| 126746061 | CV1015371 | single nucleotide variant | NM_005343.4(HRAS):c.-2C>A | not specified [RCV001328343] | uncertain significance | 11 | 534324 | 534324 | Human | | name |
| 8691300 | CV141260 | single nucleotide variant | NM_005343.4(HRAS):c.*1C>T | HRAS-related disorder [RCV003894980]|not provided [RCV000588758]|not specified [RCV000125382] | benign|likely benign | 11 | 532635 | 532635 | Human | | name , trait , alternate_id |
| 38598423 | CV963282 | single nucleotide variant | NM_005343.4(HRAS):c.-5G>A | not specified [RCV001251409] | uncertain significance | 11 | 534327 | 534327 | Human | | name |
| 150335764 | CV1172267 | single nucleotide variant | NM_005343.4(HRAS):c.*76G>C | not provided [RCV001540698] | likely benign | 11 | 532452 | 532452 | Human | | name |
| 150473467 | CV1217633 | single nucleotide variant | NM_005343.4(HRAS):c.-33G>A | not provided [RCV001615644] | benign | 11 | 534355 | 534355 | Human | | name |
| 8691299 | CV141259 | single nucleotide variant | NM_005343.4(HRAS):c.-10C>T | Costello syndrome [RCV002512524]|Noonan syndrome and Noonan-related syndrome [RCV001813385]|not provided [RCV000509255]|not specified [RCV000154268] | benign|not provided | 11 | 534332 | 534332 | Human | 3 | name |
| 8691299 | CV141259 | single nucleotide variant | NM_005343.4(HRAS):c.-10C>T | Costello syndrome [RCV002512524]|Noonan syndrome and Noonan-related syndrome [RCV001813385]|not provided [RCV000509255]|not specified [RCV000154268] | benign|not provided | 11 | 534332 | 534333 | Human | 3 | name |
| 405654892 | CV3228370 | single nucleotide variant | NM_005343.4(HRAS):c.-17C>T | not specified [RCV003995105] | benign | 11 | 534339 | 534339 | Human | | name |
| 13797394 | CV552664 | single nucleotide variant | NM_005343.4(HRAS):c.-19C>T | not provided [RCV000681168] | likely benign | 11 | 534341 | 534341 | Human | | name |
| 150474726 | CV1217844 | single nucleotide variant | NM_005343.4(HRAS):c.-101C>T | Noonan syndrome and Noonan-related syndrome [RCV001813603]|not provided [RCV001615855] | benign|uncertain significance | 11 | 535463 | 535463 | Human | | name |
| 598122695 | CV3884627 | single nucleotide variant | NM_005343.4(HRAS):c.*5+4A>T | not specified [RCV005237319] | uncertain significance | 11 | 532627 | 532627 | Human | | name |
| 9832734 | CV48920 | single nucleotide variant | NM_005343.4(HRAS):c.*6-2A>C | not specified [RCV000157910] | likely benign | 11 | 532524 | 532524 | Human | | name |
| 127251883 | CV1078344 | single nucleotide variant | NM_005343.4(HRAS):c.112-6C>T | Costello syndrome [RCV001400227] | likely benign | 11 | 533950 | 533950 | Human | 1 | name |
| 127325089 | CV1142410 | deletion | NM_005343.4(HRAS):c.291-9del | Costello syndrome [RCV001505890]|HRAS-related disorder [RCV003948481] | likely benign | 11 | 533621 | 533621 | Human | 1 | name , trait , alternate_id |
| 150462616 | CV1234938 | single nucleotide variant | NM_005343.4(HRAS):c.*5+29C>T | not provided [RCV001649520] | benign | 11 | 532602 | 532602 | Human | | name |
| 150504609 | CV1240788 | single nucleotide variant | NM_005343.4(HRAS):c.*5+24C>T | not provided [RCV001657631] | benign | 11 | 532607 | 532607 | Human | | name |
| 150451692 | CV1260291 | single nucleotide variant | NM_005343.4(HRAS):c.*5+35C>T | not provided [RCV001680781] | benign | 11 | 532596 | 532596 | Human | | name |
| 8691301 | CV141261 | single nucleotide variant | NM_005343.4(HRAS):c.*5+14C>A | not specified [RCV000125383] | benign | 11 | 532617 | 532617 | Human | | name |
| 152122046 | CV1547690 | single nucleotide variant | NM_005343.4(HRAS):c.451-6T>C | Costello syndrome [RCV002081687] | likely benign | 11 | 532761 | 532761 | Human | 1 | name |
| 152147049 | CV1608094 | single nucleotide variant | NM_005343.4(HRAS):c.111+8T>C | Costello syndrome [RCV002178880] | likely benign | 11 | 534204 | 534204 | Human | 1 | name |
| 152142270 | CV1629083 | single nucleotide variant | NM_005343.4(HRAS):c.112-9C>T | Costello syndrome [RCV002100938] | likely benign | 11 | 533953 | 533953 | Human | 1 | name |
| 152159967 | CV1649968 | single nucleotide variant | NM_005343.4(HRAS):c.451-9C>T | Costello syndrome [RCV002159464] | likely benign | 11 | 532764 | 532764 | Human | 1 | name |
| 155676040 | CV1854361 | single nucleotide variant | NM_005343.4(HRAS):c.290+3G>T | Cardiovascular phenotype [RCV002438068]|Costello syndrome [RCV003102855] | uncertain significance | 11 | 533763 | 533763 | Human | 1 | name |
| 156046443 | CV1887503 | single nucleotide variant | NM_005343.4(HRAS):c.450+7C>T | Costello syndrome [RCV003078717] | likely benign|uncertain significance | 11 | 533446 | 533446 | Human | 1 | name |
| 156316703 | CV1901273 | single nucleotide variant | NM_005343.4(HRAS):c.450+9G>A | Costello syndrome [RCV002578989] | likely benign | 11 | 533444 | 533444 | Human | 1 | name |
| 156016331 | CV1993285 | single nucleotide variant | NM_005343.4(HRAS):c.290+7C>T | Costello syndrome [RCV002636482] | likely benign | 11 | 533759 | 533759 | Human | 1 | name |
| 156293414 | CV2152727 | single nucleotide variant | NM_005343.4(HRAS):c.451-4C>G | Costello syndrome [RCV003010060] | likely benign | 11 | 532759 | 532759 | Human | 1 | name |
| 11347570 | CV241156 | single nucleotide variant | NM_005343.4(HRAS):c.290+6C>A | Costello syndrome [RCV000232587] | uncertain significance | 11 | 533760 | 533760 | Human | 1 | name |
| 11348575 | CV241158 | single nucleotide variant | NM_005343.4(HRAS):c.111+6C>T | Cardiovascular phenotype [RCV004020817]|Costello syndrome [RCV000227164] | uncertain significance | 11 | 534206 | 534206 | Human | 1 | name |
| 401723858 | CV2737895 | single nucleotide variant | NM_005343.4(HRAS):c.-53-5G>A | not provided [RCV003315067] | uncertain significance | 11 | 534380 | 534380 | Human | | name |
| 401940292 | CV2832651 | single nucleotide variant | NM_005343.4(HRAS):c.-54+3G>A | Costello syndrome [RCV003448632] | uncertain significance | 11 | 535413 | 535413 | Human | 1 | name |
| 405024673 | CV2890509 | single nucleotide variant | NM_005343.4(HRAS):c.290+3G>A | Costello syndrome [RCV003516258] | uncertain significance | 11 | 533763 | 533763 | Human | 1 | name |
| 405012956 | CV2910151 | single nucleotide variant | NM_005343.4(HRAS):c.291-5C>G | Costello syndrome [RCV003515141] | likely benign | 11 | 533617 | 533617 | Human | 1 | name |
| 402501104 | CV2995985 | single nucleotide variant | NM_005343.4(HRAS):c.290+7C>G | Costello syndrome [RCV003628317] | likely benign | 11 | 533759 | 533759 | Human | 1 | name |
| 404977736 | CV3127260 | single nucleotide variant | NM_005343.4(HRAS):c.450+4A>C | Costello syndrome [RCV003825484] | uncertain significance | 11 | 533449 | 533449 | Human | 1 | name |
| 408375998 | CV3505460 | single nucleotide variant | NM_005343.4(HRAS):c.112-9C>G | Costello syndrome [RCV005103651]|HRAS-related disorder [RCV004726495] | likely benign | 11 | 533953 | 533953 | Human | 1 | name , trait , alternate_id |
| 12846482 | CV371481 | single nucleotide variant | NM_005343.4(HRAS):c.*5+20C>T | not provided [RCV004718629]|not specified [RCV000441723] | benign | 11 | 532611 | 532611 | Human | | name |
| 12841911 | CV374139 | single nucleotide variant | NM_005343.4(HRAS):c.291-8C>T | Costello syndrome [RCV001084880]|not provided [RCV000433431] | likely benign | 11 | 533620 | 533620 | Human | 1 | name |
| 597845472 | CV3765483 | deletion | NM_005343.4(HRAS):c.450+6del | Costello syndrome [RCV005121127] | uncertain significance | 11 | 533447 | 533447 | Human | 1 | name |
| 597862705 | CV3795711 | single nucleotide variant | NM_005343.4(HRAS):c.291-7C>G | Costello syndrome [RCV005136721] | likely benign | 11 | 533619 | 533619 | Human | 1 | name |
| 597905535 | CV3836030 | single nucleotide variant | NM_005343.4(HRAS):c.111+3G>A | Costello syndrome [RCV005179803] | uncertain significance | 11 | 534209 | 534209 | Human | 1 | name |
| 12891199 | CV398664 | single nucleotide variant | NM_005343.4(HRAS):c.451-5C>G | Costello syndrome [RCV001078758]|not provided [RCV000681281] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 532760 | 532760 | Human | 1 | name |
| 617152962 | CV4018516 | single nucleotide variant | NM_005343.4(HRAS):c.*5+11C>A | not specified [RCV005418777] | uncertain significance | 11 | 532620 | 532620 | Human | | name |
| 13479635 | CV442535 | single nucleotide variant | NM_005343.4(HRAS):c.291-6T>G | Costello syndrome [RCV000872282]|HRAS-related disorder [RCV003962443]|Hereditary cancer-predisposing syndrome [RCV002257777]|Large congenital melanocytic nevus [RCV002497006]|RASopathy [RCV000521008]|not specified [RCV001255585] | benign|likely benign | 11 | 533618 | 533618 | Human | 16 | name , trait , alternate_id |
| 13470429 | CV461205 | single nucleotide variant | NM_005343.4(HRAS):c.290+9C>T | Costello syndrome [RCV001425103] | likely benign | 11 | 533757 | 533757 | Human | 1 | name |
| 150485741 | CV48919 | single nucleotide variant | NM_005343.4(HRAS):c.*6-48G>A | not provided [RCV001715658] | benign | 11 | 532570 | 532570 | Human | | name |
| 13536590 | CV503299 | single nucleotide variant | NM_005343.4(HRAS):c.-54+7G>A | not specified [RCV000609219] | likely benign | 11 | 535409 | 535409 | Human | | name |
| 13527898 | CV503676 | single nucleotide variant | NM_005343.4(HRAS):c.451-5C>T | Cardiovascular phenotype [RCV004024985]|Costello syndrome [RCV000637310]|not provided [RCV001698422] | likely benign|uncertain significance | 11 | 532760 | 532760 | Human | 1 | name |
| 13797922 | CV552658 | single nucleotide variant | NM_005343.4(HRAS):c.*5+14C>G | not provided [RCV000680622] | likely benign | 11 | 532617 | 532617 | Human | | name |
| 14691366 | CV621820 | single nucleotide variant | NM_005343.4(HRAS):c.291-9A>G | Costello syndrome [RCV000864531]|not specified [RCV000781471] | likely benign|uncertain significance | 11 | 533621 | 533621 | Human | 1 | name |
| 14706248 | CV652212 | single nucleotide variant | NM_005343.4(HRAS):c.451-3C>T | Costello syndrome [RCV000803345]|not specified [RCV005407973] | uncertain significance | 11 | 532758 | 532758 | Human | 1 | name |
| 14705936 | CV652331 | single nucleotide variant | NM_005343.4(HRAS):c.290+9C>G | Costello syndrome [RCV000802561] | uncertain significance | 11 | 533757 | 533757 | Human | 1 | name |
| 14702869 | CV653976 | single nucleotide variant | NM_005343.4(HRAS):c.451-4C>T | Costello syndrome [RCV000874555]|Noonan syndrome [RCV000824933] | likely benign | 11 | 532759 | 532759 | Human | 2 | name |
| 15137589 | CV695528 | single nucleotide variant | NM_005343.4(HRAS):c.451-8T>C | Costello syndrome [RCV000877025] | likely benign | 11 | 532763 | 532763 | Human | 1 | name |
| 15176688 | CV775696 | single nucleotide variant | NM_005343.4(HRAS):c.111+7C>T | Costello syndrome [RCV001463156] | likely benign | 11 | 534205 | 534205 | Human | 1 | name |
| 15174039 | CV775857 | single nucleotide variant | NM_005343.4(HRAS):c.112-4G>A | Costello syndrome [RCV001416693]|not specified [RCV001797803] | likely benign|uncertain significance | 11 | 533948 | 533948 | Human | 1 | name |
| 15107782 | CV779544 | single nucleotide variant | NM_005343.4(HRAS):c.112-7C>T | Costello syndrome [RCV002066363] | likely benign | 11 | 533951 | 533951 | Human | 1 | name |
| 34896626 | CV917489 | single nucleotide variant | NM_005343.4(HRAS):c.290+1G>C | not specified [RCV001194130] | uncertain significance | 11 | 533765 | 533765 | Human | | name |
| 38457167 | CV959992 | single nucleotide variant | NM_005343.4(HRAS):c.451-6T>G | Costello syndrome [RCV001228584] | likely benign|uncertain significance | 11 | 532761 | 532761 | Human | 1 | name |
| 126740336 | CV994568 | single nucleotide variant | NM_005343.4(HRAS):c.291-3C>T | Costello syndrome [RCV001305262]|Hereditary cancer-predisposing syndrome [RCV002258190] | uncertain significance | 11 | 533615 | 533615 | Human | 2 | name |
| 127266782 | CV1100059 | single nucleotide variant | NM_005343.4(HRAS):c.291-10C>T | Costello syndrome [RCV001440352] | likely benign | 11 | 533622 | 533622 | Human | 1 | name |
| 150340433 | CV1168241 | single nucleotide variant | NM_005343.4(HRAS):c.291-30C>T | not provided [RCV001535365] | benign | 11 | 533642 | 533642 | Human | | name |
| 150509306 | CV1214267 | single nucleotide variant | NM_005343.4(HRAS):c.450+38C>T | not provided [RCV001596788] | benign | 11 | 533415 | 533415 | Human | | name |
| 150462240 | CV1234883 | single nucleotide variant | NM_005343.4(HRAS):c.-54+47C>T | not provided [RCV001649465] | benign | 11 | 535369 | 535369 | Human | | name |
| 150500480 | CV1256106 | single nucleotide variant | NM_005343.4(HRAS):c.450+49G>A | not provided [RCV001676730] | benign | 11 | 533404 | 533404 | Human | | name |
| 151817366 | CV1337424 | single nucleotide variant | NM_005343.4(HRAS):c.112-13T>C | Costello syndrome [RCV001919222] | likely benign | 11 | 533957 | 533957 | Human | 1 | name |
| 151856966 | CV1401962 | single nucleotide variant | NM_005343.4(HRAS):c.111+11C>T | Costello syndrome [RCV002017298] | likely benign|uncertain significance | 11 | 534201 | 534201 | Human | 1 | name |
| 151837109 | CV1416846 | single nucleotide variant | NM_005343.4(HRAS):c.112-10C>A | Costello syndrome [RCV002014909] | likely benign|uncertain significance | 11 | 533954 | 533954 | Human | 1 | name |
| 152117932 | CV1522228 | single nucleotide variant | NM_005343.4(HRAS):c.451-17C>T | Costello syndrome [RCV002081150] | likely benign | 11 | 532772 | 532772 | Human | 1 | name |
