| 10044317 | CV188133 | single nucleotide variant | RIT1, PHE82VAL | Noonan syndrome 8 [RCV000170492] | pathogenic | | | | Human | | name |
| 8572565 | CV75094 | single nucleotide variant | RIT1, GLU81GLY | Noonan syndrome 8 [RCV000054405] | pathogenic | | | | Human | | name |
| 8572566 | CV75095 | single nucleotide variant | RIT1, PHE82LEU | Noonan syndrome 8 [RCV000054406] | pathogenic | | | | Human | | name |
| 156434764 | CV2403103 | single nucleotide variant | NM_006912.6(RIT1):c.*9T>C | not provided [RCV003127059] | likely benign | 1 | 155900379 | 155900379 | Human | | name |
| 11094716 | CV228267 | single nucleotide variant | NM_006912.6(RIT1):c.-21G>C | Noonan syndrome 8 [RCV001795347]|not provided [RCV000589936]|not specified [RCV000221405] | benign | 1 | 155910782 | 155910782 | Human | 1 | name |
| 13541542 | CV498099 | single nucleotide variant | NM_006912.6(RIT1):c.-30G>A | not specified [RCV000616306] | likely benign | 1 | 155910791 | 155910791 | Human | | name |
| 13797524 | CV552498 | single nucleotide variant | NM_006912.6(RIT1):c.-91T>G | not provided [RCV000681292] | likely benign | 1 | 155911290 | 155911290 | Human | | name |
| 150452868 | CV1203680 | single nucleotide variant | NM_006912.6(RIT1):c.163+6C>A | Noonan syndrome 8 [RCV001591636] | uncertain significance | 1 | 155910444 | 155910444 | Human | 1 | name |
| 151859463 | CV1403585 | duplication | NM_006912.6(RIT1):c.238-2dup | Noonan syndrome 8 [RCV001979937] | uncertain significance | 1 | 155904503 | 155904504 | Human | 1 | name |
| 9833432 | CV178910 | single nucleotide variant | NM_006912.6(RIT1):c.430-7C>T | Noonan syndrome 8 [RCV001513007]|not provided [RCV000590610]|not specified [RCV000179468] | benign | 1 | 155900625 | 155900625 | Human | 1 | name |
| 156047258 | CV2144259 | single nucleotide variant | NM_006912.6(RIT1):c.164-5T>C | Noonan syndrome 8 [RCV002999751] | likely benign | 1 | 155904809 | 155904809 | Human | 1 | name |
| 156331791 | CV2181118 | single nucleotide variant | NM_006912.6(RIT1):c.429+9A>G | Noonan syndrome 8 [RCV003047261] | likely benign | 1 | 155904302 | 155904302 | Human | 1 | name |
| 405091438 | CV2916639 | single nucleotide variant | NM_006912.6(RIT1):c.238-9T>A | Noonan syndrome 8 [RCV003582911] | likely benign | 1 | 155904511 | 155904511 | Human | 1 | name |
| 405058873 | CV2944221 | single nucleotide variant | NM_006912.6(RIT1):c.107-9C>A | Noonan syndrome 8 [RCV003741402] | likely benign | 1 | 155910515 | 155910515 | Human | 1 | name |
| 405059052 | CV2947809 | single nucleotide variant | NM_006912.6(RIT1):c.107-6T>G | Noonan syndrome 8 [RCV003741416] | likely benign | 1 | 155910512 | 155910512 | Human | 1 | name |
| 405213123 | CV3127593 | single nucleotide variant | NM_006912.6(RIT1):c.237+9T>C | Noonan syndrome 8 [RCV003823641] | likely benign | 1 | 155904722 | 155904722 | Human | 1 | name |
| 597905733 | CV3826625 | single nucleotide variant | NM_006912.6(RIT1):c.164-6C>T | Noonan syndrome 8 [RCV005180758] | likely benign | 1 | 155904810 | 155904810 | Human | 1 | name |
| 597926610 | CV3853899 | single nucleotide variant | NM_006912.6(RIT1):c.164-5T>A | Noonan syndrome 8 [RCV005201182] | uncertain significance | 1 | 155904809 | 155904809 | Human | 1 | name |
| 13436052 | CV433891 | single nucleotide variant | NM_006912.6(RIT1):c.163+7C>T | not specified [RCV000506483] | benign | 1 | 155910443 | 155910443 | Human | | name |
| 13531723 | CV498063 | single nucleotide variant | NM_006912.6(RIT1):c.237+8A>G | not specified [RCV000601141] | likely benign | 1 | 155904723 | 155904723 | Human | | name |
| 15097687 | CV689631 | single nucleotide variant | NM_006912.6(RIT1):c.107-9C>G | Noonan syndrome 8 [RCV000869511]|RIT1-related disorder [RCV003895303]|not provided [RCV001593088]|not specified [RCV001201325] | benign|likely benign | 1 | 155910515 | 155910515 | Human | 1 | name , trait , alternate_id |
| 15188091 | CV774387 | single nucleotide variant | NM_006912.6(RIT1):c.430-5T>C | Noonan syndrome 8 [RCV002542252]|not specified [RCV004782604] | likely benign|uncertain significance | 1 | 155900623 | 155900623 | Human | 1 | name |
| 26913191 | CV850933 | single nucleotide variant | NM_006912.6(RIT1):c.163+5G>T | Noonan syndrome 8 [RCV001039884] | uncertain significance | 1 | 155910445 | 155910445 | Human | 1 | name |
| 150406818 | CV1175760 | single nucleotide variant | NM_006912.6(RIT1):c.238-32G>A | not provided [RCV001545382] | likely benign | 1 | 155904534 | 155904534 | Human | | name |
| 150485228 | CV1262051 | single nucleotide variant | NM_006912.6(RIT1):c.163+82A>G | not provided [RCV001686742] | benign | 1 | 155910368 | 155910368 | Human | | name |
| 150474406 | CV1263357 | single nucleotide variant | NM_006912.6(RIT1):c.164-52C>T | not provided [RCV001684879] | benign | 1 | 155904856 | 155904856 | Human | | name |
| 150460191 | CV1268458 | single nucleotide variant | NM_006912.6(RIT1):c.237+31G>A | not provided [RCV001693455] | benign | 1 | 155904700 | 155904700 | Human | | name |
| 150445926 | CV1278234 | single nucleotide variant | NM_006912.6(RIT1):c.106+56A>G | not provided [RCV001707377] | benign | 1 | 155910600 | 155910600 | Human | | name |
| 152110684 | CV1537029 | single nucleotide variant | NM_006912.6(RIT1):c.237+14G>C | Noonan syndrome 8 [RCV002215442] | likely benign | 1 | 155904717 | 155904717 | Human | 1 | name |
| 152121746 | CV1547629 | single nucleotide variant | NM_006912.6(RIT1):c.164-11C>T | Noonan syndrome 8 [RCV002081646] | likely benign | 1 | 155904815 | 155904815 | Human | 1 | name |
| 152138612 | CV1572306 | single nucleotide variant | NM_006912.6(RIT1):c.163+12C>A | Noonan syndrome 8 [RCV002219071] | likely benign | 1 | 155910438 | 155910438 | Human | 1 | name |
| 152074803 | CV1599278 | single nucleotide variant | NM_006912.6(RIT1):c.238-19G>A | Noonan syndrome 8 [RCV002075584] | likely benign | 1 | 155904521 | 155904521 | Human | 1 | name |
| 152105499 | CV1622914 | single nucleotide variant | NM_006912.6(RIT1):c.238-16C>T | Noonan syndrome 8 [RCV002214750] | likely benign | 1 | 155904518 | 155904518 | Human | 1 | name |
| 152071489 | CV1643440 | single nucleotide variant | NM_006912.6(RIT1):c.429+20T>C | Noonan syndrome 8 [RCV002111512] | likely benign | 1 | 155904291 | 155904291 | Human | 1 | name |
| 9833433 | CV178912 | single nucleotide variant | NM_006912.6(RIT1):c.-43-74G>A | Noonan syndrome 8 [RCV005394545]|not specified [RCV000601244] | likely benign|uncertain significance | 1 | 155910878 | 155910878 | Human | 1 | name |
| 156377910 | CV1876591 | single nucleotide variant | NM_006912.6(RIT1):c.430-16C>T | Noonan syndrome 8 [RCV003066898] | likely benign | 1 | 155900634 | 155900634 | Human | 1 | name |
| 156251754 | CV1883826 | single nucleotide variant | NM_006912.6(RIT1):c.429+15G>A | Noonan syndrome 8 [RCV003086127] | likely benign | 1 | 155904296 | 155904296 | Human | 1 | name |
| 156158094 | CV1926363 | single nucleotide variant | NM_006912.6(RIT1):c.107-12C>T | Noonan syndrome 8 [RCV002624258] | likely benign | 1 | 155910518 | 155910518 | Human | 1 | name |
| 156445851 | CV1952097 | single nucleotide variant | NM_006912.6(RIT1):c.237+18G>A | Noonan syndrome 8 [RCV003116812] | likely benign | 1 | 155904713 | 155904713 | Human | 1 | name |
| 156066367 | CV1971715 | single nucleotide variant | NM_006912.6(RIT1):c.430-18C>T | Noonan syndrome 8 [RCV002621112] | likely benign | 1 | 155900636 | 155900636 | Human | 1 | name |
| 155912926 | CV2081398 | single nucleotide variant | NM_006912.6(RIT1):c.163+17C>G | Noonan syndrome 8 [RCV002858619] | likely benign | 1 | 155910433 | 155910433 | Human | 1 | name |
| 156196555 | CV2083139 | single nucleotide variant | NM_006912.6(RIT1):c.430-18C>A | Noonan syndrome 8 [RCV002852314] | likely benign | 1 | 155900636 | 155900636 | Human | 1 | name |
| 156129086 | CV2125053 | single nucleotide variant | NM_006912.6(RIT1):c.163+16A>C | Noonan syndrome 8 [RCV002953808] | likely benign | 1 | 155910434 | 155910434 | Human | 1 | name |
| 156392889 | CV2185333 | single nucleotide variant | NM_006912.6(RIT1):c.163+12C>T | Noonan syndrome 8 [RCV003051520] | likely benign | 1 | 155910438 | 155910438 | Human | 1 | name |
| 405086207 | CV2875778 | single nucleotide variant | NM_006912.6(RIT1):c.237+11C>A | Noonan syndrome 8 [RCV003582479] | likely benign | 1 | 155904720 | 155904720 | Human | 1 | name |
| 405063989 | CV2988066 | single nucleotide variant | NM_006912.6(RIT1):c.237+19T>A | Noonan syndrome 8 [RCV003741823] | likely benign | 1 | 155904712 | 155904712 | Human | 1 | name |
| 405065654 | CV2998070 | single nucleotide variant | NM_006912.6(RIT1):c.164-18C>G | Noonan syndrome 8 [RCV003741956] | likely benign | 1 | 155904822 | 155904822 | Human | 1 | name |
| 405252271 | CV3177877 | single nucleotide variant | NM_006912.6(RIT1):c.163+10A>G | Noonan syndrome 8 [RCV003870657]|not specified [RCV004801421] | likely benign|uncertain significance | 1 | 155910440 | 155910440 | Human | 1 | name |
| 405270802 | CV3219811 | single nucleotide variant | NM_006912.6(RIT1):c.-43-86T>C | RIT1-related disorder [RCV003971542] | likely benign | 1 | 155910890 | 155910890 | Human | | name , trait , alternate_id |
| 405281494 | CV3224163 | single nucleotide variant | NM_006912.6(RIT1):c.238-12G>C | Noonan syndrome 8 [RCV005103162]|not specified [RCV003988545] | likely benign | 1 | 155904514 | 155904514 | Human | 1 | name |
| 12841872 | CV364448 | single nucleotide variant | NM_006912.6(RIT1):c.-43-18T>C | not specified [RCV000433356] | likely benign | 1 | 155910822 | 155910822 | Human | | name |
| 597858655 | CV3788343 | duplication | NM_006912.6(RIT1):c.430-11dup | Noonan syndrome 8 [RCV005133018] | benign | 1 | 155900628 | 155900629 | Human | 1 | name |
| 597887140 | CV3818002 | single nucleotide variant | NM_006912.6(RIT1):c.164-10C>T | Noonan syndrome 8 [RCV005162453] | likely benign | 1 | 155904814 | 155904814 | Human | 1 | name |
| 597922902 | CV3849533 | single nucleotide variant | NM_006912.6(RIT1):c.163+17C>T | Noonan syndrome 8 [RCV005197714] | likely benign | 1 | 155910433 | 155910433 | Human | 1 | name |
| 598127793 | CV3882886 | single nucleotide variant | NM_006912.6(RIT1):c.106+16C>T | Noonan syndrome 8 [RCV005234418] | likely benign | 1 | 155910640 | 155910640 | Human | 1 | name |
