| 11546585 | CV252772 | single nucleotide variant | NM_018947.6(CYCS):c.-6T>G | Thrombocytopenia 4 [RCV000999969]|not provided [RCV001722335]|not specified [RCV000246652] | benign|likely benign | 7 | 25124125 | 25124125 | Human | 1 | name |
| 11594620 | CV302732 | single nucleotide variant | NM_018947.5(CYCS):c.-80T>C | Thrombocytopenia [RCV000361089] | uncertain significance | 7 | 25125271 | 25125271 | Human | 1 | name |
| 11650451 | CV302711 | single nucleotide variant | NM_018947.5(CYCS):c.*950A>G | Thrombocytopenia [RCV000292869] | uncertain significance | 7 | 25122751 | 25122751 | Human | 1 | name |
| 11597534 | CV302712 | single nucleotide variant | NM_018947.5(CYCS):c.*401A>G | Thrombocytopenia [RCV000395167] | likely benign | 7 | 25123300 | 25123300 | Human | 1 | name |
| 11608039 | CV306060 | single nucleotide variant | NM_018947.5(CYCS):c.*537C>T | Thrombocytopenia [RCV000350170] | uncertain significance | 7 | 25123164 | 25123164 | Human | 1 | name |
| 11607461 | CV306061 | single nucleotide variant | NM_018947.5(CYCS):c.*248T>A | Thrombocytopenia [RCV000343898] | uncertain significance | 7 | 25123453 | 25123453 | Human | 1 | name |
| 11650229 | CV310805 | single nucleotide variant | NM_018947.5(CYCS):c.*385G>C | Thrombocytopenia [RCV000291305] | uncertain significance | 7 | 25123316 | 25123316 | Human | 1 | name |
| 11611842 | CV310807 | single nucleotide variant | NM_018947.5(CYCS):c.-128A>G | Thrombocytopenia [RCV000400143] | uncertain significance | 7 | 25125319 | 25125319 | Human | 1 | name |
| 11652150 | CV311026 | single nucleotide variant | NM_018947.5(CYCS):c.-148G>A | Thrombocytopenia [RCV000302777] | uncertain significance | 7 | 25125339 | 25125339 | Human | 1 | name |
| 126732494 | CV1020353 | single nucleotide variant | NM_018947.6(CYCS):c.170-3T>C | Thrombocytopenia 4 [RCV001334033] | uncertain significance | 7 | 25123852 | 25123852 | Human | 1 | name |
| 405227242 | CV2892638 | single nucleotide variant | NM_018947.6(CYCS):c.170-6G>C | not provided [RCV003554780] | likely benign | 7 | 25123855 | 25123855 | Human | | name |
| 405142916 | CV2958703 | single nucleotide variant | NM_018947.6(CYCS):c.169+7G>A | not provided [RCV003673294] | likely benign | 7 | 25123944 | 25123944 | Human | | name |
| 11661189 | CV302627 | single nucleotide variant | NM_018947.5(CYCS):c.*4818C>T | Thrombocytopenia [RCV000374024] | uncertain significance | 7 | 25118883 | 25118883 | Human | 1 | name |
| 11662740 | CV302630 | single nucleotide variant | NM_018947.5(CYCS):c.*4642G>A | Thrombocytopenia [RCV000388939] | uncertain significance | 7 | 25119059 | 25119059 | Human | 1 | name |
| 11644495 | CV302634 | single nucleotide variant | NM_018947.5(CYCS):c.*3614A>G | Thrombocytopenia [RCV000259900] | uncertain significance | 7 | 25120087 | 25120087 | Human | 1 | name |
| 11591980 | CV302637 | single nucleotide variant | NM_018947.5(CYCS):c.*3613T>C | Thrombocytopenia [RCV000333790] | likely benign | 7 | 25120088 | 25120088 | Human | 1 | name |