| 152159429 | CV1522637 | single nucleotide variant | NM_005343.4(HRAS):c.112-19G>C | Costello syndrome [RCV002140662] | likely benign | 11 | 533963 | 533963 | Human | 1 | name |
| 152057790 | CV1523246 | single nucleotide variant | NM_005343.4(HRAS):c.291-16G>C | Costello syndrome [RCV002167655] | likely benign | 11 | 533628 | 533628 | Human | 1 | name |
| 152152420 | CV1529506 | single nucleotide variant | NM_005343.4(HRAS):c.111+17C>T | Costello syndrome [RCV002202177] | likely benign | 11 | 534195 | 534195 | Human | 1 | name |
| 152126997 | CV1530216 | duplication | NM_005343.4(HRAS):c.112-20dup | Costello syndrome [RCV002198809] | likely benign | 11 | 533963 | 533964 | Human | 1 | name |
| 152110065 | CV1536917 | single nucleotide variant | NM_005343.4(HRAS):c.451-14C>T | Costello syndrome [RCV002215359] | likely benign | 11 | 532769 | 532769 | Human | 1 | name |
| 152116512 | CV1540987 | single nucleotide variant | NM_005343.4(HRAS):c.112-19G>A | Costello syndrome [RCV002197464] | likely benign | 11 | 533963 | 533963 | Human | 1 | name |
| 152149288 | CV1545362 | single nucleotide variant | NM_005343.4(HRAS):c.451-15T>C | Costello syndrome [RCV002121516] | likely benign | 11 | 532770 | 532770 | Human | 1 | name |
| 152075738 | CV1551258 | single nucleotide variant | NM_005343.4(HRAS):c.112-14C>T | Costello syndrome [RCV002192380] | likely benign | 11 | 533958 | 533958 | Human | 1 | name |
| 152123703 | CV1570622 | single nucleotide variant | NM_005343.4(HRAS):c.451-12C>T | Costello syndrome [RCV002217118] | likely benign | 11 | 532767 | 532767 | Human | 1 | name |
| 152033988 | CV1573184 | single nucleotide variant | NM_005343.4(HRAS):c.290+14G>A | Costello syndrome [RCV002187185] | likely benign | 11 | 533752 | 533752 | Human | 1 | name |
| 152053995 | CV1575120 | single nucleotide variant | NM_005343.4(HRAS):c.111+18G>A | Costello syndrome [RCV002109318] | likely benign | 11 | 534194 | 534194 | Human | 1 | name |
| 152113149 | CV1586634 | single nucleotide variant | NM_005343.4(HRAS):c.450+20C>G | Costello syndrome [RCV002197051] | likely benign | 11 | 533433 | 533433 | Human | 1 | name |
| 152026978 | CV1593726 | single nucleotide variant | NM_005343.4(HRAS):c.291-13T>G | Costello syndrome [RCV002104738] | likely benign | 11 | 533625 | 533625 | Human | 1 | name |
| 152176427 | CV1594208 | single nucleotide variant | NM_005343.4(HRAS):c.291-18T>C | Costello syndrome [RCV002164572] | likely benign | 11 | 533630 | 533630 | Human | 1 | name |
| 152082086 | CV1607942 | single nucleotide variant | NM_005343.4(HRAS):c.451-13C>A | Costello syndrome [RCV002193154] | likely benign | 11 | 532768 | 532768 | Human | 1 | name |
| 152087997 | CV1614720 | single nucleotide variant | NM_005343.4(HRAS):c.291-15C>T | Costello syndrome [RCV002093772] | likely benign | 11 | 533627 | 533627 | Human | 1 | name |
| 152043208 | CV1624367 | single nucleotide variant | NM_005343.4(HRAS):c.451-13C>T | Costello syndrome [RCV002126356] | likely benign | 11 | 532768 | 532768 | Human | 1 | name |
| 152141917 | CV1629020 | single nucleotide variant | NM_005343.4(HRAS):c.450+15C>T | Costello syndrome [RCV002100893] | likely benign | 11 | 533438 | 533438 | Human | 1 | name |
| 152115569 | CV1640023 | single nucleotide variant | NM_005343.4(HRAS):c.291-17C>T | Costello syndrome [RCV002080842] | likely benign | 11 | 533629 | 533629 | Human | 1 | name |
| 152123450 | CV1641126 | single nucleotide variant | NM_005343.4(HRAS):c.450+13T>C | Costello syndrome [RCV002098481] | likely benign | 11 | 533440 | 533440 | Human | 1 | name |
| 152101804 | CV1645911 | single nucleotide variant | NM_005343.4(HRAS):c.450+16A>G | Costello syndrome [RCV002173201] | likely benign | 11 | 533437 | 533437 | Human | 1 | name |
| 152038875 | CV1647858 | single nucleotide variant | NM_005343.4(HRAS):c.291-16G>A | Costello syndrome [RCV002087656] | likely benign | 11 | 533628 | 533628 | Human | 1 | name |
| 152115513 | CV1654081 | single nucleotide variant | NM_005343.4(HRAS):c.112-12G>A | Costello syndrome [RCV002097425] | likely benign | 11 | 533956 | 533956 | Human | 1 | name |
| 152124380 | CV1665670 | single nucleotide variant | NM_005343.4(HRAS):c.290+10G>C | Costello syndrome [RCV002198483] | likely benign | 11 | 533756 | 533756 | Human | 1 | name |
| 152125316 | CV1665783 | single nucleotide variant | NM_005343.4(HRAS):c.291-15C>A | Costello syndrome [RCV002198596] | likely benign | 11 | 533627 | 533627 | Human | 1 | name |
| 9690632 | CV174802 | single nucleotide variant | NM_005343.4(HRAS):c.450+84C>A | not specified [RCV000156318] | uncertain significance | 11 | 533369 | 533369 | Human | | name |
| 9691714 | CV175215 | single nucleotide variant | NM_005343.4(HRAS):c.112-10C>T | Costello syndrome [RCV000637313]|not specified [RCV000150833] | likely benign | 11 | 533954 | 533954 | Human | 1 | name |
| 156405714 | CV1884567 | single nucleotide variant | NM_005343.4(HRAS):c.112-14C>G | Costello syndrome [RCV003070110] | likely benign | 11 | 533958 | 533958 | Human | 1 | name |
| 156046674 | CV1887518 | single nucleotide variant | NM_005343.4(HRAS):c.451-19C>T | Costello syndrome [RCV003078725] | likely benign | 11 | 532774 | 532774 | Human | 1 | name |
| 156411107 | CV1892920 | single nucleotide variant | NM_005343.4(HRAS):c.112-11T>A | Costello syndrome [RCV003072336] | uncertain significance | 11 | 533955 | 533955 | Human | 1 | name |
| 156330206 | CV1954038 | single nucleotide variant | NM_005343.4(HRAS):c.450+20C>T | Costello syndrome [RCV002579954] | likely benign | 11 | 533433 | 533433 | Human | 1 | name |
| 156035025 | CV2002596 | single nucleotide variant | NM_005343.4(HRAS):c.450+14C>T | Costello syndrome [RCV002658816] | likely benign | 11 | 533439 | 533439 | Human | 1 | name |
| 156274898 | CV2014890 | single nucleotide variant | NM_005343.4(HRAS):c.450+18C>A | Costello syndrome [RCV002715106] | likely benign | 11 | 533435 | 533435 | Human | 1 | name |
| 156074101 | CV2029213 | single nucleotide variant | NM_005343.4(HRAS):c.290+19G>C | Costello syndrome [RCV002760412] | likely benign | 11 | 533747 | 533747 | Human | 1 | name |
| 156315560 | CV2086013 | single nucleotide variant | NM_005343.4(HRAS):c.451-20T>G | Costello syndrome [RCV002898970] | likely benign | 11 | 532775 | 532775 | Human | 1 | name |
| 156026702 | CV2139217 | single nucleotide variant | NM_005343.4(HRAS):c.112-17G>T | Costello syndrome [RCV002998955] | likely benign | 11 | 533961 | 533961 | Human | 1 | name |
| 155964988 | CV2155923 | single nucleotide variant | NM_005343.4(HRAS):c.112-18A>T | Costello syndrome [RCV003015653] | likely benign | 11 | 533962 | 533962 | Human | 1 | name |
| 156351689 | CV2190347 | single nucleotide variant | NM_005343.4(HRAS):c.111+12G>A | Costello syndrome [RCV003048383] | likely benign | 11 | 534200 | 534200 | Human | 1 | name |
| 405016332 | CV2856476 | single nucleotide variant | NM_005343.4(HRAS):c.451-16A>G | Costello syndrome [RCV003515472] | likely benign | 11 | 532771 | 532771 | Human | 1 | name |
| 405015602 | CV2859078 | single nucleotide variant | NM_005343.4(HRAS):c.290+16C>T | Costello syndrome [RCV003515370] | likely benign | 11 | 533750 | 533750 | Human | 1 | name |
| 405004453 | CV2889088 | single nucleotide variant | NM_005343.4(HRAS):c.290+15G>A | Costello syndrome [RCV003514181] | likely benign | 11 | 533751 | 533751 | Human | 1 | name |
| 405010631 | CV2915442 | single nucleotide variant | NM_005343.4(HRAS):c.290+15G>C | Costello syndrome [RCV003514925] | likely benign | 11 | 533751 | 533751 | Human | 1 | name |
| 405013631 | CV2921187 | single nucleotide variant | NM_005343.4(HRAS):c.450+19C>T | Costello syndrome [RCV003515202] | likely benign | 11 | 533434 | 533434 | Human | 1 | name |
| 402496845 | CV2965888 | single nucleotide variant | NM_005343.4(HRAS):c.111+15G>C | Costello syndrome [RCV003627839] | likely benign | 11 | 534197 | 534197 | Human | 1 | name |
| 402497112 | CV2966200 | single nucleotide variant | NM_005343.4(HRAS):c.290+19G>T | Costello syndrome [RCV003627867] | likely benign | 11 | 533747 | 533747 | Human | 1 | name |
| 405221846 | CV3158182 | single nucleotide variant | NM_005343.4(HRAS):c.290+11T>C | Costello syndrome [RCV003863678] | likely benign | 11 | 533755 | 533755 | Human | 1 | name |
| 405249485 | CV3170095 | single nucleotide variant | NM_005343.4(HRAS):c.451-14C>A | Costello syndrome [RCV003869724] | likely benign | 11 | 532769 | 532769 | Human | 1 | name |
| 405000808 | CV3183978 | single nucleotide variant | NM_005343.4(HRAS):c.291-11C>T | Costello syndrome [RCV003882561] | likely benign | 11 | 533623 | 533623 | Human | 1 | name |
| 12846731 | CV371488 | single nucleotide variant | NM_005343.4(HRAS):c.450+18C>T | Costello syndrome [RCV002059560]|not provided [RCV000442192] | likely benign | 11 | 533435 | 533435 | Human | 1 | name |
| 12839713 | CV374147 | single nucleotide variant | NM_005343.4(HRAS):c.-53-17A>G | not provided [RCV000429334] | benign|likely benign | 11 | 534392 | 534392 | Human | | name |
| 597969557 | CV3753399 | single nucleotide variant | NM_005343.4(HRAS):c.451-13C>G | Costello syndrome [RCV005083884] | likely benign | 11 | 532768 | 532768 | Human | 1 | name |
| 597854672 | CV3778875 | single nucleotide variant | NM_005343.4(HRAS):c.450+12C>T | Costello syndrome [RCV005129220] | likely benign | 11 | 533441 | 533441 | Human | 1 | name |
| 597854763 | CV3778923 | single nucleotide variant | NM_005343.4(HRAS):c.112-11T>C | Costello syndrome [RCV005129268] | likely benign | 11 | 533955 | 533955 | Human | 1 | name |
| 597926002 | CV3856468 | single nucleotide variant | NM_005343.4(HRAS):c.290+20C>T | Costello syndrome [RCV005200533] | likely benign | 11 | 533746 | 533746 | Human | 1 | name |
| 150485706 | CV48899 | single nucleotide variant | NM_005343.4(HRAS):c.-53-10T>C | not provided [RCV001715651] | benign | 11 | 534385 | 534385 | Human | | name |
| 8608134 | CV48902 | single nucleotide variant | NM_005343.4(HRAS):c.111+15G>A | Costello syndrome [RCV002054538]|not provided [RCV001636610]|not specified [RCV000038454] | benign | 11 | 534197 | 534197 | Human | 1 | name |
| 150485731 | CV48903 | single nucleotide variant | NM_005343.4(HRAS):c.111+50C>G | not provided [RCV001715656] | benign | 11 | 534162 | 534162 | Human | | name |
| 150468204 | CV48904 | single nucleotide variant | NM_005343.4(HRAS):c.111+75C>G | not provided [RCV001650464] | benign | 11 | 534137 | 534137 | Human | | name |
| 13538494 | CV503876 | single nucleotide variant | NM_005343.4(HRAS):c.291-17C>G | Costello syndrome [RCV003767572]|not specified [RCV000611909] | likely benign | 11 | 533629 | 533629 | Human | 1 | name |
| 13529657 | CV503878 | single nucleotide variant | NM_005343.4(HRAS):c.111+14C>T | Costello syndrome [RCV002064333]|not specified [RCV000600392] | likely benign | 11 | 534198 | 534198 | Human | 1 | name |
| 13796762 | CV552659 | single nucleotide variant | NM_005343.4(HRAS):c.451-48C>T | not provided [RCV000680739] | likely benign | 11 | 532803 | 532803 | Human | | name |
| 15116581 | CV744533 | single nucleotide variant | NM_005343.4(HRAS):c.451-10C>T | Costello syndrome [RCV000895227] | likely benign | 11 | 532765 | 532765 | Human | 1 | name |
| 15194268 | CV775739 | single nucleotide variant | NM_005343.4(HRAS):c.111+10G>A | Costello syndrome [RCV003514442] | likely benign | 11 | 534202 | 534202 | Human | 1 | name |
| 38597919 | CV861315 | duplication | NM_005343.4(HRAS):c.450+38dup | Squamous cell lung carcinoma [RCV001250978] | uncertain significance | 11 | 533414 | 533415 | Human | 2 | name |
| 38597921 | CV861316 | single nucleotide variant | NM_005343.4(HRAS):c.450+35A>C | Squamous cell lung carcinoma [RCV001250979] | uncertain significance | 11 | 533418 | 533418 | Human | 2 | name |
| 38597923 | CV861317 | single nucleotide variant | NM_005343.4(HRAS):c.450+31A>G | Squamous cell lung carcinoma [RCV001250980] | uncertain significance | 11 | 533422 | 533422 | Human | 2 | name |
| 38597924 | CV861318 | single nucleotide variant | NM_005343.4(HRAS):c.111+18G>C | Squamous cell lung carcinoma [RCV001250981] | uncertain significance | 11 | 534194 | 534194 | Human | 2 | name |
| 34891285 | CV906055 | single nucleotide variant | NM_005343.4(HRAS):c.450+17C>T | Costello syndrome [RCV002559679]|not specified [RCV001174936] | likely benign|uncertain significance | 11 | 533436 | 533436 | Human | 1 | name |
| 34896633 | CV917487 | single nucleotide variant | NM_005343.4(HRAS):c.450+20C>A | Costello syndrome [RCV002069249]|not specified [RCV001194133] | likely benign|uncertain significance | 11 | 533433 | 533433 | Human | 1 | name |
| 34896629 | CV917488 | single nucleotide variant | NM_005343.4(HRAS):c.290+10G>A | Costello syndrome [RCV002559226]|not specified [RCV001194131] | likely benign|uncertain significance | 11 | 533756 | 533756 | Human | 1 | name |
| 40903250 | CV975806 | single nucleotide variant | NM_005343.4(HRAS):c.112-13T>A | Costello syndrome [RCV002069390]|not provided [RCV001683760]|not specified [RCV001269170] | likely benign|uncertain significance | 11 | 533957 | 533957 | Human | 1 | name |
| 150514185 | CV1228096 | single nucleotide variant | NM_005343.4(HRAS):c.451-224G>A | not provided [RCV001638374] | benign | 11 | 532979 | 532979 | Human | | name |
| 9693607 | CV175213 | single nucleotide variant | NM_005343.4(HRAS):c.450+171C>T | not specified [RCV000156659] | not provided | 11 | 533282 | 533282 | Human | | name |
| 401946258 | CV2839621 | single nucleotide variant | NM_005343.4(HRAS):c.450+181G>A | Epidermolytic nevus [RCV003458963] | uncertain significance | 11 | 533272 | 533272 | Human | | name |