| 13483046 | CV447226 | single nucleotide variant | NM_006912.6(RIT1):c.237+10C>A | Noonan syndrome 8 [RCV001085363]|not provided [RCV000587028]|not specified [RCV000604079] | benign|likely benign | 1 | 155904721 | 155904721 | Human | 1 | name |
| 13537039 | CV498065 | single nucleotide variant | NM_006912.6(RIT1):c.106+15C>T | Noonan syndrome 8 [RCV002066874]|not specified [RCV000609839] | benign|likely benign | 1 | 155910641 | 155910641 | Human | 1 | name |
| 13541174 | CV498093 | deletion | NM_006912.6(RIT1):c.237+12del | Noonan syndrome 8 [RCV002064280]|not specified [RCV000615784] | likely benign | 1 | 155904719 | 155904719 | Human | 1 | name |
| 13796676 | CV552497 | single nucleotide variant | NM_006912.6(RIT1):c.-44+82C>T | not provided [RCV000680695] | benign | 1 | 155911161 | 155911161 | Human | | name |
| 15107825 | CV695004 | single nucleotide variant | NM_006912.6(RIT1):c.106+10A>G | Noonan syndrome 8 [RCV001409878] | likely benign | 1 | 155910646 | 155910646 | Human | 1 | name |
| 150333497 | CV1170594 | single nucleotide variant | NM_006912.6(RIT1):c.429+178T>G | not provided [RCV001539525] | likely benign | 1 | 155904133 | 155904133 | Human | | name |
| 150404407 | CV1192715 | single nucleotide variant | NM_006912.6(RIT1):c.429+150G>T | not provided [RCV001571135] | likely benign | 1 | 155904161 | 155904161 | Human | | name |
| 150513766 | CV1213879 | single nucleotide variant | NM_006912.6(RIT1):c.163+219T>G | not provided [RCV001598615] | likely benign | 1 | 155910231 | 155910231 | Human | | name |
| 13796837 | CV552490 | single nucleotide variant | NM_006912.6(RIT1):c.429+142T>C | not provided [RCV000680799] | benign | 1 | 155904169 | 155904169 | Human | | name |
| 13796996 | CV552495 | single nucleotide variant | NM_006912.6(RIT1):c.163+233C>G | not provided [RCV000680917] | benign | 1 | 155910217 | 155910217 | Human | | name |
| 13796779 | CV552496 | duplication | NM_006912.6(RIT1):c.-43-166dup | not provided [RCV000680750] | benign | 1 | 155910963 | 155910964 | Human | | name |
| 8574918 | CV109257 | single nucleotide variant | NM_006912.5(RIT1):c.164-2531C>T | Lung cancer [RCV000089782] | uncertain significance | 1 | 155907335 | 155907335 | Human | | name |
| 13796722 | CV552493 | microsatellite | NM_006912.6(RIT1):c.237+90CT[2] | not provided [RCV000680720] | likely benign | 1 | 155904636 | 155904637 | Human | | name |
| 405074138 | CV3047695 | single nucleotide variant | NM_006912.6(RIT1):c.18C>T (p.Arg6=) | Cardiovascular phenotype [RCV004661740]|Noonan syndrome 8 [RCV003742587] | likely benign | 1 | 155910744 | 155910744 | Human | 1 | name |
| 151820703 | CV1365349 | single nucleotide variant | NM_006912.6(RIT1):c.4G>A (p.Asp2Asn) | Noonan syndrome 8 [RCV001879186] | uncertain significance | 1 | 155910758 | 155910758 | Human | 1 | name |
| 151861416 | CV1369331 | single nucleotide variant | NM_006912.6(RIT1):c.7T>G (p.Ser3Ala) | Noonan syndrome 8 [RCV002034404] | uncertain significance | 1 | 155910755 | 155910755 | Human | 1 | name |
| 152061274 | CV1597178 | single nucleotide variant | NM_006912.6(RIT1):c.99G>A (p.Gly33=) | Cardiovascular phenotype [RCV002382472]|Noonan syndrome 8 [RCV002208680] | likely benign | 1 | 155910663 | 155910663 | Human | 1 | name |
| 152114895 | CV1640855 | single nucleotide variant | NM_006912.6(RIT1):c.72A>G (p.Leu24=) | Noonan syndrome 8 [RCV002117048] | likely benign | 1 | 155910690 | 155910690 | Human | 1 | name |
| 156441897 | CV1941550 | single nucleotide variant | NM_006912.6(RIT1):c.93T>C (p.Gly31=) | Noonan syndrome 8 [RCV003112230] | likely benign | 1 | 155910669 | 155910669 | Human | 1 | name |
| 405075889 | CV2901372 | single nucleotide variant | NM_006912.6(RIT1):c.48T>C (p.Ala16=) | Noonan syndrome 8 [RCV003581445] | likely benign | 1 | 155910714 | 155910714 | Human | 1 | name |
| 405066669 | CV2992968 | deletion | NM_006912.6(RIT1):c.107-13_107-10del | Noonan syndrome 8 [RCV003742034] | likely benign | 1 | 155910516 | 155910519 | Human | 1 | name |
| 405069017 | CV3013938 | single nucleotide variant | NM_006912.6(RIT1):c.45C>T (p.Pro15=) | Noonan syndrome 8 [RCV003742230]|not provided [RCV004723427] | likely benign | 1 | 155910717 | 155910717 | Human | 1 | name |
| 405213906 | CV3169947 | duplication | NM_006912.6(RIT1):c.164-27_164-17dup | Noonan syndrome 8 [RCV003862551] | likely benign | 1 | 155904820 | 155904821 | Human | 1 | name |
| 597959500 | CV3752328 | duplication | NM_006912.6(RIT1):c.163+16_163+18dup | Noonan syndrome 8 [RCV005081278] | likely benign | 1 | 155910431 | 155910432 | Human | 1 | name |
| 597855365 | CV3789785 | deletion | NM_006912.6(RIT1):c.237+15_237+50del | Noonan syndrome 8 [RCV005129880] | uncertain significance | 1 | 155904681 | 155904716 | Human | 1 | name |
| 597874053 | CV3813246 | single nucleotide variant | NM_006912.6(RIT1):c.33C>T (p.Cys11=) | Noonan syndrome 8 [RCV005149182] | likely benign | 1 | 155910729 | 155910729 | Human | 1 | name |
| 597903603 | CV3822996 | deletion | NM_006912.6(RIT1):c.164-21_164-16del | Noonan syndrome 8 [RCV005178322] | uncertain significance | 1 | 155904820 | 155904825 | Human | 1 | name |
| 13536193 | CV496143 | single nucleotide variant | NM_006912.6(RIT1):c.45C>G (p.Pro15=) | Cardiovascular phenotype [RCV002341540]|Noonan syndrome 8 [RCV002062142]|Noonan syndrome and Noonan-related syndrome [RCV001813515]|not provided [RCV001562383]|not specified [RCV000608640] | likely benign|uncertain significance | 1 | 155910717 | 155910717 | Human | 1 | name |
| 151848648 | CV1362255 | single nucleotide variant | NM_006912.6(RIT1):c.10G>C (p.Gly4Arg) | Noonan syndrome 8 [RCV001937057] | uncertain significance | 1 | 155910752 | 155910752 | Human | 1 | name |
| 151800798 | CV1373186 | single nucleotide variant | NM_006912.6(RIT1):c.11G>A (p.Gly4Glu) | Cardiovascular phenotype [RCV004656689]|Noonan syndrome 8 [RCV001932288] | uncertain significance | 1 | 155910751 | 155910751 | Human | 1 | name |
| 152073924 | CV1638094 | single nucleotide variant | NM_006912.6(RIT1):c.291C>A (p.Ile97=) | Cardiovascular phenotype [RCV002441271]|Noonan syndrome 8 [RCV002192161] | likely benign | 1 | 155904449 | 155904449 | Human | 1 | name |
| 155730201 | CV1780753 | single nucleotide variant | NM_006912.6(RIT1):c.264G>A (p.Gln88=) | Cardiovascular phenotype [RCV004656919]|Noonan syndrome 8 [RCV003099108]|not specified [RCV002308537] | likely benign | 1 | 155904476 | 155904476 | Human | 1 | name |
| 155679326 | CV1810834 | single nucleotide variant | NM_006912.6(RIT1):c.120G>A (p.Gln40=) | Cardiovascular phenotype [RCV002353182]|Noonan syndrome 8 [RCV003108040] | likely benign | 1 | 155910493 | 155910493 | Human | 1 | name |
| 155732691 | CV1834077 | single nucleotide variant | NM_006912.6(RIT1):c.162T>A (p.Ile54=) | Cardiovascular phenotype [RCV002401261]|Noonan syndrome 8 [RCV003097036] | likely benign|uncertain significance | 1 | 155910451 | 155910451 | Human | 1 | name |
| 155696329 | CV1840992 | single nucleotide variant | NM_006912.6(RIT1):c.108C>T (p.Ala36=) | Cardiovascular phenotype [RCV002443887]|Noonan syndrome 8 [RCV003581868] | likely benign | 1 | 155910505 | 155910505 | Human | 1 | name |
| 155706499 | CV1850941 | single nucleotide variant | NM_006912.6(RIT1):c.22G>T (p.Val8Phe) | Cardiovascular phenotype [RCV002446313]|Noonan syndrome 8 [RCV003741315] | uncertain significance | 1 | 155910740 | 155910740 | Human | 1 | name |
| 156442404 | CV1938630 | single nucleotide variant | NM_006912.6(RIT1):c.261C>T (p.Asp87=) | Noonan syndrome 8 [RCV003112745] | likely benign | 1 | 155904479 | 155904479 | Human | 1 | name |
| 156408702 | CV1954485 | single nucleotide variant | NM_006912.6(RIT1):c.17G>C (p.Arg6Pro) | Noonan syndrome 8 [RCV002586590] | uncertain significance | 1 | 155910745 | 155910745 | Human | 1 | name |
| 155997463 | CV2045338 | single nucleotide variant | NM_006912.6(RIT1):c.258G>A (p.Arg86=) | Noonan syndrome 8 [RCV002756034] | likely benign | 1 | 155904482 | 155904482 | Human | 1 | name |
| 11542319 | CV249417 | single nucleotide variant | NM_006912.6(RIT1):c.252C>T (p.Ala84=) | Cardiovascular phenotype [RCV003372672]|Noonan syndrome 8 [RCV002058000]|not specified [RCV000247487] | likely benign | 1 | 155904488 | 155904488 | Human | 1 | name |
| 405063963 | CV2987975 | single nucleotide variant | NM_006912.6(RIT1):c.14C>T (p.Thr5Ile) | Noonan syndrome 8 [RCV003741821] | uncertain significance | 1 | 155910748 | 155910748 | Human | 1 | name |
| 405053590 | CV3058901 | single nucleotide variant | NM_006912.6(RIT1):c.273G>A (p.Arg91=) | Cardiovascular phenotype [RCV004661751]|Noonan syndrome 8 [RCV003740850] | likely benign | 1 | 155904467 | 155904467 | Human | 1 | name |
| 405054221 | CV3063818 | single nucleotide variant | NM_006912.6(RIT1):c.23T>C (p.Val8Ala) | Noonan syndrome 8 [RCV003740770]|RIT1-related disorder [RCV003909118] | uncertain significance | 1 | 155910739 | 155910739 | Human | 1 | name , trait , alternate_id |
| 405279806 | CV3217424 | deletion | NM_006912.6(RIT1):c.-43-106_-43-88del | RIT1-related disorder [RCV003976843]|not specified [RCV004801428] | likely benign | 1 | 155910892 | 155910910 | Human | 1 | name , trait , alternate_id |
| 405680550 | CV3390460 | single nucleotide variant | NM_006912.6(RIT1):c.204T>C (p.Pro68=) | Cardiovascular phenotype [RCV004517224] | likely benign | 1 | 155904764 | 155904764 | Human | | name |
| 408390945 | CV3521118 | single nucleotide variant | NM_006912.6(RIT1):c.22G>A (p.Val8Ile) | not provided [RCV004762940] | uncertain significance | 1 | 155910740 | 155910740 | Human | | name |
| 12839806 | CV364439 | single nucleotide variant | NM_006912.6(RIT1):c.141A>G (p.Pro47=) | Noonan syndrome 8 [RCV005090876]|not provided [RCV000429516] | likely benign | 1 | 155910472 | 155910472 | Human | 1 | name |
| 597864568 | CV3795204 | single nucleotide variant | NM_006912.6(RIT1):c.246T>C (p.Phe82=) | Noonan syndrome 8 [RCV005138896] | likely benign | 1 | 155904494 | 155904494 | Human | 1 | name |
| 597907503 | CV3829838 | single nucleotide variant | NM_006912.6(RIT1):c.159C>T (p.Thr53=) | Noonan syndrome 8 [RCV005182407] | likely benign | 1 | 155910454 | 155910454 | Human | 1 | name |
| 597901988 | CV3835530 | single nucleotide variant | NM_006912.6(RIT1):c.285G>A (p.Gly95=) | Noonan syndrome 8 [RCV005176522] | likely benign | 1 | 155904455 | 155904455 | Human | 1 | name |
