| 9586959 | CV165718 | duplication | LMBR1, 73-KB DUP | Syndactyly type 4 [RCV000144045] | pathogenic | | | | Human | 1 | name |
| 8558348 | CV19944 | duplication | LMBR1, 235-KB DUP, IVS5 | Syndactyly type 4 [RCV000005186] | pathogenic | | | | Human | 1 | name |
| 11590729 | CV302280 | single nucleotide variant | NM_022458.4(LMBR1):c.*91C>T | Polydactyly of a triphalangeal thumb [RCV000322088]|not provided [RCV001692041] | benign | 7 | 156683987 | 156683987 | Human | 1 | name |
| 11585646 | CV302281 | single nucleotide variant | NM_022458.4(LMBR1):c.*36C>T | Polydactyly of a triphalangeal thumb [RCV000282355]|not provided [RCV001683430] | benign | 7 | 156684042 | 156684042 | Human | 1 | name |
| 11605162 | CV305504 | single nucleotide variant | NM_022458.4(LMBR1):c.*15G>A | Polydactyly of a triphalangeal thumb [RCV000316422]|not provided [RCV004712389] | benign|likely benign | 7 | 156684063 | 156684063 | Human | 1 | name |
| 11609940 | CV310406 | single nucleotide variant | NM_022458.4(LMBR1):c.*89A>T | Polydactyly of a triphalangeal thumb [RCV000374486]|not provided [RCV001707681] | benign | 7 | 156683989 | 156683989 | Human | 1 | name |
| 28906273 | CV897727 | single nucleotide variant | NM_022458.4(LMBR1):c.*11C>T | Polydactyly of a triphalangeal thumb [RCV001158885] | benign | 7 | 156684067 | 156684067 | Human | 1 | name |
| 28906464 | CV897734 | single nucleotide variant | NM_022458.4(LMBR1):c.-91C>G | Polydactyly of a triphalangeal thumb [RCV001158980] | benign | 7 | 156893084 | 156893084 | Human | 1 | name |
| 11651324 | CV302269 | single nucleotide variant | NM_022458.4(LMBR1):c.*728G>A | Polydactyly of a triphalangeal thumb [RCV000298091] | uncertain significance | 7 | 156683350 | 156683350 | Human | 1 | name |
| 11589473 | CV302271 | single nucleotide variant | NM_022458.4(LMBR1):c.*305G>A | Polydactyly of a triphalangeal thumb [RCV000310844] | uncertain significance | 7 | 156683773 | 156683773 | Human | 1 | name |
| 11594808 | CV302272 | single nucleotide variant | NM_022458.4(LMBR1):c.*303T>C | Polydactyly of a triphalangeal thumb [RCV000363154] | benign|likely benign | 7 | 156683775 | 156683775 | Human | 1 | name |
| 11657826 | CV302295 | single nucleotide variant | NM_022458.4(LMBR1):c.-154G>A | Polydactyly of a triphalangeal thumb [RCV000344349] | uncertain significance | 7 | 156893147 | 156893147 | Human | 1 | name |
| 11653629 | CV305482 | single nucleotide variant | NM_022458.4(LMBR1):c.*650A>G | Polydactyly of a triphalangeal thumb [RCV000312008] | uncertain significance | 7 | 156683428 | 156683428 | Human | 1 | name |
| 11655135 | CV305484 | single nucleotide variant | NM_022458.4(LMBR1):c.*166G>T | Polydactyly of a triphalangeal thumb [RCV000323241] | uncertain significance | 7 | 156683912 | 156683912 | Human | 1 | name |
| 11599330 | CV305501 | single nucleotide variant | NM_022458.4(LMBR1):c.*100T>G | Polydactyly of a triphalangeal thumb [RCV000264631] | benign | 7 | 156683978 | 156683978 | Human | 1 | name |
| 11611509 | CV310282 | single nucleotide variant | NM_022458.4(LMBR1):c.*685G>A | Polydactyly of a triphalangeal thumb [RCV000395754] | benign|likely benign | 7 | 156683393 | 156683393 | Human | 1 | name |
| 11660669 | CV310283 | single nucleotide variant | NM_022458.4(LMBR1):c.*457C>G | Polydactyly of a triphalangeal thumb [RCV000369069] | uncertain significance | 7 | 156683621 | 156683621 | Human | 1 | name |
| 11608174 | CV310395 | single nucleotide variant | NM_022458.4(LMBR1):c.*722G>C | Polydactyly of a triphalangeal thumb [RCV000351645] | benign | 7 | 156683356 | 156683356 | Human | 1 | name |
| 11600259 | CV310399 | single nucleotide variant | NM_022458.4(LMBR1):c.*383T>C | Polydactyly of a triphalangeal thumb [RCV000272143]|not provided [RCV004712388] | benign | 7 | 156683695 | 156683695 | Human | 1 | name |
| 11600098 | CV310400 | single nucleotide variant | NM_022458.4(LMBR1):c.*246G>A | Polydactyly of a triphalangeal thumb [RCV000270903] | uncertain significance | 7 | 156683832 | 156683832 | Human | 1 | name |
| 11635654 | CV310404 | duplication | NM_022458.4(LMBR1):c.*136dup | Triphalangeal thumb-polysyndactyly syndrome [RCV000380224]|not provided [RCV001643088] | benign | 7 | 156683941 | 156683942 | Human | 1 | name |
| 11664471 | CV310432 | single nucleotide variant | NM_022458.4(LMBR1):c.-158G>A | Polydactyly of a triphalangeal thumb [RCV000405899] | uncertain significance | 7 | 156893151 | 156893151 | Human | 1 | name |
| 11648845 | CV310436 | single nucleotide variant | NM_022458.4(LMBR1):c.-176G>A | Polydactyly of a triphalangeal thumb [RCV000284195] | uncertain significance | 7 | 156893169 | 156893169 | Human | 1 | name |
| 28870383 | CV897725 | single nucleotide variant | NM_022458.4(LMBR1):c.*916C>A | Polydactyly of a triphalangeal thumb [RCV001163501] | uncertain significance | 7 | 156683162 | 156683162 | Human | 1 | name |
| 28871059 | CV897726 | single nucleotide variant | NM_022458.4(LMBR1):c.*245C>T | Polydactyly of a triphalangeal thumb [RCV001163796]|not provided [RCV004695061] | uncertain significance | 7 | 156683833 | 156683833 | Human | 1 | name |
| 28906467 | CV897735 | single nucleotide variant | NM_022458.4(LMBR1):c.-146C>T | Polydactyly of a triphalangeal thumb [RCV001158981] | uncertain significance | 7 | 156893139 | 156893139 | Human | 1 | name |
| 150421464 | CV1180312 | single nucleotide variant | NM_022458.4(LMBR1):c.66+58C>T | not provided [RCV001552029] | likely benign | 7 | 156892870 | 156892870 | Human | | name |
| 150511083 | CV1213787 | single nucleotide variant | NM_022458.4(LMBR1):c.66+32C>T | not provided [RCV001597856] | benign | 7 | 156892896 | 156892896 | Human | | name |
| 150504564 | CV1223975 | single nucleotide variant | NM_022458.4(LMBR1):c.66+30T>C | not provided [RCV001621624] | benign | 7 | 156892898 | 156892898 | Human | | name |
| 150491733 | CV1239327 | single nucleotide variant | NM_022458.4(LMBR1):c.66+77T>G | not provided [RCV001654895] | benign | 7 | 156892851 | 156892851 | Human | | name |
| 150443295 | CV1277838 | duplication | NM_022458.4(LMBR1):c.66+75dup | not provided [RCV001706981] | benign | 7 | 156892851 | 156892852 | Human | | name |
| 11583315 | CV302229 | single nucleotide variant | NM_022458.4(LMBR1):c.*2926G>C | Polydactyly of a triphalangeal thumb [RCV000265910] | benign|likely benign | 7 | 156681152 | 156681152 | Human | 1 | name |
| 11596798 | CV302231 | single nucleotide variant | NM_022458.4(LMBR1):c.*2667A>T | Polydactyly of a triphalangeal thumb [RCV000386559] | benign|likely benign | 7 | 156681411 | 156681411 | Human | 1 | name |
| 11598452 | CV302235 | single nucleotide variant | NM_022458.4(LMBR1):c.*2500A>G | Polydactyly of a triphalangeal thumb [RCV000405749] | likely benign|uncertain significance | 7 | 156681578 | 156681578 | Human | 1 | name |
| 11592618 | CV302256 | single nucleotide variant | NM_022458.4(LMBR1):c.*2089G>A | Polydactyly of a triphalangeal thumb [RCV000340371]|not provided [RCV004712383] | benign | 7 | 156681989 | 156681989 | Human | 1 | name |
| 11597743 | CV302261 | single nucleotide variant | NM_022458.4(LMBR1):c.*2081G>A | Polydactyly of a triphalangeal thumb [RCV000397645] | benign|likely benign | 7 | 156681997 | 156681997 | Human | 1 | name |
| 11593916 | CV302262 | single nucleotide variant | NM_022458.4(LMBR1):c.*2065A>G | Polydactyly of a triphalangeal thumb [RCV000353352] | benign|likely benign | 7 | 156682013 | 156682013 | Human | 1 | name |
| 11596652 | CV302264 | single nucleotide variant | NM_022458.4(LMBR1):c.*1797G>C | Polydactyly of a triphalangeal thumb [RCV000384854] | benign | 7 | 156682281 | 156682281 | Human | 1 | name |
| 11585378 | CV302265 | single nucleotide variant | NM_022458.4(LMBR1):c.*1357A>G | Polydactyly of a triphalangeal thumb [RCV000280470] | benign|likely benign | 7 | 156682721 | 156682721 | Human | 1 | name |
| 11652567 | CV305453 | single nucleotide variant | NM_022458.4(LMBR1):c.*3180A>C | Polydactyly of a triphalangeal thumb [RCV000305668] | uncertain significance | 7 | 156680898 | 156680898 | Human | 1 | name |
| 11602202 | CV305454 | single nucleotide variant | NM_022458.4(LMBR1):c.*2489T>C | Polydactyly of a triphalangeal thumb [RCV000289082] | benign|likely benign | 7 | 156681589 | 156681589 | Human | 1 | name |
| 11603534 | CV305456 | single nucleotide variant | NM_022458.4(LMBR1):c.*2066G>C | Polydactyly of a triphalangeal thumb [RCV000300875] | benign|likely benign | 7 | 156682012 | 156682012 | Human | 1 | name |
| 11609363 | CV305458 | single nucleotide variant | NM_022458.4(LMBR1):c.*1922A>G | Polydactyly of a triphalangeal thumb [RCV000367361] | benign | 7 | 156682156 | 156682156 | Human | 1 | name |
| 11655616 | CV305461 | single nucleotide variant | NM_022458.4(LMBR1):c.*1534A>G | Polydactyly of a triphalangeal thumb [RCV000326915] | uncertain significance | 7 | 156682544 | 156682544 | Human | 1 | name |
| 11607059 | CV305463 | single nucleotide variant | NM_022458.4(LMBR1):c.*1444T>G | Polydactyly of a triphalangeal thumb [RCV000339133]|not provided [RCV004712386] | benign | 7 | 156682634 | 156682634 | Human | 1 | name |
| 11610141 | CV305480 | single nucleotide variant | NM_022458.4(LMBR1):c.*1359G>A | Polydactyly of a triphalangeal thumb [RCV000377372] | benign|likely benign | 7 | 156682719 | 156682719 | Human | 1 | name |