| 11650166 | CV302638 | single nucleotide variant | NM_018947.5(CYCS):c.*3379C>T | Thrombocytopenia [RCV000291209] | uncertain significance | 7 | 25120322 | 25120322 | Human | 1 | name |
| 11586080 | CV302639 | deletion | NM_018947.6(CYCS):c.*3282del | Thrombocytopenia [RCV000285309] | uncertain significance | 7 | 25120419 | 25120419 | Human | 2 | name |
| 11663268 | CV302664 | single nucleotide variant | NM_018947.5(CYCS):c.*3024A>T | Thrombocytopenia [RCV000394037] | uncertain significance | 7 | 25120677 | 25120677 | Human | 1 | name |
| 11587979 | CV302666 | single nucleotide variant | NM_018947.5(CYCS):c.*2801T>C | Thrombocytopenia [RCV000299086] | uncertain significance | 7 | 25120900 | 25120900 | Human | 1 | name |
| 11584985 | CV302667 | single nucleotide variant | NM_018947.5(CYCS):c.*2776C>G | Thrombocytopenia [RCV000277764] | likely benign | 7 | 25120925 | 25120925 | Human | 1 | name |
| 11661970 | CV302680 | single nucleotide variant | NM_018947.5(CYCS):c.*2435G>A | Thrombocytopenia [RCV000381333] | uncertain significance | 7 | 25121266 | 25121266 | Human | 1 | name |
| 11596276 | CV302681 | single nucleotide variant | NM_018947.5(CYCS):c.*2290G>A | Thrombocytopenia [RCV000380166] | likely benign | 7 | 25121411 | 25121411 | Human | 1 | name |
| 11585665 | CV302687 | single nucleotide variant | NM_018947.5(CYCS):c.*2186G>A | Thrombocytopenia [RCV000282475] | likely benign | 7 | 25121515 | 25121515 | Human | 1 | name |
| 11591992 | CV302688 | single nucleotide variant | NM_018947.5(CYCS):c.*2139A>T | Thrombocytopenia [RCV000334554] | likely benign | 7 | 25121562 | 25121562 | Human | 1 | name |
| 11663606 | CV302690 | single nucleotide variant | NM_018947.5(CYCS):c.*2123A>T | Thrombocytopenia [RCV000397341] | uncertain significance | 7 | 25121578 | 25121578 | Human | 1 | name |
| 11653641 | CV302692 | single nucleotide variant | NM_018947.6(CYCS):c.*1839C>T | Thrombocytopenia [RCV000312064] | uncertain significance | 7 | 25121862 | 25121862 | Human | 2 | name |
| 11598136 | CV302694 | single nucleotide variant | NM_018947.5(CYCS):c.*1758C>T | Thrombocytopenia [RCV000401794] | likely benign | 7 | 25121943 | 25121943 | Human | 1 | name |
| 11594336 | CV302700 | deletion | NM_018947.6(CYCS):c.*1622del | Thrombocytopenia [RCV000358070] | uncertain significance | 7 | 25122079 | 25122079 | Human | 2 | name |
| 11591782 | CV302701 | single nucleotide variant | NM_018947.5(CYCS):c.*1279A>T | Thrombocytopenia [RCV000332529] | uncertain significance | 7 | 25122422 | 25122422 | Human | 1 | name |
| 11654255 | CV305996 | single nucleotide variant | NM_018947.5(CYCS):c.*4686C>G | Thrombocytopenia [RCV000315789] | uncertain significance | 7 | 25119015 | 25119015 | Human | 1 | name |
| 11611463 | CV306001 | single nucleotide variant | NM_018947.5(CYCS):c.*4408A>C | Thrombocytopenia [RCV000395478] | uncertain significance | 7 | 25119293 | 25119293 | Human | 1 | name |
| 11650118 | CV306004 | single nucleotide variant | NM_018947.5(CYCS):c.*4358G>C | Thrombocytopenia [RCV000291048] | uncertain significance | 7 | 25119343 | 25119343 | Human | 1 | name |