| 597913294 | CV3847684 | single nucleotide variant | NM_006912.6(RIT1):c.156C>A (p.Pro52=) | Noonan syndrome 8 [RCV005188412] | likely benign | 1 | 155910457 | 155910457 | Human | 1 | name |
| 616937355 | CV4011002 | single nucleotide variant | NM_006912.6(RIT1):c.129C>T (p.Ser43=) | not specified [RCV005404846] | likely benign | 1 | 155910484 | 155910484 | Human | | name |
| 14736485 | CV626900 | single nucleotide variant | NM_006912.6(RIT1):c.13A>T (p.Thr5Ser) | Cardiovascular phenotype [RCV002390686]|Noonan syndrome 8 [RCV000820043] | uncertain significance | 1 | 155910749 | 155910749 | Human | 1 | name |
| 15103938 | CV685571 | single nucleotide variant | NM_006912.6(RIT1):c.231T>C (p.Ala77=) | Cardiovascular phenotype [RCV002442854]|Noonan syndrome 8 [RCV003344099]|RIT1-related disorder [RCV004745625] | likely benign | 1 | 155904737 | 155904737 | Human | 1 | name , trait , alternate_id |
| 15182537 | CV696148 | single nucleotide variant | NM_006912.6(RIT1):c.156C>T (p.Pro52=) | Cardiovascular phenotype [RCV002400108]|Noonan syndrome 8 [RCV003346225]|not provided [RCV000952241] | likely benign | 1 | 155910457 | 155910457 | Human | 1 | name |
| 15113634 | CV745727 | single nucleotide variant | NM_006912.6(RIT1):c.201G>A (p.Glu67=) | Cardiovascular phenotype [RCV005268811]|Noonan syndrome 8 [RCV005092732] | likely benign | 1 | 155904767 | 155904767 | Human | 1 | name |
| 127240991 | CV1066293 | single nucleotide variant | NM_006912.6(RIT1):c.498A>C (p.Ala166=) | Cardiovascular phenotype [RCV002341899]|Noonan syndrome 8 [RCV001415665]|RIT1-related disorder [RCV004746376]|not provided [RCV001788471] | likely benign | 1 | 155900550 | 155900550 | Human | 1 | name , trait , alternate_id |
| 127306446 | CV1109548 | single nucleotide variant | NM_006912.6(RIT1):c.321T>C (p.Ser107=) | Noonan syndrome 8 [RCV001455523] | likely benign | 1 | 155904419 | 155904419 | Human | 1 | name |
| 127303585 | CV1130449 | single nucleotide variant | NM_006912.6(RIT1):c.603C>T (p.Asn201=) | Noonan syndrome 8 [RCV001479278] | likely benign | 1 | 155900445 | 155900445 | Human | 1 | name |
| 150418014 | CV1192716 | single nucleotide variant | NM_006912.6(RIT1):c.309G>A (p.Thr103=) | Noonan syndrome 8 [RCV002568450]|not provided [RCV001569023] | likely benign|uncertain significance | 1 | 155904431 | 155904431 | Human | 1 | name |
| 150516928 | CV1227367 | duplication | NM_006912.6(RIT1):c.-43-166_-43-165dup | not provided [RCV001639468] | benign | 1 | 155910963 | 155910964 | Human | | name |
| 151862600 | CV1409096 | single nucleotide variant | NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr) | Noonan syndrome 8 [RCV001905488] | uncertain significance | 1 | 155910727 | 155910727 | Human | 1 | name |
| 151721058 | CV1494629 | single nucleotide variant | NM_006912.6(RIT1):c.510T>C (p.Tyr170=) | Cardiovascular phenotype [RCV003170192]|Noonan syndrome 8 [RCV001965984] | likely benign | 1 | 155900538 | 155900538 | Human | 1 | name |
| 152055707 | CV1539033 | single nucleotide variant | NM_006912.6(RIT1):c.552G>A (p.Arg184=) | Noonan syndrome 8 [RCV002208054] | likely benign | 1 | 155900496 | 155900496 | Human | 1 | name |
| 152171088 | CV1552563 | single nucleotide variant | NM_006912.6(RIT1):c.381A>C (p.Thr127=) | Cardiovascular phenotype [RCV002363677]|Noonan syndrome 8 [RCV002143333] | likely benign | 1 | 155904359 | 155904359 | Human | 1 | name |
| 152061260 | CV1559312 | single nucleotide variant | NM_006912.6(RIT1):c.564G>A (p.Glu188=) | Noonan syndrome 8 [RCV002168028] | likely benign | 1 | 155900484 | 155900484 | Human | 1 | name |
| 152111532 | CV1618428 | single nucleotide variant | NM_006912.6(RIT1):c.492T>C (p.Ser164=) | Noonan syndrome 8 [RCV002080316] | likely benign | 1 | 155900556 | 155900556 | Human | 1 | name |
| 152142139 | CV1629060 | single nucleotide variant | NM_006912.6(RIT1):c.423A>G (p.Leu141=) | Cardiovascular phenotype [RCV002331724]|Noonan syndrome 8 [RCV002100921] | likely benign | 1 | 155904317 | 155904317 | Human | 1 | name |
| 152165542 | CV1649315 | single nucleotide variant | NM_006912.6(RIT1):c.516T>C (p.Asp172=) | Cardiovascular phenotype [RCV002337405]|Noonan syndrome 8 [RCV002204264] | likely benign | 1 | 155900532 | 155900532 | Human | 1 | name |
| 153302569 | CV1688300 | single nucleotide variant | NM_006912.6(RIT1):c.67A>G (p.Lys23Glu) | Noonan syndrome 8 [RCV002265526] | pathogenic | 1 | 155910695 | 155910695 | Human | 1 | name |
| 155266522 | CV1699090 | single nucleotide variant | NM_006912.6(RIT1):c.29G>T (p.Ser10Ile) | not specified [RCV002282884] | uncertain significance | 1 | 155910733 | 155910733 | Human | | name |
| 155704205 | CV1787552 | single nucleotide variant | NM_006912.6(RIT1):c.408A>G (p.Ser136=) | Cardiovascular phenotype [RCV002323179]|Noonan syndrome 8 [RCV003741302]|RIT1-related disorder [RCV004747075] | likely benign | 1 | 155904332 | 155904332 | Human | 1 | name , trait , alternate_id |
| 155725768 | CV1790978 | single nucleotide variant | NM_006912.6(RIT1):c.41G>A (p.Ser14Asn) | Cardiovascular phenotype [RCV002327856] | uncertain significance | 1 | 155910721 | 155910721 | Human | | name |
| 155725790 | CV1790981 | single nucleotide variant | NM_006912.6(RIT1):c.41G>T (p.Ser14Ile) | Cardiovascular phenotype [RCV002327859] | uncertain significance | 1 | 155910721 | 155910721 | Human | | name |
| 155703131 | CV1791479 | single nucleotide variant | NM_006912.6(RIT1):c.441A>G (p.Glu147=) | Cardiovascular phenotype [RCV002333868]|Noonan syndrome 8 [RCV003094690] | likely benign | 1 | 155900607 | 155900607 | Human | 1 | name |
| 155744576 | CV1793206 | single nucleotide variant | NM_006912.6(RIT1):c.364C>A (p.Arg122=) | Cardiovascular phenotype [RCV002346642] | likely benign | 1 | 155904376 | 155904376 | Human | | name |
| 155746923 | CV1800405 | single nucleotide variant | NM_006912.6(RIT1):c.573G>C (p.Leu191=) | Cardiovascular phenotype [RCV002347777] | likely benign | 1 | 155900475 | 155900475 | Human | | name |
| 155705322 | CV1811170 | single nucleotide variant | NM_006912.6(RIT1):c.609A>G (p.Val203=) | Cardiovascular phenotype [RCV002360097]|Noonan syndrome 8 [RCV003103263] | likely benign | 1 | 155900439 | 155900439 | Human | 1 | name |
| 155796345 | CV1861799 | single nucleotide variant | NM_006912.6(RIT1):c.381A>G (p.Thr127=) | Noonan syndrome 8 [RCV002573602]|not specified [RCV002470081] | likely benign | 1 | 155904359 | 155904359 | Human | 1 | name |
| 10048878 | CV194951 | single nucleotide variant | NM_006912.6(RIT1):c.375C>T (p.Asp125=) | Cardiovascular phenotype [RCV002345624]|Noonan syndrome 8 [RCV001082335]|Noonan syndrome and Noonan-related syndrome [RCV001813423]|not provided [RCV000588435]|not specified [RCV000178921] | benign | 1 | 155904365 | 155904365 | Human | 1 | name |
| 156296751 | CV1955340 | single nucleotide variant | NM_006912.6(RIT1):c.489A>G (p.Thr163=) | Noonan syndrome 8 [RCV002578043] | likely benign | 1 | 155900559 | 155900559 | Human | 1 | name |
| 156175253 | CV1956534 | single nucleotide variant | NM_006912.6(RIT1):c.531C>A (p.Ala177=) | Noonan syndrome 8 [RCV002573938] | likely benign | 1 | 155900517 | 155900517 | Human | 1 | name |
| 156369728 | CV2031000 | single nucleotide variant | NM_006912.6(RIT1):c.570A>G (p.Val190=) | Noonan syndrome 8 [RCV002721431] | likely benign | 1 | 155900478 | 155900478 | Human | 1 | name |
| 156380024 | CV2060713 | single nucleotide variant | NM_006912.6(RIT1):c.351T>C (p.Leu117=) | Noonan syndrome 8 [RCV002815016] | likely benign | 1 | 155904389 | 155904389 | Human | 1 | name |
| 155963962 | CV2179884 | single nucleotide variant | NM_006912.6(RIT1):c.387G>A (p.Val129=) | Noonan syndrome 8 [RCV003033075] | likely benign | 1 | 155904353 | 155904353 | Human | 1 | name |
| 156174285 | CV2194415 | single nucleotide variant | NM_006912.6(RIT1):c.35G>C (p.Cys12Ser) | Cardiovascular phenotype [RCV004079516] | uncertain significance | 1 | 155910727 | 155910727 | Human | | name |
| 11051290 | CV225852 | single nucleotide variant | NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) | Cardiovascular phenotype [RCV003372654]|Hypertelorism [RCV000626786]|Noonan syndrome 8 [RCV000209835]|not provided [RCV000680368]|not specified [RCV000521893] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records | 1 | 155910695 | 155910695 | Human | 7 | name |
| 329384246 | CV2432533 | single nucleotide variant | NM_006912.6(RIT1):c.459C>A (p.Ala153=) | Cardiovascular phenotype [RCV003176549] | likely benign | 1 | 155900589 | 155900589 | Human | | name |
| 329955349 | CV2671293 | single nucleotide variant | NM_006912.6(RIT1):c.78G>A (p.Met26Ile) | not specified [RCV003236569] | uncertain significance | 1 | 155910684 | 155910684 | Human | | name |
| 401754841 | CV2717549 | single nucleotide variant | NM_006912.6(RIT1):c.531C>T (p.Ala177=) | Cardiovascular phenotype [RCV003296700] | likely benign | 1 | 155900517 | 155900517 | Human | | name |
| 405092933 | CV2921315 | single nucleotide variant | NM_006912.6(RIT1):c.659G>A (p.Ter220=) | Noonan syndrome 8 [RCV003582993] | likely benign | 1 | 155900389 | 155900389 | Human | 1 | name |
| 405080766 | CV2932994 | single nucleotide variant | NM_006912.6(RIT1):c.651A>G (p.Ser217=) | Noonan syndrome 8 [RCV003582017] | likely benign | 1 | 155900397 | 155900397 | Human | 1 | name |
| 405059018 | CV2947755 | single nucleotide variant | NM_006912.6(RIT1):c.421C>T (p.Leu141=) | Cardiovascular phenotype [RCV004661708]|Noonan syndrome 8 [RCV003741413] | likely benign | 1 | 155904319 | 155904319 | Human | 1 | name |
| 405063008 | CV2965895 | single nucleotide variant | NM_006912.6(RIT1):c.519T>C (p.Asp173=) | Noonan syndrome 8 [RCV003741736] | likely benign | 1 | 155900529 | 155900529 | Human | 1 | name |
| 405064872 | CV2989550 | single nucleotide variant | NM_006912.6(RIT1):c.50G>A (p.Gly17Glu) | Noonan syndrome 8 [RCV003741897] | uncertain significance | 1 | 155910712 | 155910712 | Human | 1 | name |
| 405070917 | CV3026942 | single nucleotide variant | NM_006912.6(RIT1):c.366A>G (p.Arg122=) | Noonan syndrome 8 [RCV003742363] | likely benign | 1 | 155904374 | 155904374 | Human | 1 | name |
| 405072954 | CV3042851 | single nucleotide variant | NM_006912.6(RIT1):c.507C>T (p.Tyr169=) | Noonan syndrome 8 [RCV003742503] | likely benign | 1 | 155900541 | 155900541 | Human | 1 | name |