| 405274707 | CV3209588 | single nucleotide variant | NM_005343.4(HRAS):c.450+170T>G | HRAS-related disorder [RCV003951848] | likely benign | 11 | 533283 | 533283 | Human | | name , trait , alternate_id |
| 12848431 | CV371486 | single nucleotide variant | NM_005343.4(HRAS):c.450+174G>A | HRAS-related disorder [RCV003902493]|not provided [RCV000445288] | likely benign | 11 | 533279 | 533279 | Human | | name , trait , alternate_id |
| 13796639 | CV552660 | single nucleotide variant | NM_005343.4(HRAS):c.451-168T>G | not provided [RCV000680678] | benign | 11 | 532923 | 532923 | Human | | name |
| 13797546 | CV552661 | single nucleotide variant | NM_005343.4(HRAS):c.451-282C>T | not provided [RCV000681305] | benign | 11 | 533037 | 533037 | Human | | name |
| 13796765 | CV552662 | single nucleotide variant | NM_005343.4(HRAS):c.451-341G>A | not provided [RCV000680741] | likely benign | 11 | 533096 | 533096 | Human | | name |
| 151805012 | CV1444278 | deletion | NM_005343.4(HRAS):c.110_111+5del | Costello syndrome [RCV001918065] | uncertain significance | 11 | 534207 | 534213 | Human | 1 | name |
| 8568000 | CV38866 | duplication | NM_005343.4(HRAS):c.110_111+1dup | Costello syndrome [RCV000022797] | pathogenic | 11 | 534210 | 534211 | Human | 1 | name |
| 12901611 | CV408385 | microsatellite | NM_005343.4(HRAS):c.-95CGGCCC[1] | not specified [RCV000485121] | benign | 11 | 535446 | 535451 | Human | | name |
| 150536418 | CV1293057 | microsatellite | NM_005343.4(HRAS):c.-54+103CGG[6] | not provided [RCV001762843] | benign | 11 | 535290 | 535295 | Human | | name |
| 152157092 | CV1668956 | deletion | NM_176795.5(HRAS):c.451-12_451del | not specified [RCV002223165] | uncertain significance | 11 | 533358 | 533370 | Human | | name |
| 402503552 | CV3016782 | deletion | NM_005343.4(HRAS):c.440_450+16del | Costello syndrome [RCV003628571] | uncertain significance | 11 | 533437 | 533463 | Human | 1 | name |
| 152158732 | CV1529100 | single nucleotide variant | NM_005343.4(HRAS):c.6G>A (p.Thr2=) | Cardiovascular phenotype [RCV002373015]|Costello syndrome [RCV002159247] | likely benign | 11 | 534317 | 534317 | Human | 1 | name |
| 15170412 | CV779542 | microsatellite | NM_005343.4(HRAS):c.291-4_291-3del | Costello syndrome [RCV001401902] | likely benign | 11 | 533615 | 533616 | Human | | name |
| 26905478 | CV852362 | microsatellite | NM_005343.4(HRAS):c.112-7_112-5del | Costello syndrome [RCV001037002] | likely benign|uncertain significance | 11 | 533949 | 533951 | Human | | name |
| 127245650 | CV1078346 | single nucleotide variant | NM_005343.4(HRAS):c.15G>A (p.Lys5=) | Cardiovascular phenotype [RCV002404980]|Costello syndrome [RCV001416541] | likely benign | 11 | 534308 | 534308 | Human | 1 | name |
| 150409896 | CV1191238 | single nucleotide variant | NM_005343.4(HRAS):c.24G>C (p.Val8=) | Costello syndrome [RCV002072165]|not provided [RCV001565820] | likely benign | 11 | 534299 | 534299 | Human | 1 | name |
| 152086419 | CV1573882 | duplication | NM_005343.4(HRAS):c.451-22_451-8dup | Costello syndrome [RCV002149986] | likely benign | 11 | 532762 | 532763 | Human | 1 | name |
| 152035260 | CV1590349 | single nucleotide variant | NM_005343.4(HRAS):c.12T>C (p.Tyr4=) | Costello syndrome [RCV002205476] | likely benign | 11 | 534311 | 534311 | Human | 1 | name |
| 155689800 | CV1850591 | single nucleotide variant | NM_005343.4(HRAS):c.21G>C (p.Val7=) | Cardiovascular phenotype [RCV002425716]|Costello syndrome [RCV003098707]|not provided [RCV002466758] | likely benign|uncertain significance | 11 | 534302 | 534302 | Human | 1 | name |
| 12890998 | CV398321 | single nucleotide variant | NM_005343.4(HRAS):c.16C>T (p.Leu6=) | Cardiovascular phenotype [RCV002411554]|Costello syndrome [RCV001473659] | likely benign | 11 | 534307 | 534307 | Human | 1 | name |
| 38597854 | CV964672 | deletion | NM_005343.4(HRAS):c.112-59_*6-51del | Costello syndrome [RCV001253224] | uncertain significance | 11 | 532573 | 534003 | Human | 1 | name |
| 127233370 | CV1078345 | single nucleotide variant | NM_005343.4(HRAS):c.99C>T (p.Asp33=) | Costello syndrome [RCV001413845] | likely benign | 11 | 534224 | 534224 | Human | 1 | name |
| 127276422 | CV1100066 | single nucleotide variant | NM_005343.4(HRAS):c.55C>T (p.Leu19=) | Costello syndrome [RCV001443802] | likely benign | 11 | 534268 | 534268 | Human | 1 | name |
| 127323781 | CV1121550 | single nucleotide variant | NM_005343.4(HRAS):c.33C>T (p.Ala11=) | Costello syndrome [RCV001467991] | likely benign | 11 | 534290 | 534290 | Human | 1 | name |
| 127298609 | CV1121551 | single nucleotide variant | NM_005343.4(HRAS):c.30C>T (p.Gly10=) | Costello syndrome [RCV001453365] | likely benign | 11 | 534293 | 534293 | Human | 1 | name |
| 151804301 | CV1444150 | single nucleotide variant | NM_005343.4(HRAS):c.5C>G (p.Thr2Arg) | Costello syndrome [RCV001917995] | uncertain significance | 11 | 534318 | 534318 | Human | 1 | name |
| 9690198 | CV174804 | single nucleotide variant | NM_005343.4(HRAS):c.45C>T (p.Gly15=) | Costello syndrome [RCV000818776]|HRAS-related disorder [RCV003952786]|Hereditary cancer-predisposing syndrome [RCV002257458]|not provided [RCV000585962]|not specified [RCV000155869] | likely benign|uncertain significance | 11 | 534278 | 534278 | Human | 2 | name , trait , alternate_id |
| 9689178 | CV175216 | single nucleotide variant | NM_005343.4(HRAS):c.36C>A (p.Gly12=) | not specified [RCV000154620] | not provided | 11 | 534287 | 534287 | Human | | name |
| 156359400 | CV1904226 | duplication | NM_005343.4(HRAS):c.25dup (p.Val9fs) | Costello syndrome [RCV002581623] | uncertain significance | 11 | 534297 | 534298 | Human | 1 | name |
| 11039904 | CV223774 | single nucleotide variant | NM_005343.4(HRAS):c.36C>T (p.Gly12=) | Costello syndrome [RCV000207496]|HRAS-related disorder [RCV003927887]|Noonan syndrome and Noonan-related syndrome [RCV001813428]|RASopathy [RCV000522904]|not provided [RCV000586057] | pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 534287 | 534287 | Human | 2 | name , trait , alternate_id |
| 11347479 | CV241159 | single nucleotide variant | NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) | Costello syndrome [RCV000232309] | uncertain significance | 11 | 534319 | 534319 | Human | 1 | name |
| 11544859 | CV254211 | single nucleotide variant | NM_005343.4(HRAS):c.57G>C (p.Leu19=) | Cardiovascular phenotype [RCV002356348]|Costello syndrome [RCV000874891]|not specified [RCV000244358] | likely benign | 11 | 534266 | 534266 | Human | 1 | name |
| 11547182 | CV254212 | single nucleotide variant | NM_005343.4(HRAS):c.42G>A (p.Val14=) | Cardiovascular phenotype [RCV002328743]|Costello syndrome [RCV000462480]|not provided [RCV001597013]|not specified [RCV000247431] | likely benign | 11 | 534281 | 534281 | Human | 1 | name |
| 405009272 | CV2860501 | single nucleotide variant | NM_005343.4(HRAS):c.45C>G (p.Gly15=) | Costello syndrome [RCV003514704] | likely benign | 11 | 534278 | 534278 | Human | 1 | name |
| 402494219 | CV3074836 | single nucleotide variant | NM_005343.4(HRAS):c.67C>T (p.Leu23=) | Costello syndrome [RCV003627545] | likely benign | 11 | 534256 | 534256 | Human | 1 | name |
| 12844300 | CV372233 | single nucleotide variant | NM_005343.4(HRAS):c.54G>A (p.Ala18=) | Cardiovascular phenotype [RCV002348170]|Costello syndrome [RCV001084746]|not provided [RCV000437756]|not specified [RCV001175031] | benign|likely benign | 11 | 534269 | 534269 | Human | 1 | name |
| 597930703 | CV3851987 | single nucleotide variant | NM_005343.4(HRAS):c.48G>A (p.Lys16=) | Costello syndrome [RCV005204967] | likely benign | 11 | 534275 | 534275 | Human | 1 | name |
| 8608147 | CV48901 | single nucleotide variant | NM_005343.4(HRAS):c.81T>C (p.His27=) | Cardiovascular phenotype [RCV002426537]|Costello syndrome [RCV000659682]|Noonan syndrome and Noonan-related syndrome [RCV001813233]|RASopathy [RCV000149841]|Squamous cell lung carcinoma [RCV001250943]|not provided [RCV000509400]|not specified [RCV000038468] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided | 11 | 534242 | 534242 | Human | 4 | name |
| 13528930 | CV503881 | single nucleotide variant | NM_005343.4(HRAS):c.84T>C (p.Phe28=) | Costello syndrome [RCV001463449]|not specified [RCV000600165] | likely benign | 11 | 534239 | 534239 | Human | 1 | name |
| 13605872 | CV526310 | single nucleotide variant | NM_005343.4(HRAS):c.96C>T (p.Tyr32=) | Cardiovascular phenotype [RCV002386025]|Costello syndrome [RCV000637312]|not provided [RCV001564192]|not specified [RCV000781470] | likely benign|uncertain significance | 11 | 534227 | 534227 | Human | 1 | name |
| 13796557 | CV552665 | deletion | NM_005343.4(HRAS):c.-53-40_-53-29del | not provided [RCV000680644] | benign | 11 | 534404 | 534415 | Human | | name |
| 13796559 | CV552666 | deletion | NM_005343.4(HRAS):c.-53-40_-53-35del | not provided [RCV000680646] | benign | 11 | 534410 | 534415 | Human | | name |
| 14728459 | CV640158 | single nucleotide variant | NM_005343.4(HRAS):c.5C>T (p.Thr2Met) | Costello syndrome [RCV000816525] | uncertain significance | 11 | 534318 | 534318 | Human | 1 | name |
| 15124549 | CV693060 | single nucleotide variant | NM_005343.4(HRAS):c.90C>T (p.Asp30=) | Costello syndrome [RCV000874791] | likely benign | 11 | 534233 | 534233 | Human | 1 | name |
| 15105657 | CV693061 | single nucleotide variant | NM_005343.4(HRAS):c.69G>A (p.Leu23=) | Costello syndrome [RCV000871145]|not specified [RCV001420954] | likely benign | 11 | 534254 | 534254 | Human | 1 | name |
| 15119704 | CV693062 | single nucleotide variant | NM_005343.4(HRAS):c.60C>T (p.Thr20=) | Costello syndrome [RCV000873928] | likely benign | 11 | 534263 | 534263 | Human | 1 | name |
| 15105267 | CV701803 | single nucleotide variant | NM_005343.4(HRAS):c.54G>C (p.Ala18=) | Costello syndrome [RCV001502715] | likely benign | 11 | 534269 | 534269 | Human | 1 | name |
| 127238397 | CV1078342 | single nucleotide variant | NM_005343.4(HRAS):c.261C>T (p.Thr87=) | Cardiovascular phenotype [RCV002456666]|Costello syndrome [RCV001415096]|not provided [RCV004801008] | likely benign|uncertain significance | 11 | 533795 | 533795 | Human | 1 | name |
| 127268581 | CV1078343 | single nucleotide variant | NM_005343.4(HRAS):c.159G>A (p.Leu53=) | Costello syndrome [RCV001404417] | likely benign | 11 | 533897 | 533897 | Human | 1 | name |
| 127279433 | CV1100060 | single nucleotide variant | NM_005343.4(HRAS):c.288C>T (p.Tyr96=) | Costello syndrome [RCV001445773] | likely benign | 11 | 533768 | 533768 | Human | 1 | name |
| 127246123 | CV1100061 | single nucleotide variant | NM_005343.4(HRAS):c.279C>T (p.Ile93=) | Costello syndrome [RCV001435343] | likely benign | 11 | 533777 | 533777 | Human | 1 | name |
| 127267667 | CV1100062 | single nucleotide variant | NM_005343.4(HRAS):c.222C>G (p.Thr74=) | Costello syndrome [RCV001429768] | likely benign | 11 | 533834 | 533834 | Human | 1 | name |
| 127258569 | CV1100063 | single nucleotide variant | NM_005343.4(HRAS):c.198C>T (p.Ala66=) | Costello syndrome [RCV001438160] | likely benign | 11 | 533858 | 533858 | Human | 1 | name |
| 127283141 | CV1100064 | single nucleotide variant | NM_005343.4(HRAS):c.147G>A (p.Glu49=) | Cardiovascular phenotype [RCV002396039]|Costello syndrome [RCV001448313]|not specified [RCV005237822] | likely benign | 11 | 533909 | 533909 | Human | 1 | name |
| 127282231 | CV1100065 | single nucleotide variant | NM_005343.4(HRAS):c.123G>C (p.Arg41=) | Cardiovascular phenotype [RCV002384695]|Costello syndrome [RCV001447692] | likely benign | 11 | 533933 | 533933 | Human | 1 | name |
| 127335421 | CV1121543 | single nucleotide variant | NM_005343.4(HRAS):c.297G>A (p.Gln99=) | Cardiovascular phenotype [RCV002439133]|Costello syndrome [RCV001474289] | likely benign | 11 | 533606 | 533606 | Human | 1 | name |
| 127294375 | CV1121544 | single nucleotide variant | NM_005343.4(HRAS):c.258C>T (p.Asn86=) | Costello syndrome [RCV001452227] | likely benign | 11 | 533798 | 533798 | Human | 1 | name |
| 127318402 | CV1121545 | single nucleotide variant | NM_005343.4(HRAS):c.255C>T (p.Asn85=) | Cardiovascular phenotype [RCV002432305]|Costello syndrome [RCV001466181] | likely benign | 11 | 533801 | 533801 | Human | 1 | name |
| 127292911 | CV1121546 | single nucleotide variant | NM_005343.4(HRAS):c.235C>T (p.Leu79=) | Costello syndrome [RCV001459074] | likely benign | 11 | 533821 | 533821 | Human | 1 | name |
| 127292836 | CV1121547 | single nucleotide variant | NM_005343.4(HRAS):c.192C>T (p.Tyr64=) | Cardiovascular phenotype [RCV004995846]|Costello syndrome [RCV001459048]|HRAS-related disorder [RCV003965911]|not specified [RCV002282553] | likely benign | 11 | 533864 | 533864 | Human | 1 | name , trait , alternate_id |
| 127314533 | CV1121548 | single nucleotide variant | NM_005343.4(HRAS):c.177C>G (p.Ala59=) | Costello syndrome [RCV001457720] | likely benign | 11 | 533879 | 533879 | Human | 1 | name |
| 127334957 | CV1121549 | single nucleotide variant | NM_005343.4(HRAS):c.165C>T (p.Ile55=) | Costello syndrome [RCV001473943] | likely benign | 11 | 533891 | 533891 | Human | 1 | name |
| 127336650 | CV1142411 | single nucleotide variant | NM_005343.4(HRAS):c.273G>A (p.Glu91=) | Costello syndrome [RCV001492334] | likely benign | 11 | 533783 | 533783 | Human | 1 | name |
| 127299817 | CV1142412 | single nucleotide variant | NM_005343.4(HRAS):c.202C>A (p.Arg68=) | Costello syndrome [RCV001498417] | likely benign | 11 | 533854 | 533854 | Human | 1 | name |