| 11635532 | CV310236 | duplication | NM_022458.4(LMBR1):c.*2992dup | Triphalangeal thumb-polysyndactyly syndrome [RCV000358154] | benign | 7 | 156681085 | 156681086 | Human | 1 | name |
| 11605367 | CV310238 | single nucleotide variant | NM_022458.4(LMBR1):c.*2905T>A | Polydactyly of a triphalangeal thumb [RCV000318687] | benign|likely benign | 7 | 156681173 | 156681173 | Human | 1 | name |
| 11608594 | CV310241 | single nucleotide variant | NM_022458.4(LMBR1):c.*2899A>T | Polydactyly of a triphalangeal thumb [RCV000357234] | uncertain significance | 7 | 156681179 | 156681179 | Human | 1 | name |
| 11655968 | CV310242 | single nucleotide variant | NM_022458.4(LMBR1):c.*2744G>T | Polydactyly of a triphalangeal thumb [RCV000329749] | uncertain significance | 7 | 156681334 | 156681334 | Human | 1 | name |
| 11602352 | CV310248 | single nucleotide variant | NM_022458.4(LMBR1):c.*2603A>G | Polydactyly of a triphalangeal thumb [RCV000289881]|not provided [RCV004712381] | benign | 7 | 156681475 | 156681475 | Human | 1 | name |
| 11607750 | CV310256 | single nucleotide variant | NM_022458.4(LMBR1):c.*2596A>G | Polydactyly of a triphalangeal thumb [RCV000347074]|not provided [RCV004712382] | benign|likely benign | 7 | 156681482 | 156681482 | Human | 1 | name |
| 11605042 | CV310271 | single nucleotide variant | NM_022458.4(LMBR1):c.*1971A>T | Polydactyly of a triphalangeal thumb [RCV000315115]|not provided [RCV004712384] | benign|likely benign | 7 | 156682107 | 156682107 | Human | 1 | name |
| 11655815 | CV310272 | single nucleotide variant | NM_022458.4(LMBR1):c.*1862T>A | Polydactyly of a triphalangeal thumb [RCV000328037] | uncertain significance | 7 | 156682216 | 156682216 | Human | 1 | name |
| 11610247 | CV310273 | single nucleotide variant | NM_022458.4(LMBR1):c.*1470G>A | Polydactyly of a triphalangeal thumb [RCV000379220]|not provided [RCV004712385] | benign|likely benign | 7 | 156682608 | 156682608 | Human | 1 | name |
| 11657006 | CV310274 | duplication | NM_022458.4(LMBR1):c.*1338dup | Triphalangeal thumb-polysyndactyly syndrome [RCV000337883] | uncertain significance | 7 | 156682739 | 156682740 | Human | 1 | name |
| 11612148 | CV310280 | single nucleotide variant | NM_022458.4(LMBR1):c.*1325C>T | Polydactyly of a triphalangeal thumb [RCV000404441]|not provided [RCV004712387] | benign | 7 | 156682753 | 156682753 | Human | 1 | name |
| 11598799 | CV310360 | single nucleotide variant | NM_022458.4(LMBR1):c.*2820G>A | Polydactyly of a triphalangeal thumb [RCV000260048] | benign|likely benign | 7 | 156681258 | 156681258 | Human | 1 | name |
| 11605232 | CV310364 | single nucleotide variant | NM_022458.4(LMBR1):c.*2798C>T | Polydactyly of a triphalangeal thumb [RCV000317092] | uncertain significance | 7 | 156681280 | 156681280 | Human | 1 | name |
| 11662651 | CV310365 | single nucleotide variant | NM_022458.4(LMBR1):c.*2773G>T | Polydactyly of a triphalangeal thumb [RCV000387948] | uncertain significance | 7 | 156681305 | 156681305 | Human | 1 | name |
| 11603018 | CV310366 | single nucleotide variant | NM_022458.4(LMBR1):c.*2761G>A | Polydactyly of a triphalangeal thumb [RCV000295827] | benign|likely benign | 7 | 156681317 | 156681317 | Human | 1 | name |
| 11607279 | CV310373 | single nucleotide variant | NM_022458.4(LMBR1):c.*2477G>A | Polydactyly of a triphalangeal thumb [RCV000341690] | likely benign|uncertain significance | 7 | 156681601 | 156681601 | Human | 1 | name |
| 11612255 | CV310375 | single nucleotide variant | NM_022458.4(LMBR1):c.*2297C>T | Polydactyly of a triphalangeal thumb [RCV000405979] | benign|uncertain significance | 7 | 156681781 | 156681781 | Human | 1 | name |
| 11603662 | CV310377 | single nucleotide variant | NM_022458.4(LMBR1):c.*2198C>G | Polydactyly of a triphalangeal thumb [RCV000302109] | benign|likely benign | 7 | 156681880 | 156681880 | Human | 1 | name |
| 11600766 | CV310378 | single nucleotide variant | NM_022458.4(LMBR1):c.*2016C>T | Polydactyly of a triphalangeal thumb [RCV000276343] | likely benign|uncertain significance | 7 | 156682062 | 156682062 | Human | 1 | name |
| 11600619 | CV310386 | single nucleotide variant | NM_022458.4(LMBR1):c.*1905C>G | Polydactyly of a triphalangeal thumb [RCV000275166] | benign | 7 | 156682173 | 156682173 | Human | 1 | name |
| 11634709 | CV310388 | duplication | NM_022458.4(LMBR1):c.*1785dup | Triphalangeal thumb-polysyndactyly syndrome [RCV000269455] | benign | 7 | 156682292 | 156682293 | Human | 1 | name |
| 11601939 | CV310389 | single nucleotide variant | NM_022458.4(LMBR1):c.*1469C>T | Polydactyly of a triphalangeal thumb [RCV000286478] | benign|likely benign | 7 | 156682609 | 156682609 | Human | 1 | name |
| 11666742 | CV353808 | single nucleotide variant | NM_022458.4(LMBR1):c.*3207T>G | Polydactyly of a triphalangeal thumb [RCV000375674] | benign|likely benign | 7 | 156680871 | 156680871 | Human | 1 | name |
| 597875226 | CV3743802 | single nucleotide variant | NM_022458.4(LMBR1):c.684+3A>G | not provided [RCV005069208] | uncertain significance | 7 | 156762131 | 156762131 | Human | | name |
| 15170228 | CV759651 | single nucleotide variant | NM_022458.4(LMBR1):c.551-6T>A | not provided [RCV000927655] | likely benign | 7 | 156763182 | 156763182 | Human | | name |
| 28874500 | CV897701 | single nucleotide variant | NM_022458.4(LMBR1):c.*3187A>G | Polydactyly of a triphalangeal thumb [RCV001165394]|not provided [RCV004695077] | uncertain significance | 7 | 156680891 | 156680891 | Human | 1 | name |
| 28874504 | CV897702 | single nucleotide variant | NM_022458.4(LMBR1):c.*2948G>T | Polydactyly of a triphalangeal thumb [RCV001165395] | uncertain significance | 7 | 156681130 | 156681130 | Human | 1 | name |
| 28905877 | CV897703 | single nucleotide variant | NM_022458.4(LMBR1):c.*2771G>A | Polydactyly of a triphalangeal thumb [RCV001158668] | uncertain significance | 7 | 156681307 | 156681307 | Human | 1 | name |
| 28905881 | CV897704 | single nucleotide variant | NM_022458.4(LMBR1):c.*2706A>G | Polydactyly of a triphalangeal thumb [RCV001158669] | uncertain significance | 7 | 156681372 | 156681372 | Human | 1 | name |
| 28905884 | CV897705 | single nucleotide variant | NM_022458.4(LMBR1):c.*2658T>C | Polydactyly of a triphalangeal thumb [RCV001158670] | uncertain significance | 7 | 156681420 | 156681420 | Human | 1 | name |
| 28905888 | CV897706 | single nucleotide variant | NM_022458.4(LMBR1):c.*2609C>T | Polydactyly of a triphalangeal thumb [RCV001158671] | benign | 7 | 156681469 | 156681469 | Human | 1 | name |
| 28867418 | CV897707 | single nucleotide variant | NM_022458.4(LMBR1):c.*2519T>A | Polydactyly of a triphalangeal thumb [RCV001161875] | uncertain significance | 7 | 156681559 | 156681559 | Human | 1 | name |
| 28867419 | CV897708 | single nucleotide variant | NM_022458.4(LMBR1):c.*2458A>G | Polydactyly of a triphalangeal thumb [RCV001161876] | uncertain significance | 7 | 156681620 | 156681620 | Human | 1 | name |
| 28867421 | CV897709 | single nucleotide variant | NM_022458.4(LMBR1):c.*2451C>A | Polydactyly of a triphalangeal thumb [RCV001161877] | uncertain significance | 7 | 156681627 | 156681627 | Human | 1 | name |
| 28870147 | CV897710 | single nucleotide variant | NM_022458.4(LMBR1):c.*2262G>A | Polydactyly of a triphalangeal thumb [RCV001163406] | uncertain significance | 7 | 156681816 | 156681816 | Human | 1 | name |
| 28870151 | CV897711 | single nucleotide variant | NM_022458.4(LMBR1):c.*2147T>C | Polydactyly of a triphalangeal thumb [RCV001163407] | uncertain significance | 7 | 156681931 | 156681931 | Human | 1 | name |
| 28870152 | CV897712 | single nucleotide variant | NM_022458.4(LMBR1):c.*2088C>T | Polydactyly of a triphalangeal thumb [RCV001163408] | uncertain significance | 7 | 156681990 | 156681990 | Human | 1 | name |
| 28870155 | CV897713 | single nucleotide variant | NM_022458.4(LMBR1):c.*2080C>T | Polydactyly of a triphalangeal thumb [RCV001163409] | uncertain significance | 7 | 156681998 | 156681998 | Human | 1 | name |
| 28870855 | CV897714 | single nucleotide variant | NM_022458.4(LMBR1):c.*2020T>C | Polydactyly of a triphalangeal thumb [RCV001163695] | uncertain significance | 7 | 156682058 | 156682058 | Human | 1 | name |
| 28906087 | CV897715 | single nucleotide variant | NM_022458.4(LMBR1):c.*1841T>A | Polydactyly of a triphalangeal thumb [RCV001158773] | uncertain significance | 7 | 156682237 | 156682237 | Human | 1 | name |
| 28906090 | CV897716 | single nucleotide variant | NM_022458.4(LMBR1):c.*1608C>T | Polydactyly of a triphalangeal thumb [RCV001158774] | uncertain significance | 7 | 156682470 | 156682470 | Human | 1 | name |
| 28906091 | CV897717 | single nucleotide variant | NM_022458.4(LMBR1):c.*1560T>A | Polydactyly of a triphalangeal thumb [RCV001158775] | uncertain significance | 7 | 156682518 | 156682518 | Human | 1 | name |
| 28908477 | CV897718 | single nucleotide variant | NM_022458.4(LMBR1):c.*1363G>T | Polydactyly of a triphalangeal thumb [RCV001160126] | uncertain significance | 7 | 156682715 | 156682715 | Human | 1 | name |
| 28908481 | CV897719 | single nucleotide variant | NM_022458.4(LMBR1):c.*1358C>T | Polydactyly of a triphalangeal thumb [RCV001160127] | uncertain significance | 7 | 156682720 | 156682720 | Human | 1 | name |