| 405052882 | CV3064021 | single nucleotide variant | NM_006912.6(RIT1):c.465A>G (p.Glu155=) | Noonan syndrome 8 [RCV003740790]|not specified [RCV005240886] | likely benign | 1 | 155900583 | 155900583 | Human | 1 | name |
| 405147895 | CV3152142 | single nucleotide variant | NM_006912.6(RIT1):c.384T>C (p.Pro128=) | Noonan syndrome 8 [RCV003856113] | likely benign | 1 | 155904356 | 155904356 | Human | 1 | name |
| 405220609 | CV3154435 | single nucleotide variant | NM_006912.6(RIT1):c.29G>C (p.Ser10Thr) | Noonan syndrome 8 [RCV003847127] | uncertain significance | 1 | 155910733 | 155910733 | Human | 1 | name |
| 405074584 | CV3156090 | single nucleotide variant | NM_006912.6(RIT1):c.316C>A (p.Arg106=) | Noonan syndrome 8 [RCV003851148] | likely benign | 1 | 155904424 | 155904424 | Human | 1 | name |
| 408374911 | CV3508561 | single nucleotide variant | NM_006912.6(RIT1):c.69A>T (p.Lys23Asn) | RIT1-related disorder [RCV004747613] | pathogenic | 1 | 155910693 | 155910693 | Human | | name , trait , alternate_id |
| 597681314 | CV3593722 | single nucleotide variant | NM_006912.6(RIT1):c.58C>T (p.Arg20Trp) | Cardiovascular phenotype [RCV004983310] | uncertain significance | 1 | 155910704 | 155910704 | Human | | name |
| 597681318 | CV3593723 | single nucleotide variant | NM_006912.6(RIT1):c.537A>C (p.Val179=) | Cardiovascular phenotype [RCV004983311] | likely benign | 1 | 155900511 | 155900511 | Human | | name |
| 597681322 | CV3593724 | single nucleotide variant | NM_006912.6(RIT1):c.546A>T (p.Ile182=) | Cardiovascular phenotype [RCV004983312] | likely benign | 1 | 155900502 | 155900502 | Human | | name |
| 597681325 | CV3593725 | single nucleotide variant | NM_006912.6(RIT1):c.513T>C (p.Ile171=) | Cardiovascular phenotype [RCV004983313] | likely benign | 1 | 155900535 | 155900535 | Human | | name |
| 597681328 | CV3593726 | single nucleotide variant | NM_006912.6(RIT1):c.522T>A (p.Val174=) | Cardiovascular phenotype [RCV004983314] | likely benign | 1 | 155900526 | 155900526 | Human | | name |
| 597681334 | CV3593727 | single nucleotide variant | NM_006912.6(RIT1):c.630A>G (p.Pro210=) | Cardiovascular phenotype [RCV004983315] | likely benign | 1 | 155900418 | 155900418 | Human | | name |
| 597681339 | CV3593728 | single nucleotide variant | NM_006912.6(RIT1):c.363C>T (p.Val121=) | Cardiovascular phenotype [RCV004983316] | likely benign | 1 | 155904377 | 155904377 | Human | | name |
| 597681342 | CV3593729 | single nucleotide variant | NM_006912.6(RIT1):c.303T>C (p.Ser101=) | Cardiovascular phenotype [RCV004983317] | likely benign | 1 | 155904437 | 155904437 | Human | | name |
| 597681348 | CV3593730 | single nucleotide variant | NM_006912.6(RIT1):c.306C>T (p.Ile102=) | Cardiovascular phenotype [RCV004983318] | likely benign | 1 | 155904434 | 155904434 | Human | | name |
| 597832363 | CV3751348 | single nucleotide variant | NM_006912.6(RIT1):c.59G>A (p.Arg20Gln) | Noonan syndrome 8 [RCV005084894] | uncertain significance | 1 | 155910703 | 155910703 | Human | 1 | name |
| 597851609 | CV3758481 | single nucleotide variant | NM_006912.6(RIT1):c.486G>A (p.Glu162=) | Noonan syndrome 8 [RCV005088039] | likely benign | 1 | 155900562 | 155900562 | Human | 1 | name |
| 597854843 | CV3762590 | single nucleotide variant | NM_006912.6(RIT1):c.372T>G (p.Thr124=) | not specified [RCV005088508] | likely benign | 1 | 155904368 | 155904368 | Human | | name |
| 597839878 | CV3770375 | single nucleotide variant | NM_006912.6(RIT1):c.53T>G (p.Leu18Arg) | Noonan syndrome 8 [RCV005113676] | uncertain significance | 1 | 155910709 | 155910709 | Human | 1 | name |
| 597839884 | CV3770376 | single nucleotide variant | NM_006912.6(RIT1):c.49G>T (p.Gly17Trp) | Noonan syndrome 8 [RCV005113677] | uncertain significance | 1 | 155910713 | 155910713 | Human | 1 | name |
| 597853181 | CV3785172 | single nucleotide variant | NM_006912.6(RIT1):c.498A>G (p.Ala166=) | Noonan syndrome 8 [RCV005128015] | likely benign | 1 | 155900550 | 155900550 | Human | 1 | name |
| 597863932 | CV3797466 | single nucleotide variant | NM_006912.6(RIT1):c.657T>C (p.Thr219=) | Noonan syndrome 8 [RCV005138153] | likely benign | 1 | 155900391 | 155900391 | Human | 1 | name |
| 597895522 | CV3831000 | single nucleotide variant | NM_006912.6(RIT1):c.588A>G (p.Lys196=) | Noonan syndrome 8 [RCV005170397] | likely benign | 1 | 155900460 | 155900460 | Human | 1 | name |
| 597845061 | CV3880291 | single nucleotide variant | NM_006912.6(RIT1):c.43C>T (p.Pro15Ser) | not provided [RCV005227179] | uncertain significance | 1 | 155910719 | 155910719 | Human | | name |
| 12913921 | CV421174 | single nucleotide variant | NM_006912.6(RIT1):c.46G>A (p.Ala16Thr) | Cardiovascular phenotype [RCV002329177]|Noonan syndrome 8 [RCV003343868]|not provided [RCV000494418] | uncertain significance | 1 | 155910716 | 155910716 | Human | 1 | name |
| 13526281 | CV498105 | single nucleotide variant | NM_006912.6(RIT1):c.393T>C (p.Leu131=) | Cardiovascular phenotype [RCV002377320]|Noonan syndrome 8 [RCV000655068]|not specified [RCV000603928] | likely benign | 1 | 155904347 | 155904347 | Human | 1 | name |
| 13541472 | CV498116 | single nucleotide variant | NM_006912.6(RIT1):c.38G>A (p.Ser13Asn) | Cardiovascular phenotype [RCV002368057]|Noonan syndrome 8 [RCV001860276]|Noonan syndrome and Noonan-related syndrome [RCV001813519]|RIT1-related disorder [RCV003420058]|not provided [RCV001697491] | likely benign|uncertain significance | 1 | 155910724 | 155910724 | Human | 1 | name , trait , alternate_id |
| 13797536 | CV552491 | single nucleotide variant | NM_006912.6(RIT1):c.309G>C (p.Thr103=) | Cardiovascular phenotype [RCV004985067]|Noonan syndrome 8 [RCV005091991]|RIT1-related disorder [RCV004745549]|not provided [RCV000681299] | likely benign | 1 | 155904431 | 155904431 | Human | 1 | name , trait , alternate_id |
| 13814098 | CV556612 | single nucleotide variant | NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) | Noonan syndrome 1 [RCV000856799]|Noonan syndrome 8 [RCV000704832]|not provided [RCV001092173] | pathogenic|likely pathogenic | 1 | 155910693 | 155910693 | Human | 2 | name |
| 15040385 | CV682797 | single nucleotide variant | NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) | Noonan syndrome 1 [RCV000856810]|Noonan syndrome 8 [RCV003581735]|RIT1-related disorder [RCV003396492] | pathogenic|likely pathogenic | 1 | 155910671 | 155910671 | Human | 3 | name , trait , alternate_id |
| 15107707 | CV690375 | single nucleotide variant | NM_006912.6(RIT1):c.594G>A (p.Lys198=) | Cardiovascular phenotype [RCV002352581]|Noonan syndrome 8 [RCV001484605]|not provided [RCV000871557] | likely benign | 1 | 155900454 | 155900454 | Human | 1 | name |
| 15200664 | CV761244 | single nucleotide variant | NM_006912.6(RIT1):c.540G>A (p.Arg180=) | Cardiovascular phenotype [RCV002346121]|Noonan syndrome 8 [RCV000935444] | likely benign | 1 | 155900508 | 155900508 | Human | 1 | name |
| 39457148 | CV965822 | single nucleotide variant | NM_006912.6(RIT1):c.639G>A (p.Lys213=) | Noonan syndrome 8 [RCV002570592]|not specified [RCV001255556] | likely benign | 1 | 155900409 | 155900409 | Human | 1 | name |
| 126769967 | CV1002168 | single nucleotide variant | NM_006912.6(RIT1):c.134G>T (p.Arg45Leu) | Noonan syndrome 8 [RCV001322286] | uncertain significance | 1 | 155910479 | 155910479 | Human | 1 | name |
| 126920258 | CV1039473 | single nucleotide variant | NM_006912.6(RIT1):c.116T>A (p.Met39Lys) | Noonan syndrome 8 [RCV001373704] | uncertain significance | 1 | 155910497 | 155910497 | Human | 1 | name |
| 126919530 | CV1039474 | single nucleotide variant | NM_006912.6(RIT1):c.113C>G (p.Thr38Ser) | Noonan syndrome 8 [RCV001362346]|not specified [RCV001732138] | likely pathogenic|uncertain significance | 1 | 155910500 | 155910500 | Human | 1 | name |
| 127244089 | CV1053724 | single nucleotide variant | NM_006912.6(RIT1):c.280G>T (p.Glu94Ter) | Non-immune hydrops fetalis [RCV001375991] | pathogenic | 1 | 155904460 | 155904460 | Human | 2 | name |
| 150503002 | CV1212377 | insertion | NM_006912.6(RIT1):c.-43-166_-43-165insT | not provided [RCV001595251] | benign | 1 | 155910969 | 155910970 | Human | | name |
| 8649290 | CV125844 | single nucleotide variant | NM_006912.6(RIT1):c.270G>A (p.Met90Ile) | Noonan syndrome 8 [RCV000106331]|Noonan syndrome [RCV000220792]|Noonan syndrome and Noonan-related syndrome [RCV001813378]|RASopathy [RCV001844039]|not provided [RCV000301748] | pathogenic|likely pathogenic|not provided | 1 | 155904470 | 155904470 | Human | 3 | name |
| 150520451 | CV1289617 | single nucleotide variant | NM_006912.6(RIT1):c.116T>G (p.Met39Arg) | Noonan syndrome 8 [RCV001730034] | likely pathogenic|conflicting interpretations of pathogenicity | 1 | 155910497 | 155910497 | Human | 1 | name |
| 150550803 | CV1305177 | single nucleotide variant | NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr) | Cardiovascular phenotype [RCV004988736]|Noonan syndrome 8 [RCV001868650]|not provided [RCV001765957] | uncertain significance | 1 | 155904760 | 155904760 | Human | 1 | name |
| 151351872 | CV1322081 | single nucleotide variant | NM_006912.6(RIT1):c.272G>A (p.Arg91Lys) | not specified [RCV001806703] | uncertain significance | 1 | 155904468 | 155904468 | Human | | name |
| 151348499 | CV1324061 | single nucleotide variant | NM_006912.6(RIT1):c.116T>C (p.Met39Thr) | Cardiovascular phenotype [RCV004040927]|Noonan syndrome 8 [RCV001807974] | likely pathogenic|uncertain significance | 1 | 155910497 | 155910497 | Human | 1 | name |
| 151352184 | CV1325135 | single nucleotide variant | NM_006912.6(RIT1):c.292A>G (p.Ile98Val) | Noonan syndrome and Noonan-related syndrome [RCV001813691] | uncertain significance | 1 | 155904448 | 155904448 | Human | | name |
| 151352185 | CV1325136 | single nucleotide variant | NM_006912.6(RIT1):c.145G>C (p.Asp49His) | Noonan syndrome 8 [RCV001885298]|Noonan syndrome and Noonan-related syndrome [RCV001813692] | uncertain significance | 1 | 155910468 | 155910468 | Human | 1 | name |
| 151765316 | CV1495804 | deletion | NM_006912.6(RIT1):c.645del (p.Asp216fs) | Noonan syndrome 8 [RCV001863546] | uncertain significance | 1 | 155900403 | 155900403 | Human | 1 | name |
| 155663719 | CV1785772 | single nucleotide variant | NM_006912.6(RIT1):c.113C>T (p.Thr38Ile) | Cardiovascular phenotype [RCV002451793] | uncertain significance | 1 | 155910500 | 155910500 | Human | | name |