| 11611703 | CV306005 | single nucleotide variant | NM_018947.5(CYCS):c.*4109T>A | Thrombocytopenia [RCV000398487] | likely benign | 7 | 25119592 | 25119592 | Human | 1 | name |
| 11606362 | CV306011 | single nucleotide variant | NM_018947.5(CYCS):c.*3495G>T | Thrombocytopenia [RCV000330396] | likely benign | 7 | 25120206 | 25120206 | Human | 1 | name |
| 11610696 | CV306012 | single nucleotide variant | NM_018947.5(CYCS):c.*3495G>A | Thrombocytopenia [RCV000384957] | uncertain significance | 7 | 25120206 | 25120206 | Human | 1 | name |
| 11662022 | CV306013 | single nucleotide variant | NM_018947.5(CYCS):c.*3319C>T | Thrombocytopenia [RCV000382046] | uncertain significance | 7 | 25120382 | 25120382 | Human | 1 | name |
| 11663855 | CV306016 | single nucleotide variant | NM_018947.5(CYCS):c.*2804C>T | Thrombocytopenia [RCV000400049] | uncertain significance | 7 | 25120897 | 25120897 | Human | 1 | name |
| 11609593 | CV306023 | single nucleotide variant | NM_018947.5(CYCS):c.*2799T>G | Thrombocytopenia [RCV000370212] | uncertain significance | 7 | 25120902 | 25120902 | Human | 1 | name |
| 11653640 | CV306025 | single nucleotide variant | NM_018947.5(CYCS):c.*2763T>C | Thrombocytopenia [RCV000312039] | uncertain significance | 7 | 25120938 | 25120938 | Human | 1 | name |
| 11646683 | CV306026 | single nucleotide variant | NM_018947.5(CYCS):c.*2502T>C | Thrombocytopenia [RCV000272024] | uncertain significance | 7 | 25121199 | 25121199 | Human | 1 | name |
| 11604170 | CV306027 | single nucleotide variant | NM_018947.5(CYCS):c.*1718T>C | Thrombocytopenia [RCV000306671] | likely benign | 7 | 25121983 | 25121983 | Human | 2 | name |
| 11604170 | CV306027 | single nucleotide variant | NM_018947.5(CYCS):c.*1718T>C | Thrombocytopenia [RCV000306671] | likely benign | 7 | 25121983 | 25121984 | Human | 2 | name |
| 11605339 | CV306056 | single nucleotide variant | NM_018947.5(CYCS):c.*1343A>G | Thrombocytopenia [RCV000318352] | uncertain significance | 7 | 25122358 | 25122358 | Human | 1 | name |
| 11610007 | CV306057 | single nucleotide variant | NM_018947.5(CYCS):c.*1310G>C | Thrombocytopenia [RCV000375341] | uncertain significance | 7 | 25122391 | 25122391 | Human | 1 | name |
| 11601120 | CV306058 | single nucleotide variant | NM_018947.5(CYCS):c.*1294A>G | Thrombocytopenia [RCV000279832] | likely benign | 7 | 25122407 | 25122407 | Human | 1 | name |
| 11608843 | CV310716 | single nucleotide variant | NM_018947.6(CYCS):c.*5013T>C | Thrombocytopenia [RCV000360562] | uncertain significance | 7 | 25118688 | 25118688 | Human | 2 | name |
| 11605562 | CV310718 | single nucleotide variant | NM_018947.5(CYCS):c.*4850G>C | Thrombocytopenia [RCV000321082] | likely benign | 7 | 25118851 | 25118851 | Human | 1 | name |
| 11602842 | CV310720 | deletion | NM_018947.6(CYCS):c.*4524del | Thrombocytopenia [RCV000294582] | uncertain significance | 7 | 25119177 | 25119177 | Human | 2 | name |