| 28908483 | CV897720 | single nucleotide variant | NM_022458.4(LMBR1):c.*1347A>G | Polydactyly of a triphalangeal thumb [RCV001160128] | uncertain significance | 7 | 156682731 | 156682731 | Human | 1 | name |
| 28908486 | CV897721 | single nucleotide variant | NM_022458.4(LMBR1):c.*1259C>T | Polydactyly of a triphalangeal thumb [RCV001160129] | uncertain significance | 7 | 156682819 | 156682819 | Human | 1 | name |
| 28908487 | CV897722 | single nucleotide variant | NM_022458.4(LMBR1):c.*1172C>T | Polydactyly of a triphalangeal thumb [RCV001160130] | uncertain significance | 7 | 156682906 | 156682906 | Human | 1 | name |
| 28870377 | CV897723 | single nucleotide variant | NM_022458.4(LMBR1):c.*1150A>G | Polydactyly of a triphalangeal thumb [RCV001163499] | uncertain significance | 7 | 156682928 | 156682928 | Human | 1 | name |
| 28870380 | CV897724 | single nucleotide variant | NM_022458.4(LMBR1):c.*1061A>G | Polydactyly of a triphalangeal thumb [RCV001163500] | benign | 7 | 156683017 | 156683017 | Human | 1 | name |
| 150339983 | CV1168115 | single nucleotide variant | NM_022458.4(LMBR1):c.839-79T>A | not provided [RCV001534828] | benign | 7 | 156728799 | 156728799 | Human | | name |
| 150418510 | CV1197664 | single nucleotide variant | NM_022458.4(LMBR1):c.66+192C>T | not provided [RCV001576770] | likely benign | 7 | 156892736 | 156892736 | Human | | name |
| 150511080 | CV1213786 | single nucleotide variant | NM_022458.4(LMBR1):c.550+41C>T | not provided [RCV001597855] | benign | 7 | 156763628 | 156763628 | Human | | name |
| 150516161 | CV1216462 | single nucleotide variant | NM_022458.4(LMBR1):c.66+227C>G | not provided [RCV001608653] | benign | 7 | 156892701 | 156892701 | Human | | name |
| 150465844 | CV1240309 | single nucleotide variant | NM_022458.4(LMBR1):c.180-77G>A | not provided [RCV001650070] | benign | 7 | 156826821 | 156826821 | Human | | name |
| 150502823 | CV1241656 | single nucleotide variant | NM_022458.4(LMBR1):c.66+209G>C | not provided [RCV001657247] | benign | 7 | 156892719 | 156892719 | Human | | name |
| 150475295 | CV1251696 | duplication | NM_022458.4(LMBR1):c.67-297dup | not provided [RCV001671894] | benign | 7 | 156837170 | 156837171 | Human | | name |
| 150505269 | CV1255428 | single nucleotide variant | NM_022458.4(LMBR1):c.179+43G>A | not provided [RCV001677875] | benign | 7 | 156833710 | 156833710 | Human | | name |
| 150497249 | CV1256674 | single nucleotide variant | NM_022458.4(LMBR1):c.66+223C>T | not provided [RCV001676166] | benign | 7 | 156892705 | 156892705 | Human | | name |
| 150486589 | CV1262599 | deletion | NM_022458.4(LMBR1):c.66+229del | not provided [RCV001686996] | benign | 7 | 156892699 | 156892699 | Human | | name |
| 150500449 | CV1283572 | single nucleotide variant | NM_022458.4(LMBR1):c.685-36C>T | not provided [RCV001718395] | benign | 7 | 156756501 | 156756501 | Human | | name |
| 152108590 | CV1548061 | single nucleotide variant | NM_022458.4(LMBR1):c.180-20G>T | not provided [RCV002174039] | likely benign | 7 | 156826764 | 156826764 | Human | | name |
| 156292509 | CV2111480 | single nucleotide variant | NM_022458.4(LMBR1):c.1068-1G>A | not provided [RCV002922213] | likely pathogenic|uncertain significance | 7 | 156725526 | 156725526 | Human | | name |
| 156232127 | CV2156997 | single nucleotide variant | NM_022458.4(LMBR1):c.619+13C>G | not provided [RCV003025683] | likely benign | 7 | 156763095 | 156763095 | Human | | name |
| 405093537 | CV3054704 | single nucleotide variant | NM_022458.4(LMBR1):c.1068-8T>C | not provided [RCV003717919] | likely benign | 7 | 156725533 | 156725533 | Human | | name |
| 405094400 | CV3118927 | single nucleotide variant | NM_022458.4(LMBR1):c.140-10A>C | not provided [RCV003811378] | likely benign | 7 | 156833802 | 156833802 | Human | | name |
| 405045428 | CV3137397 | single nucleotide variant | NM_022458.4(LMBR1):c.140-19A>G | not provided [RCV003831626] | likely benign | 7 | 156833811 | 156833811 | Human | | name |
| 405169202 | CV3156897 | single nucleotide variant | NM_022458.4(LMBR1):c.620-20T>C | not provided [RCV003857601] | likely benign | 7 | 156762218 | 156762218 | Human | | name |
| 597887804 | CV3741995 | single nucleotide variant | NM_022458.4(LMBR1):c.993+19A>G | not provided [RCV005070715] | likely benign | 7 | 156727911 | 156727911 | Human | | name |
| 597971624 | CV3750783 | deletion | NM_022458.4(LMBR1):c.838+18del | not provided [RCV005084527] | benign | 7 | 156734159 | 156734159 | Human | | name |
| 597922651 | CV3839835 | single nucleotide variant | NM_022458.4(LMBR1):c.1159-2A>G | not provided [RCV005184574] | uncertain significance | 7 | 156724180 | 156724180 | Human | | name |
| 13539341 | CV501989 | duplication | NM_022458.4(LMBR1):c.424-10dup | not provided [RCV005056308]|not specified [RCV000613148] | likely benign | 7 | 156763804 | 156763805 | Human | | name |
| 13837129 | CV588414 | deletion | NM_022458.4(LMBR1):c.684+10del | not provided [RCV000733438] | uncertain significance | 7 | 156762124 | 156762124 | Human | | name |
| 15100644 | CV787407 | single nucleotide variant | NM_022458.4(LMBR1):c.1159-4A>T | not provided [RCV000975443] | likely benign | 7 | 156724182 | 156724182 | Human | | name |
| 28906278 | CV900334 | single nucleotide variant | NM_022458.4(LMBR1):c.1159-3C>T | Polydactyly of a triphalangeal thumb [RCV001158887] | benign | 7 | 156724181 | 156724181 | Human | 1 | name |
| 150336309 | CV1164971 | single nucleotide variant | NM_022458.4(LMBR1):c.685-187G>A | not provided [RCV001530787] | likely benign | 7 | 156756652 | 156756652 | Human | | name |
| 150333087 | CV1171694 | single nucleotide variant | NM_022458.4(LMBR1):c.758-154A>G | not provided [RCV001539309] | benign | 7 | 156734411 | 156734411 | Human | | name |
| 150332628 | CV1171695 | deletion | NM_022458.4(LMBR1):c.550+224del | not provided [RCV001539128] | benign | 7 | 156763445 | 156763445 | Human | | name |
| 150332129 | CV1171696 | single nucleotide variant | NM_022458.4(LMBR1):c.550+169T>A | not provided [RCV001538914] | likely benign | 7 | 156763500 | 156763500 | Human | | name |
| 150331184 | CV1171697 | duplication | NM_022458.4(LMBR1):c.424-218dup | Holoprosencephaly 3 [RCV002071939]|not provided [RCV001538528] | benign|likely benign | 7 | 156764005 | 156764006 | Human | 1 | name |
| 150414256 | CV1176889 | single nucleotide variant | NM_022458.4(LMBR1):c.684+203G>A | not provided [RCV001548049] | likely benign | 7 | 156761931 | 156761931 | Human | | name |
| 150424465 | CV1183958 | single nucleotide variant | NM_022458.4(LMBR1):c.180-146T>C | not provided [RCV001556693] | likely benign | 7 | 156826890 | 156826890 | Human | | name |
| 150427638 | CV1187218 | single nucleotide variant | NM_022458.4(LMBR1):c.139+124C>G | not provided [RCV001561195] | likely benign | 7 | 156836689 | 156836689 | Human | | name |
| 150405614 | CV1190643 | single nucleotide variant | NM_022458.4(LMBR1):c.916-176A>C | not provided [RCV001564360] | likely benign | 7 | 156728183 | 156728183 | Human | | name |
| 150415538 | CV1190644 | single nucleotide variant | NM_022458.4(LMBR1):c.180-261T>C | not provided [RCV001568027] | likely benign | 7 | 156827005 | 156827005 | Human | | name |
| 150415625 | CV1197662 | single nucleotide variant | NM_022458.4(LMBR1):c.424-237A>G | Holoprosencephaly 3 [RCV002072260]|not provided [RCV001575486] | benign|likely benign | 7 | 156764032 | 156764032 | Human | 1 | name |
| 150417189 | CV1197663 | single nucleotide variant | NM_022458.4(LMBR1):c.140-110T>A | not provided [RCV001576193] | likely benign | 7 | 156833902 | 156833902 | Human | | name |
| 150513955 | CV1210785 | single nucleotide variant | NM_022458.4(LMBR1):c.550+228T>G | not provided [RCV001598826] | benign | 7 | 156763441 | 156763441 | Human | | name |
| 150511308 | CV1212703 | single nucleotide variant | NM_022458.4(LMBR1):c.1387+91C>T | not provided [RCV001597934] | benign | 7 | 156687939 | 156687939 | Human | | name |
| 150450451 | CV1215248 | single nucleotide variant | NM_022458.4(LMBR1):c.140-209A>G | not provided [RCV001611838] | benign | 7 | 156834001 | 156834001 | Human | | name |
| 150434730 | CV1215962 | single nucleotide variant | NM_022458.4(LMBR1):c.319+260C>G | not provided [RCV001609151] | benign | 7 | 156826345 | 156826345 | Human | | name |
| 150447325 | CV1216101 | duplication | NM_022458.4(LMBR1):c.684+142dup | not provided [RCV001611399] | benign | 7 | 156761976 | 156761977 | Human | | name |
| 150466997 | CV1218284 | single nucleotide variant | NM_022458.4(LMBR1):c.1159-79C>A | not provided [RCV001614410] | benign | 7 | 156724257 | 156724257 | Human | | name |
| 150476541 | CV1218491 | single nucleotide variant | NM_022458.4(LMBR1):c.619+208T>C | not provided [RCV001616118] | benign | 7 | 156762900 | 156762900 | Human | | name |
| 150440932 | CV1220239 | single nucleotide variant | NM_022458.4(LMBR1):c.1068-40T>C | not provided [RCV001610222] | benign | 7 | 156725565 | 156725565 | Human | | name |
| 150485522 | CV1223014 | single nucleotide variant | NM_022458.4(LMBR1):c.619+210G>A | not provided [RCV001617726] | benign | 7 | 156762898 | 156762898 | Human | | name |
| 150460479 | CV1236257 | single nucleotide variant | NM_022458.4(LMBR1):c.994-278A>G | not provided [RCV001649228] | benign | 7 | 156726115 | 156726115 | Human | | name |