| 9833435 | CV178911 | single nucleotide variant | NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) | Congenital heart disease [RCV003483526]|Non-immune hydrops fetalis [RCV001375970]|Noonan syndrome 8 [RCV000054406]|Noonan syndrome [RCV000207343]|Noonan syndrome and Noonan-related syndrome [RCV001813414]|RASopathy [RCV001255602]|RIT1-related disorder [RCV003398 818]|not provided [RCV000159101] | pathogenic|likely pathogenic | 1 | 155904494 | 155904494 | Human | 6 | name , trait , alternate_id |
| 155686893 | CV1796738 | single nucleotide variant | NM_006912.6(RIT1):c.115A>G (p.Met39Val) | Cardiovascular phenotype [RCV002373186] | uncertain significance | 1 | 155910498 | 155910498 | Human | | name |
| 11039604 | CV181505 | single nucleotide variant | NM_006912.6(RIT1):c.265T>C (p.Tyr89His) | Noonan syndrome 8 [RCV000707713]|Noonan syndrome [RCV000207342]|Noonan syndrome and Noonan-related syndrome [RCV001813421]|RIT1-related disorder [RCV003965185]|not provided [RCV000486847] | pathogenic | 1 | 155904475 | 155904475 | Human | 2 | name , trait , alternate_id |
| 11039610 | CV181506 | single nucleotide variant | NM_006912.6(RIT1):c.251C>T (p.Ala84Val) | Cardiovascular phenotype [RCV003162683]|Noonan syndrome 8 [RCV001384932]|Noonan syndrome [RCV000207351]|RASopathy [RCV005406858]|not provided [RCV000492853] | pathogenic|likely pathogenic | 1 | 155904489 | 155904489 | Human | 3 | name |
| 11039606 | CV181507 | single nucleotide variant | NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) | Inborn genetic diseases [RCV000622399]|Noonan syndrome 1 [RCV000856766]|Noonan syndrome 8 [RCV001384933]|Noonan syndrome [RCV000207345]|RASopathy [RCV001175490]|not provided [RCV000414438] | pathogenic | 1 | 155904493 | 155904493 | Human | 5 | name |
| 11039611 | CV181508 | single nucleotide variant | NM_006912.6(RIT1):c.244T>G (p.Phe82Val) | Cardiovascular phenotype [RCV002453562]|Noonan syndrome 8 [RCV000170492]|Noonan syndrome [RCV000207352]|Noonan syndrome and Noonan-related syndrome [RCV001813420]|RASopathy [RCV001778757]|not provided [RCV000263369] | pathogenic | 1 | 155904496 | 155904496 | Human | 3 | name |
| 11039607 | CV181509 | single nucleotide variant | NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) | Noonan syndrome 8 [RCV001850287]|Noonan syndrome [RCV000207346]|Noonan syndrome and Noonan-related syndrome [RCV001813419]|RASopathy [RCV003317110]|RIT1-related disorder [RCV003927532]|not provided [RCV000254958] | pathogenic | 1 | 155904496 | 155904496 | Human | 3 | name , trait , alternate_id |
| 11039601 | CV181510 | single nucleotide variant | NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) | Noonan syndrome 8 [RCV000226825]|Noonan syndrome [RCV000207338]|not provided [RCV001731491] | pathogenic|uncertain significance | 1 | 155904496 | 155904496 | Human | 2 | name |
| 11039609 | CV181511 | single nucleotide variant | NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) | Inborn genetic diseases [RCV001265779]|Noonan syndrome 8 [RCV000054405]|Noonan syndrome [RCV000207350]|Noonan syndrome and Noonan-related syndrome [RCV001813418]|RASopathy [RCV001174556]|RIT1-related disorder [RCV004745234]|not provided [RCV000255048]|not specif ied [RCV000508083] | pathogenic|likely pathogenic | 1 | 155904498 | 155904498 | Human | 4 | name , trait , alternate_id |
| 11039608 | CV181512 | single nucleotide variant | NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) | Noonan syndrome [RCV000207347] | pathogenic | 1 | 155904499 | 155904499 | Human | 1 | name |
| 11039602 | CV181513 | single nucleotide variant | NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) | Noonan syndrome 1 [RCV000856755]|Noonan syndrome 8 [RCV000578238]|Noonan syndrome [RCV000207340]|RASopathy [RCV003114309]|RIT1-related disorder [RCV004745233]|not provided [RCV000282691] | pathogenic|likely pathogenic | 1 | 155904739 | 155904739 | Human | 4 | name , trait , alternate_id |
| 11039605 | CV181514 | single nucleotide variant | NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) | Noonan syndrome 8 [RCV001211033]|Noonan syndrome [RCV000207344] | likely pathogenic|uncertain significance | 1 | 155910462 | 155910462 | Human | 2 | name |
| 11039603 | CV181515 | single nucleotide variant | NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) | Noonan syndrome 8 [RCV000475746]|Noonan syndrome [RCV000207341]|RASopathy [RCV003235080]|not provided [RCV000255076] | pathogenic|likely pathogenic | 1 | 155910658 | 155910658 | Human | 3 | name |
| 155724734 | CV1828364 | single nucleotide variant | NM_006912.6(RIT1):c.173A>G (p.Tyr58Cys) | Cardiovascular phenotype [RCV002399300] | uncertain significance | 1 | 155904795 | 155904795 | Human | | name |
| 155675655 | CV1854300 | single nucleotide variant | NM_006912.6(RIT1):c.289A>C (p.Ile97Leu) | Cardiovascular phenotype [RCV002438007] | uncertain significance | 1 | 155904451 | 155904451 | Human | | name |
| 10044318 | CV188134 | single nucleotide variant | NM_006912.6(RIT1):c.270G>C (p.Met90Ile) | Cardiovascular phenotype [RCV004020021]|Noonan syndrome 8 [RCV000170493]|Noonan syndrome and Noonan-related syndrome [RCV001813422]|RASopathy [RCV005237632]|RIT1-related disorder [RCV003416059]|not provided [RCV000355969] | pathogenic|likely pathogenic | 1 | 155904470 | 155904470 | Human | 2 | name , trait , alternate_id |
| 156404310 | CV1898196 | single nucleotide variant | NM_006912.6(RIT1):c.133C>G (p.Arg45Gly) | Noonan syndrome 8 [RCV002585376] | uncertain significance | 1 | 155910480 | 155910480 | Human | 1 | name |
| 156056392 | CV1928769 | single nucleotide variant | NM_006912.6(RIT1):c.256C>T (p.Arg86Trp) | Noonan syndrome 8 [RCV002620785] | uncertain significance | 1 | 155904484 | 155904484 | Human | 1 | name |
| 156168975 | CV2019909 | single nucleotide variant | NM_006912.6(RIT1):c.146A>T (p.Asp49Val) | Noonan syndrome 8 [RCV002710425] | uncertain significance | 1 | 155910467 | 155910467 | Human | 1 | name |
| 11092756 | CV228269 | single nucleotide variant | NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) | Noonan syndrome 8 [RCV000467706]|Noonan syndrome [RCV000218943]|not provided [RCV002517525] | pathogenic|likely pathogenic | 1 | 155904739 | 155904739 | Human | 2 | name |
| 243050589 | CV2403885 | single nucleotide variant | NM_006912.6(RIT1):c.292A>T (p.Ile98Phe) | Noonan syndrome 8 [RCV003128556] | uncertain significance | 1 | 155904448 | 155904448 | Human | 1 | name |
| 243062321 | CV2404721 | single nucleotide variant | NM_006912.6(RIT1):c.111G>C (p.Met37Ile) | Noonan syndrome 8 [RCV003140282] | pathogenic | 1 | 155910502 | 155910502 | Human | | name |
| 329362747 | CV2432534 | single nucleotide variant | NM_006912.6(RIT1):c.259G>A (p.Asp87Asn) | Cardiovascular phenotype [RCV003167957] | likely pathogenic|uncertain significance | 1 | 155904481 | 155904481 | Human | | name |
| 11559950 | CV259632 | single nucleotide variant | NM_006912.6(RIT1):c.270G>T (p.Met90Ile) | Inborn genetic diseases [RCV001267162]|Noonan syndrome 8 [RCV000722172]|RASopathy [RCV005238808]|not provided [RCV000255338] | pathogenic | 1 | 155904470 | 155904470 | Human | 3 | name |
| 11637037 | CV263956 | single nucleotide variant | NM_006912.6(RIT1):c.259G>C (p.Asp87His) | Noonan syndrome 8 [RCV001855060]|Noonan syndrome and Noonan-related syndrome [RCV001813441]|not provided [RCV000278934] | pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records | 1 | 155904481 | 155904481 | Human | 1 | name |
| 405076642 | CV2905539 | single nucleotide variant | NM_006912.6(RIT1):c.139C>A (p.Pro47Thr) | Noonan syndrome 8 [RCV003581471] | uncertain significance | 1 | 155910474 | 155910474 | Human | 1 | name |
| 405062333 | CV2968186 | single nucleotide variant | NM_006912.6(RIT1):c.153T>A (p.Asp51Glu) | Noonan syndrome 8 [RCV003741680]|not specified [RCV005240855] | uncertain significance | 1 | 155910460 | 155910460 | Human | 1 | name |
| 405062358 | CV2968304 | single nucleotide variant | NM_006912.6(RIT1):c.206C>A (p.Ala69Asp) | Noonan syndrome 8 [RCV003741682] | uncertain significance | 1 | 155904762 | 155904762 | Human | 1 | name |
| 405066131 | CV2992253 | single nucleotide variant | NM_006912.6(RIT1):c.253A>G (p.Met85Val) | Noonan syndrome 8 [RCV003741995] | uncertain significance | 1 | 155904487 | 155904487 | Human | 1 | name |
| 405070216 | CV3029268 | single nucleotide variant | NM_006912.6(RIT1):c.125T>C (p.Ile42Thr) | Cardiovascular phenotype [RCV004371872]|Noonan syndrome 8 [RCV003742312] | uncertain significance | 1 | 155910488 | 155910488 | Human | 1 | name |
| 405051908 | CV3055397 | deletion | NM_006912.6(RIT1):c.638del (p.Lys213fs) | Noonan syndrome 8 [RCV003740686] | uncertain significance | 1 | 155900410 | 155900410 | Human | 1 | name |
| 405054118 | CV3066126 | single nucleotide variant | NM_006912.6(RIT1):c.128G>C (p.Ser43Thr) | Noonan syndrome 8 [RCV003740900] | uncertain significance | 1 | 155910485 | 155910485 | Human | 1 | name |
| 404990004 | CV3131957 | single nucleotide variant | NM_006912.6(RIT1):c.274G>T (p.Ala92Ser) | Noonan syndrome 8 [RCV003827086] | uncertain significance | 1 | 155904466 | 155904466 | Human | 1 | name |
| 405230587 | CV3153904 | deletion | NM_006912.6(RIT1):c.634del (p.Arg212fs) | Cardiovascular phenotype [RCV005273967]|Noonan syndrome 8 [RCV003848772] | uncertain significance | 1 | 155900414 | 155900414 | Human | 1 | name |
| 405183595 | CV3159581 | single nucleotide variant | NM_006912.6(RIT1):c.211C>G (p.Leu71Val) | Noonan syndrome 8 [RCV003858832]|not provided [RCV004780678] | uncertain significance | 1 | 155904757 | 155904757 | Human | 1 | name |
| 405680538 | CV3390457 | single nucleotide variant | NM_006912.6(RIT1):c.117G>A (p.Met39Ile) | Cardiovascular phenotype [RCV004517221] | uncertain significance | 1 | 155910496 | 155910496 | Human | | name |
| 405680543 | CV3390458 | single nucleotide variant | NM_006912.6(RIT1):c.151G>A (p.Asp51Asn) | Cardiovascular phenotype [RCV004517222] | uncertain significance | 1 | 155910462 | 155910462 | Human | | name |
| 405680545 | CV3390459 | single nucleotide variant | NM_006912.6(RIT1):c.155C>T (p.Pro52Leu) | Cardiovascular phenotype [RCV004517223] | uncertain significance | 1 | 155910458 | 155910458 | Human | | name |