| 11607986 | CV310725 | single nucleotide variant | NM_018947.5(CYCS):c.*4516C>T | Thrombocytopenia [RCV000349542] | likely benign | 7 | 25119185 | 25119185 | Human | 2 | name |
| 11607986 | CV310725 | single nucleotide variant | NM_018947.5(CYCS):c.*4516C>T | Thrombocytopenia [RCV000349542] | likely benign | 7 | 25119185 | 25119186 | Human | 2 | name |
| 11604182 | CV310728 | single nucleotide variant | NM_018947.5(CYCS):c.*4158A>T | Thrombocytopenia [RCV000306774] | uncertain significance | 7 | 25119543 | 25119543 | Human | 1 | name |
| 11608908 | CV310733 | single nucleotide variant | NM_018947.5(CYCS):c.*4136A>G | Thrombocytopenia [RCV000361488] | likely benign | 7 | 25119565 | 25119565 | Human | 1 | name |
| 11608425 | CV310734 | single nucleotide variant | NM_018947.5(CYCS):c.*3615G>A | Thrombocytopenia [RCV000354743] | likely benign | 7 | 25120086 | 25120086 | Human | 1 | name |
| 11600633 | CV310744 | single nucleotide variant | NM_018947.5(CYCS):c.*3576T>C | Thrombocytopenia [RCV000275268] | uncertain significance | 7 | 25120125 | 25120125 | Human | 1 | name |
| 11607457 | CV310751 | single nucleotide variant | NM_018947.5(CYCS):c.*3330G>T | Thrombocytopenia [RCV000343820] | uncertain significance | 7 | 25120371 | 25120371 | Human | 1 | name |
| 11603740 | CV310753 | single nucleotide variant | NM_018947.5(CYCS):c.*2951A>G | Thrombocytopenia [RCV000302823] | likely benign | 7 | 25120750 | 25120750 | Human | 1 | name |
| 11606249 | CV310760 | single nucleotide variant | NM_018947.5(CYCS):c.*2455A>G | Thrombocytopenia [RCV000329455] | uncertain significance | 7 | 25121246 | 25121246 | Human | 1 | name |
| 11600042 | CV310762 | single nucleotide variant | NM_018947.5(CYCS):c.*2332T>C | Thrombocytopenia [RCV000270417] | likely benign | 7 | 25121369 | 25121369 | Human | 1 | name |
| 11655137 | CV310766 | single nucleotide variant | NM_018947.5(CYCS):c.*2297C>G | Thrombocytopenia [RCV000323249] | uncertain significance | 7 | 25121404 | 25121404 | Human | 1 | name |
| 11601586 | CV310782 | single nucleotide variant | NM_018947.5(CYCS):c.*2222C>T | Thrombocytopenia [RCV000283457] | likely benign | 7 | 25121479 | 25121479 | Human | 1 | name |
| 11657391 | CV310784 | single nucleotide variant | NM_018947.5(CYCS):c.*2216C>G | Thrombocytopenia [RCV000340829] | uncertain significance | 7 | 25121485 | 25121485 | Human | 1 | name |
| 11609970 | CV310789 | single nucleotide variant | NM_018947.5(CYCS):c.*2187C>T | Thrombocytopenia [RCV000374541] | likely benign | 7 | 25121514 | 25121514 | Human | 1 | name |
| 11634684 | CV310795 | duplication | NM_018947.6(CYCS):c.*1678dup | Thrombocytopenia [RCV000266625] | likely benign | 7 | 25122022 | 25122023 | Human | 2 | name |
| 11645497 | CV310796 | single nucleotide variant | NM_018947.5(CYCS):c.*1427A>C | Thrombocytopenia [RCV000265680] | uncertain significance | 7 | 25122274 | 25122274 | Human | 1 | name |
| 11611041 | CV310797 | single nucleotide variant | NM_018947.5(CYCS):c.*1109G>A | Thrombocytopenia [RCV000389470] | uncertain significance | 7 | 25122592 | 25122592 | Human | 1 | name |