| 150510082 | CV1248502 | single nucleotide variant | NM_022458.4(LMBR1):c.685-196T>A | not provided [RCV001659571] | benign | 7 | 156756661 | 156756661 | Human | | name |
| 150443084 | CV1249226 | single nucleotide variant | NM_022458.4(LMBR1):c.180-215C>T | not provided [RCV001666658] | benign | 7 | 156826959 | 156826959 | Human | | name |
| 150464264 | CV1252648 | single nucleotide variant | NM_022458.4(LMBR1):c.140-191C>G | not provided [RCV001669972] | benign | 7 | 156833983 | 156833983 | Human | | name |
| 150450102 | CV1254069 | single nucleotide variant | NM_022458.4(LMBR1):c.320-301C>T | not provided [RCV001667706] | benign | 7 | 156796793 | 156796793 | Human | | name |
| 150503239 | CV1257748 | single nucleotide variant | NM_022458.4(LMBR1):c.1159-84A>G | not provided [RCV001677436] | benign | 7 | 156724262 | 156724262 | Human | | name |
| 150495136 | CV1266177 | single nucleotide variant | NM_022458.4(LMBR1):c.319+224T>C | not provided [RCV001688499] | benign | 7 | 156826381 | 156826381 | Human | | name |
| 150464983 | CV1277164 | single nucleotide variant | NM_022458.4(LMBR1):c.139+272C>T | not provided [RCV001710458] | benign | 7 | 156836541 | 156836541 | Human | | name |
| 150484981 | CV1280615 | single nucleotide variant | NM_022458.4(LMBR1):c.838+226C>A | not provided [RCV001715495] | benign | 7 | 156733951 | 156733951 | Human | | name |
| 152026096 | CV1639252 | single nucleotide variant | NM_022458.4(LMBR1):c.424-429C>G | not provided [RCV002560760] | likely benign | 7 | 156764224 | 156764224 | Human | | name |
| 11607067 | CV310336 | microsatellite | NM_022458.4(LMBR1):c.-183GCT[1] | Triphalangeal thumb-polysyndactyly syndrome [RCV000339202]|not provided [RCV001653721] | benign | 7 | 156893171 | 156893173 | Human | | name |
| 405096326 | CV3139809 | single nucleotide variant | NM_022458.4(LMBR1):c.1159-15C>T | not provided [RCV003835220] | likely benign | 7 | 156724193 | 156724193 | Human | | name |
| 150422762 | CV1180311 | single nucleotide variant | NM_022458.4(LMBR1):c.1226-261G>A | not provided [RCV001553081] | likely benign | 7 | 156688452 | 156688452 | Human | | name |
| 150487640 | CV1208136 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4218T>C | not provided [RCV001591996] | likely benign | 7 | 156792171 | 156792171 | Human | | name |
| 150511999 | CV1242853 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3946T>C | not provided [RCV001661207] | benign | 7 | 156792443 | 156792443 | Human | | name |
| 150482822 | CV1247517 | single nucleotide variant | NM_022458.4(LMBR1):c.1225+253A>G | not provided [RCV001673343] | benign | 7 | 156723859 | 156723859 | Human | | name |
| 8590681 | CV125389 | single nucleotide variant | NM_022458.3(LMBR1):c.66+27899G>A | Lung cancer [RCV000105908] | uncertain significance | 7 | 156865029 | 156865029 | Human | | name |
| 150505175 | CV1255403 | single nucleotide variant | NM_022458.4(LMBR1):c.1388-207T>C | not provided [RCV001677850] | benign | 7 | 156684370 | 156684370 | Human | | name |
| 150440119 | CV1265063 | single nucleotide variant | NM_022458.4(LMBR1):c.1226-251G>A | not provided [RCV001679056] | benign | 7 | 156688442 | 156688442 | Human | | name |
| 150444549 | CV1266547 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3899G>C | not provided [RCV001690984] | benign | 7 | 156792490 | 156792490 | Human | | name |
| 150460231 | CV1268465 | single nucleotide variant | NM_022458.4(LMBR1):c.1226-298T>A | not provided [RCV001693462] | benign | 7 | 156688489 | 156688489 | Human | | name |
| 150447074 | CV1270253 | single nucleotide variant | NM_022458.4(LMBR1):c.1158+122A>G | not provided [RCV001691387] | benign | 7 | 156725313 | 156725313 | Human | | name |
| 150466994 | CV1277496 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4179G>A | not provided [RCV001710791] | benign | 7 | 156792210 | 156792210 | Human | | name |
| 150534391 | CV1302008 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4916T>C | not provided [RCV001757226] | uncertain significance | 7 | 156791473 | 156791473 | Human | | name |
| 8591255 | CV131903 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4915C>T | Polydactyly of a triphalangeal thumb [RCV000148024]|Tibia, hypoplasia or aplasia of, with polydactyly [RCV000148025]|Triphalangeal thumb [RCV000148023]|not provided [RCV001854530] | pathogenic|not provided | 7 | 156791474 | 156791474 | Human | 4 | name |
| 151751787 | CV1357423 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3747A>G | not provided [RCV001894404] | uncertain significance | 7 | 156792642 | 156792642 | Human | | name |
| 152127720 | CV1554261 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5045A>G | SHH-related disorder [RCV004738553]|not provided [RCV002176386] | likely benign | 7 | 156791344 | 156791344 | Human | | name |
| 152092985 | CV1584571 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5072A>G | not provided [RCV002114329] | likely benign|uncertain significance | 7 | 156791317 | 156791317 | Human | | name |
| 152111029 | CV1617793 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3777C>T | not provided [RCV002116543] | likely benign | 7 | 156792612 | 156792612 | Human | | name |
| 152122477 | CV1631949 | duplication | NM_022458.4(LMBR1):c.423+5061dup | not provided [RCV002118024] | benign | 7 | 156791327 | 156791328 | Human | | name |
| 9586960 | CV165719 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4919A>G | Acheiropodia [RCV004796040]|Tibia, hypoplasia or aplasia of, with polydactyly [RCV003991466]|not provided [RCV004719711] | pathogenic|likely pathogenic | 7 | 156791470 | 156791470 | Human | 2 | name |
| 156221236 | CV1879291 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4656A>G | SHH-related disorder [RCV004550368]|not provided [RCV003058947] | likely benign | 7 | 156791733 | 156791733 | Human | | name |
| 156257756 | CV1906340 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5034A>G | not provided [RCV003086332] | likely benign | 7 | 156791355 | 156791355 | Human | | name |
| 156268145 | CV1915129 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5195G>C | not provided [RCV002628000] | likely benign | 7 | 156791194 | 156791194 | Human | | name |
| 156404345 | CV1916525 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4768G>T | not provided [RCV002606074] | likely benign | 7 | 156791621 | 156791621 | Human | | name |
| 156298288 | CV1919805 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4584T>C | not provided [RCV002599045] | likely benign | 7 | 156791805 | 156791805 | Human | | name |
| 156208264 | CV1959464 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3575C>T | not provided [RCV002575051] | likely benign | 7 | 156792814 | 156792814 | Human | | name |
| 156135290 | CV1962889 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3768A>G | not provided [RCV002572374] | likely benign | 7 | 156792621 | 156792621 | Human | | name |
| 156005740 | CV1984415 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5256T>G | not provided [RCV002618658] | likely pathogenic|uncertain significance | 7 | 156791133 | 156791133 | Human | | name |
| 8558340 | CV19936 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4618C>G | Polydactyly of a triphalangeal thumb [RCV000005175] | pathogenic | 7 | 156791771 | 156791771 | Human | 1 | name |
| 8558341 | CV19937 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4917G>A | Tibia, hypoplasia or aplasia of, with polydactyly [RCV000005176] | pathogenic | 7 | 156791472 | 156791472 | Human | 1 | name |
| 8558342 | CV19938 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4818A>T | Polydactyly of a triphalangeal thumb [RCV000005177] | pathogenic | 7 | 156791571 | 156791571 | Human | 1 | name |
| 8558343 | CV19939 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4842T>C | Polydactyly of a triphalangeal thumb [RCV000005178]|Triphalangeal thumb [RCV000005179] | pathogenic | 7 | 156791547 | 156791547 | Human | 3 | name |
| 8558345 | CV19941 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5252A>G | Polydactyly of a triphalangeal thumb [RCV000005181]|Triphalangeal thumb [RCV000005182]|not provided [RCV002512797] | pathogenic | 7 | 156791137 | 156791137 | Human | 3 | name |
| 8558346 | CV19942 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5134C>G | Polydactyly of a triphalangeal thumb [RCV000005183]|Triphalangeal thumb [RCV000005184] | pathogenic | 7 | 156791255 | 156791255 | Human | 3 | name |
| 8558349 | CV19945 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4808T>C | Polydactyly of a triphalangeal thumb [RCV000005188]|Triphalangeal thumb [RCV000005187]|not provided [RCV002512798] | pathogenic | 7 | 156791581 | 156791581 | Human | 3 | name |
| 8558350 | CV19946 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4909C>T | Polydactyly of a triphalangeal thumb [RCV000005189]|not provided [RCV005089175] | pathogenic|uncertain significance | 7 | 156791480 | 156791480 | Human | 1 | name |
| 156219322 | CV2047819 | deletion | NM_022458.4(LMBR1):c.423+3908del | not provided [RCV002790569] | likely benign | 7 | 156792481 | 156792481 | Human | | name |