| 151748478 | CV1353219 | single nucleotide variant | NM_005343.4(HRAS):c.11A>C (p.Tyr4Ser) | Costello syndrome [RCV001912723] | uncertain significance | 11 | 534312 | 534312 | Human | 1 | name |
| 152050475 | CV1527775 | single nucleotide variant | NM_005343.4(HRAS):c.166C>T (p.Leu56=) | Costello syndrome [RCV002089090] | likely benign | 11 | 533890 | 533890 | Human | 1 | name |
| 152143507 | CV1557016 | single nucleotide variant | NM_005343.4(HRAS):c.138T>C (p.Ile46=) | Costello syndrome [RCV002200887] | likely benign | 11 | 533918 | 533918 | Human | 1 | name |
| 152035125 | CV1582924 | single nucleotide variant | NM_005343.4(HRAS):c.210G>A (p.Gln70=) | Costello syndrome [RCV002106859] | likely benign | 11 | 533846 | 533846 | Human | 1 | name |
| 152133337 | CV1585229 | single nucleotide variant | NM_005343.4(HRAS):c.237G>T (p.Leu79=) | Costello syndrome [RCV002083168] | likely benign | 11 | 533819 | 533819 | Human | 1 | name |
| 152050269 | CV1585702 | single nucleotide variant | NM_005343.4(HRAS):c.150G>T (p.Thr50=) | Cardiovascular phenotype [RCV002391278]|Costello syndrome [RCV002145600] | likely benign | 11 | 533906 | 533906 | Human | 1 | name |
| 152097117 | CV1587042 | single nucleotide variant | NM_005343.4(HRAS):c.249C>G (p.Ala83=) | Costello syndrome [RCV002078499] | likely benign | 11 | 533807 | 533807 | Human | 1 | name |
| 152159805 | CV1588277 | single nucleotide variant | NM_005343.4(HRAS):c.195C>T (p.Ser65=) | Costello syndrome [RCV002180731] | likely benign | 11 | 533861 | 533861 | Human | 1 | name |
| 152047720 | CV1619952 | single nucleotide variant | NM_005343.4(HRAS):c.126G>A (p.Lys42=) | Costello syndrome [RCV002207120] | likely benign | 11 | 533930 | 533930 | Human | 1 | name |
| 155643744 | CV1709540 | single nucleotide variant | NM_005343.4(HRAS):c.243G>T (p.Val81=) | Prostate cancer, hereditary, 1 [RCV002292423] | uncertain significance | 11 | 533813 | 533813 | Human | 1 | name |
| 155721355 | CV1776444 | single nucleotide variant | NM_005343.4(HRAS):c.19G>T (p.Val7Leu) | Costello syndrome [RCV002296714] | uncertain significance | 11 | 534304 | 534304 | Human | 1 | name |
| 9832731 | CV179418 | single nucleotide variant | NM_005343.4(HRAS):c.177C>T (p.Ala59=) | Cardiovascular phenotype [RCV002408711]|Costello syndrome [RCV000470354]|Hereditary cancer-predisposing syndrome [RCV002258815]|Noonan syndrome and Noonan-related syndrome [RCV001813409]|not provided [RCV003390854]|not specified [RCV000157907] | benign|likely benign|conflicting interpretations of pathogenicity | 11 | 533879 | 533879 | Human | 2 | name |
| 155680009 | CV1853143 | single nucleotide variant | NM_005343.4(HRAS):c.276C>T (p.Asp92=) | Cardiovascular phenotype [RCV002439594] | likely benign | 11 | 533780 | 533780 | Human | | name |
| 156419401 | CV1932766 | single nucleotide variant | NM_005343.4(HRAS):c.294G>A (p.Glu98=) | Costello syndrome [RCV002612633] | likely benign|uncertain significance | 11 | 533609 | 533609 | Human | 1 | name |
| 156409573 | CV1961851 | single nucleotide variant | NM_005343.4(HRAS):c.243G>A (p.Val81=) | Costello syndrome [RCV002586862] | likely benign | 11 | 533813 | 533813 | Human | 1 | name |
| 156077388 | CV2011852 | single nucleotide variant | NM_005343.4(HRAS):c.183G>A (p.Gln61=) | Cardiovascular phenotype [RCV005351004]|Costello syndrome [RCV002705877] | likely benign | 11 | 533873 | 533873 | Human | 1 | name |
| 155950882 | CV2013982 | single nucleotide variant | NM_005343.4(HRAS):c.157T>C (p.Leu53=) | Costello syndrome [RCV002686015] | likely benign | 11 | 533899 | 533899 | Human | 1 | name |
| 155904587 | CV2084082 | single nucleotide variant | NM_005343.4(HRAS):c.150G>C (p.Thr50=) | Costello syndrome [RCV002858072] | likely benign | 11 | 533906 | 533906 | Human | 1 | name |
| 156265213 | CV2100898 | single nucleotide variant | NM_005343.4(HRAS):c.291G>A (p.Arg97=) | Costello syndrome [RCV002877412] | likely benign|uncertain significance | 11 | 533612 | 533612 | Human | 1 | name |
| 156161815 | CV2135397 | single nucleotide variant | NM_005343.4(HRAS):c.225G>C (p.Gly75=) | Cardiovascular phenotype [RCV005343565]|Costello syndrome [RCV002983034] | likely benign | 11 | 533831 | 533831 | Human | 1 | name |
| 11546795 | CV254210 | single nucleotide variant | NM_005343.4(HRAS):c.171T>C (p.Asp57=) | Costello syndrome [RCV000871401]|Hereditary cancer-predisposing syndrome [RCV002258867]|not specified [RCV000246927] | likely benign|uncertain significance | 11 | 533885 | 533885 | Human | 2 | name |
| 405004725 | CV2882696 | single nucleotide variant | NM_005343.4(HRAS):c.189G>A (p.Glu63=) | Costello syndrome [RCV003514223] | likely benign | 11 | 533867 | 533867 | Human | 1 | name |
| 402488381 | CV2943811 | single nucleotide variant | NM_005343.4(HRAS):c.135C>T (p.Val45=) | Cardiovascular phenotype [RCV004992683]|Costello syndrome [RCV003626915] | likely benign | 11 | 533921 | 533921 | Human | 1 | name |
| 402499794 | CV2990236 | single nucleotide variant | NM_005343.4(HRAS):c.105T>C (p.Thr35=) | Costello syndrome [RCV003628152] | likely benign | 11 | 534218 | 534218 | Human | 1 | name |
| 597717828 | CV3689505 | single nucleotide variant | NM_005343.4(HRAS):c.213C>T (p.Tyr71=) | Cardiovascular phenotype [RCV004991730]|Costello syndrome [RCV005110359] | likely benign | 11 | 533843 | 533843 | Human | 1 | name |
| 12837120 | CV371490 | single nucleotide variant | NM_005343.4(HRAS):c.234C>T (p.Phe78=) | Costello syndrome [RCV002059794]|not provided [RCV000424616] | likely benign | 11 | 533822 | 533822 | Human | 1 | name |
| 12839006 | CV371492 | single nucleotide variant | NM_005343.4(HRAS):c.150G>A (p.Thr50=) | Costello syndrome [RCV002061575]|not provided [RCV000428021] | likely benign | 11 | 533906 | 533906 | Human | 1 | name |
| 12836353 | CV372231 | single nucleotide variant | NM_005343.4(HRAS):c.228G>A (p.Glu76=) | Costello syndrome [RCV002063360]|not provided [RCV000423251] | likely benign | 11 | 533828 | 533828 | Human | 1 | name |
| 12844471 | CV372462 | single nucleotide variant | NM_005343.4(HRAS):c.162C>T (p.Asp54=) | Costello syndrome [RCV003514353]|HRAS-related disorder [RCV003897851]|not specified [RCV000438047] | likely benign | 11 | 533894 | 533894 | Human | 1 | name , trait , alternate_id |
| 597842597 | CV3775042 | single nucleotide variant | NM_005343.4(HRAS):c.285G>A (p.Gln95=) | Costello syndrome [RCV005117868] | likely benign | 11 | 533771 | 533771 | Human | 1 | name |
| 598192735 | CV3971947 | single nucleotide variant | NM_005343.4(HRAS):c.204G>A (p.Arg68=) | Cardiovascular phenotype [RCV005354513] | likely benign | 11 | 533852 | 533852 | Human | | name |
| 12888755 | CV398226 | single nucleotide variant | NM_005343.4(HRAS):c.219C>T (p.Arg73=) | Cardiovascular phenotype [RCV002431368]|Costello syndrome [RCV000471546]|HRAS-related disorder [RCV003899987]|not provided [RCV003392297]|not specified [RCV005239056] | likely benign | 11 | 533837 | 533837 | Human | 1 | name , trait , alternate_id |
| 12882820 | CV398227 | single nucleotide variant | NM_005343.4(HRAS):c.156G>A (p.Leu52=) | Cardiovascular phenotype [RCV004992255]|Costello syndrome [RCV000460380]|not provided [RCV001613309] | benign|likely benign | 11 | 533900 | 533900 | Human | 1 | name |
| 12880796 | CV398679 | single nucleotide variant | NM_005343.4(HRAS):c.120C>T (p.Tyr40=) | Costello syndrome [RCV000456682]|not provided [RCV001310581] | likely benign | 11 | 533936 | 533936 | Human | 1 | name |
| 13488113 | CV461207 | single nucleotide variant | NM_005343.4(HRAS):c.156G>T (p.Leu52=) | Cardiovascular phenotype [RCV003380607]|Costello syndrome [RCV001497959] | likely benign | 11 | 533900 | 533900 | Human | 1 | name |
| 13521868 | CV487541 | single nucleotide variant | NM_005343.4(HRAS):c.10T>C (p.Tyr4His) | not provided [RCV000590817] | uncertain significance | 11 | 534313 | 534313 | Human | | name |
| 13519923 | CV487566 | single nucleotide variant | NM_005343.4(HRAS):c.222C>T (p.Thr74=) | Cardiovascular phenotype [RCV002431742]|Costello syndrome [RCV001082400]|not provided [RCV000586814] | benign|likely benign | 11 | 533834 | 533834 | Human | 1 | name |
| 13520279 | CV494970 | single nucleotide variant | NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) | Costello syndrome [RCV001322927]|Large congenital melanocytic nevus [RCV002483665]|not specified [RCV000598510] | uncertain significance | 11 | 534312 | 534312 | Human | 7 | name |
| 13605871 | CV526264 | single nucleotide variant | NM_005343.4(HRAS):c.153C>T (p.Cys51=) | Cardiovascular phenotype [RCV002404781]|Costello syndrome [RCV000637311] | likely benign | 11 | 533903 | 533903 | Human | 1 | name |
| 13605869 | CV526298 | single nucleotide variant | NM_005343.4(HRAS):c.141T>C (p.Asp47=) | Cardiovascular phenotype [RCV002388047]|Costello syndrome [RCV000637306]|not specified [RCV001194129] | likely benign | 11 | 533915 | 533915 | Human | 1 | name |
| 13605873 | CV526306 | single nucleotide variant | NM_005343.4(HRAS):c.102C>T (p.Pro34=) | Cardiovascular phenotype [RCV002386026]|Costello syndrome [RCV000637314]|Noonan syndrome and Noonan-related syndrome [RCV001813533] | likely benign | 11 | 534221 | 534221 | Human | 1 | name |
| 8608135 | CV54465 | single nucleotide variant | NM_005343.4(HRAS):c.249C>T (p.Ala83=) | Cardiovascular phenotype [RCV003162337]|Costello syndrome [RCV000531092]|HRAS-related disorder [RCV003964858]|Hereditary cancer-predisposing syndrome [RCV002257382]|not provided [RCV004597734]|not specified [RCV000038455] | likely benign | 11 | 533807 | 533807 | Human | 2 | name , trait , alternate_id |
| 8608136 | CV54466 | single nucleotide variant | NM_005343.4(HRAS):c.282C>T (p.His94=) | Cardiovascular phenotype [RCV002433504]|Costello syndrome [RCV001458613]|HRAS-related disorder [RCV003894865]|not provided [RCV005243107]|not specified [RCV000038456] | likely benign | 11 | 533774 | 533774 | Human | 1 | name , trait , alternate_id |
| 15138651 | CV687787 | single nucleotide variant | NM_005343.4(HRAS):c.174C>T (p.Thr58=) | Cardiovascular phenotype [RCV002409032]|Costello syndrome [RCV000864872] | likely benign | 11 | 533882 | 533882 | Human | 1 | name |
| 15157081 | CV687788 | single nucleotide variant | NM_005343.4(HRAS):c.102C>G (p.Pro34=) | Costello syndrome [RCV001493838]|not provided [RCV000868366] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 534221 | 534221 | Human | 1 | name |
| 15130463 | CV693059 | single nucleotide variant | NM_005343.4(HRAS):c.237G>A (p.Leu79=) | Cardiovascular phenotype [RCV002454037]|Costello syndrome [RCV000875822] | likely benign | 11 | 533819 | 533819 | Human | 1 | name |
| 15132061 | CV712873 | single nucleotide variant | NM_005343.4(HRAS):c.144G>A (p.Gly48=) | Costello syndrome [RCV001483338] | likely benign | 11 | 533912 | 533912 | Human | 1 | name |
| 15195861 | CV752702 | single nucleotide variant | NM_005343.4(HRAS):c.231C>T (p.Gly77=) | Costello syndrome [RCV000911535] | likely benign | 11 | 533825 | 533825 | Human | 1 | name |
| 126735089 | CV1009740 | single nucleotide variant | NM_005343.4(HRAS):c.426C>A (p.Ile142=) | Costello syndrome [RCV001324473] | likely benign|uncertain significance | 11 | 533477 | 533477 | Human | 1 | name |
| 126916954 | CV1047288 | duplication | NM_005343.4(HRAS):c.108dup (p.Glu37fs) | Costello syndrome [RCV001371797]|not provided [RCV005256783] | uncertain significance | 11 | 534214 | 534215 | Human | 1 | name |
| 127282745 | CV1078337 | single nucleotide variant | NM_005343.4(HRAS):c.483T>C (p.Arg161=) | Costello syndrome [RCV001411333] | likely benign | 11 | 532723 | 532723 | Human | 1 | name |
| 127283302 | CV1078338 | single nucleotide variant | NM_005343.4(HRAS):c.420C>T (p.Pro140=) | Costello syndrome [RCV001411688]|not specified [RCV005419122] | likely benign | 11 | 533483 | 533483 | Human | 1 | name |
| 127253537 | CV1078339 | single nucleotide variant | NM_005343.4(HRAS):c.399C>T (p.Leu133=) | Costello syndrome [RCV001400583] | likely benign | 11 | 533504 | 533504 | Human | 1 | name |
| 127262861 | CV1078340 | single nucleotide variant | NM_005343.4(HRAS):c.390T>G (p.Ala130=) | Costello syndrome [RCV001402800] | likely benign | 11 | 533513 | 533513 | Human | 1 | name |
| 127277283 | CV1078341 | single nucleotide variant | NM_005343.4(HRAS):c.375G>C (p.Val125=) | Costello syndrome [RCV001407667] | likely benign | 11 | 533528 | 533528 | Human | 1 | name |
| 127275652 | CV1100055 | single nucleotide variant | NM_005343.4(HRAS):c.438C>A (p.Ala146=) | Costello syndrome [RCV001432469] | likely benign | 11 | 533465 | 533465 | Human | 1 | name |
| 127271403 | CV1100056 | single nucleotide variant | NM_005343.4(HRAS):c.417C>T (p.Ile139=) | Costello syndrome [RCV001430947] | likely benign | 11 | 533486 | 533486 | Human | 1 | name |
| 127277918 | CV1100057 | single nucleotide variant | NM_005343.4(HRAS):c.414C>A (p.Gly138=) | Costello syndrome [RCV001444684] | likely benign | 11 | 533489 | 533489 | Human | 1 | name |
| 127272257 | CV1100058 | single nucleotide variant | NM_005343.4(HRAS):c.318G>A (p.Ser106=) | Cardiovascular phenotype [RCV004995815]|Costello syndrome [RCV001442126] | likely benign | 11 | 533585 | 533585 | Human | 1 | name |
| 127315195 | CV1121538 | single nucleotide variant | NM_005343.4(HRAS):c.567C>G (p.Ser189=) | Costello syndrome [RCV001465161] | likely benign | 11 | 532639 | 532639 | Human | 1 | name |
| 127299309 | CV1121539 | single nucleotide variant | NM_005343.4(HRAS):c.489C>A (p.Ile163=) | Costello syndrome [RCV001453562] | likely benign | 11 | 532717 | 532717 | Human | 1 | name |