| 11658103 | CV310990 | single nucleotide variant | NM_018947.5(CYCS):c.*4209A>T | Thrombocytopenia [RCV000346383] | uncertain significance | 7 | 25119492 | 25119492 | Human | 1 | name |
| 11611063 | CV310992 | single nucleotide variant | NM_018947.5(CYCS):c.*4208G>C | Thrombocytopenia [RCV000390123] | uncertain significance | 7 | 25119493 | 25119493 | Human | 1 | name |
| 11603775 | CV310997 | single nucleotide variant | NM_018947.5(CYCS):c.*4038G>C | Thrombocytopenia [RCV000303218] | uncertain significance | 7 | 25119663 | 25119663 | Human | 1 | name |
| 11608659 | CV310998 | single nucleotide variant | NM_018947.5(CYCS):c.*4012G>A | Thrombocytopenia [RCV000357991] | likely benign | 7 | 25119689 | 25119689 | Human | 1 | name |
| 11599165 | CV310999 | single nucleotide variant | NM_018947.5(CYCS):c.*3972C>T | Thrombocytopenia [RCV000263220] | likely benign | 7 | 25119729 | 25119729 | Human | 1 | name |
| 11603437 | CV311006 | single nucleotide variant | NM_018947.5(CYCS):c.*3826C>T | Thrombocytopenia [RCV000299861] | uncertain significance | 7 | 25119875 | 25119875 | Human | 1 | name |
| 11610961 | CV311014 | deletion | NM_018947.6(CYCS):c.*3610del | Thrombocytopenia [RCV000388375] | likely benign | 7 | 25120091 | 25120091 | Human | 2 | name |
| 11607341 | CV311018 | single nucleotide variant | NM_018947.5(CYCS):c.*3142C>A | Thrombocytopenia [RCV000342488] | likely benign | 7 | 25120559 | 25120559 | Human | 1 | name |
| 11656853 | CV311019 | single nucleotide variant | NM_018947.5(CYCS):c.*2838C>G | Thrombocytopenia [RCV000336690] | uncertain significance | 7 | 25120863 | 25120863 | Human | 1 | name |
| 11653799 | CV311020 | single nucleotide variant | NM_018947.5(CYCS):c.*2025G>A | Thrombocytopenia [RCV000313401] | uncertain significance | 7 | 25121676 | 25121676 | Human | 1 | name |
| 11608196 | CV311023 | single nucleotide variant | NM_018947.5(CYCS):c.*1880C>T | Thrombocytopenia [RCV000351924] | uncertain significance | 7 | 25121821 | 25121821 | Human | 1 | name |
| 11611683 | CV311024 | single nucleotide variant | NM_018947.5(CYCS):c.*1864C>G | Thrombocytopenia [RCV000398357] | uncertain significance | 7 | 25121837 | 25121837 | Human | 1 | name |
| 11609161 | CV311025 | single nucleotide variant | NM_018947.5(CYCS):c.*1783G>A | Thrombocytopenia [RCV000364530] | uncertain significance | 7 | 25121918 | 25121918 | Human | 1 | name |
| 402465094 | CV3177106 | single nucleotide variant | NM_018947.6(CYCS):c.170-16A>G | not provided [RCV003872737] | likely benign | 7 | 25123865 | 25123865 | Human | | name |
| 11585236 | CV302629 | deletion | NM_018947.6(CYCS):c.*4723_*4725del | Thrombocytopenia [RCV000279455] | likely benign | 7 | 25118976 | 25118978 | Human | 2 | name |
| 11660665 | CV302677 | deletion | NM_018947.6(CYCS):c.*2563_*2564del | Thrombocytopenia [RCV000369026] | uncertain significance | 7 | 25121137 | 25121138 | Human | 2 | name |
