 | name |
| 598220025 | CV3998040 | single nucleotide variant | NM_001037132.4(NRCAM):c.1811C>T (p.Ala604Val) | Inborn genetic diseases [RCV005379441] | uncertain significance | 7 | 108191821 | 108191821 | Human | 1 | name |
| 598220033 | CV3998041 | single nucleotide variant | NM_001037132.4(NRCAM):c.1883G>A (p.Ser628Asn) | Inborn genetic diseases [RCV005379442] | uncertain significance | 7 | 108191749 | 108191749 | Human | 1 | name |
| 598264607 | CV3998042 | single nucleotide variant | NM_001037132.4(NRCAM):c.2726G>A (p.Ser909Asn) | Inborn genetic diseases [RCV005387792] | uncertain significance | 7 | 108180348 | 108180348 | Human | 1 | name |
| 598264612 | CV3998043 | single nucleotide variant | NM_001037132.4(NRCAM):c.1637C>T (p.Thr546Ile) | Inborn genetic diseases [RCV005387793] | uncertain significance | 7 | 108194165 | 108194165 | Human | 1 | name |
| 598220038 | CV3998044 | single nucleotide variant | NM_001037132.4(NRCAM):c.1339G>A (p.Val447Ile) | Inborn genetic diseases [RCV005379443] | uncertain significance | 7 | 108197968 | 108197968 | Human | 1 | name |
| 598220042 | CV3998045 | single nucleotide variant | NM_001037132.4(NRCAM):c.1813G>A (p.Asp605Asn) | Inborn genetic diseases [RCV005379444] | uncertain significance | 7 | 108191819 | 108191819 | Human | 1 | name |
| 598220048 | CV3998047 | single nucleotide variant | NM_001037132.4(NRCAM):c.1597A>G (p.Met533Val) | Inborn genetic diseases [RCV005379445] | uncertain significance | 7 | 108194295 | 108194295 | Human | 1 | name |
| 598264622 | CV3998048 | single nucleotide variant | NM_001037132.4(NRCAM):c.2609C>T (p.Pro870Leu) | Inborn genetic diseases [RCV005387795] | uncertain significance | 7 | 108181859 | 108181859 | Human | 1 | name |
| 598264638 | CV3998052 | single nucleotide variant | NM_001037132.4(NRCAM):c.2269G>C (p.Gly757Arg) | Inborn genetic diseases [RCV005387799] | uncertain significance | 7 | 108184276 | 108184276 | Human | 1 | name |
| 598264642 | CV3998053 | single nucleotide variant | NM_001037132.4(NRCAM):c.1726T>C (p.Ser576Pro) | Inborn genetic diseases [RCV005387800] | uncertain significance | 7 | 108194076 | 108194076 | Human | 1 | name |
| 598220054 | CV3998054 | single nucleotide variant | NM_001037132.4(NRCAM):c.2420T>C (p.Ile807Thr) | Inborn genetic diseases [RCV005379446] | uncertain significance | 7 | 108182805 | 108182805 | Human | 1 | name |
| 14696184 | CV612388 | single nucleotide variant | NM_001037132.4(NRCAM):c.2411C>G (p.Ser804Cys) | High myopia [RCV000785731] | uncertain significance | 7 | 108182814 | 108182814 | Human | 2 | name |
| 15124074 | CV710705 | single nucleotide variant | NM_001037132.4(NRCAM):c.2699A>G (p.Glu900Gly) | NRCAM-related disorder [RCV004535928]|not provided [RCV000963354] | likely benign | 7 | 108180375 | 108180375 | Human | 1 | name , trait |
| 8632280 | CV87488 | single nucleotide variant | NM_001193582.1(NRCAM):c.1537C>T (p.Pro513Ser) | Malignant melanoma [RCV000067579] | not provided | 7 | 108194355 | 108194355 | Human | | name |
| 8647053 | CV106689 | single nucleotide variant | NM_001037132.4(NRCAM):c.3764T>G (p.Leu1255Arg) | not provided [RCV000087187] | uncertain significance | 7 | 108150061 | 108150061 | Human | | name |
| 156250105 | CV2199634 | single nucleotide variant | NM_001037132.4(NRCAM):c.3716G>A (p.Arg1239Gln) | Inborn genetic diseases [RCV002668329] | uncertain significance | 7 | 108150109 | 108150109 | Human | 1 | name |
| 156365081 | CV2272051 | single nucleotide variant | NM_001037132.4(NRCAM):c.3478C>T (p.Arg1160Trp) | Inborn genetic diseases [RCV002813420] | uncertain significance | 7 | 108160481 | 108160481 | Human | 1 | name |
| 156290519 | CV2296514 | single nucleotide variant | NM_001037132.4(NRCAM):c.3266A>C (p.Glu1089Ala) | Inborn genetic diseases [RCV002878843] | uncertain significance | 7 | 108168324 | 108168324 | Human | 1 | name |
| 156301641 | CV2307090 | single nucleotide variant | NM_001037132.4(NRCAM):c.3767T>C (p.Val1256Ala) | Inborn genetic diseases [RCV002897999] | uncertain significance | 7 | 108150058 | 108150058 | Human | 1 | name |