| 156054796 | CV2089808 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4794A>G | not provided [RCV002867903] | likely benign|uncertain significance | 7 | 156791595 | 156791595 | Human | | name |
| 156029210 | CV2131559 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5155G>T | not provided [RCV002976528] | likely benign | 7 | 156791234 | 156791234 | Human | | name |
| 156141946 | CV2138012 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4543C>T | not provided [RCV002982345] | likely benign | 7 | 156791846 | 156791846 | Human | | name |
| 156207122 | CV2160219 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3706T>C | not provided [RCV003042193] | likely benign|uncertain significance | 7 | 156792683 | 156792683 | Human | | name |
| 329847377 | CV2524211 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5284C>T | not provided [RCV003227103] | uncertain significance | 7 | 156791105 | 156791105 | Human | | name |
| 401914191 | CV2799204 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5362C>T | LMBR1-related disorder [RCV003400346] | uncertain significance | 7 | 156791027 | 156791027 | Human | | name , trait , alternate_id |
| 401907262 | CV2800174 | single nucleotide variant | NM_022458.4(LMBR1):c.758-2293G>C | LMBR1-related disorder [RCV003397309] | uncertain significance | 7 | 156736550 | 156736550 | Human | | name , trait , alternate_id |
| 401931820 | CV2801818 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4844T>A | LMBR1-related disorder [RCV003391618] | uncertain significance | 7 | 156791545 | 156791545 | Human | | name , trait , alternate_id |
| 405046126 | CV2859761 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4628G>A | not provided [RCV003579332] | benign | 7 | 156791761 | 156791761 | Human | | name |
| 405063533 | CV2868543 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5082T>G | not provided [RCV003548076] | likely benign | 7 | 156791307 | 156791307 | Human | | name |
| 402496100 | CV2875305 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4831T>A | not provided [RCV003545436] | likely benign | 7 | 156791558 | 156791558 | Human | | name |
| 405062074 | CV3030026 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5068G>A | not provided [RCV003697689] | likely benign|uncertain significance | 7 | 156791321 | 156791321 | Human | | name |
| 405094251 | CV3118888 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3537A>G | not provided [RCV003811339] | likely benign | 7 | 156792852 | 156792852 | Human | | name |
| 405088931 | CV3122212 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3863G>C | not provided [RCV003810967] | likely benign | 7 | 156792526 | 156792526 | Human | | name |
| 405207501 | CV3149284 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4800C>T | not provided [RCV003845194] | likely benign | 7 | 156791589 | 156791589 | Human | | name |
| 402504748 | CV3181494 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5285G>A | not provided [RCV003878328] | likely benign|uncertain significance | 7 | 156791104 | 156791104 | Human | | name |
| 405288660 | CV3193767 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4023A>T | LMBR1-related disorder [RCV003982773] | likely benign | 7 | 156792366 | 156792366 | Human | | name , trait , alternate_id |
| 405285645 | CV3209701 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4235G>T | LMBR1-related disorder [RCV003959270] | likely benign | 7 | 156792154 | 156792154 | Human | | name , trait , alternate_id |
| 405292895 | CV3210450 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4149G>A | LMBR1-related disorder [RCV003931414] | likely benign | 7 | 156792240 | 156792240 | Human | | name , trait , alternate_id |
| 405267662 | CV3219386 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4801A>G | SHH-related disorder [RCV004554453]|not provided [RCV005064898] | likely benign | 7 | 156791588 | 156791588 | Human | | name |
| 408372772 | CV3512547 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5055G>T | LMBR1-related disorder [RCV004743868] | uncertain significance | 7 | 156791334 | 156791334 | Human | | name , trait , alternate_id |
| 408373509 | CV3516078 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4260T>C | LMBR1-related disorder [RCV004745014] | uncertain significance | 7 | 156792129 | 156792129 | Human | | name , trait , alternate_id |
| 408383789 | CV3525842 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4917G>T | not specified [RCV004766752] | uncertain significance | 7 | 156791472 | 156791472 | Human | | name |
| 597840425 | CV3737174 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3792C>T | not provided [RCV005064654] | likely benign | 7 | 156792597 | 156792597 | Human | | name |
| 597919867 | CV3738010 | single nucleotide variant | NM_022458.4(LMBR1):c.423+3705A>G | not provided [RCV005074609] | likely benign | 7 | 156792684 | 156792684 | Human | | name |
| 597854723 | CV3747646 | duplication | NM_022458.4(LMBR1):c.423+3908dup | not provided [RCV005066657] | uncertain significance | 7 | 156792480 | 156792481 | Human | | name |
| 597967389 | CV3751823 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4664A>G | not provided [RCV005083193] | likely benign | 7 | 156791725 | 156791725 | Human | | name |
| 597847572 | CV3762058 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4924A>G | not provided [RCV005087476] | likely benign | 7 | 156791465 | 156791465 | Human | | name |
| 597969986 | CV3791702 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5087G>A | not provided [RCV005141519] | likely benign | 7 | 156791302 | 156791302 | Human | | name |
| 616939071 | CV4015399 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4914A>G | not provided [RCV005412910] | likely pathogenic | 7 | 156791475 | 156791475 | Human | | name |
| 12906954 | CV415092 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4545T>C | not provided [RCV000489851] | conflicting interpretations of pathogenicity|uncertain significance | 7 | 156791844 | 156791844 | Human | | name |
| 13537649 | CV501994 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5176A>G | not provided [RCV005091716]|not specified [RCV000610695] | benign|likely benign | 7 | 156791213 | 156791213 | Human | | name |
| 14711258 | CV662907 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5020C>G | not provided [RCV000827978] | benign|likely benign | 7 | 156791369 | 156791369 | Human | | name |
| 15158520 | CV699961 | single nucleotide variant | NM_022458.4(LMBR1):c.423+4516C>G | not provided [RCV000947088] | benign | 7 | 156791873 | 156791873 | Human | | name |
| 15165633 | CV710894 | single nucleotide variant | NM_022458.4(LMBR1):c.423+5311T>C | not provided [RCV003656089] | benign | 7 | 156791078 | 156791078 | Human | | name |
| 405239480 | CV2979798 | deletion | NM_022458.4(LMBR1):c.916-2_916del | not provided [RCV003683732] | likely pathogenic|uncertain significance | 7 | 156728007 | 156728009 | Human | | name |
| 150507111 | CV1211093 | deletion | NM_022458.4(LMBR1):c.66+77_66+83del | not provided [RCV001596211] | benign | 7 | 156892845 | 156892851 | Human | | name |
| 150455552 | CV1277810 | duplication | NM_022458.4(LMBR1):c.67-297_67-296dup | not provided [RCV001708987] | benign | 7 | 156837170 | 156837171 | Human | | name |
| 150486964 | CV1283713 | deletion | NM_022458.4(LMBR1):c.66+172_66+176del | not provided [RCV001715872] | benign | 7 | 156892752 | 156892756 | Human | | name |
| 156437679 | CV1947689 | single nucleotide variant | NM_022458.4(LMBR1):c.96C>T (p.Tyr32=) | not provided [RCV003107219] | likely benign | 7 | 156836856 | 156836856 | Human | | name |
| 156181740 | CV2288198 | single nucleotide variant | NM_022458.4(LMBR1):c.19G>A (p.Val7Met) | Inborn genetic diseases [RCV002873709] | uncertain significance | 7 | 156892975 | 156892975 | Human | 1 | name |
| 11602585 | CV305506 | single nucleotide variant | NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys) | Inborn genetic diseases [RCV002519504]|Polydactyly of a triphalangeal thumb [RCV000291723]|not provided [RCV000598270] | benign|likely benign|uncertain significance | 7 | 156892978 | 156892978 | Human | 2 | name |
| 11602663 | CV310431 | single nucleotide variant | NM_022458.4(LMBR1):c.204C>T (p.Leu68=) | Polydactyly of a triphalangeal thumb [RCV000292725] | likely benign|uncertain significance | 7 | 156826720 | 156826720 | Human | 1 | name |
| 597902360 | CV3804492 | single nucleotide variant | NM_022458.4(LMBR1):c.25G>A (p.Ala9Thr) | Inborn genetic diseases [RCV005358224]|not provided [RCV005152927] | uncertain significance | 7 | 156892969 | 156892969 | Human | 1 | name |
| 28871337 | CV897733 | single nucleotide variant | NM_022458.4(LMBR1):c.165C>T (p.Ile55=) | Polydactyly of a triphalangeal thumb [RCV001163918] | benign | 7 | 156833767 | 156833767 | Human | 1 | name |
| 150335842 | CV1164972 | duplication | NM_022458.4(LMBR1):c.684+142_684+156dup | not provided [RCV001530575] | likely benign | 7 | 156761976 | 156761977 | Human | | name |
| 150424324 | CV1183957 | duplication | NM_022458.4(LMBR1):c.684+142_684+155dup | not provided [RCV001556513] | likely benign | 7 | 156761976 | 156761977 | Human | | name |
| 150477053 | CV1203132 | duplication | NM_022458.4(LMBR1):c.684+142_684+146dup | not provided [RCV001589726] | likely benign | 7 | 156761976 | 156761977 | Human | | name |