| 11635562 | CV306034 | duplication | NM_018947.6(CYCS):c.*1702_*1705dup | Thrombocytopenia [RCV000363755] | likely benign | 7 | 25121995 | 25121996 | Human | 2 | name |
| 11635267 | CV310790 | duplication | NM_018947.6(CYCS):c.*1676_*1678dup | Thrombocytopenia [RCV000324078] | uncertain significance | 7 | 25122022 | 25122023 | Human | 2 | name |
| 11599461 | CV310979 | deletion | NM_018947.6(CYCS):c.*5004_*5005del | Thrombocytopenia [RCV000265943] | uncertain significance | 7 | 25118696 | 25118697 | Human | 2 | name |
| 597947660 | CV3771733 | single nucleotide variant | NM_018947.6(CYCS):c.18A>G (p.Lys6=) | not provided [RCV005120258] | likely benign | 7 | 25124102 | 25124102 | Human | | name |
| 156437521 | CV1947527 | single nucleotide variant | NM_018947.6(CYCS):c.75C>G (p.Gly25=) | not provided [RCV003107060] | likely benign | 7 | 25124045 | 25124045 | Human | | name |
| 405239027 | CV2983264 | single nucleotide variant | NM_018947.6(CYCS):c.7G>T (p.Asp3Tyr) | not provided [RCV003683616] | uncertain significance | 7 | 25124113 | 25124113 | Human | | name |
| 156446855 | CV1948218 | single nucleotide variant | NM_018947.6(CYCS):c.204T>C (p.Tyr68=) | not provided [RCV003118374] | likely benign | 7 | 25123815 | 25123815 | Human | | name |
| 156268493 | CV2026755 | single nucleotide variant | NM_018947.6(CYCS):c.108C>G (p.Leu36=) | not provided [RCV002746556] | likely benign | 7 | 25124012 | 25124012 | Human | | name |
| 156129355 | CV2125064 | single nucleotide variant | NM_018947.6(CYCS):c.177C>T (p.Ile59=) | not provided [RCV002953819] | likely benign | 7 | 25123842 | 25123842 | Human | | name |
| 405154332 | CV2950717 | single nucleotide variant | NM_018947.6(CYCS):c.216C>T (p.Pro72=) | not provided [RCV003670268] | likely benign | 7 | 25123803 | 25123803 | Human | | name |
| 405244523 | CV3050650 | single nucleotide variant | NM_018947.6(CYCS):c.252C>T (p.Val84=) | not provided [RCV003720008] | likely benign | 7 | 25123767 | 25123767 | Human | | name |
| 11611479 | CV306062 | single nucleotide variant | NM_018947.6(CYCS):c.147C>T (p.Tyr49=) | Thrombocytopenia [RCV000395161]|not provided [RCV003766066] | likely benign|uncertain significance | 7 | 25123973 | 25123973 | Human | 2 | name |
| 405215713 | CV3124553 | single nucleotide variant | NM_018947.6(CYCS):c.249T>C (p.Phe83=) | not provided [RCV003823915] | likely benign | 7 | 25123770 | 25123770 | Human | | name |
| 405111914 | CV3133534 | single nucleotide variant | NM_018947.6(CYCS):c.279A>G (p.Ala93=) | not provided [RCV003836327] | likely benign | 7 | 25123740 | 25123740 | Human | | name |
| 597920427 | CV3738078 | single nucleotide variant | NM_018947.6(CYCS):c.153C>T (p.Ala51=) | not provided [RCV005074677] | likely benign | 7 | 25123967 | 25123967 | Human | | name |
| 597940294 | CV3788589 | single nucleotide variant | NM_018947.6(CYCS):c.222G>A (p.Lys74=) | not provided [RCV005133264] | likely benign | 7 | 25123797 | 25123797 | Human | | name |