| 407425485 | CV3411275 | single nucleotide variant | NM_006912.6(RIT1):c.172T>G (p.Tyr58Asp) | not provided [RCV004588966] | uncertain significance | 1 | 155904796 | 155904796 | Human | | name |
| 407475688 | CV3483356 | single nucleotide variant | NM_006912.6(RIT1):c.191T>C (p.Ile64Thr) | Cardiovascular phenotype [RCV004663292] | uncertain significance | 1 | 155904777 | 155904777 | Human | | name |
| 408386869 | CV3518584 | single nucleotide variant | NM_006912.6(RIT1):c.179T>C (p.Ile60Thr) | not provided [RCV004760902] | uncertain significance | 1 | 155904789 | 155904789 | Human | | name |
| 408381803 | CV3524007 | single nucleotide variant | NM_006912.6(RIT1):c.176A>C (p.Lys59Thr) | not provided [RCV004766405] | uncertain significance | 1 | 155904792 | 155904792 | Human | | name |
| 596928201 | CV3532845 | single nucleotide variant | NM_006912.6(RIT1):c.220T>A (p.Leu74Met) | not provided [RCV004778943] | uncertain significance | 1 | 155904748 | 155904748 | Human | | name |
| 596928762 | CV3541649 | single nucleotide variant | NM_006912.6(RIT1):c.269T>C (p.Met90Thr) | Noonan syndrome 8 [RCV004797522] | likely pathogenic | 1 | 155904471 | 155904471 | Human | 1 | name |
| 11664849 | CV354275 | single nucleotide variant | NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) | Cardiovascular phenotype [RCV003372696]|Noonan syndrome 1 [RCV000856765]|Noonan syndrome 8 [RCV000408903]|not provided [RCV000427451] | pathogenic | 1 | 155904494 | 155904494 | Human | 5 | name |
| 597649563 | CV3551839 | single nucleotide variant | NM_006912.6(RIT1):c.130C>T (p.His44Tyr) | not provided [RCV004820552] | uncertain significance | 1 | 155910483 | 155910483 | Human | | name |
| 12742417 | CV359228 | single nucleotide variant | NM_006912.6(RIT1):c.245T>G (p.Phe82Cys) | Noonan syndrome 8 [RCV001782888]|RASopathy [RCV004701458]|RIT1-related disorder [RCV003418096]|not provided [RCV000413610] | pathogenic | 1 | 155904495 | 155904495 | Human | 2 | name , trait , alternate_id |
| 12741252 | CV359281 | single nucleotide variant | NM_006912.6(RIT1):c.118C>T (p.Gln40Ter) | not specified [RCV000414539] | uncertain significance | 1 | 155910495 | 155910495 | Human | | name |
| 597940401 | CV3757232 | single nucleotide variant | NM_006912.6(RIT1):c.142G>A (p.Glu48Lys) | Noonan syndrome 8 [RCV005077417] | uncertain significance | 1 | 155910471 | 155910471 | Human | 1 | name |
| 597839873 | CV3770373 | single nucleotide variant | NM_006912.6(RIT1):c.260A>C (p.Asp87Ala) | Noonan syndrome 8 [RCV005113674] | likely pathogenic | 1 | 155904480 | 155904480 | Human | 1 | name |
| 597873093 | CV3803387 | single nucleotide variant | NM_006912.6(RIT1):c.109A>G (p.Met37Val) | Noonan syndrome 8 [RCV005147984] | uncertain significance | 1 | 155910504 | 155910504 | Human | 1 | name |
| 597908591 | CV3845772 | single nucleotide variant | NM_006912.6(RIT1):c.134G>A (p.Arg45Gln) | Noonan syndrome 8 [RCV005183567] | uncertain significance | 1 | 155910479 | 155910479 | Human | 1 | name |
| 598229812 | CV3899250 | single nucleotide variant | NM_006912.6(RIT1):c.209A>G (p.Asn70Ser) | Cardiovascular phenotype [RCV005274242] | uncertain significance | 1 | 155904759 | 155904759 | Human | | name |
| 13794386 | CV551682 | single nucleotide variant | NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) | Noonan syndrome 8 [RCV000995856]|Noonan syndrome [RCV000678904]|RASopathy [RCV004760697] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 1 | 155904735 | 155904735 | Human | 3 | name |
| 13797210 | CV552492 | single nucleotide variant | NM_006912.6(RIT1):c.268A>G (p.Met90Val) | Noonan syndrome 8 [RCV000762859]|Noonan syndrome [RCV001261143]|Noonan syndrome and Noonan-related syndrome [RCV001813544]|RASopathy [RCV001192383]|not provided [RCV000681030] | pathogenic|likely pathogenic | 1 | 155904472 | 155904472 | Human | 3 | name |
| 13797082 | CV552494 | single nucleotide variant | NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) | Noonan syndrome 1 [RCV003453398]|Noonan syndrome 8 [RCV001861885]|not provided [RCV000680952] | pathogenic | 1 | 155904739 | 155904739 | Human | 2 | name |
| 13806506 | CV556953 | single nucleotide variant | NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) | Noonan syndrome 1 [RCV003453484]|Noonan syndrome 8 [RCV000700611]|not provided [RCV002291694] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 155910501 | 155910501 | Human | 2 | name |
| 14735486 | CV626899 | single nucleotide variant | NM_006912.6(RIT1):c.153T>G (p.Asp51Glu) | Noonan syndrome 8 [RCV000803177]|not provided [RCV001655600] | uncertain significance | 1 | 155910460 | 155910460 | Human | 1 | name |
| 15040358 | CV682796 | single nucleotide variant | NM_006912.6(RIT1):c.245T>C (p.Phe82Ser) | Noonan syndrome 1 [RCV000856764] | pathogenic | 1 | 155904495 | 155904495 | Human | 1 | name |
| 8572564 | CV75093 | single nucleotide variant | NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) | Cardiovascular phenotype [RCV002399414]|Noonan syndrome 1 [RCV000856747]|Noonan syndrome 8 [RCV000054404]|Noonan syndrome [RCV000207349]|Noonan syndrome and Noonan-related syndrome [RCV001813373]|RASopathy [RCV001731346]|RIT1-related disorder [RCV003390753]|not provided [RCV000159100] | pathogenic|uncertain significance | 1 | 155904798 | 155904798 | Human | 4 | name , trait , alternate_id |
| 8572567 | CV75096 | single nucleotide variant | NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) | Cardiovascular phenotype [RCV002433549]|Noonan syndrome 1 [RCV003450918]|Noonan syndrome 8 [RCV000054407]|Noonan syndrome [RCV000207348]|Noonan syndrome and Noonan-related syndrome [RCV001813374]|RASopathy [RCV001192384]|RIT1-related disorder [RCV003915017]|not provided [RCV000298790] | pathogenic | 1 | 155904456 | 155904456 | Human | 4 | name , trait , alternate_id |
| 26915934 | CV822785 | deletion | NM_006912.6(RIT1):c.649del (p.Ser217fs) | Noonan syndrome 8 [RCV001041643] | uncertain significance | 1 | 155900399 | 155900399 | Human | 1 | name |
| 26914066 | CV822786 | single nucleotide variant | NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) | Cardiovascular phenotype [RCV003372960]|Noonan syndrome 8 [RCV001054701]|not provided [RCV001683730] | pathogenic|likely pathogenic | 1 | 155904738 | 155904738 | Human | 1 | name |
| 26887052 | CV822787 | single nucleotide variant | NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) | Cardiovascular phenotype [RCV002393220]|Noonan syndrome 8 [RCV001044625]|not specified [RCV001175489] | uncertain significance | 1 | 155910473 | 155910473 | Human | 1 | name |
| 38598385 | CV964130 | single nucleotide variant | NM_006912.6(RIT1):c.268A>C (p.Met90Leu) | Noonan syndrome 8 [RCV001253561] | likely pathogenic | 1 | 155904472 | 155904472 | Human | 1 | name |
| 40813898 | CV969626 | single nucleotide variant | NM_006912.6(RIT1):c.235C>G (p.Gln79Glu) | Noonan syndrome 8 [RCV001880009]|Noonan syndrome [RCV001261142]|not provided [RCV003313201] | likely pathogenic|uncertain significance | 1 | 155904733 | 155904733 | Human | 2 | name |
| 40813897 | CV969627 | single nucleotide variant | NM_006912.6(RIT1):c.152A>T (p.Asp51Val) | Noonan syndrome [RCV001261141] | uncertain significance | 1 | 155910461 | 155910461 | Human | 1 | name |
| 40813896 | CV969628 | single nucleotide variant | NM_006912.6(RIT1):c.131A>T (p.His44Leu) | Noonan syndrome [RCV001261140] | likely benign | 1 | 155910482 | 155910482 | Human | 1 | name |
| 40813895 | CV969629 | single nucleotide variant | NM_006912.6(RIT1):c.113C>A (p.Thr38Asn) | Noonan syndrome 8 [RCV002541575]|Noonan syndrome [RCV001261139] | likely pathogenic|uncertain significance | 1 | 155910500 | 155910500 | Human | 2 | name |
| 126729040 | CV986935 | single nucleotide variant | NM_006912.6(RIT1):c.257G>A (p.Arg86Gln) | Noonan syndrome 8 [RCV001303502] | uncertain significance | 1 | 155904483 | 155904483 | Human | 1 | name |
| 151233456 | CV1317827 | single nucleotide variant | NM_006912.6(RIT1):c.326A>T (p.His109Leu) | Noonan syndrome 8 [RCV001885212]|not provided [RCV001787594] | uncertain significance | 1 | 155904414 | 155904414 | Human | 1 | name |
| 151352180 | CV1325132 | single nucleotide variant | NM_006912.6(RIT1):c.635G>A (p.Arg212Gln) | Cardiovascular phenotype [RCV002361067]|Noonan syndrome 8 [RCV001869619]|Noonan syndrome and Noonan-related syndrome [RCV001813688] | uncertain significance | 1 | 155900413 | 155900413 | Human | 1 | name |
| 151352181 | CV1325133 | single nucleotide variant | NM_006912.6(RIT1):c.488C>T (p.Thr163Ile) | Noonan syndrome 8 [RCV003581807]|Noonan syndrome and Noonan-related syndrome [RCV001813689]|RIT1-related disorder [RCV003892859] | uncertain significance | 1 | 155900560 | 155900560 | Human | 1 | name , trait , alternate_id |
| 151352183 | CV1325134 | single nucleotide variant | NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr) | Cardiovascular phenotype [RCV002458622]|Noonan syndrome 8 [RCV001869620]|Noonan syndrome and Noonan-related syndrome [RCV001813690] | uncertain significance | 1 | 155904399 | 155904399 | Human | 1 | name |
| 151793042 | CV1341559 | single nucleotide variant | NM_006912.6(RIT1):c.646G>A (p.Asp216Asn) | Cardiovascular phenotype [RCV002361095]|Noonan syndrome 8 [RCV001866424] | likely benign|uncertain significance | 1 | 155900402 | 155900402 | Human | 1 | name |
| 151768106 | CV1345392 | single nucleotide variant | NM_006912.6(RIT1):c.548G>A (p.Arg183His) | Noonan syndrome 8 [RCV001863813] | uncertain significance | 1 | 155900500 | 155900500 | Human | 1 | name |
| 151746121 | CV1433074 | single nucleotide variant | NM_006912.6(RIT1):c.326A>G (p.His109Arg) | Cardiovascular phenotype [RCV002324413]|Noonan syndrome 8 [RCV001985744]|not provided [RCV004591666] | uncertain significance | 1 | 155904414 | 155904414 | Human | 1 | name |
| 151875167 | CV1459841 | single nucleotide variant | NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys) | Cardiovascular phenotype [RCV003303670]|Noonan syndrome 8 [RCV002036166] | uncertain significance | 1 | 155900548 | 155900548 | Human | 1 | name |
| 153305640 | CV1688695 | single nucleotide variant | NM_006912.6(RIT1):c.358C>G (p.Arg120Gly) | not provided [RCV004763350]|not specified [RCV002266433] | uncertain significance | 1 | 155904382 | 155904382 | Human | | name |