| 155986316 | CV2363641 | single nucleotide variant | NM_001037132.4(NRCAM):c.3350C>T (p.Ser1117Phe) | Inborn genetic diseases [RCV002688821] | uncertain significance | 7 | 108167037 | 108167037 | Human | 1 | name |
| 156307299 | CV2369670 | single nucleotide variant | NM_001037132.4(NRCAM):c.3259G>A (p.Glu1087Lys) | Inborn genetic diseases [RCV003010837] | uncertain significance | 7 | 108168331 | 108168331 | Human | 1 | name |
| 329370257 | CV2435526 | single nucleotide variant | NM_001037132.4(NRCAM):c.3889G>A (p.Val1297Ile) | Inborn genetic diseases [RCV003184151] | uncertain significance | 7 | 108149936 | 108149936 | Human | 1 | name |
| 329354049 | CV2436848 | single nucleotide variant | NM_001037132.4(NRCAM):c.3353G>A (p.Arg1118Gln) | Inborn genetic diseases [RCV003201820] | uncertain significance | 7 | 108167034 | 108167034 | Human | 1 | name |
| 329393395 | CV2453332 | single nucleotide variant | NM_001037132.4(NRCAM):c.3538C>T (p.Leu1180Phe) | Inborn genetic diseases [RCV003193149] | uncertain significance | 7 | 108160421 | 108160421 | Human | 1 | name |
| 401723923 | CV2725089 | single nucleotide variant | NM_001037132.4(NRCAM):c.3490A>T (p.Ile1164Phe) | Inborn genetic diseases [RCV003268493] | uncertain significance | 7 | 108160469 | 108160469 | Human | 1 | name |
| 401855759 | CV2757410 | single nucleotide variant | NM_001037132.4(NRCAM):c.3782G>A (p.Gly1261Glu) | Inborn genetic diseases [RCV003339955] | uncertain significance | 7 | 108150043 | 108150043 | Human | 1 | name |
| 401885930 | CV2771496 | single nucleotide variant | NM_001037132.4(NRCAM):c.3500A>G (p.Gln1167Arg) | Inborn genetic diseases [RCV003366700] | uncertain significance | 7 | 108160459 | 108160459 | Human | 1 | name |
| 401870247 | CV2772660 | single nucleotide variant | NM_001037132.4(NRCAM):c.3587G>A (p.Gly1196Asp) | Inborn genetic diseases [RCV003346057] | uncertain significance | 7 | 108160372 | 108160372 | Human | 1 | name |
| 401873655 | CV2772707 | single nucleotide variant | NM_001037132.4(NRCAM):c.3784G>T (p.Val1262Phe) | Inborn genetic diseases [RCV003362047] | uncertain significance | 7 | 108150041 | 108150041 | Human | 1 | name |
| 405708329 | CV3362652 | single nucleotide variant | NM_001037132.4(NRCAM):c.3410G>T (p.Gly1137Val) | Inborn genetic diseases [RCV004493467] | uncertain significance | 7 | 108166977 | 108166977 | Human | 1 | name |
| 405708337 | CV3362653 | single nucleotide variant | NM_001037132.4(NRCAM):c.3693C>A (p.His1231Gln) | Inborn genetic diseases [RCV004493468] | uncertain significance | 7 | 108150132 | 108150132 | Human | 1 | name |
| 407476871 | CV3465856 | single nucleotide variant | NM_001037132.4(NRCAM):c.3479G>A (p.Arg1160Gln) | Inborn genetic diseases [RCV004638689] | uncertain significance | 7 | 108160480 | 108160480 | Human | 1 | name |
| 597689545 | CV3566810 | single nucleotide variant | NM_001037132.4(NRCAM):c.3146A>G (p.Asp1049Gly) | Inborn genetic diseases [RCV004953990] | uncertain significance | 7 | 108176435 | 108176435 | Human | 1 | name |
| 597689577 | CV3576760 | single nucleotide variant | NM_001037132.4(NRCAM):c.3215A>G (p.Asn1072Ser) | Inborn genetic diseases [RCV004953994] | uncertain significance | 7 | 108168375 | 108168375 | Human | 1 | name |
| 597689638 | CV3576766 | single nucleotide variant | NM_001037132.4(NRCAM):c.3310G>A (p.Gly1104Ser) | Inborn genetic diseases [RCV004954000] | uncertain significance | 7 | 108168280 | 108168280 | Human | 1 | name |
| 597689678 | CV3576771 | single nucleotide variant | NM_001037132.4(NRCAM):c.3776G>A (p.Gly1259Glu) | Inborn genetic diseases [RCV004954005] | uncertain significance | 7 | 108150049 | 108150049 | Human | 1 | name |
| 15185286 | CV722246 | single nucleotide variant | NM_001037132.4(NRCAM):c.3853G>A (p.Ala1285Thr) | NRCAM-related disorder [RCV004530938]|not provided [RCV000886652] | benign | 7 | 108149972 | 108149972 | Human | 1 | name , trait |
| 9831773 | CV166925 | deletion | NM_001037132.4(NRCAM):c.-331-26289_-331-18537del | Normal pregnancy [RCV000161491] | not provided | 7 | 108418130 | 108425882 | Human | | name |
| 151662674 | CV1320665 | indel | NM_001037132.4(NRCAM):c.2297_2302delinsTC (p.Thr766fs) | NRCAM-related disorder [RCV001824182] | pathogenic | 7 | 108184243 | 108184248 | Human | | name , trait |