| 150511138 | CV1213806 | duplication | NM_022458.4(LMBR1):c.684+142_684+154dup | not provided [RCV001597875] | benign | 7 | 156761976 | 156761977 | Human | | name |
| 150470605 | CV1219705 | duplication | NM_022458.4(LMBR1):c.684+142_684+143dup | not provided [RCV001615030] | benign | 7 | 156761976 | 156761977 | Human | | name |
| 150500296 | CV1224761 | microsatellite | NM_022458.4(LMBR1):c.619+272_619+275del | not provided [RCV001620593] | benign | 7 | 156762833 | 156762836 | Human | | name |
| 150506864 | CV1226450 | deletion | NM_022458.4(LMBR1):c.179+171_179+173del | not provided [RCV001635818] | benign | 7 | 156833580 | 156833582 | Human | | name |
| 11580868 | CV267812 | single nucleotide variant | NM_022458.4(LMBR1):c.843G>A (p.Arg281=) | Polydactyly of a triphalangeal thumb [RCV000347140]|not provided [RCV000375873] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 7 | 156728716 | 156728716 | Human | 1 | name |
| 11579375 | CV268089 | single nucleotide variant | NM_022458.4(LMBR1):c.528C>G (p.Ala176=) | Polydactyly of a triphalangeal thumb [RCV000302035]|not provided [RCV000955386]|not specified [RCV000274966] | benign|likely benign | 7 | 156763691 | 156763691 | Human | 1 | name |
| 405194887 | CV2925791 | single nucleotide variant | NM_022458.4(LMBR1):c.621G>A (p.Leu207=) | not provided [RCV003565260] | likely benign | 7 | 156762197 | 156762197 | Human | | name |
| 11594431 | CV302290 | single nucleotide variant | NM_022458.4(LMBR1):c.474G>A (p.Ala158=) | Polydactyly of a triphalangeal thumb [RCV000359191]|not provided [RCV002519503] | benign|likely benign | 7 | 156763745 | 156763745 | Human | 1 | name |
| 11582749 | CV302292 | single nucleotide variant | NM_022458.4(LMBR1):c.462T>G (p.Leu154=) | Polydactyly of a triphalangeal thumb [RCV000261847]|not provided [RCV005055930] | likely benign|uncertain significance | 7 | 156763757 | 156763757 | Human | 1 | name |
| 11596558 | CV302294 | single nucleotide variant | NM_022458.4(LMBR1):c.52G>T (p.Val18Leu) | Polydactyly of a triphalangeal thumb [RCV000383646] | likely benign|uncertain significance | 7 | 156892942 | 156892942 | Human | 1 | name |
| 11605449 | CV310313 | single nucleotide variant | NM_022458.4(LMBR1):c.435C>T (p.Ala145=) | Polydactyly of a triphalangeal thumb [RCV000319643] | benign|likely benign | 7 | 156763784 | 156763784 | Human | 1 | name |
| 11606433 | CV310335 | single nucleotide variant | NM_022458.4(LMBR1):c.61T>A (p.Ser21Thr) | Polydactyly of a triphalangeal thumb [RCV000331447]|not provided [RCV003736746] | benign|uncertain significance | 7 | 156892933 | 156892933 | Human | 1 | name |
| 11608321 | CV310408 | single nucleotide variant | NM_022458.4(LMBR1):c.432A>G (p.Arg144=) | LMBR1-related disorder [RCV003912539]|Polydactyly of a triphalangeal thumb [RCV000353427] | benign|likely benign | 7 | 156763787 | 156763787 | Human | 2 | name , trait , alternate_id |
| 11598878 | CV310415 | single nucleotide variant | NM_022458.4(LMBR1):c.357T>C (p.Cys119=) | Polydactyly of a triphalangeal thumb [RCV000260814]|not provided [RCV001636989] | benign | 7 | 156796455 | 156796455 | Human | 1 | name |
| 407470770 | CV3449175 | single nucleotide variant | NM_022458.4(LMBR1):c.67A>G (p.Ile23Val) | Inborn genetic diseases [RCV004637190] | uncertain significance | 7 | 156836885 | 156836885 | Human | 1 | name |
| 407470783 | CV3449180 | single nucleotide variant | NM_022458.4(LMBR1):c.61T>C (p.Ser21Pro) | Inborn genetic diseases [RCV004637194] | uncertain significance | 7 | 156892933 | 156892933 | Human | 1 | name |
| 597937985 | CV3760020 | single nucleotide variant | NM_022458.4(LMBR1):c.52G>A (p.Val18Met) | not provided [RCV005076944] | uncertain significance | 7 | 156892942 | 156892942 | Human | | name |
| 597872536 | CV3849516 | single nucleotide variant | NM_022458.4(LMBR1):c.450T>A (p.Thr150=) | not provided [RCV005197697] | likely benign | 7 | 156763769 | 156763769 | Human | | name |
| 598237893 | CV3981004 | single nucleotide variant | NM_022458.4(LMBR1):c.55C>T (p.Arg19Trp) | Inborn genetic diseases [RCV005364158] | uncertain significance | 7 | 156892939 | 156892939 | Human | 1 | name |
| 15161941 | CV750537 | single nucleotide variant | NM_022458.4(LMBR1):c.816A>G (p.Val272=) | not provided [RCV000925789] | likely benign | 7 | 156734199 | 156734199 | Human | | name |
| 15140865 | CV750538 | single nucleotide variant | NM_022458.4(LMBR1):c.384T>C (p.Phe128=) | not provided [RCV000921746] | likely benign | 7 | 156796428 | 156796428 | Human | | name |
| 28870628 | CV897731 | single nucleotide variant | NM_022458.4(LMBR1):c.627A>G (p.Thr209=) | Polydactyly of a triphalangeal thumb [RCV001163599] | uncertain significance | 7 | 156762191 | 156762191 | Human | 1 | name |
| 156183101 | CV2327946 | single nucleotide variant | NM_022458.4(LMBR1):c.205G>A (p.Ala69Thr) | Inborn genetic diseases [RCV002930534] | uncertain significance | 7 | 156826719 | 156826719 | Human | 1 | name |
| 11586710 | CV302285 | single nucleotide variant | NM_022458.4(LMBR1):c.1083C>T (p.Ser361=) | Polydactyly of a triphalangeal thumb [RCV000289958]|not provided [RCV002523588] | likely benign|uncertain significance | 7 | 156725510 | 156725510 | Human | 1 | name |
| 11607894 | CV310290 | single nucleotide variant | NM_022458.4(LMBR1):c.1095C>T (p.Gly365=) | Polydactyly of a triphalangeal thumb [RCV000348447]|not provided [RCV001712350] | benign | 7 | 156725498 | 156725498 | Human | 1 | name |
| 11611137 | CV310295 | single nucleotide variant | NM_022458.4(LMBR1):c.1092C>T (p.Val364=) | Polydactyly of a triphalangeal thumb [RCV000390574]|not provided [RCV001712545] | benign | 7 | 156725501 | 156725501 | Human | 1 | name |
| 11662783 | CV310429 | single nucleotide variant | NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu) | Polydactyly of a triphalangeal thumb [RCV000389440] | uncertain significance | 7 | 156826684 | 156826684 | Human | 1 | name |
| 405072509 | CV3140398 | single nucleotide variant | NM_022458.4(LMBR1):c.145C>T (p.Gln49Ter) | not provided [RCV003833553] | pathogenic|uncertain significance | 7 | 156833787 | 156833787 | Human | | name |
| 597701788 | CV3693273 | single nucleotide variant | NM_022458.4(LMBR1):c.144A>T (p.Glu48Asp) | Inborn genetic diseases [RCV004988137] | uncertain significance | 7 | 156833788 | 156833788 | Human | 1 | name |
| 597849676 | CV3793122 | single nucleotide variant | NM_022458.4(LMBR1):c.1095C>G (p.Gly365=) | not provided [RCV005145258] | likely benign | 7 | 156725498 | 156725498 | Human | | name |
| 597892916 | CV3833355 | single nucleotide variant | NM_022458.4(LMBR1):c.289A>G (p.Ile97Val) | not provided [RCV005180047] | uncertain significance | 7 | 156826635 | 156826635 | Human | | name |
| 598237899 | CV3981005 | single nucleotide variant | NM_022458.4(LMBR1):c.254A>G (p.Asn85Ser) | Inborn genetic diseases [RCV005364159] | uncertain significance | 7 | 156826670 | 156826670 | Human | 1 | name |
| 15195503 | CV766196 | single nucleotide variant | NM_022458.4(LMBR1):c.1293A>G (p.Val431=) | not provided [RCV000933956] | likely benign | 7 | 156688124 | 156688124 | Human | | name |
| 28906275 | CV897728 | single nucleotide variant | NM_022458.4(LMBR1):c.1233T>C (p.Thr411=) | Polydactyly of a triphalangeal thumb [RCV001158886] | likely benign | 7 | 156688184 | 156688184 | Human | 1 | name |
| 28908701 | CV897729 | single nucleotide variant | NM_022458.4(LMBR1):c.1026G>A (p.Thr342=) | Polydactyly of a triphalangeal thumb [RCV001160227] | benign | 7 | 156725805 | 156725805 | Human | 1 | name |
| 126912805 | CV1037768 | single nucleotide variant | NM_022458.4(LMBR1):c.535A>T (p.Met179Leu) | Inborn genetic diseases [RCV003169764]|not provided [RCV001356812] | uncertain significance | 7 | 156763684 | 156763684 | Human | 1 | name |
| 8647099 | CV106735 | single nucleotide variant | NM_022458.4(LMBR1):c.460C>A (p.Leu154Ile) | not provided [RCV000087237] | uncertain significance | 7 | 156763759 | 156763759 | Human | | name |
| 150542733 | CV1302688 | single nucleotide variant | NM_022458.4(LMBR1):c.748C>T (p.Arg250Ter) | not provided [RCV001761378] | uncertain significance | 7 | 156756402 | 156756402 | Human | | name |
| 151762330 | CV1369685 | single nucleotide variant | NM_022458.4(LMBR1):c.391C>G (p.Leu131Val) | not provided [RCV001928671] | uncertain significance | 7 | 156796421 | 156796421 | Human | | name |
| 151738325 | CV1437386 | single nucleotide variant | NM_022458.4(LMBR1):c.715A>G (p.Ile239Val) | Inborn genetic diseases [RCV004040480]|not provided [RCV001870758] | uncertain significance | 7 | 156756435 | 156756435 | Human | 1 | name |
| 156374263 | CV1932997 | single nucleotide variant | NM_022458.4(LMBR1):c.697C>G (p.Leu233Val) | not provided [RCV002633687] | uncertain significance | 7 | 156756453 | 156756453 | Human | | name |
| 10052843 | CV195414 | single nucleotide variant | NM_022458.4(LMBR1):c.453G>T (p.Leu151Phe) | Acheiropodia [RCV005396549]|not provided [RCV000179524] | uncertain significance | 7 | 156763766 | 156763766 | Human | 1 | name |
| 156174322 | CV2284250 | single nucleotide variant | NM_022458.4(LMBR1):c.787A>G (p.Met263Val) | Inborn genetic diseases [RCV002873284] | uncertain significance | 7 | 156734228 | 156734228 | Human | 1 | name |