| 150408669 | CV1200164 | single nucleotide variant | NM_018947.6(CYCS):c.79C>T (p.His27Tyr) | Thrombocytopenia 4 [RCV001580209]|not provided [RCV003688943] | pathogenic|likely pathogenic|uncertain significance | 7 | 25124041 | 25124041 | Human | 1 | name |
| 151815378 | CV1463408 | single nucleotide variant | NM_018947.6(CYCS):c.39G>T (p.Met13Ile) | not provided [RCV001900360] | uncertain significance | 7 | 25124081 | 25124081 | Human | | name |
| 152155404 | CV1668352 | single nucleotide variant | NM_018947.6(CYCS):c.97C>G (p.Leu33Val) | Thrombocytopenia 4 [RCV002222149]|not provided [RCV003774641] | uncertain significance | 7 | 25124023 | 25124023 | Human | 1 | name |
| 152981084 | CV1676359 | single nucleotide variant | NM_018947.6(CYCS):c.94A>C (p.Asn32His) | Thrombocytopenia 4 [RCV002245436] | uncertain significance | 7 | 25124026 | 25124026 | Human | 1 | name |
| 152981087 | CV1676361 | single nucleotide variant | NM_018947.6(CYCS):c.62T>G (p.Val21Gly) | Thrombocytopenia 4 [RCV002245438] | uncertain significance | 7 | 25124058 | 25124058 | Human | 1 | name |
| 152981089 | CV1676362 | single nucleotide variant | NM_018947.6(CYCS):c.59C>T (p.Thr20Ile) | Thrombocytopenia 4 [RCV002245439] | uncertain significance | 7 | 25124061 | 25124061 | Human | 1 | name |
| 156169873 | CV2133522 | single nucleotide variant | NM_018947.6(CYCS):c.39G>C (p.Met13Ile) | not provided [RCV003005352] | uncertain significance | 7 | 25124081 | 25124081 | Human | | name |
| 402467217 | CV2910394 | single nucleotide variant | NM_018947.6(CYCS):c.28A>G (p.Ile10Val) | not provided [RCV003569625] | uncertain significance | 7 | 25124092 | 25124092 | Human | | name |
| 597921303 | CV3852139 | single nucleotide variant | NM_018947.6(CYCS):c.317A>G (p.Ter106=) | not provided [RCV005205119] | likely benign | 7 | 25123702 | 25123702 | Human | | name |
| 155266105 | CV1696208 | single nucleotide variant | NM_018947.6(CYCS):c.290C>A (p.Ala97Asp) | Thrombocytopenia 4 [RCV002280982] | likely pathogenic | 7 | 25123729 | 25123729 | Human | 1 | name |
| 155642847 | CV1706422 | single nucleotide variant | NM_018947.6(CYCS):c.292T>C (p.Tyr98His) | Thrombocytopenia 4 [RCV002287278] | uncertain significance | 7 | 25123727 | 25123727 | Human | 1 | name |
| 9831468 | CV178822 | single nucleotide variant | NM_018947.6(CYCS):c.145T>C (p.Tyr49His) | Thrombocytopenia 4 [RCV000157619] | pathogenic | 7 | 25123975 | 25123975 | Human | 1 | name |
| 156189041 | CV1997959 | single nucleotide variant | NM_018947.6(CYCS):c.142T>C (p.Ser48Pro) | not provided [RCV002643256] | uncertain significance | 7 | 25123978 | 25123978 | Human | | name |
| 156179382 | CV2062312 | single nucleotide variant | NM_018947.6(CYCS):c.268G>A (p.Glu90Lys) | not provided [RCV002828253] | uncertain significance | 7 | 25123751 | 25123751 | Human | | name |
| 401912215 | CV2795971 | single nucleotide variant | NM_018947.6(CYCS):c.295C>T (p.Leu99Phe) | CYCS-related disorder [RCV003399707] | likely pathogenic | 7 | 25123724 | 25123724 | Human | | name , trait , alternate_id |