| 155704831 | CV1771305 | single nucleotide variant | NM_006912.6(RIT1):c.559A>C (p.Lys187Gln) | Cardiovascular phenotype [RCV003164501]|Noonan syndrome 8 [RCV002295795] | uncertain significance | 1 | 155900489 | 155900489 | Human | 1 | name |
| 155749877 | CV1779243 | single nucleotide variant | NM_006912.6(RIT1):c.587A>C (p.Lys196Thr) | Noonan syndrome 8 [RCV002305115] | uncertain significance | 1 | 155900461 | 155900461 | Human | 1 | name |
| 155675174 | CV1786456 | single nucleotide variant | NM_006912.6(RIT1):c.356A>G (p.Tyr119Cys) | Cardiovascular phenotype [RCV002454979] | uncertain significance | 1 | 155904384 | 155904384 | Human | | name |
| 155665785 | CV1786878 | single nucleotide variant | NM_006912.6(RIT1):c.373G>A (p.Asp125Asn) | Cardiovascular phenotype [RCV002349226] | uncertain significance | 1 | 155904367 | 155904367 | Human | | name |
| 9833434 | CV178908 | single nucleotide variant | NM_006912.6(RIT1):c.532C>G (p.Leu178Val) | Cardiovascular phenotype [RCV002346572]|Noonan syndrome 8 [RCV003096341]|not specified [RCV002282885] | uncertain significance | 1 | 155900516 | 155900516 | Human | 1 | name |
| 9833436 | CV178909 | single nucleotide variant | NM_006912.5(RIT1):c.493G>T (p.Ala165Ser) | Rasopathy [RCV000159102] | uncertain significance | 1 | 155900555 | 155900555 | Human | | name |
| 155676366 | CV1796123 | single nucleotide variant | NM_006912.6(RIT1):c.359G>A (p.Arg120Gln) | Cardiovascular phenotype [RCV002455166]|Noonan syndrome 8 [RCV003099606] | uncertain significance | 1 | 155904381 | 155904381 | Human | 1 | name |
| 155730394 | CV1796126 | single nucleotide variant | NM_006912.6(RIT1):c.359G>T (p.Arg120Leu) | Cardiovascular phenotype [RCV002339860] | uncertain significance | 1 | 155904381 | 155904381 | Human | | name |
| 155697118 | CV1800887 | single nucleotide variant | NM_006912.6(RIT1):c.602A>G (p.Asn201Ser) | Cardiovascular phenotype [RCV002358145]|Noonan syndrome 8 [RCV003103257] | likely benign|uncertain significance | 1 | 155900446 | 155900446 | Human | 1 | name |
| 155745410 | CV1802811 | single nucleotide variant | NM_006912.6(RIT1):c.535G>A (p.Val179Ile) | Cardiovascular phenotype [RCV002347020]|Noonan syndrome 8 [RCV003102724] | uncertain significance | 1 | 155900513 | 155900513 | Human | 1 | name |
| 155745716 | CV1802961 | single nucleotide variant | NM_006912.6(RIT1):c.538C>T (p.Arg180Trp) | Cardiovascular phenotype [RCV002347170]|Noonan syndrome 8 [RCV003581844] | uncertain significance | 1 | 155900510 | 155900510 | Human | 1 | name |
| 155680700 | CV1807272 | single nucleotide variant | NM_006912.6(RIT1):c.588A>C (p.Lys196Asn) | Cardiovascular phenotype [RCV002353561]|Noonan syndrome 8 [RCV003581845] | likely benign|uncertain significance | 1 | 155900460 | 155900460 | Human | 1 | name |
| 155681144 | CV1807625 | single nucleotide variant | NM_006912.6(RIT1):c.615G>T (p.Lys205Asn) | Cardiovascular phenotype [RCV002353651] | uncertain significance | 1 | 155900433 | 155900433 | Human | | name |
| 155795567 | CV1861378 | single nucleotide variant | NM_006912.6(RIT1):c.511A>G (p.Ile171Val) | not provided [RCV002469660] | uncertain significance | 1 | 155900537 | 155900537 | Human | | name |
| 155975001 | CV1885932 | single nucleotide variant | NM_006912.6(RIT1):c.503G>A (p.Arg168His) | Noonan syndrome 8 [RCV003075369] | uncertain significance | 1 | 155900545 | 155900545 | Human | 1 | name |
| 155992637 | CV1894478 | single nucleotide variant | NM_006912.6(RIT1):c.338A>T (p.Glu113Val) | Noonan syndrome 8 [RCV003076185] | uncertain significance | 1 | 155904402 | 155904402 | Human | 1 | name |
| 156372292 | CV1901538 | single nucleotide variant | NM_006912.6(RIT1):c.566C>T (p.Ala189Val) | Noonan syndrome 8 [RCV002582517] | uncertain significance | 1 | 155900482 | 155900482 | Human | 1 | name |
| 156367903 | CV1902962 | single nucleotide variant | NM_006912.6(RIT1):c.550A>G (p.Arg184Gly) | Noonan syndrome 8 [RCV003092192]|RIT1-related disorder [RCV003906500] | uncertain significance | 1 | 155900498 | 155900498 | Human | 1 | name , trait , alternate_id |
| 156216233 | CV1910625 | single nucleotide variant | NM_006912.6(RIT1):c.650C>G (p.Ser217Ter) | Noonan syndrome 8 [RCV002596273]|not provided [RCV004775302] | uncertain significance | 1 | 155900398 | 155900398 | Human | 1 | name |
| 156376301 | CV1930511 | single nucleotide variant | NM_006912.6(RIT1):c.598A>C (p.Lys200Gln) | Noonan syndrome 8 [RCV002633859] | uncertain significance | 1 | 155900450 | 155900450 | Human | 1 | name |
| 156169586 | CV1968237 | single nucleotide variant | NM_006912.6(RIT1):c.340T>C (p.Phe114Leu) | Noonan syndrome 8 [RCV002594730] | uncertain significance | 1 | 155904400 | 155904400 | Human | 1 | name |
| 156121860 | CV2015980 | single nucleotide variant | NM_006912.6(RIT1):c.607G>A (p.Val203Ile) | Noonan syndrome 8 [RCV002696067] | uncertain significance | 1 | 155900441 | 155900441 | Human | 1 | name |
| 155969200 | CV2030669 | single nucleotide variant | NM_006912.6(RIT1):c.379A>G (p.Thr127Ala) | Noonan syndrome 8 [RCV002731542] | uncertain significance | 1 | 155904361 | 155904361 | Human | 1 | name |
| 155954138 | CV2033288 | single nucleotide variant | NM_006912.6(RIT1):c.618G>C (p.Arg206Ser) | Cardiovascular phenotype [RCV004983108]|Noonan syndrome 8 [RCV002730837] | uncertain significance | 1 | 155900430 | 155900430 | Human | 1 | name |
| 156317198 | CV2071110 | single nucleotide variant | NM_006912.6(RIT1):c.401A>G (p.Asn134Ser) | Noonan syndrome 8 [RCV002834474] | uncertain significance | 1 | 155904339 | 155904339 | Human | 1 | name |
| 156337283 | CV2110226 | single nucleotide variant | NM_006912.6(RIT1):c.413T>G (p.Leu138Arg) | Noonan syndrome 8 [RCV002938705] | uncertain significance | 1 | 155904327 | 155904327 | Human | 1 | name |
| 156205078 | CV2110232 | single nucleotide variant | NM_006912.6(RIT1):c.310G>A (p.Asp104Asn) | Noonan syndrome 8 [RCV002957522] | uncertain significance | 1 | 155904430 | 155904430 | Human | 1 | name |
| 156140234 | CV2116674 | single nucleotide variant | NM_006912.6(RIT1):c.617G>C (p.Arg206Thr) | Noonan syndrome 8 [RCV002914880] | uncertain significance | 1 | 155900431 | 155900431 | Human | 1 | name |
| 156204275 | CV2134889 | single nucleotide variant | NM_006912.6(RIT1):c.374A>G (p.Asp125Gly) | Cardiovascular phenotype [RCV004065145]|Noonan syndrome 8 [RCV002985338] | uncertain significance | 1 | 155904366 | 155904366 | Human | 1 | name |
| 156317694 | CV2137830 | single nucleotide variant | NM_006912.6(RIT1):c.335G>A (p.Arg112His) | Cardiovascular phenotype [RCV004065065]|Noonan syndrome 8 [RCV002963000] | uncertain significance | 1 | 155904405 | 155904405 | Human | 1 | name |
| 156033669 | CV2182339 | single nucleotide variant | NM_006912.6(RIT1):c.572T>A (p.Leu191Gln) | Noonan syndrome 8 [RCV003036290] | uncertain significance | 1 | 155900476 | 155900476 | Human | 1 | name |
| 11089611 | CV228266 | single nucleotide variant | NM_006912.6(RIT1):c.604A>T (p.Ser202Cys) | not specified [RCV000215033] | uncertain significance | 1 | 155900444 | 155900444 | Human | | name |
| 156263209 | CV2314954 | single nucleotide variant | NM_006912.6(RIT1):c.391C>A (p.Leu131Ile) | Cardiovascular phenotype [RCV004164884] | uncertain significance | 1 | 155904349 | 155904349 | Human | | name |
| 329384148 | CV2432535 | single nucleotide variant | NM_006912.6(RIT1):c.385G>A (p.Val129Met) | Cardiovascular phenotype [RCV003176550] | uncertain significance | 1 | 155904355 | 155904355 | Human | | name |
| 11642355 | CV263947 | single nucleotide variant | NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) | Cardiovascular phenotype [RCV002365291]|Noonan syndrome 8 [RCV001342293]|Noonan syndrome and Noonan-related syndrome [RCV001813440]|not provided [RCV000373670]|not specified [RCV001174993] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 155900414 | 155900414 | Human | 1 | name |
| 11581142 | CV263951 | single nucleotide variant | NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) | Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV002051722]|Noonan syndrome 8 [RCV001037285]|Noonan syndrome and Noonan-related syndrome [RCV001813444]|not provided [RCV000357501] | pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records | 1 | 155904375 | 155904375 | Human | 2 | name |
| 11636646 | CV263953 | single nucleotide variant | NM_006912.6(RIT1):c.304A>G (p.Ile102Val) | Noonan syndrome 8 [RCV003581647]|not provided [RCV000272397] | uncertain significance | 1 | 155904436 | 155904436 | Human | 1 | name |
| 11639701 | CV263954 | single nucleotide variant | NM_006912.6(RIT1):c.575C>T (p.Ala192Val) | Cardiovascular phenotype [RCV004021070]|Noonan syndrome 8 [RCV001270055]|not provided [RCV000325585] | uncertain significance | 1 | 155900473 | 155900473 | Human | 1 | name |
| 401796237 | CV2740443 | single nucleotide variant | NM_006912.6(RIT1):c.308C>T (p.Thr103Met) | Noonan syndrome 8 [RCV005102894]|not provided [RCV003321113] | uncertain significance | 1 | 155904432 | 155904432 | Human | 1 | name |
| 401797146 | CV2741977 | single nucleotide variant | NM_006912.6(RIT1):c.437A>G (p.Lys146Arg) | not specified [RCV003324153] | uncertain significance | 1 | 155900611 | 155900611 | Human | | name |
| 401936312 | CV2803138 | single nucleotide variant | NM_006912.6(RIT1):c.375C>A (p.Asp125Glu) | RIT1-related disorder [RCV003414316] | uncertain significance | 1 | 155904365 | 155904365 | Human | | name , trait , alternate_id |
| 404992882 | CV2850906 | single nucleotide variant | NM_006912.6(RIT1):c.365G>A (p.Arg122Gln) | Noonan syndrome 8 [RCV003491404] | uncertain significance | 1 | 155904375 | 155904375 | Human | 1 | name |
| 405075950 | CV2901652 | single nucleotide variant | NM_006912.6(RIT1):c.578T>G (p.Met193Arg) | Noonan syndrome 8 [RCV003581449] | uncertain significance | 1 | 155900470 | 155900470 | Human | 1 | name |
| 405081493 | CV2930441 | single nucleotide variant | NM_006912.6(RIT1):c.470G>A (p.Ser157Asn) | Noonan syndrome 8 [RCV003582084] | uncertain significance | 1 | 155900578 | 155900578 | Human | 1 | name |
| 405064065 | CV2981734 | single nucleotide variant | NM_006912.6(RIT1):c.617G>A (p.Arg206Lys) | Noonan syndrome 8 [RCV003741830] | uncertain significance | 1 | 155900431 | 155900431 | Human | 1 | name |
| 405067152 | CV2997283 | single nucleotide variant | NM_006912.6(RIT1):c.561G>C (p.Lys187Asn) | Noonan syndrome 8 [RCV003742070] | uncertain significance | 1 | 155900487 | 155900487 | Human | 1 | name |