| 127305161 | CV1121540 | single nucleotide variant | NM_005343.4(HRAS):c.396C>T (p.Asp132=) | Costello syndrome [RCV001455181] | likely benign | 11 | 533507 | 533507 | Human | 1 | name |
| 127324653 | CV1121541 | single nucleotide variant | NM_005343.4(HRAS):c.393G>A (p.Gln131=) | Costello syndrome [RCV001468249] | likely benign | 11 | 533510 | 533510 | Human | 1 | name |
| 127293456 | CV1121542 | single nucleotide variant | NM_005343.4(HRAS):c.366A>G (p.Ala122=) | Costello syndrome [RCV001459233] | likely benign | 11 | 533537 | 533537 | Human | 1 | name |
| 127326639 | CV1142405 | single nucleotide variant | NM_005343.4(HRAS):c.465C>T (p.Ala155=) | Costello syndrome [RCV001486095] | likely benign | 11 | 532741 | 532741 | Human | 1 | name |
| 127316498 | CV1142406 | single nucleotide variant | NM_005343.4(HRAS):c.435G>C (p.Ser145=) | Costello syndrome [RCV001503034] | likely benign | 11 | 533468 | 533468 | Human | 1 | name |
| 127302193 | CV1142407 | single nucleotide variant | NM_005343.4(HRAS):c.402C>G (p.Ala134=) | Costello syndrome [RCV001499031] | likely benign | 11 | 533501 | 533501 | Human | 1 | name |
| 127332035 | CV1142408 | single nucleotide variant | NM_005343.4(HRAS):c.360G>C (p.Leu120=) | Cardiovascular phenotype [RCV002456867]|Costello syndrome [RCV001489223] | likely benign | 11 | 533543 | 533543 | Human | 1 | name |
| 127327297 | CV1142409 | single nucleotide variant | NM_005343.4(HRAS):c.345G>A (p.Gly115=) | Costello syndrome [RCV001506532] | likely benign | 11 | 533558 | 533558 | Human | 1 | name |
| 150428518 | CV1187758 | single nucleotide variant | NM_176795.5(HRAS):c.501G>A (p.Pro167=) | not provided [RCV001562363] | likely benign | 11 | 533308 | 533308 | Human | | name |
| 150502400 | CV1254518 | single nucleotide variant | NM_176795.5(HRAS):c.498C>G (p.Pro166=) | not provided [RCV001677220] | likely benign | 11 | 533311 | 533311 | Human | | name |
| 151845901 | CV1341917 | single nucleotide variant | NM_005343.4(HRAS):c.44G>C (p.Gly15Ala) | Costello syndrome [RCV001922109] | uncertain significance | 11 | 534279 | 534279 | Human | 1 | name |
| 151853779 | CV1376363 | single nucleotide variant | NM_005343.4(HRAS):c.88G>A (p.Asp30Asn) | Costello syndrome [RCV001996287] | uncertain significance | 11 | 534235 | 534235 | Human | 1 | name |
| 151713422 | CV1384111 | single nucleotide variant | NM_005343.4(HRAS):c.99C>A (p.Asp33Glu) | Costello syndrome [RCV001908473] | uncertain significance | 11 | 534224 | 534224 | Human | 1 | name |
| 151823285 | CV1385471 | single nucleotide variant | NM_005343.4(HRAS):c.375G>A (p.Val125=) | Costello syndrome [RCV001975953] | likely benign|uncertain significance | 11 | 533528 | 533528 | Human | 1 | name |
| 151769521 | CV1410600 | single nucleotide variant | NM_005343.4(HRAS):c.543C>T (p.Cys181=) | Costello syndrome [RCV001988101] | likely benign|uncertain significance | 11 | 532663 | 532663 | Human | 1 | name |
| 151800661 | CV1474888 | single nucleotide variant | NM_005343.4(HRAS):c.414C>T (p.Gly138=) | Costello syndrome [RCV001952892] | likely benign|uncertain significance | 11 | 533489 | 533489 | Human | 1 | name |
| 152086907 | CV1531848 | single nucleotide variant | NM_005343.4(HRAS):c.540C>T (p.Gly180=) | Costello syndrome [RCV002077104] | likely benign | 11 | 532666 | 532666 | Human | 1 | name |
| 152170961 | CV1536771 | single nucleotide variant | NM_005343.4(HRAS):c.342G>C (p.Val114=) | Costello syndrome [RCV002183336] | likely benign | 11 | 533561 | 533561 | Human | 1 | name |
| 152145122 | CV1543231 | single nucleotide variant | NM_005343.4(HRAS):c.447G>A (p.Arg149=) | Costello syndrome [RCV002178605] | likely benign | 11 | 533456 | 533456 | Human | 1 | name |
| 152094078 | CV1561416 | single nucleotide variant | NM_005343.4(HRAS):c.324C>T (p.Asp108=) | Costello syndrome [RCV002094596] | likely benign | 11 | 533579 | 533579 | Human | 1 | name |
| 152175999 | CV1562141 | single nucleotide variant | NM_005343.4(HRAS):c.564C>G (p.Leu188=) | Costello syndrome [RCV002164139] | likely benign | 11 | 532642 | 532642 | Human | 1 | name |
| 152088874 | CV1563001 | single nucleotide variant | NM_005343.4(HRAS):c.304C>A (p.Arg102=) | Costello syndrome [RCV002113793] | likely benign | 11 | 533599 | 533599 | Human | 1 | name |
| 152057659 | CV1567358 | single nucleotide variant | NM_005343.4(HRAS):c.315C>T (p.Asp105=) | Costello syndrome [RCV002146422]|not specified [RCV005239293] | likely benign | 11 | 533588 | 533588 | Human | 1 | name |
| 152148758 | CV1569121 | single nucleotide variant | NM_005343.4(HRAS):c.462T>C (p.Asp154=) | Cardiovascular phenotype [RCV002337232]|Costello syndrome [RCV002220462] | likely benign | 11 | 532744 | 532744 | Human | 1 | name |
| 152059484 | CV1597646 | single nucleotide variant | NM_005343.4(HRAS):c.480G>C (p.Val160=) | Costello syndrome [RCV002128170] | likely benign | 11 | 532726 | 532726 | Human | 1 | name |
| 152137719 | CV1603782 | single nucleotide variant | NM_005343.4(HRAS):c.495G>A (p.Gln165=) | Costello syndrome [RCV002218948] | likely benign | 11 | 532711 | 532711 | Human | 1 | name |
| 152156235 | CV1615731 | single nucleotide variant | NM_005343.4(HRAS):c.408C>T (p.Ser136=) | Costello syndrome [RCV002158888] | likely benign | 11 | 533495 | 533495 | Human | 1 | name |
| 152041040 | CV1627807 | single nucleotide variant | NM_005343.4(HRAS):c.459G>A (p.Glu153=) | Costello syndrome [RCV002188265] | likely benign | 11 | 532747 | 532747 | Human | 1 | name |
| 152104703 | CV1658732 | single nucleotide variant | NM_005343.4(HRAS):c.555G>A (p.Lys185=) | Costello syndrome [RCV002152245] | likely benign | 11 | 532651 | 532651 | Human | 1 | name |
| 152122799 | CV1664282 | single nucleotide variant | NM_005343.4(HRAS):c.300C>T (p.Ile100=) | Cardiovascular phenotype [RCV002434578]|Costello syndrome [RCV002154476] | likely benign | 11 | 533603 | 533603 | Human | 1 | name |
| 155643741 | CV1709537 | deletion | NM_005343.4(HRAS):c.146del (p.Glu49fs) | Prostate cancer, hereditary, 1 [RCV002292420] | uncertain significance | 11 | 533910 | 533910 | Human | 1 | name |
| 9689988 | CV175217 | single nucleotide variant | NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) | Cardiovascular phenotype [RCV004019863]|Costello syndrome [RCV000694918]|not specified [RCV000155632] | uncertain significance | 11 | 534292 | 534292 | Human | 1 | name |
| 9831513 | CV179419 | single nucleotide variant | NM_005343.4(HRAS):c.38G>T (p.Gly13Val) | Costello syndrome [RCV000590121]|KA-like vemurafenib-induced squamous lesions [RCV001849323]|Large congenital melanocytic nevus [RCV004562310]|Linear nevus sebaceous syndrome [RCV004767097]|Lip and oral cavity carcinoma [RCV001255688]|not provided [RCV000157914] | pathogenic|likely pathogenic | 11 | 534285 | 534285 | Human | 7 | name |
| 156363736 | CV1881555 | single nucleotide variant | NM_005343.4(HRAS):c.330C>A (p.Pro110=) | Costello syndrome [RCV003065809] | likely benign | 11 | 533573 | 533573 | Human | 1 | name |
| 156332175 | CV1884536 | single nucleotide variant | NM_005343.4(HRAS):c.438C>T (p.Ala146=) | Costello syndrome [RCV003089864] | likely benign | 11 | 533465 | 533465 | Human | 1 | name |
| 156441481 | CV1944138 | single nucleotide variant | NM_005343.4(HRAS):c.55C>A (p.Leu19Met) | Costello syndrome [RCV003111807] | uncertain significance | 11 | 534268 | 534268 | Human | 1 | name |
| 156122682 | CV1952810 | single nucleotide variant | NM_005343.4(HRAS):c.531T>C (p.Ser177=) | Costello syndrome [RCV002571927] | likely benign | 11 | 532675 | 532675 | Human | 1 | name |
| 156116773 | CV1972862 | single nucleotide variant | NM_005343.4(HRAS):c.567C>T (p.Ser189=) | Costello syndrome [RCV002592978] | likely benign | 11 | 532639 | 532639 | Human | 1 | name |
| 156049046 | CV2006639 | single nucleotide variant | NM_005343.4(HRAS):c.402C>T (p.Ala134=) | Costello syndrome [RCV002659302] | likely benign | 11 | 533501 | 533501 | Human | 1 | name |
| 155947378 | CV2036019 | single nucleotide variant | NM_005343.4(HRAS):c.534C>T (p.Gly178=) | Costello syndrome [RCV002775568] | likely benign | 11 | 532672 | 532672 | Human | 1 | name |
| 156026948 | CV2078177 | single nucleotide variant | NM_005343.4(HRAS):c.540C>A (p.Gly180=) | Costello syndrome [RCV002866882] | likely benign | 11 | 532666 | 532666 | Human | 1 | name |
| 156194757 | CV2175443 | single nucleotide variant | NM_005343.4(HRAS):c.44G>T (p.Gly15Val) | Costello syndrome [RCV003057955] | uncertain significance | 11 | 534279 | 534279 | Human | 1 | name |
| 156396931 | CV2178287 | single nucleotide variant | NM_005343.4(HRAS):c.351G>A (p.Lys117=) | Costello syndrome [RCV003051932] | likely benign | 11 | 533552 | 533552 | Human | 1 | name |
| 11096307 | CV230220 | single nucleotide variant | NM_005343.4(HRAS):c.468C>T (p.Phe156=) | Cardiovascular phenotype [RCV005338112]|Costello syndrome [RCV002517470]|not specified [RCV000223407] | likely benign | 11 | 532738 | 532738 | Human | 1 | name |
| 11349413 | CV241155 | single nucleotide variant | NM_005343.4(HRAS):c.339G>A (p.Leu113=) | Costello syndrome [RCV001490462] | likely benign | 11 | 533564 | 533564 | Human | 1 | name |
| 11543251 | CV254209 | single nucleotide variant | NM_005343.4(HRAS):c.369C>T (p.Arg123=) | Cardiovascular phenotype [RCV002347960]|Costello syndrome [RCV001079542]|Hereditary cancer-predisposing syndrome [RCV002257620]|Noonan syndrome and Noonan-related syndrome [RCV001813437]|RASopathy [RCV000520797]|not provided [RCV000588992]|not specified [RCV000242213] | benign|likely benign | 11 | 533534 | 533534 | Human | 3 | name |
| 11636492 | CV264487 | single nucleotide variant | NM_005343.4(HRAS):c.64C>T (p.Gln22Ter) | not provided [RCV000269895] | likely benign|uncertain significance | 11 | 534259 | 534259 | Human | | name |
| 401766034 | CV2732135 | single nucleotide variant | NM_005343.4(HRAS):c.432C>T (p.Thr144=) | Cardiovascular phenotype [RCV003301684] | likely benign | 11 | 533471 | 533471 | Human | | name |
| 8563222 | CV27639 | single nucleotide variant | NM_005343.4(HRAS):c.35G>T (p.Gly12Val) | Cardiovascular phenotype [RCV004018622]|Costello syndrome [RCV000013432]|Epidermal nevus [RCV000032850]|HRAS-related disorder [RCV003415692]|Malignant tumor of urinary bladder [RCV000013431]|Myopathy, congenital, with excess of muscle spindles [RCV000013433]|not provided [RCV000157912] | pathogenic|likely pathogenic|other | 11 | 534288 | 534288 | Human | 7 | name , trait , alternate_id |
| 8563224 | CV27641 | single nucleotide variant | NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) | Cardiovascular phenotype [RCV002453256]|Costello syndrome [RCV000013435]|Epidermal nevus [RCV003450636]|Epidermal nevus with urothelial cancer, somatic [RCV000022796]|HRAS-related disorder [RCV003398496]|Large congenital melanocytic nevus [RCV004795404]|Lip and oral cavity carcinoma [RCV001255689]|Myopathy, congenital, with excess of muscle spindles [RCV000013436]|Nevus sebaceous [RCV000029209]|Noonan syndrome 1 [RCV003450635]|Noonan syndrome and Noonan-related syndrome [RCV001813185]|RASopathy [RCV000149828]|Rhabdomyosarcoma [RCV001257537]|See cases [RCV003156059]|Wooly hair nevus [RCV000487471]|not provided [RCV000081295] | pathogenic|likely pathogenic|other | 11 | 534289 | 534289 | Human | 22 | name , trait , alternate_id |
| 8563225 | CV27642 | single nucleotide variant | NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) | Costello syndrome [RCV000013437]|Inborn genetic diseases [RCV000623953]|Large congenital melanocytic nevus [RCV000762848]|Noonan syndrome and Noonan-related syndrome [RCV001813186]|Rhabdomyosarcoma [RCV001257536]|not provided [RCV000207503] | pathogenic|likely pathogenic | 11 | 534288 | 534288 | Human | 17 | name |
| 8563226 | CV27643 | single nucleotide variant | NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) | Costello syndrome [RCV000013438]|HRAS-related disorder [RCV003390677]|Large congenital melanocytic nevus [RCV002476960]|Non-immune hydrops fetalis [RCV001376018]|Noonan syndrome and Noonan-related syndrome [RCV001813187]|RASopathy [RCV000781469]|not provided [RC V000157913] | pathogenic|likely pathogenic|not provided | 11 | 534285 | 534285 | Human | 17 | name , trait , alternate_id |
| 8599073 | CV27645 | single nucleotide variant | NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) | Costello syndrome [RCV000013440]|HRAS-related disorder [RCV003421918]|Large congenital melanocytic nevus [RCV000762847]|Linear nevus sebaceous syndrome [RCV004767004]|Noonan syndrome [RCV000678903]|Noonan syndrome and Noonan-related syndrome [RCV001813188]|RASop athy [RCV000149831]|not provided [RCV000207504] | pathogenic|likely pathogenic | 11 | 534286 | 534286 | Human | 16 | name , trait , alternate_id |
| 8563229 | CV27648 | single nucleotide variant | NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) | Costello syndrome [RCV000143898]|Myopathy, congenital, with excess of muscle spindles [RCV000013443]|not provided [RCV000157915] | pathogenic|likely pathogenic | 11 | 534259 | 534259 | Human | 2 | name |
| 8563231 | CV27651 | single nucleotide variant | NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) | Costello syndrome [RCV000038460]|Costello syndrome, severe [RCV000013446]|HRAS-related disorder [RCV004739303]|Lip and oral cavity carcinoma [RCV001255681]|Nevus sebaceous [RCV000029210]|Non-immune hydrops fetalis [RCV001375956]|Noonan syndrome and Noonan-relate d syndrome [RCV001813189]|RASopathy [RCV000149830]|not provided [RCV000212496] | pathogenic|likely pathogenic|other | 11 | 534288 | 534288 | Human | 7 | name , trait , alternate_id |