| 155973143 | CV2335882 | single nucleotide variant | NM_022458.4(LMBR1):c.328A>C (p.Asn110His) | Inborn genetic diseases [RCV002973164] | uncertain significance | 7 | 156796484 | 156796484 | Human | 1 | name |
| 155928652 | CV2346781 | single nucleotide variant | NM_022458.4(LMBR1):c.698T>C (p.Leu233Pro) | Inborn genetic diseases [RCV002970394] | uncertain significance | 7 | 156756452 | 156756452 | Human | 1 | name |
| 243050014 | CV2417303 | single nucleotide variant | NM_022458.4(LMBR1):c.844C>T (p.Arg282Ter) | Acheiropodia [RCV005356370]|not provided [RCV003152175] | uncertain significance | 7 | 156728715 | 156728715 | Human | 1 | name |
| 401781827 | CV2678315 | single nucleotide variant | NM_022458.4(LMBR1):c.655G>A (p.Val219Met) | Inborn genetic diseases [RCV003265407] | uncertain significance | 7 | 156762163 | 156762163 | Human | 1 | name |
| 401718876 | CV2704845 | single nucleotide variant | NM_022458.4(LMBR1):c.494T>C (p.Val165Ala) | Inborn genetic diseases [RCV003266695] | uncertain significance | 7 | 156763725 | 156763725 | Human | 1 | name |
| 401931704 | CV2801403 | single nucleotide variant | NM_022458.4(LMBR1):c.631G>A (p.Val211Ile) | LMBR1-related disorder [RCV003408443] | uncertain significance | 7 | 156762187 | 156762187 | Human | | name , trait , alternate_id |
| 405137712 | CV2963200 | single nucleotide variant | NM_022458.4(LMBR1):c.500T>C (p.Val167Ala) | not provided [RCV003668879] | uncertain significance | 7 | 156763719 | 156763719 | Human | | name |
| 11589000 | CV302286 | single nucleotide variant | NM_022458.4(LMBR1):c.682A>G (p.Thr228Ala) | Polydactyly of a triphalangeal thumb [RCV000307548]|not provided [RCV001535352] | benign | 7 | 156762136 | 156762136 | Human | 1 | name |
| 11611485 | CV305505 | single nucleotide variant | NM_022458.4(LMBR1):c.770C>T (p.Ser257Leu) | Polydactyly of a triphalangeal thumb [RCV000395503] | benign|likely benign | 7 | 156734245 | 156734245 | Human | 1 | name |
| 11611488 | CV310307 | single nucleotide variant | NM_022458.4(LMBR1):c.529G>A (p.Ala177Thr) | Polydactyly of a triphalangeal thumb [RCV000395510] | uncertain significance | 7 | 156763690 | 156763690 | Human | 1 | name |
| 11608822 | CV310407 | single nucleotide variant | NM_022458.4(LMBR1):c.665A>C (p.Gln222Pro) | Polydactyly of a triphalangeal thumb [RCV000359894]|not provided [RCV001861301] | benign|uncertain significance | 7 | 156762153 | 156762153 | Human | 1 | name |
| 11606495 | CV310420 | single nucleotide variant | NM_022458.4(LMBR1):c.350A>G (p.Asn117Ser) | Inborn genetic diseases [RCV002523589]|Polydactyly of a triphalangeal thumb [RCV000332422]|not provided [RCV003546549] | likely benign|uncertain significance | 7 | 156796462 | 156796462 | Human | 2 | name |
| 405809558 | CV3287614 | single nucleotide variant | NM_022458.4(LMBR1):c.744G>C (p.Gln248His) | Inborn genetic diseases [RCV004407576] | uncertain significance | 7 | 156756406 | 156756406 | Human | 1 | name |
| 405809561 | CV3287615 | single nucleotide variant | NM_022458.4(LMBR1):c.833A>G (p.Lys278Arg) | Inborn genetic diseases [RCV004407577] | uncertain significance | 7 | 156734182 | 156734182 | Human | 1 | name |
| 407470768 | CV3449174 | single nucleotide variant | NM_022458.4(LMBR1):c.928C>G (p.Leu310Val) | Inborn genetic diseases [RCV004637189] | uncertain significance | 7 | 156727995 | 156727995 | Human | 1 | name |
| 407461055 | CV3449176 | single nucleotide variant | NM_022458.4(LMBR1):c.860C>T (p.Ala287Val) | Inborn genetic diseases [RCV004634027] | uncertain significance | 7 | 156728699 | 156728699 | Human | 1 | name |
| 408382371 | CV3504538 | single nucleotide variant | NM_022458.4(LMBR1):c.517G>A (p.Asp173Asn) | LMBR1-related disorder [RCV004729835] | uncertain significance | 7 | 156763702 | 156763702 | Human | | name , trait , alternate_id |
| 408375584 | CV3506436 | duplication | NM_022458.4(LMBR1):c.423+4584_423+4593dup | LMBR1-related disorder [RCV004726291] | uncertain significance | 7 | 156791795 | 156791796 | Human | | name , trait , alternate_id |
| 597701796 | CV3693275 | single nucleotide variant | NM_022458.4(LMBR1):c.706C>A (p.Gln236Lys) | Inborn genetic diseases [RCV004988138] | uncertain significance | 7 | 156756444 | 156756444 | Human | 1 | name |
| 597701802 | CV3693276 | single nucleotide variant | NM_022458.4(LMBR1):c.643C>T (p.Arg215Cys) | Inborn genetic diseases [RCV004988139] | uncertain significance | 7 | 156762175 | 156762175 | Human | 1 | name |
| 597862733 | CV3745222 | single nucleotide variant | NM_022458.4(LMBR1):c.472G>C (p.Ala158Pro) | not provided [RCV005067578] | uncertain significance | 7 | 156763747 | 156763747 | Human | | name |
| 597872306 | CV3836092 | single nucleotide variant | NM_022458.4(LMBR1):c.776A>C (p.Glu259Ala) | not provided [RCV005176889] | uncertain significance | 7 | 156734239 | 156734239 | Human | | name |
| 598237905 | CV3981006 | single nucleotide variant | NM_022458.4(LMBR1):c.317A>G (p.His106Arg) | Inborn genetic diseases [RCV005364160] | uncertain significance | 7 | 156826607 | 156826607 | Human | 1 | name |
| 598200581 | CV4007472 | single nucleotide variant | NM_022458.4(LMBR1):c.535A>G (p.Met179Val) | Acheiropodia [RCV005398302] | uncertain significance | 7 | 156763684 | 156763684 | Human | 1 | name |
| 28908704 | CV897730 | single nucleotide variant | NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu) | Polydactyly of a triphalangeal thumb [RCV001160228]|not provided [RCV005232138] | uncertain significance | 7 | 156728000 | 156728000 | Human | 1 | name |
| 28870631 | CV897732 | single nucleotide variant | NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys) | Polydactyly of a triphalangeal thumb [RCV001163600] | uncertain significance | 7 | 156763697 | 156763697 | Human | 1 | name |
| 150471956 | CV1270179 | insertion | NM_022458.4(LMBR1):c.1159-130_1159-129insC | not provided [RCV001695467] | benign | 7 | 156724307 | 156724308 | Human | | name |
| 151845152 | CV1501567 | single nucleotide variant | NM_022458.4(LMBR1):c.1390C>T (p.Leu464Phe) | not provided [RCV002015808] | uncertain significance | 7 | 156684161 | 156684161 | Human | | name |
| 156176984 | CV2205365 | single nucleotide variant | NM_022458.4(LMBR1):c.1415C>T (p.Thr472Ile) | Inborn genetic diseases [RCV002665069] | uncertain significance | 7 | 156684136 | 156684136 | Human | 1 | name |
| 156060185 | CV2317037 | single nucleotide variant | NM_022458.4(LMBR1):c.1298C>T (p.Ser433Phe) | Inborn genetic diseases [RCV002924999] | uncertain significance | 7 | 156688119 | 156688119 | Human | 1 | name |
| 156050719 | CV2336611 | single nucleotide variant | NM_022458.4(LMBR1):c.1408C>T (p.Pro470Ser) | Inborn genetic diseases [RCV002977773]|not provided [RCV003720703] | likely benign|uncertain significance | 7 | 156684143 | 156684143 | Human | 1 | name |
| 405181227 | CV2914128 | single nucleotide variant | NM_022458.4(LMBR1):c.1061T>G (p.Leu354Trp) | not provided [RCV003563987] | uncertain significance | 7 | 156725770 | 156725770 | Human | | name |
| 405040480 | CV2929880 | single nucleotide variant | NM_022458.4(LMBR1):c.1262G>C (p.Arg421Thr) | not provided [RCV003578996] | uncertain significance | 7 | 156688155 | 156688155 | Human | | name |
| 11650955 | CV302284 | single nucleotide variant | NM_022458.4(LMBR1):c.1111T>G (p.Phe371Val) | Polydactyly of a triphalangeal thumb [RCV000295917] | uncertain significance | 7 | 156725482 | 156725482 | Human | 1 | name |
| 11609851 | CV310284 | single nucleotide variant | NM_022458.4(LMBR1):c.1399C>G (p.Leu467Val) | Acheiropodia [RCV005398489]|Polydactyly of a triphalangeal thumb [RCV000373403] | benign|likely benign|uncertain significance | 7 | 156684152 | 156684152 | Human | 2 | name |
| 407470780 | CV3449179 | single nucleotide variant | NM_022458.4(LMBR1):c.1291G>A (p.Val431Ile) | Inborn genetic diseases [RCV004637193] | uncertain significance | 7 | 156688126 | 156688126 | Human | 1 | name |
| 597701779 | CV3693272 | single nucleotide variant | NM_022458.4(LMBR1):c.1308G>T (p.Leu436Phe) | Inborn genetic diseases [RCV004988136] | uncertain significance | 7 | 156688109 | 156688109 | Human | 1 | name |
| 598261048 | CV3981003 | single nucleotide variant | NM_022458.4(LMBR1):c.1307T>C (p.Leu436Ser) | Inborn genetic diseases [RCV005347752] | uncertain significance | 7 | 156688110 | 156688110 | Human | 1 | name |
| 151866126 | CV1495270 | microsatellite | NM_022458.4(LMBR1):c.147AGA[1] (p.Glu50del) | not provided [RCV001980736] | uncertain significance | 7 | 156833780 | 156833782 | Human | | name |
| 11639058 | CV265909 | microsatellite | NM_022458.4(LMBR1):c.180GTT[1] (p.Leu61del) | not provided [RCV000313355] | uncertain significance | 7 | 156826739 | 156826741 | Human | | name |
| 11612048 | CV310438 | microsatellite | NM_022458.3(LMBR1):c.-215_-214insCCCCGCCCCCG | Triphalangeal thumb-polysyndactyly syndrome [RCV000402824]|not provided [RCV001709631] | benign|likely benign | 7 | 156893207 | 156893208 | Human | | name |
| 150436172 | CV1234019 | insertion | NM_022458.4(LMBR1):c.179+169_179+170insTTTAGCACTGGT | not provided [RCV001644146] | benign | 7 | 156833583 | 156833584 | Human | | name |
| 401937704 | CV2796845 | indel | NM_022458.4(LMBR1):c.180_188delinsTGAACTGAGA (p.Leu61fs) | LMBR1-related disorder [RCV003416797] | uncertain significance | 7 | 156826736 | 156826744 | Human | | name , trait , alternate_id |