| 405069100 | CV3007419 | single nucleotide variant | NM_006912.6(RIT1):c.446G>C (p.Gly149Ala) | Noonan syndrome 8 [RCV003742236] | uncertain significance | 1 | 155900602 | 155900602 | Human | 1 | name |
| 405074914 | CV3054010 | single nucleotide variant | NM_006912.6(RIT1):c.565G>A (p.Ala189Thr) | Noonan syndrome 8 [RCV003742549] | uncertain significance | 1 | 155900483 | 155900483 | Human | 1 | name |
| 405056280 | CV3072011 | single nucleotide variant | NM_006912.6(RIT1):c.547C>T (p.Arg183Cys) | Noonan syndrome 8 [RCV003741076] | uncertain significance | 1 | 155900501 | 155900501 | Human | 1 | name |
| 405047936 | CV3137861 | single nucleotide variant | NM_006912.6(RIT1):c.417A>T (p.Lys139Asn) | Noonan syndrome 8 [RCV003831899] | uncertain significance | 1 | 155904323 | 155904323 | Human | 1 | name |
| 405224750 | CV3142241 | single nucleotide variant | NM_006912.6(RIT1):c.505T>A (p.Tyr169Asn) | Noonan syndrome 8 [RCV003847780] | uncertain significance | 1 | 155900543 | 155900543 | Human | 1 | name |
| 405203561 | CV3143990 | single nucleotide variant | NM_006912.6(RIT1):c.433A>G (p.Thr145Ala) | Cardiovascular phenotype [RCV004987103]|Noonan syndrome 8 [RCV003844780] | uncertain significance | 1 | 155900615 | 155900615 | Human | 1 | name |
| 405174422 | CV3150549 | single nucleotide variant | NM_006912.6(RIT1):c.509A>G (p.Tyr170Cys) | Noonan syndrome 8 [RCV003841823] | uncertain significance | 1 | 155900539 | 155900539 | Human | 1 | name |
| 405244746 | CV3161591 | single nucleotide variant | NM_006912.6(RIT1):c.578T>C (p.Met193Thr) | Noonan syndrome 8 [RCV003868304] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 155900470 | 155900470 | Human | 1 | name |
| 405705591 | CV3224816 | single nucleotide variant | NM_006912.6(RIT1):c.520G>A (p.Val174Ile) | Noonan syndrome 8 [RCV003990196] | uncertain significance | 1 | 155900528 | 155900528 | Human | 1 | name |
| 405752922 | CV3316176 | single nucleotide variant | NM_006912.6(RIT1):c.572T>C (p.Leu191Pro) | Cardiovascular phenotype [RCV004454061] | uncertain significance | 1 | 155900476 | 155900476 | Human | | name |
| 407429170 | CV3413557 | single nucleotide variant | NM_006912.6(RIT1):c.551G>C (p.Arg184Thr) | Noonan syndrome 8 [RCV004594966] | uncertain significance | 1 | 155900497 | 155900497 | Human | 1 | name |
| 407574016 | CV3498365 | single nucleotide variant | NM_006912.6(RIT1):c.371C>T (p.Thr124Ile) | not specified [RCV004702840] | uncertain significance | 1 | 155904369 | 155904369 | Human | | name |
| 408386543 | CV3522573 | single nucleotide variant | NM_006912.6(RIT1):c.317G>A (p.Arg106Gln) | not provided [RCV004767933] | uncertain significance | 1 | 155904423 | 155904423 | Human | | name |
| 596931210 | CV3531543 | single nucleotide variant | NM_006912.6(RIT1):c.602A>T (p.Asn201Ile) | not provided [RCV004781105] | uncertain significance | 1 | 155900446 | 155900446 | Human | | name |
| 12740905 | CV359264 | single nucleotide variant | NM_006912.6(RIT1):c.539G>A (p.Arg180Gln) | Cardiovascular phenotype [RCV004022165]|Noonan syndrome 8 [RCV001850986]|not specified [RCV000413457] | uncertain significance | 1 | 155900509 | 155900509 | Human | 1 | name |
| 597681352 | CV3593731 | single nucleotide variant | NM_006912.6(RIT1):c.541G>C (p.Glu181Gln) | Cardiovascular phenotype [RCV004983319] | uncertain significance | 1 | 155900507 | 155900507 | Human | | name |
| 12837447 | CV364547 | single nucleotide variant | NM_006912.6(RIT1):c.547C>G (p.Arg183Gly) | not provided [RCV000425175] | uncertain significance | 1 | 155900501 | 155900501 | Human | | name |
| 597838523 | CV3758239 | single nucleotide variant | NM_006912.6(RIT1):c.338A>C (p.Glu113Ala) | Noonan syndrome 8 [RCV005086073] | uncertain significance | 1 | 155904402 | 155904402 | Human | 1 | name |
| 597839855 | CV3770369 | single nucleotide variant | NM_006912.6(RIT1):c.638A>G (p.Lys213Arg) | Noonan syndrome 8 [RCV005113670] | uncertain significance | 1 | 155900410 | 155900410 | Human | 1 | name |
| 597839859 | CV3770370 | single nucleotide variant | NM_006912.6(RIT1):c.577A>T (p.Met193Leu) | Noonan syndrome 8 [RCV005113671] | uncertain significance | 1 | 155900471 | 155900471 | Human | 1 | name |
| 597839864 | CV3770371 | single nucleotide variant | NM_006912.6(RIT1):c.413T>C (p.Leu138Pro) | Noonan syndrome 8 [RCV005113672] | uncertain significance | 1 | 155904327 | 155904327 | Human | 1 | name |
| 597839868 | CV3770372 | single nucleotide variant | NM_006912.6(RIT1):c.401A>T (p.Asn134Ile) | Noonan syndrome 8 [RCV005113673] | uncertain significance | 1 | 155904339 | 155904339 | Human | 1 | name |
| 597865199 | CV3792077 | single nucleotide variant | NM_006912.6(RIT1):c.587A>T (p.Lys196Ile) | Noonan syndrome 8 [RCV005139633] | uncertain significance | 1 | 155900461 | 155900461 | Human | 1 | name |
| 597885456 | CV3818294 | single nucleotide variant | NM_006912.6(RIT1):c.644A>C (p.Lys215Thr) | Noonan syndrome 8 [RCV005160555] | uncertain significance | 1 | 155900404 | 155900404 | Human | 1 | name |
| 597931369 | CV3863116 | single nucleotide variant | NM_006912.6(RIT1):c.583A>G (p.Lys195Glu) | Noonan syndrome 8 [RCV005205604] | uncertain significance | 1 | 155900465 | 155900465 | Human | 1 | name |
| 598229814 | CV3899251 | single nucleotide variant | NM_006912.6(RIT1):c.452C>T (p.Ala151Val) | Cardiovascular phenotype [RCV005274243] | uncertain significance | 1 | 155900596 | 155900596 | Human | | name |
| 12887465 | CV390822 | single nucleotide variant | NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) | Cardiovascular phenotype [RCV003298464]|Noonan syndrome 8 [RCV000469107] | uncertain significance | 1 | 155904406 | 155904406 | Human | 1 | name |
| 616936902 | CV4010859 | single nucleotide variant | NM_006912.6(RIT1):c.595C>T (p.Pro199Ser) | Cardiovascular phenotype [RCV005404206] | uncertain significance | 1 | 155900453 | 155900453 | Human | | name |
| 12899450 | CV404947 | single nucleotide variant | NM_006912.6(RIT1):c.508T>C (p.Tyr170His) | not provided [RCV000480230] | uncertain significance | 1 | 155900540 | 155900540 | Human | | name |
| 13797335 | CV552489 | single nucleotide variant | NM_006912.6(RIT1):c.551G>T (p.Arg184Met) | Noonan syndrome 8 [RCV005091990]|not provided [RCV000681131] | uncertain significance | 1 | 155900497 | 155900497 | Human | 1 | name |
| 14707302 | CV626898 | single nucleotide variant | NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) | Cardiovascular phenotype [RCV002332657]|Noonan syndrome 8 [RCV000808742]|not provided [RCV001571706] | likely benign|uncertain significance | 1 | 155900587 | 155900587 | Human | 1 | name |
| 34890936 | CV905875 | single nucleotide variant | NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys) | Noonan syndrome 8 [RCV001323575]|not specified [RCV001174627] | uncertain significance | 1 | 155900542 | 155900542 | Human | 1 | name |
| 34895388 | CV916796 | single nucleotide variant | NM_006912.6(RIT1):c.589T>C (p.Ser197Pro) | Noonan syndrome 8 [RCV001859165]|not provided [RCV005423917]|not specified [RCV001192385] | uncertain significance | 1 | 155900459 | 155900459 | Human | 1 | name |
| 38478695 | CV930058 | single nucleotide variant | NM_006912.6(RIT1):c.367C>T (p.Arg123Cys) | Cardiovascular phenotype [RCV002451435]|Noonan syndrome 8 [RCV001205660]|RASopathy [RCV004761975] | uncertain significance | 1 | 155904373 | 155904373 | Human | 2 | name |
| 40813901 | CV969623 | single nucleotide variant | NM_006912.6(RIT1):c.491C>G (p.Ser164Cys) | Fibrous dysplasia of jaw [RCV001261146]|Noonan syndrome 8 [RCV002537616] | likely benign|uncertain significance | 1 | 155900557 | 155900557 | Human | 2 | name |
| 40813900 | CV969624 | single nucleotide variant | NM_006912.6(RIT1):c.376G>A (p.Asp126Asn) | Cardio-facio-cutaneous syndrome [RCV001261145]|Cardiovascular phenotype [RCV004035388]|Noonan syndrome 8 [RCV001880010]|not provided [RCV003405469] | uncertain significance | 1 | 155904364 | 155904364 | Human | 2 | name |
| 40813899 | CV969625 | single nucleotide variant | NM_006912.6(RIT1):c.313C>T (p.Arg105Cys) | Noonan syndrome 8 [RCV002537615]|Noonan syndrome [RCV001261144] | likely benign|uncertain significance | 1 | 155904427 | 155904427 | Human | 2 | name |
| 126763214 | CV986933 | single nucleotide variant | NM_006912.6(RIT1):c.546A>G (p.Ile182Met) | Noonan syndrome 8 [RCV001300610]|not provided [RCV002281180] | uncertain significance | 1 | 155900502 | 155900502 | Human | 1 | name |
| 126751101 | CV986934 | single nucleotide variant | NM_006912.6(RIT1):c.368G>A (p.Arg123His) | Noonan syndrome 8 [RCV001306970]|not provided [RCV001558902] | likely benign|uncertain significance | 1 | 155904372 | 155904372 | Human | 1 | name |
| 155989105 | CV2066714 | deletion | NM_006912.6(RIT1):c.212_213del (p.Leu71fs) | Noonan syndrome 8 [RCV002842883] | uncertain significance | 1 | 155904755 | 155904756 | Human | 1 | name |
| 127231904 | CV1087488 | microsatellite | NM_006912.6(RIT1):c.659GAAGA[1] (p.Ter220=) | RIT1-related disorder [RCV004746379]|not specified [RCV001420927] | likely benign|uncertain significance | 1 | 155900380 | 155900384 | Human | | name , trait , alternate_id |
| 405084595 | CV2877773 | deletion | NM_006912.6(RIT1):c.604_605del (p.Ser202fs) | Noonan syndrome 8 [RCV003582378] | uncertain significance | 1 | 155900443 | 155900444 | Human | 1 | name |
| 13537315 | CV498091 | microsatellite | NM_006912.6(RIT1):c.644_647del (p.Lys215fs) | Cardiovascular phenotype [RCV002368035]|Noonan syndrome 8 [RCV000655067]|not provided [RCV001722552]|not specified [RCV004586827] | benign|likely benign|uncertain significance | 1 | 155900401 | 155900404 | Human | | name |
| 126734453 | CV986936 | duplication | NM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup) | Noonan syndrome 8 [RCV001304442] | uncertain significance | 1 | 155904733 | 155904734 | Human | 1 | name |
| 401830388 | CV2748063 | indel | NM_006912.6(RIT1):c.653_655delinsCAC (p.Val218_Thr219delinsAlaPro) | not provided [RCV003329670] | uncertain significance | 1 | 155900393 | 155900395 | Human | | name |
| 34891359 | CV906062 | duplication | NM_006912.6(RIT1):c.563_648dup (p.Ser217delinsArgGlnTyrTrpProTrpArgLysAsnLeuSerProLysThrValTyrGlyArgGlyTer) | not specified [RCV001174992] | uncertain significance | 1 | 155900399 | 155900400 | Human | | name |