| 8569126 | CV27652 | single nucleotide variant | NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) | Costello syndrome [RCV000013447]|Epidermal nevus [RCV000032851]|Large congenital melanocytic nevus [RCV000762849]|Nevus sebaceous [RCV000029211]|RASopathy [RCV000149829]|not provided [RCV000212495] | pathogenic|likely pathogenic|other | 11 | 534289 | 534289 | Human | 10 | name |
| 401904006 | CV2806382 | single nucleotide variant | NM_005343.4(HRAS):c.483T>G (p.Arg161=) | not provided [RCV003394672] | likely benign | 11 | 532723 | 532723 | Human | | name |
| 405007991 | CV2863699 | single nucleotide variant | NM_005343.4(HRAS):c.59C>T (p.Thr20Ile) | Costello syndrome [RCV003514667] | uncertain significance | 11 | 534264 | 534264 | Human | 1 | name |
| 405003483 | CV2888703 | single nucleotide variant | NM_005343.4(HRAS):c.342G>A (p.Val114=) | Costello syndrome [RCV003514117] | likely benign | 11 | 533561 | 533561 | Human | 1 | name |
| 402499377 | CV2983125 | single nucleotide variant | NM_005343.4(HRAS):c.91G>C (p.Glu31Gln) | Costello syndrome [RCV003628135] | uncertain significance | 11 | 534232 | 534232 | Human | 1 | name |
| 402490931 | CV3049003 | single nucleotide variant | NM_005343.4(HRAS):c.429G>A (p.Glu143=) | Costello syndrome [RCV003627206] | likely benign | 11 | 533474 | 533474 | Human | 1 | name |
| 402486229 | CV3050208 | single nucleotide variant | NM_005343.4(HRAS):c.474G>C (p.Thr158=) | Costello syndrome [RCV003626581] | likely benign | 11 | 532732 | 532732 | Human | 1 | name |
| 402499551 | CV3077857 | single nucleotide variant | NM_005343.4(HRAS):c.306G>A (p.Arg102=) | Costello syndrome [RCV003628098] | likely benign | 11 | 533597 | 533597 | Human | 1 | name |
| 405010035 | CV3127988 | single nucleotide variant | NM_005343.4(HRAS):c.74A>G (p.Gln25Arg) | Costello syndrome [RCV003828868] | uncertain significance | 11 | 534249 | 534249 | Human | 1 | name |
| 405031586 | CV3130255 | single nucleotide variant | NM_005343.4(HRAS):c.522T>C (p.Pro174=) | Costello syndrome [RCV003830662] | likely benign | 11 | 532684 | 532684 | Human | 1 | name |
| 405145049 | CV3141479 | single nucleotide variant | NM_005343.4(HRAS):c.445C>A (p.Arg149=) | Costello syndrome [RCV003839596] | uncertain significance | 11 | 533458 | 533458 | Human | 1 | name |
| 405292767 | CV3193128 | single nucleotide variant | NM_005343.4(HRAS):c.306G>C (p.Arg102=) | HRAS-related disorder [RCV003964692] | likely benign | 11 | 533597 | 533597 | Human | | name , trait , alternate_id |
| 407528317 | CV3433920 | single nucleotide variant | NM_005343.4(HRAS):c.387G>A (p.Gln129=) | Cardiovascular phenotype [RCV004633109] | likely benign | 11 | 533516 | 533516 | Human | | name |
| 12835378 | CV362840 | single nucleotide variant | NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) | Costello syndrome [RCV002230756] | pathogenic|likely pathogenic | 11 | 534289 | 534289 | Human | 1 | name |
| 12834339 | CV363202 | single nucleotide variant | NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) | Costello syndrome [RCV002524694]|Vascular Tumors Including Pyogenic Granuloma [RCV000662270] | likely pathogenic | 11 | 534286 | 534286 | Human | 1 | name |
| 12835267 | CV363322 | single nucleotide variant | NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) | Acute myeloid leukemia [RCV000424186]|B-cell chronic lymphocytic leukemia [RCV000426316]|Gastric adenocarcinoma [RCV000421384]|Hepatocellular carcinoma [RCV000445345]|Lung adenocarcinoma [RCV000434457]|Malignant neoplasm of body of uterus [RCV000434248]|Multiple myeloma [RCV000442365]|Neoplasm of th e large intestine [RCV000440965]|Neoplasm of uterine cervix [RCV000433957]|Pancreatic adenocarcinoma [RCV000425652] | likely pathogenic | 11 | 534285 | 534285 | Human | 8 | name |
| 12842336 | CV371489 | single nucleotide variant | NM_005343.4(HRAS):c.426C>T (p.Ile142=) | Cardiovascular phenotype [RCV002328927]|Costello syndrome [RCV002524810]|not provided [RCV000434218] | likely benign | 11 | 533477 | 533477 | Human | 1 | name |
| 12836329 | CV372230 | single nucleotide variant | NM_176795.5(HRAS):c.480C>T (p.Ser160=) | not provided [RCV000423204] | likely benign | 11 | 533329 | 533329 | Human | | name |
| 598232052 | CV3893188 | single nucleotide variant | NM_005343.4(HRAS):c.68T>G (p.Leu23Arg) | Costello syndrome [RCV005255547] | likely pathogenic | 11 | 534255 | 534255 | Human | 1 | name |
| 12888890 | CV398222 | single nucleotide variant | NM_005343.4(HRAS):c.537C>T (p.Pro179=) | Cardiovascular phenotype [RCV004992254]|Costello syndrome [RCV000471783]|not provided [RCV001576338] | likely benign | 11 | 532669 | 532669 | Human | 1 | name |
| 12884980 | CV398316 | single nucleotide variant | NM_005343.4(HRAS):c.534C>G (p.Gly178=) | Cardiovascular phenotype [RCV002350036]|Costello syndrome [RCV000464492]|HRAS-related disorder [RCV003970343]|not provided [RCV001575546]|not specified [RCV001420905] | likely benign | 11 | 532672 | 532672 | Human | 1 | name , trait , alternate_id |
| 12883067 | CV398318 | single nucleotide variant | NM_005343.4(HRAS):c.516C>T (p.Asn172=) | Costello syndrome [RCV000460869]|not specified [RCV000610082] | likely benign | 11 | 532690 | 532690 | Human | 1 | name |
| 12885599 | CV398657 | single nucleotide variant | NM_005343.4(HRAS):c.519T>G (p.Pro173=) | Costello syndrome [RCV000465686] | likely benign | 11 | 532687 | 532687 | Human | 1 | name |
| 12883887 | CV398766 | single nucleotide variant | NM_005343.4(HRAS):c.312G>A (p.Lys104=) | Cardiovascular phenotype [RCV004992256]|Costello syndrome [RCV000462463]|not provided [RCV001613310] | likely benign | 11 | 533591 | 533591 | Human | 1 | name |
| 8569127 | CV44227 | single nucleotide variant | NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) | Costello syndrome [RCV001781319]|Epidermal nevus [RCV000032852]|Epidermolytic nevus [RCV003458340]|HRAS-related disorder [RCV004739310]|Linear nevus sebaceous syndrome [RCV000029213]|Lip and oral cavity carcinoma [RCV001255682]|NEVUS SPILUS, SOMATIC [RCV00017300 5]|Nevus sebaceous [RCV000029212]|Non-immune hydrops fetalis [RCV001376004]|Noonan syndrome and Noonan-related syndrome [RCV001813211]|SPITZ NEVUS, SOMATIC [RCV000173006]|cutaneous-skeletal hypophosphatemia syndrome [RCV001849283] | pathogenic|likely pathogenic|other | 11 | 534286 | 534286 | Human | 10 | name , trait , alternate_id |
| 13501393 | CV461200 | single nucleotide variant | NM_005343.4(HRAS):c.474G>A (p.Thr158=) | Cardiovascular phenotype [RCV005338231]|Costello syndrome [RCV001463916] | likely benign | 11 | 532732 | 532732 | Human | 1 | name |
| 13495553 | CV461203 | single nucleotide variant | NM_005343.4(HRAS):c.435G>A (p.Ser145=) | Cardiovascular phenotype [RCV004023889]|Costello syndrome [RCV000537215] | likely benign | 11 | 533468 | 533468 | Human | 1 | name |
| 13473171 | CV462038 | single nucleotide variant | NM_005343.4(HRAS):c.441G>A (p.Lys147=) | Cardiovascular phenotype [RCV002330854]|Costello syndrome [RCV001494759]|not provided [RCV004707323] | likely benign | 11 | 533462 | 533462 | Human | 1 | name |
| 11346165 | CV48910 | single nucleotide variant | NM_005343.4(HRAS):c.309G>A (p.Val103=) | Costello syndrome [RCV000227548]|HRAS-related disorder [RCV003894842]|Noonan syndrome and Noonan-related syndrome [RCV001813235]|RASopathy [RCV000519223]|not provided [RCV001711138] | benign|likely benign | 11 | 533594 | 533594 | Human | 2 | name , trait , alternate_id |
| 8608138 | CV48911 | single nucleotide variant | NM_005343.4(HRAS):c.357C>T (p.Asp119=) | Cardiovascular phenotype [RCV002453280]|Costello syndrome [RCV000227939]|HRAS-related disorder [RCV003924885]|Hereditary cancer-predisposing syndrome [RCV002257371]|Large congenital melanocytic nevus [RCV002477043]|Noonan syndrome and Noonan-related syndrome [RC V001813236]|RASopathy [RCV000522686]|not provided [RCV001711139]|not specified [RCV000038458] | benign|likely benign | 11 | 533546 | 533546 | Human | 16 | name , trait , alternate_id |
| 8608141 | CV48912 | single nucleotide variant | NM_005343.4(HRAS):c.378A>G (p.Glu126=) | Cardiovascular phenotype [RCV002345262]|Costello syndrome [RCV001081660]|Noonan syndrome and Noonan-related syndrome [RCV001813237]|RASopathy [RCV000519017]|not provided [RCV000588072]|not specified [RCV000038462] | benign|likely benign | 11 | 533525 | 533525 | Human | 2 | name |
| 8608144 | CV48916 | single nucleotide variant | NM_005343.4(HRAS):c.477G>A (p.Leu159=) | Cardiovascular phenotype [RCV002336104]|Costello syndrome [RCV000234776]|Hereditary cancer-predisposing syndrome [RCV002257372]|Noonan syndrome and Noonan-related syndrome [RCV001813238]|RASopathy [RCV000522477]|not provided [RCV001538584]|not specified [RCV000038465] | benign|likely benign|conflicting interpretations of pathogenicity | 11 | 532729 | 532729 | Human | 3 | name |
| 13605870 | CV526483 | single nucleotide variant | NM_005343.4(HRAS):c.411C>T (p.Tyr137=) | Costello syndrome [RCV000637307] | likely benign | 11 | 533492 | 533492 | Human | 1 | name |
| 13703160 | CV539147 | single nucleotide variant | NM_005343.4(HRAS):c.44G>A (p.Gly15Asp) | Vascular Tumors Including Pyogenic Granuloma [RCV000662271] | uncertain significance | 11 | 534279 | 534279 | Human | | name |
| 8608137 | CV54467 | single nucleotide variant | NM_005343.4(HRAS):c.330C>T (p.Pro110=) | Cardiovascular phenotype [RCV002321512]|Costello syndrome [RCV000467667]|HRAS-related disorder [RCV004739326]|Large congenital melanocytic nevus [RCV002490523]|Noonan syndrome and Noonan-related syndrome [RCV001813351]|not specified [RCV000038457] | benign|likely benign|conflicting interpretations of pathogenicity | 11 | 533573 | 533573 | Human | 14 | name , trait , alternate_id |
| 8608139 | CV54468 | single nucleotide variant | NM_005343.4(HRAS):c.358C>T (p.Leu120=) | Cardiovascular phenotype [RCV003362675]|Costello syndrome [RCV000457956]|not specified [RCV000038459] | likely benign | 11 | 533545 | 533545 | Human | 1 | name |
| 8608140 | CV54469 | single nucleotide variant | NM_005343.4(HRAS):c.363T>C (p.Ala121=) | Cardiovascular phenotype [RCV004018873]|Costello syndrome [RCV000560800]|Noonan syndrome and Noonan-related syndrome [RCV001813352]|not provided [RCV001659973]|not specified [RCV000038461] | benign|likely benign | 11 | 533540 | 533540 | Human | 1 | name |
| 8608145 | CV54472 | single nucleotide variant | NM_005343.4(HRAS):c.510G>A (p.Lys170=) | Cardiovascular phenotype [RCV003162338]|Costello syndrome [RCV000473658]|RASopathy [RCV000520548]|not specified [RCV000038466] | benign|likely benign|conflicting interpretations of pathogenicity | 11 | 532696 | 532696 | Human | 2 | name |
| 14712555 | CV640157 | single nucleotide variant | NM_005343.4(HRAS):c.41T>G (p.Val14Gly) | Costello syndrome [RCV000810329] | uncertain significance | 11 | 534282 | 534282 | Human | 1 | name |
| 15194390 | CV701802 | single nucleotide variant | NM_005343.4(HRAS):c.492G>A (p.Arg164=) | Costello syndrome [RCV000955635]|not specified [RCV005236479] | likely benign | 11 | 532714 | 532714 | Human | 1 | name |
| 15200610 | CV768485 | single nucleotide variant | NM_005343.4(HRAS):c.423C>T (p.Tyr141=) | Cardiovascular phenotype [RCV004629387]|Costello syndrome [RCV001400667] | likely benign | 11 | 533480 | 533480 | Human | 1 | name |
| 38485103 | CV926275 | single nucleotide variant | NM_005343.4(HRAS):c.97G>A (p.Asp33Asn) | Costello syndrome [RCV001219408] | uncertain significance | 11 | 534226 | 534226 | Human | 1 | name |
| 126728028 | CV1009744 | single nucleotide variant | NM_005343.4(HRAS):c.236T>A (p.Leu79Gln) | Costello syndrome [RCV001312421] | uncertain significance | 11 | 533820 | 533820 | Human | 1 | name |
| 126768148 | CV1009745 | single nucleotide variant | NM_005343.4(HRAS):c.203G>T (p.Arg68Leu) | Costello syndrome [RCV001321198] | uncertain significance | 11 | 533853 | 533853 | Human | 1 | name |
| 126737231 | CV1020875 | single nucleotide variant | NM_005343.4(HRAS):c.134T>A (p.Val45Asp) | Cardiovascular phenotype [RCV003169563]|Costello syndrome [RCV001335259] | uncertain significance | 11 | 533922 | 533922 | Human | 1 | name |
| 126774747 | CV1030305 | single nucleotide variant | NM_005343.4(HRAS):c.260C>T (p.Thr87Ile) | Costello syndrome [RCV001347584] | uncertain significance | 11 | 533796 | 533796 | Human | 1 | name |
| 126913668 | CV1047286 | single nucleotide variant | NM_005343.4(HRAS):c.211T>C (p.Tyr71His) | Costello syndrome [RCV001370190] | uncertain significance | 11 | 533845 | 533845 | Human | 1 | name |
| 126917823 | CV1047287 | single nucleotide variant | NM_005343.4(HRAS):c.202C>G (p.Arg68Gly) | Cardiovascular phenotype [RCV002420839]|Costello syndrome [RCV001372298] | uncertain significance | 11 | 533854 | 533854 | Human | 1 | name |
| 126916897 | CV1047289 | single nucleotide variant | NM_005343.4(HRAS):c.101C>T (p.Pro34Leu) | Costello syndrome [RCV001360851] | uncertain significance | 11 | 534222 | 534222 | Human | 1 | name |
| 151352139 | CV1325102 | single nucleotide variant | NM_005343.4(HRAS):c.175G>T (p.Ala59Ser) | Costello syndrome [RCV002541490]|Noonan syndrome and Noonan-related syndrome [RCV001813657] | uncertain significance | 11 | 533881 | 533881 | Human | 1 | name |
| 151714239 | CV1330556 | single nucleotide variant | NM_005343.4(HRAS):c.278T>C (p.Ile93Thr) | Parathyroid gland adenoma [RCV001843332] | uncertain significance | 11 | 533778 | 533778 | Human | 4 | name |