| 401747275 | CV2692111 | single nucleotide variant | NM_018113.4(LMBR1L):c.15C>A (p.Asp5Glu) | not specified [RCV004301821] | uncertain significance | 12 | 49110541 | 49110541 | Human | | name |
| 156399551 | CV2205186 | single nucleotide variant | NM_018113.4(LMBR1L):c.64G>C (p.Glu22Gln) | not specified [RCV004077778] | uncertain significance | 12 | 49110492 | 49110492 | Human | | name |
| 329363473 | CV2471653 | single nucleotide variant | NM_018113.4(LMBR1L):c.64G>A (p.Glu22Lys) | not specified [RCV004286941] | uncertain significance | 12 | 49110492 | 49110492 | Human | | name |
| 151732328 | CV1275452 | single nucleotide variant | NM_018113.4(LMBR1L):c.115A>G (p.Ile39Val) | DSD incomplete virilization [RCV001849544] | uncertain significance | 12 | 49107003 | 49107003 | Human | | name |
| 156044439 | CV2215930 | single nucleotide variant | NM_018113.4(LMBR1L):c.190G>A (p.Ala64Thr) | not specified [RCV004097009] | uncertain significance | 12 | 49105925 | 49105925 | Human | | name |
| 156316586 | CV2250929 | single nucleotide variant | NM_018113.4(LMBR1L):c.242T>G (p.Leu81Arg) | not specified [RCV004123510] | uncertain significance | 12 | 49104835 | 49104835 | Human | | name |
| 329387180 | CV2428415 | single nucleotide variant | NM_018113.4(LMBR1L):c.155C>T (p.Thr52Ile) | not specified [RCV004253216] | uncertain significance | 12 | 49106963 | 49106963 | Human | | name |
| 407461059 | CV3449182 | single nucleotide variant | NM_018113.4(LMBR1L):c.208T>C (p.Phe70Leu) | not specified [RCV004634028] | uncertain significance | 12 | 49104869 | 49104869 | Human | | name |
| 407470791 | CV3449184 | single nucleotide variant | NM_018113.4(LMBR1L):c.241C>T (p.Leu81Phe) | not specified [RCV004637196] | uncertain significance | 12 | 49104836 | 49104836 | Human | | name |
| 598237907 | CV3981008 | single nucleotide variant | NM_018113.4(LMBR1L):c.196G>A (p.Glu66Lys) | not specified [RCV005364161] | uncertain significance | 12 | 49104881 | 49104881 | Human | | name |
| 151732315 | CV1275450 | single nucleotide variant | NM_018113.4(LMBR1L):c.863G>A (p.Arg288Gln) | DSD incomplete virilization [RCV001849542] | likely pathogenic | 12 | 49102187 | 49102187 | Human | | name |
| 151732322 | CV1275451 | single nucleotide variant | NM_018113.4(LMBR1L):c.862C>T (p.Arg288Trp) | DSD incomplete virilization [RCV001849543] | likely pathogenic | 12 | 49102188 | 49102188 | Human | | name |
| 156277655 | CV2209933 | single nucleotide variant | NM_018113.4(LMBR1L):c.946A>G (p.Ile316Val) | not specified [RCV004076380] | uncertain significance | 12 | 49101534 | 49101534 | Human | | name |
| 156339668 | CV2271449 | single nucleotide variant | NM_018113.4(LMBR1L):c.434A>G (p.Lys145Arg) | not specified [RCV004136551] | uncertain significance | 12 | 49104449 | 49104449 | Human | | name |
| 329390821 | CV2455509 | single nucleotide variant | NM_018113.4(LMBR1L):c.359C>T (p.Ser120Phe) | not specified [RCV004276773] | uncertain significance | 12 | 49104524 | 49104524 | Human | | name |
| 329392130 | CV2470407 | single nucleotide variant | NM_018113.4(LMBR1L):c.719A>G (p.Gln240Arg) | not specified [RCV004273440] | uncertain significance | 12 | 49102518 | 49102518 | Human | | name |
| 401723347 | CV2674920 | single nucleotide variant | NM_018113.4(LMBR1L):c.947T>C (p.Ile316Thr) | not specified [RCV004296233] | uncertain significance | 12 | 49101533 | 49101533 | Human | | name |
| 401758119 | CV2731699 | single nucleotide variant | NM_018113.4(LMBR1L):c.667G>A (p.Val223Ile) | not specified [RCV004331802] | uncertain significance | 12 | 49102916 | 49102916 | Human | | name |
| 401880250 | CV2783145 | single nucleotide variant | NM_018113.4(LMBR1L):c.998G>A (p.Arg333Gln) | not specified [RCV004363495] | uncertain significance | 12 | 49101482 | 49101482 | Human | | name |
| 405809570 | CV3287619 | single nucleotide variant | NM_018113.4(LMBR1L):c.476T>C (p.Met159Thr) | not specified [RCV004407581] | uncertain significance | 12 | 49103773 | 49103773 | Human | | name |
| 405809572 | CV3287620 | single nucleotide variant | NM_018113.4(LMBR1L):c.757C>T (p.Arg253Cys) | not specified [RCV004407582] | uncertain significance | 12 | 49102480 | 49102480 | Human | | name |
| 405809574 | CV3287621 | single nucleotide variant | NM_018113.4(LMBR1L):c.925C>G (p.Leu309Val) | not specified [RCV004407583] | uncertain significance | 12 | 49102125 | 49102125 | Human | | name |
| 407470787 | CV3449181 | single nucleotide variant | NM_018113.4(LMBR1L):c.578A>G (p.Tyr193Cys) | not specified [RCV004637195] | uncertain significance | 12 | 49103144 | 49103144 | Human | | name |
| 407461063 | CV3449183 | single nucleotide variant | NM_018113.4(LMBR1L):c.389T>C (p.Phe130Ser) | not specified [RCV004634029] | uncertain significance | 12 | 49104494 | 49104494 | Human | | name |
| 597623157 | CV3693277 | single nucleotide variant | NM_018113.4(LMBR1L):c.971T>G (p.Leu324Arg) | not specified [RCV004936190] | uncertain significance | 12 | 49101509 | 49101509 | Human | | name |
| 597623160 | CV3693280 | single nucleotide variant | NM_018113.4(LMBR1L):c.560A>G (p.Tyr187Cys) | not specified [RCV004936193] | uncertain significance | 12 | 49103689 | 49103689 | Human | | name |
| 597623161 | CV3693281 | single nucleotide variant | NM_018113.4(LMBR1L):c.736T>A (p.Phe246Ile) | not specified [RCV004936194] | uncertain significance | 12 | 49102501 | 49102501 | Human | | name |
| 598261051 | CV3981010 | single nucleotide variant | NM_018113.4(LMBR1L):c.694C>T (p.Arg232Trp) | not specified [RCV005347753] | uncertain significance | 12 | 49102889 | 49102889 | Human | | name |
| 598261056 | CV3981011 | single nucleotide variant | NM_018113.4(LMBR1L):c.455A>G (p.Tyr152Cys) | not specified [RCV005347754] | uncertain significance | 12 | 49103794 | 49103794 | Human | | name |
| 598230472 | CV3981012 | single nucleotide variant | NM_018113.4(LMBR1L):c.985G>A (p.Ala329Thr) | not specified [RCV005362710] | uncertain significance | 12 | 49101495 | 49101495 | Human | | name |
| 156083978 | CV2205553 | single nucleotide variant | NM_018113.4(LMBR1L):c.1336C>T (p.Leu446Phe) | not specified [RCV004082481] | uncertain significance | 12 | 49098010 | 49098010 | Human | | name |
| 156257845 | CV2219926 | single nucleotide variant | NM_018113.4(LMBR1L):c.1103T>C (p.Val368Ala) | not specified [RCV004095551] | uncertain significance | 12 | 49100626 | 49100626 | Human | | name |
| 156062427 | CV2323244 | single nucleotide variant | NM_018113.4(LMBR1L):c.1156G>A (p.Asp386Asn) | not specified [RCV004187633] | uncertain significance | 12 | 49100573 | 49100573 | Human | | name |
| 156066651 | CV2345598 | single nucleotide variant | NM_018113.4(LMBR1L):c.1169C>T (p.Thr390Met) | not specified [RCV004205551] | uncertain significance | 12 | 49100560 | 49100560 | Human | | name |
| 156099230 | CV2378936 | single nucleotide variant | NM_018113.4(LMBR1L):c.1432G>A (p.Gly478Ser) | not specified [RCV004233369] | uncertain significance | 12 | 49097710 | 49097710 | Human | | name |
| 401885010 | CV2762893 | single nucleotide variant | NM_018113.4(LMBR1L):c.1378C>T (p.Arg460Trp) | not specified [RCV004342646] | uncertain significance | 12 | 49097968 | 49097968 | Human | | name |
| 401861307 | CV2779614 | single nucleotide variant | NM_018113.4(LMBR1L):c.1150T>A (p.Trp384Arg) | not specified [RCV004351320] | uncertain significance | 12 | 49100579 | 49100579 | Human | | name |
| 401894985 | CV2792652 | single nucleotide variant | NM_018113.4(LMBR1L):c.1414C>G (p.Leu472Val) | not specified [RCV004365441] | uncertain significance | 12 | 49097728 | 49097728 | Human | | name |
| 405809563 | CV3287616 | single nucleotide variant | NM_018113.4(LMBR1L):c.1209C>G (p.Ser403Arg) | not specified [RCV004407578] | uncertain significance | 12 | 49100419 | 49100419 | Human | | name |
| 405809565 | CV3287617 | single nucleotide variant | NM_018113.4(LMBR1L):c.1229C>T (p.Ser410Phe) | not specified [RCV004407579] | uncertain significance | 12 | 49100399 | 49100399 | Human | | name |
| 405809567 | CV3287618 | single nucleotide variant | NM_018113.4(LMBR1L):c.1437C>A (p.Phe479Leu) | not specified [RCV004407580] | uncertain significance | 12 | 49097705 | 49097705 | Human | | name |
| 597623158 | CV3693278 | single nucleotide variant | NM_018113.4(LMBR1L):c.1157A>C (p.Asp386Ala) | not specified [RCV004936191] | uncertain significance | 12 | 49100572 | 49100572 | Human | | name |
| 597623159 | CV3693279 | single nucleotide variant | NM_018113.4(LMBR1L):c.1160C>T (p.Thr387Ile) | not specified [RCV004936192] | uncertain significance | 12 | 49100569 | 49100569 | Human | | name |
| 598230465 | CV3981009 | single nucleotide variant | NM_018113.4(LMBR1L):c.1426G>A (p.Val476Ile) | not specified [RCV005362709] | uncertain significance | 12 | 49097716 | 49097716 | Human | | name |
| 598261061 | CV3981013 | single nucleotide variant | NM_018113.4(LMBR1L):c.1075C>T (p.Leu359Phe) | not specified [RCV005347755] | uncertain significance | 12 | 49101257 | 49101257 | Human | | name |
| 598237914 | CV3981014 | single nucleotide variant | NM_018113.4(LMBR1L):c.1045G>T (p.Gly349Cys) | not specified [RCV005364162] | uncertain significance | 12 | 49101287 | 49101287 | Human | | name |