| 405086318 | CV2862200 | single nucleotide variant | NM_018947.6(CYCS):c.158A>G (p.Asn53Ser) | not provided [RCV003549590] | uncertain significance | 7 | 25123962 | 25123962 | Human | | name |
| 405230221 | CV2964321 | single nucleotide variant | NM_018947.6(CYCS):c.164A>G (p.Asn55Ser) | not provided [RCV003682125] | uncertain significance | 7 | 25123956 | 25123956 | Human | | name |
| 405046851 | CV3071712 | single nucleotide variant | NM_018947.6(CYCS):c.172A>G (p.Ile58Val) | not provided [RCV003740316] | uncertain significance | 7 | 25123847 | 25123847 | Human | | name |
| 8565916 | CV31956 | single nucleotide variant | NM_018947.6(CYCS):c.124G>A (p.Gly42Ser) | Thrombocytopenia 4 [RCV000018419]|Thrombocytopenia [RCV000851585] | pathogenic|likely pathogenic | 7 | 25123996 | 25123996 | Human | 3 | name |
| 408383702 | CV3507128 | single nucleotide variant | NM_018947.6(CYCS):c.219G>T (p.Lys73Asn) | CYCS-related disorder [RCV004730824] | uncertain significance | 7 | 25123800 | 25123800 | Human | | name , trait , alternate_id |
| 597935764 | CV3777544 | single nucleotide variant | NM_018947.6(CYCS):c.152C>G (p.Ala51Gly) | not provided [RCV005132457] | uncertain significance | 7 | 25123968 | 25123968 | Human | | name |
| 597931463 | CV3789475 | single nucleotide variant | NM_018947.6(CYCS):c.289G>A (p.Ala97Thr) | not provided [RCV005131756] | uncertain significance | 7 | 25123730 | 25123730 | Human | | name |
| 21069491 | CV796023 | single nucleotide variant | NM_018947.6(CYCS):c.154G>A (p.Ala52Thr) | Thrombocytopenia 4 [RCV002245830]|not provided [RCV000998778] | uncertain significance | 7 | 25123966 | 25123966 | Human | 1 | name |
| 21405022 | CV801087 | single nucleotide variant | NM_018947.6(CYCS):c.295C>G (p.Leu99Val) | Thrombocytopenia [RCV001003904] | likely pathogenic | 7 | 25123724 | 25123724 | Human | 2 | name |
| 40903189 | CV976756 | single nucleotide variant | NM_018947.6(CYCS):c.155C>T (p.Ala52Val) | Abnormal bleeding [RCV001270600] | likely pathogenic | 7 | 25123965 | 25123965 | Human | 2 | name |
| 150547975 | CV1303941 | single nucleotide variant | NM_018947.6(CYCS):c.317A>C (p.Ter106Ser) | not provided [RCV001764044] | uncertain significance | 7 | 25123702 | 25123702 | Human | | name |
| 14975865 | CV615419 | single nucleotide variant | NM_018947.6(CYCS):c.308C>T (p.Thr103Ile) | Thrombocytopenia 4 [RCV002280891]|Thrombocytopenia [RCV000852107]|not provided [RCV005092219] | likely pathogenic|uncertain significance | 7 | 25123711 | 25123711 | Human | 3 | name |
| 14349768 | CV590721 | deletion | NM_018947.6(CYCS):c.301_303del (p.Lys101del) | Thrombocytopenia 4 [RCV000736012] | pathogenic | 7 | 25123716 | 25123718 | Human | 1 | name |
| 405215979 | CV2977953 | deletion | NM_018947.6(CYCS):c.258_260del (p.Ile86_Lys87delinsMet) | not provided [RCV003709321] | uncertain significance | 7 | 25123759 | 25123761 | Human | | name |
| 405181249 | CV2914132 | deletion | NM_018947.6(CYCS):c.302_304del (p.Lys101_Ala102delinsThr) | not provided [RCV003563989] | uncertain significance | 7 | 25123715 | 25123717 | Human | | name |