| 151890890 | CV1346807 | single nucleotide variant | NM_005343.4(HRAS):c.145G>C (p.Glu49Gln) | Costello syndrome [RCV002038934] | uncertain significance | 11 | 533911 | 533911 | Human | 1 | name |
| 151862952 | CV1365172 | single nucleotide variant | NM_005343.4(HRAS):c.136A>G (p.Ile46Val) | Costello syndrome [RCV002017989]|not provided [RCV003332372] | uncertain significance | 11 | 533920 | 533920 | Human | 1 | name |
| 151812531 | CV1376890 | single nucleotide variant | NM_005343.4(HRAS):c.223G>A (p.Gly75Arg) | Costello syndrome [RCV001900092] | uncertain significance | 11 | 533833 | 533833 | Human | 1 | name |
| 151836019 | CV1382991 | single nucleotide variant | NM_005343.4(HRAS):c.285G>C (p.Gln95His) | Costello syndrome [RCV001935564] | uncertain significance | 11 | 533771 | 533771 | Human | 1 | name |
| 151799677 | CV1396584 | deletion | NM_005343.4(HRAS):c.445del (p.Arg149fs) | Costello syndrome [RCV001917597] | uncertain significance | 11 | 533458 | 533458 | Human | 1 | name |
| 151874502 | CV1408420 | single nucleotide variant | NM_005343.4(HRAS):c.202C>T (p.Arg68Trp) | Costello syndrome [RCV001906898]|not provided [RCV003235615] | likely pathogenic|uncertain significance | 11 | 533854 | 533854 | Human | 1 | name |
| 151795093 | CV1435603 | single nucleotide variant | NM_005343.4(HRAS):c.292G>A (p.Glu98Lys) | Costello syndrome [RCV001931785] | uncertain significance | 11 | 533611 | 533611 | Human | 1 | name |
| 151889144 | CV1509500 | single nucleotide variant | NM_005343.4(HRAS):c.107T>C (p.Ile36Thr) | Costello syndrome [RCV001888117] | uncertain significance | 11 | 534216 | 534216 | Human | 1 | name |
| 151861255 | CV1511180 | single nucleotide variant | NM_005343.4(HRAS):c.127C>T (p.Gln43Ter) | Costello syndrome [RCV001959252] | uncertain significance | 11 | 533929 | 533929 | Human | 1 | name |
| 151865163 | CV1511634 | single nucleotide variant | NM_005343.4(HRAS):c.103A>G (p.Thr35Ala) | Costello syndrome [RCV001997641] | uncertain significance | 11 | 534220 | 534220 | Human | 1 | name |
| 151757455 | CV1514193 | single nucleotide variant | NM_005343.4(HRAS):c.115T>A (p.Ser39Thr) | Costello syndrome [RCV001948765] | uncertain significance | 11 | 533941 | 533941 | Human | 1 | name |
| 152122457 | CV1554962 | single nucleotide variant | NM_005343.4(HRAS):c.284A>G (p.Gln95Arg) | Costello syndrome [RCV002198241] | likely benign | 11 | 533772 | 533772 | Human | 1 | name |
| 153002530 | CV1685328 | single nucleotide variant | NM_005343.4(HRAS):c.221C>T (p.Thr74Ile) | Costello syndrome [RCV003774794]|Hereditary cancer-predisposing syndrome [RCV002259278] | uncertain significance | 11 | 533835 | 533835 | Human | 2 | name |
| 9684519 | CV170209 | single nucleotide variant | NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) | Large congenital melanocytic nevus [RCV004796045]|Linear nevus sebaceous syndrome [RCV000148033]|Noonan syndrome and Noonan-related syndrome [RCV001813393]|Salivary gland neoplasm [RCV001844808]|Vascular Tumors Including Pyogenic Granuloma [RCV000662268]|not provided [RCV000157918] | pathogenic|likely pathogenic|uncertain significance|not provided | 11 | 533874 | 533874 | Human | 16 | name |
| 155645940 | CV1709298 | single nucleotide variant | NM_005343.4(HRAS):c.262A>T (p.Lys88Ter) | not provided [RCV002292174] | uncertain significance | 11 | 533794 | 533794 | Human | | name |
| 155643743 | CV1709539 | single nucleotide variant | NM_005343.4(HRAS):c.170A>C (p.Asp57Ala) | Prostate cancer, hereditary, 1 [RCV002292422] | uncertain significance | 11 | 533886 | 533886 | Human | 1 | name |
| 155643745 | CV1709541 | single nucleotide variant | NM_005343.4(HRAS):c.199A>T (p.Met67Leu) | Prostate cancer, hereditary, 1 [RCV002292424] | uncertain significance | 11 | 533857 | 533857 | Human | 1 | name |
| 9832736 | CV179417 | single nucleotide variant | NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) | Costello syndrome [RCV000557317]|not provided [RCV004696860]|not specified [RCV002271424] | likely pathogenic|uncertain significance | 11 | 533853 | 533853 | Human | 1 | name |
| 401722611 | CV1867353 | single nucleotide variant | NM_005343.4(HRAS):c.176C>G (p.Ala59Gly) | RASopathy [RCV003238902] | pathogenic | 11 | 533880 | 533880 | Human | 1 | name |
| 155958320 | CV1873513 | single nucleotide variant | NM_005343.4(HRAS):c.194G>A (p.Ser65Asn) | Costello syndrome [RCV003074548] | uncertain significance | 11 | 533862 | 533862 | Human | 1 | name |
| 156145308 | CV1895080 | single nucleotide variant | NM_005343.4(HRAS):c.178G>C (p.Gly60Arg) | Costello syndrome [RCV003082358] | uncertain significance | 11 | 533878 | 533878 | Human | 1 | name |
| 156197279 | CV1912390 | single nucleotide variant | NM_005343.4(HRAS):c.230G>A (p.Gly77Asp) | Costello syndrome [RCV002595577] | uncertain significance | 11 | 533826 | 533826 | Human | 1 | name |
| 156439209 | CV1944075 | single nucleotide variant | NM_005343.4(HRAS):c.220A>G (p.Thr74Ala) | Costello syndrome [RCV003109166] | uncertain significance | 11 | 533836 | 533836 | Human | 1 | name |
| 156115691 | CV1952324 | single nucleotide variant | NM_005343.4(HRAS):c.250A>G (p.Ile84Val) | Costello syndrome [RCV002571664] | uncertain significance | 11 | 533806 | 533806 | Human | 1 | name |
| 156070788 | CV2018541 | single nucleotide variant | NM_005343.4(HRAS):c.189G>C (p.Glu63Asp) | Costello syndrome [RCV002705677] | uncertain significance | 11 | 533867 | 533867 | Human | 1 | name |
| 156207568 | CV2040325 | single nucleotide variant | NM_005343.4(HRAS):c.122G>C (p.Arg41Pro) | Costello syndrome [RCV002790114] | uncertain significance | 11 | 533934 | 533934 | Human | 1 | name |
| 156155655 | CV2049286 | single nucleotide variant | NM_005343.4(HRAS):c.253A>G (p.Asn85Asp) | Costello syndrome [RCV002801443] | uncertain significance | 11 | 533803 | 533803 | Human | 1 | name |
| 156052197 | CV2064605 | single nucleotide variant | NM_005343.4(HRAS):c.262A>G (p.Lys88Glu) | Costello syndrome [RCV002846474] | uncertain significance | 11 | 533794 | 533794 | Human | 1 | name |
| 156259739 | CV2100536 | duplication | NM_005343.4(HRAS):c.191dup (p.Tyr64Ter) | Costello syndrome [RCV002877228] | uncertain significance | 11 | 533864 | 533865 | Human | 1 | name |
| 156343607 | CV2124097 | single nucleotide variant | NM_005343.4(HRAS):c.215T>C (p.Met72Thr) | Costello syndrome [RCV002939038] | uncertain significance | 11 | 533841 | 533841 | Human | 1 | name |
| 156280288 | CV2137530 | single nucleotide variant | NM_005343.4(HRAS):c.247G>A (p.Ala83Thr) | Costello syndrome [RCV003009575] | uncertain significance | 11 | 533809 | 533809 | Human | 1 | name |
| 156152395 | CV2175438 | single nucleotide variant | NM_005343.4(HRAS):c.151T>C (p.Cys51Arg) | Costello syndrome [RCV003040416] | uncertain significance | 11 | 533905 | 533905 | Human | 1 | name |
| 156285008 | CV2187093 | single nucleotide variant | NM_005343.4(HRAS):c.218G>A (p.Arg73His) | Costello syndrome [RCV003044909] | uncertain significance | 11 | 533838 | 533838 | Human | 1 | name |
| 8563223 | CV27640 | single nucleotide variant | NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) | Epidermal nevus [RCV004562206]|Lip and oral cavity carcinoma [RCV001255683]|Noonan syndrome 3 [RCV000587258]|Spermatocytic seminoma [RCV000022795]|Thyroid cancer, nonmedullary, 2 [RCV000013434]|not provided [RCV000681435] | pathogenic|likely pathogenic|other | 11 | 533875 | 533875 | Human | 7 | name |
| 8563228 | CV27647 | single nucleotide variant | NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) | Costello syndrome [RCV002272015]|Myopathy, congenital, with excess of muscle spindles [RCV000013442]|not provided [RCV000485616] | pathogenic | 11 | 533869 | 533869 | Human | 2 | name |
| 8599074 | CV27649 | single nucleotide variant | NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) | Costello syndrome [RCV000013444]|HRAS-related disorder [RCV004724738]|RASopathy [RCV005252034]|not provided [RCV003221783] | pathogenic | 11 | 533883 | 533883 | Human | 2 | name , trait , alternate_id |
| 405010972 | CV2904416 | single nucleotide variant | NM_005343.4(HRAS):c.131T>C (p.Val44Ala) | Costello syndrome [RCV003514885] | uncertain significance | 11 | 533925 | 533925 | Human | 1 | name |
| 405012219 | CV2913760 | single nucleotide variant | NM_005343.4(HRAS):c.146A>G (p.Glu49Gly) | Costello syndrome [RCV003515072] | uncertain significance | 11 | 533910 | 533910 | Human | 1 | name |
| 405020319 | CV2925424 | single nucleotide variant | NM_005343.4(HRAS):c.122G>A (p.Arg41Gln) | Costello syndrome [RCV003515838] | uncertain significance | 11 | 533934 | 533934 | Human | 1 | name |
| 405021229 | CV2926265 | single nucleotide variant | NM_005343.4(HRAS):c.129G>C (p.Gln43His) | Costello syndrome [RCV003515930] | uncertain significance | 11 | 533927 | 533927 | Human | 1 | name |
| 405021490 | CV2932307 | single nucleotide variant | NM_005343.4(HRAS):c.158T>G (p.Leu53Trp) | Costello syndrome [RCV003515956] | uncertain significance | 11 | 533898 | 533898 | Human | 1 | name |
| 402497335 | CV2976712 | deletion | NM_005343.4(HRAS):c.373del (p.Val125fs) | Costello syndrome [RCV003627893] | uncertain significance | 11 | 533530 | 533530 | Human | 1 | name |
| 402501147 | CV2996237 | single nucleotide variant | NM_005343.4(HRAS):c.158T>A (p.Leu53Ter) | Costello syndrome [RCV003628322] | uncertain significance | 11 | 533898 | 533898 | Human | 1 | name |
| 402501751 | CV3000479 | single nucleotide variant | NM_005343.4(HRAS):c.201G>A (p.Met67Ile) | Costello syndrome [RCV003628373] | uncertain significance | 11 | 533855 | 533855 | Human | 1 | name |
| 402503186 | CV3013202 | single nucleotide variant | NM_005343.4(HRAS):c.197C>T (p.Ala66Val) | Costello syndrome [RCV003628532] | uncertain significance | 11 | 533859 | 533859 | Human | 1 | name |
| 402484831 | CV3041355 | single nucleotide variant | NM_005343.4(HRAS):c.295C>T (p.Gln99Ter) | Costello syndrome [RCV003626439] | uncertain significance | 11 | 533608 | 533608 | Human | 1 | name |
| 402486375 | CV3043658 | single nucleotide variant | NM_005343.4(HRAS):c.221C>G (p.Thr74Ser) | Costello syndrome [RCV003626595] | uncertain significance | 11 | 533835 | 533835 | Human | 1 | name |
| 405029623 | CV3129917 | single nucleotide variant | NM_005343.4(HRAS):c.217C>T (p.Arg73Cys) | Costello syndrome [RCV003830515] | uncertain significance | 11 | 533839 | 533839 | Human | 1 | name |
| 407424973 | CV3411019 | duplication | NM_005343.4(HRAS):c.445dup (p.Arg149fs) | not provided [RCV004588709] | uncertain significance | 11 | 533457 | 533458 | Human | | name |
| 408388147 | CV3520661 | single nucleotide variant | NM_005343.4(HRAS):c.195C>G (p.Ser65Arg) | not provided [RCV004761494] | uncertain significance | 11 | 533861 | 533861 | Human | | name |
| 596927729 | CV3532675 | single nucleotide variant | NM_005343.4(HRAS):c.104C>T (p.Thr35Ile) | not provided [RCV004778773] | uncertain significance | 11 | 534219 | 534219 | Human | | name |
| 12834697 | CV362912 | single nucleotide variant | NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) | Costello syndrome [RCV001372584]|KA-like vemurafenib-induced squamous lesions [RCV001849368]|Lip and oral cavity carcinoma [RCV001255684] | pathogenic|likely pathogenic|uncertain significance | 11 | 533874 | 533874 | Human | 2 | name |
| 12834935 | CV363197 | single nucleotide variant | NM_005343.4(HRAS):c.183G>T (p.Gln61His) | Noonan syndrome 3 [RCV000589258] | likely pathogenic | 11 | 533873 | 533873 | Human | 1 | name |
| 12839001 | CV363198 | single nucleotide variant | NM_005343.4(HRAS):c.183G>C (p.Gln61His) | Neoplasm [RCV000428014] | likely pathogenic | 11 | 533873 | 533873 | Human | 1 | name |
| 12834311 | CV363201 | single nucleotide variant | NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) | Acute myeloid leukemia [RCV000428741]|B-cell chronic lymphocytic leukemia [RCV000424105]|Gastric adenocarcinoma [RCV000435489]|Hepatocellular carcinoma [RCV000440764]|Lung adenocarcinoma [RCV000441832]|Malignant melanoma of skin [RCV000430658]|Malignant neoplasm of body of uterus [RCV000430030]|Mult iple myeloma [RCV000420448]|Neoplasm [RCV000428681]|Neoplasm of the large intestine [RCV000425877]|Pancreatic adenocarcinoma [RCV000419094]|Squamous cell lung carcinoma [RCV000435915]|Thyroid tumor [RCV000435275]|Transitional cell carcinoma of the bladder [RCV000417619] | likely pathogenic | 11 | 533874 | 533874 | Human | 13 | name |
| 12834908 | CV363323 | single nucleotide variant | NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) | Acute myeloid leukemia [RCV000435578]|B-cell chronic lymphocytic leukemia [RCV000420757]|Gastric adenocarcinoma [RCV000431015]|Hepatocellular carcinoma [RCV000427302]|Lung adenocarcinoma [RCV000444619]|Malignant melanoma of skin [RCV000422470]|Malignant neoplasm of body of uterus [RCV000442518]|Mult iple myeloma [RCV000444550]|Neoplasm of the large intestine [RCV000437532]|Pancreatic adenocarcinoma [RCV000423098]|Squamous cell lung carcinoma [RCV000432499]|Thyroid tumor [RCV000424391]|Transitional cell carcinoma of the bladder [RCV000432733] | likely pathogenic | 11 | 533875 | 533875 | Human | 12 | name |
| 12850259 | CV374144 | single nucleotide variant | NM_005343.4(HRAS):c.179G>T (p.Gly60Val) | Costello syndrome [RCV005090865]|Large congenital melanocytic nevus [RCV002060067]|not provided [RCV000443979] | pathogenic | 11 | 533877 | 533877 | Human | 7 | name |
| 597966514 | CV3751597 | single nucleotide variant | NM_005343.4(HRAS):c.139G>A (p.Asp47Asn) | Costello syndrome [RCV005082967] | uncertain significance | 11 | 533917 | 533917 | Human | 1 | name |
| 597904449 | CV3839077 | single nucleotide variant | NM_005343.4(HRAS):c.149C>T (p.Thr50Met) | Costello syndrome [RCV005179162] | uncertain significance | 11 | 533907 | 533907 | Human | 1 | name |
| 12890843 | CV398682 | single nucleotide variant | NM_005343.4(HRAS):c.106A>G (p.Ile36Val) | Costello syndrome [RCV000475424] | uncertain significance | 11 | 534217 | 534217 | Human | 1 | name |
| 9691715 | CV48905 | single nucleotide variant | NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) | Costello syndrome [RCV000150835]|Non-small cell lung carcinoma [RCV000150834]|RASopathy [RCV004760350] | likely pathogenic|conflicting interpretations of pathogenicity | 11 | 533881 | 533881 | Human | 4 | name |
| 9832735 | CV48906 | single nucleotide variant | NM_005343.4(HRAS):c.179G>A (p.Gly60Asp) | Costello syndrome [RCV001387769]|not provided [RCV000157917] | pathogenic | 11 | 533877 | 533877 | Human | 1 | name |
| 9689087 | CV48907 | single nucleotide variant | NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) | Costello syndrome [RCV001085194]|HRAS-related disorder [RCV003944864]|Hereditary cancer-predisposing syndrome [RCV002257370]|Noonan syndrome [RCV001261051]|Noonan syndrome and Noonan-related syndrome [RCV001813234]|RASopathy [RCV000519779]|not provided [RCV00068 0288]|not specified [RCV000154506] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 533799 | 533799 | Human | 4 | name , trait , alternate_id |
| 11039905 | CV48908 | single nucleotide variant | NM_005343.4(HRAS):c.266C>G (p.Ser89Cys) | not provided [RCV000207497] | likely pathogenic | 11 | 533790 | 533790 | Human | | name |
| 9586841 | CV48909 | single nucleotide variant | NM_005343.4(HRAS):c.277A>G (p.Ile93Val) | Costello syndrome [RCV000524082]|Pulmonic stenosis [RCV000143899]|RASopathy [RCV004760351]|not provided [RCV000157920] | likely benign|uncertain significance | 11 | 533779 | 533779 | Human | 4 | name |
| 13527931 | CV513316 | duplication | NM_176795.5(HRAS):c.500dup (p.Pro169fs) | Congenital fibrosis of extraocular muscles [RCV003883157]|Costello syndrome [RCV000625815] | pathogenic|uncertain significance | 11 | 533308 | 533309 | Human | 3 | name |
| 13605867 | CV526481 | duplication | NM_005343.4(HRAS):c.552dup (p.Lys185fs) | Costello syndrome [RCV000637304] | uncertain significance | 11 | 532653 | 532654 | Human | 1 | name |
| 13703159 | CV539145 | single nucleotide variant | NM_005343.4(HRAS):c.145G>A (p.Glu49Lys) | Costello syndrome [RCV002530595]|Vascular Tumors Including Pyogenic Granuloma [RCV000662269] | likely pathogenic|uncertain significance | 11 | 533911 | 533911 | Human | 1 | name |
| 13703161 | CV539146 | single nucleotide variant | NM_005343.4(HRAS):c.100C>T (p.Pro34Ser) | Vascular Tumors Including Pyogenic Granuloma [RCV000662272] | uncertain significance | 11 | 534223 | 534223 | Human | | name |
| 13797295 | CV552663 | single nucleotide variant | NM_005343.4(HRAS):c.137T>C (p.Ile46Thr) | Costello syndrome [RCV001861890]|not provided [RCV000681108] | likely pathogenic|uncertain significance | 11 | 533919 | 533919 | Human | 1 | name |
| 13813842 | CV570706 | single nucleotide variant | NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) | Costello syndrome [RCV000704627] | uncertain significance | 11 | 533818 | 533818 | Human | 1 | name |
| 14393681 | CV609793 | single nucleotide variant | NM_005343.4(HRAS):c.214A>C (p.Met72Leu) | Costello syndrome [RCV005056501]|not provided [RCV000756250] | uncertain significance | 11 | 533842 | 533842 | Human | 1 | name |
| 14743746 | CV640155 | single nucleotide variant | NM_005343.4(HRAS):c.275A>C (p.Asp92Ala) | Costello syndrome [RCV000823640] | uncertain significance | 11 | 533781 | 533781 | Human | 1 | name |
| 14732220 | CV640156 | single nucleotide variant | NM_005343.4(HRAS):c.178G>A (p.Gly60Ser) | Costello syndrome [RCV000818197] | likely pathogenic|uncertain significance | 11 | 533878 | 533878 | Human | 1 | name |
| 26917036 | CV838563 | single nucleotide variant | NM_005343.4(HRAS):c.282C>G (p.His94Gln) | Cardiovascular phenotype [RCV004031788]|Costello syndrome [RCV001056731] | uncertain significance | 11 | 533774 | 533774 | Human | 1 | name |
| 26895536 | CV838564 | single nucleotide variant | NM_005343.4(HRAS):c.280C>T (p.His94Tyr) | Costello syndrome [RCV001069666] | uncertain significance | 11 | 533776 | 533776 | Human | 1 | name |
| 26886955 | CV838565 | single nucleotide variant | NM_005343.4(HRAS):c.133G>A (p.Val45Ile) | Costello syndrome [RCV001044559] | uncertain significance | 11 | 533923 | 533923 | Human | 1 | name |
| 38493267 | CV926274 | single nucleotide variant | NM_005343.4(HRAS):c.260C>A (p.Thr87Asn) | Costello syndrome [RCV001224158] | uncertain significance | 11 | 533796 | 533796 | Human | 1 | name |
| 38488591 | CV935598 | single nucleotide variant | NM_005343.4(HRAS):c.274G>A (p.Asp92Asn) | Costello syndrome [RCV001209828] | uncertain significance | 11 | 533782 | 533782 | Human | 1 | name |
| 38475491 | CV935599 | single nucleotide variant | NM_005343.4(HRAS):c.263A>G (p.Lys88Arg) | Costello syndrome [RCV001204299] | uncertain significance | 11 | 533793 | 533793 | Human | 1 | name |
| 38480299 | CV935600 | single nucleotide variant | NM_005343.4(HRAS):c.245T>G (p.Phe82Cys) | Costello syndrome [RCV001206337] | uncertain significance | 11 | 533811 | 533811 | Human | 1 | name |
| 38470724 | CV947502 | single nucleotide variant | NM_005343.4(HRAS):c.297G>T (p.Gln99His) | Costello syndrome [RCV001231060] | uncertain significance | 11 | 533606 | 533606 | Human | 1 | name |
| 38473071 | CV947503 | duplication | NM_005343.4(HRAS):c.270dup (p.Glu91Ter) | Costello syndrome [RCV001231755] | uncertain significance | 11 | 533785 | 533786 | Human | 1 | name |
| 38493339 | CV956532 | single nucleotide variant | NM_005343.4(HRAS):c.295C>G (p.Gln99Glu) | Costello syndrome [RCV001240627] | uncertain significance | 11 | 533608 | 533608 | Human | 1 | name |
| 126754241 | CV994569 | single nucleotide variant | NM_005343.4(HRAS):c.269T>C (p.Phe90Ser) | Costello syndrome [RCV001307584]|not provided [RCV004779049] | uncertain significance | 11 | 533787 | 533787 | Human | 1 | name |
| 126747196 | CV994570 | single nucleotide variant | NM_005343.4(HRAS):c.245T>C (p.Phe82Ser) | Costello syndrome [RCV001306208] | uncertain significance | 11 | 533811 | 533811 | Human | 1 | name |
| 126751537 | CV994571 | single nucleotide variant | NM_005343.4(HRAS):c.138T>G (p.Ile46Met) | Costello syndrome [RCV001297540] | uncertain significance | 11 | 533918 | 533918 | Human | 1 | name |
| 126739400 | CV1009736 | single nucleotide variant | NM_005343.4(HRAS):c.517C>T (p.Pro173Ser) | Costello syndrome [RCV001325045]|not provided [RCV002466661] | uncertain significance | 11 | 532689 | 532689 | Human | 1 | name |
| 126761276 | CV1009737 | single nucleotide variant | NM_005343.4(HRAS):c.497A>G (p.His166Arg) | Costello syndrome [RCV001318591]|HRAS-related disorder [RCV003399099] | uncertain significance | 11 | 532709 | 532709 | Human | 1 | name , trait , alternate_id |
| 126764072 | CV1009738 | single nucleotide variant | NM_005343.4(HRAS):c.479T>C (p.Val160Ala) | Costello syndrome [RCV001319495] | uncertain significance | 11 | 532727 | 532727 | Human | 1 | name |
| 126767359 | CV1009739 | single nucleotide variant | NM_005343.4(HRAS):c.427G>A (p.Glu143Lys) | Costello syndrome [RCV001320813] | uncertain significance | 11 | 533476 | 533476 | Human | 1 | name |
| 126769305 | CV1009741 | single nucleotide variant | NM_005343.4(HRAS):c.391C>G (p.Gln131Glu) | Costello syndrome [RCV001321875] | uncertain significance | 11 | 533512 | 533512 | Human | 1 | name |
| 126737044 | CV1009742 | single nucleotide variant | NM_005343.4(HRAS):c.358C>G (p.Leu120Val) | Costello syndrome [RCV001324745] | uncertain significance | 11 | 533545 | 533545 | Human | 1 | name |
| 126769005 | CV1009743 | single nucleotide variant | NM_005343.4(HRAS):c.307G>A (p.Val103Met) | Costello syndrome [RCV001321698] | uncertain significance | 11 | 533596 | 533596 | Human | 1 | name |
| 126740263 | CV1017461 | single nucleotide variant | NM_005343.4(HRAS):c.386A>G (p.Gln129Arg) | Costello syndrome [RCV001329395]|HRAS-related disorder [RCV005225372]|not specified [RCV005419086] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 533517 | 533517 | Human | 1 | name , trait , alternate_id |
| 126765018 | CV1030297 | single nucleotide variant | NM_005343.4(HRAS):c.545T>C (p.Met182Thr) | Costello syndrome [RCV001341872] | uncertain significance | 11 | 532661 | 532661 | Human | 1 | name |
| 126773539 | CV1030298 | single nucleotide variant | NM_005343.4(HRAS):c.542G>A (p.Cys181Tyr) | Costello syndrome [RCV001346242] | uncertain significance | 11 | 532664 | 532664 | Human | 1 | name |
| 126753485 | CV1030299 | single nucleotide variant | NM_005343.4(HRAS):c.506G>T (p.Arg169Leu) | Costello syndrome [RCV001338600] | uncertain significance | 11 | 532700 | 532700 | Human | 1 | name |
| 126748226 | CV1030300 | single nucleotide variant | NM_005343.4(HRAS):c.484G>A (p.Glu162Lys) | Costello syndrome [RCV001337613]|not provided [RCV001550317] | uncertain significance | 11 | 532722 | 532722 | Human | 1 | name |
| 126748242 | CV1030301 | single nucleotide variant | NM_005343.4(HRAS):c.424A>G (p.Ile142Val) | Costello syndrome [RCV001351824] | uncertain significance | 11 | 533479 | 533479 | Human | 1 | name |
| 126737710 | CV1030302 | single nucleotide variant | NM_005343.4(HRAS):c.379T>C (p.Ser127Pro) | Cardiovascular phenotype [RCV004036624]|Costello syndrome [RCV001350388] | uncertain significance | 11 | 533524 | 533524 | Human | 1 | name |
| 126746909 | CV1030303 | single nucleotide variant | NM_005343.4(HRAS):c.370A>G (p.Thr124Ala) | Cardiovascular phenotype [RCV005340829]|Costello syndrome [RCV001351593]|not provided [RCV002224077] | uncertain significance | 11 | 533533 | 533533 | Human | 1 | name |
| 126753885 | CV1030304 | single nucleotide variant | NM_005343.4(HRAS):c.361G>A (p.Ala121Thr) | Costello syndrome [RCV001338691]|Ovarian cancer [RCV003153999] | benign|uncertain significance | 11 | 533542 | 533542 | Human | 3 | name |
| 126916173 | CV1047282 | single nucleotide variant | NM_005343.4(HRAS):c.536C>T (p.Pro179Leu) | Costello syndrome [RCV001360423]|not provided [RCV002269365] | uncertain significance | 11 | 532670 | 532670 | Human | 1 | name |
| 126921912 | CV1047283 | single nucleotide variant | NM_005343.4(HRAS):c.515A>G (p.Asn172Ser) | Costello syndrome [RCV001364047] | uncertain significance | 11 | 532691 | 532691 | Human | 1 | name |
| 126919337 | CV1047284 | single nucleotide variant | NM_005343.4(HRAS):c.463G>A (p.Ala155Thr) | Costello syndrome [RCV001373169] | uncertain significance | 11 | 532743 | 532743 | Human | 1 | name |
| 126918930 | CV1047285 | single nucleotide variant | NM_005343.4(HRAS):c.329C>T (p.Pro110Leu) | Costello syndrome [RCV001372946] | uncertain significance | 11 | 533574 | 533574 | Human | 1 | name |
| 150429000 | CV1187757 | single nucleotide variant | NM_005343.4(HRAS):c.468C>G (p.Phe156Leu) | not provided [RCV001563014] | pathogenic | 11 | 532738 | 532738 | Human | | name |
| 150543973 | CV1310048 | single nucleotide variant | NM_176795.5(HRAS):c.481G>A (p.Gly161Arg) | Costello syndrome [RCV005095098]|not provided [RCV003238053] | likely benign|uncertain significance | 11 | 533328 | 533328 | Human | 1 | name |
| 150533930 | CV1311376 | single nucleotide variant | NM_005343.4(HRAS):c.454G>A (p.Val152Met) | Costello syndrome [RCV002541093]|not provided [RCV001777111] | uncertain significance | 11 | 532752 | 532752 | Human | 1 | name |
| 151234020 | CV1318065 | single nucleotide variant | NM_005343.4(HRAS):c.466T>C (p.Phe156Leu) | Costello syndrome [RCV001789705] | pathogenic | 11 | 532740 | 532740 | Human | 1 | name |
| 151352137 | CV1325101 | single nucleotide variant | NM_005343.4(HRAS):c.521C>A (p.Pro174His) | Noonan syndrome and Noonan-related syndrome [RCV001813656] | uncertain significance | 11 | 532685 | 532685 | Human | | name |
| 151811769 | CV1346809 | single nucleotide variant | NM_005343.4(HRAS):c.362C>A (p.Ala121Asp) | Costello syndrome [RCV002048924] | uncertain significance | 11 | 533541 | 533541 | Human | 1 | name |
| 151796281 | CV1356002 | single nucleotide variant | NM_005343.4(HRAS):c.368G>A (p.Arg123His) | Costello syndrome [RCV002027674] | uncertain significance | 11 | 533535 | 533535 | Human | 1 | name |
| 151745714 | CV1360987 | single nucleotide variant | NM_005343.4(HRAS):c.425T>C (p.Ile142Thr) | Costello syndrome [RCV001871491] | uncertain significance | 11 | 533478 | 533478 | Human | 1 | name |
| 151836745 | CV1371354 | single nucleotide variant | NM_005343.4(HRAS):c.365C>T (p.Ala122Val) | Costello syndrome [RCV001921064] | uncertain significance | 11 | 533538 | 533538 | Human | 1 | name |
| 151805445 | CV1371977 | single nucleotide variant | NM_005343.4(HRAS):c.367C>G (p.Arg123Gly) | Costello syndrome [RCV001953316] | uncertain significance | 11 | 533536 | 533536 | Human | 1 | name |
| 8687785 | CV138253 | single nucleotide variant | NM_005343.4(HRAS):c.473C>T (p.Thr158Met) | Costello syndrome [RCV000813562]|not provided [RCV004696851]|not specified [RCV000121201] | uncertain significance|not provided | 11 | 532733 | 532733 | Human | 1 | name |
| 151830409 | CV1391672 | single nucleotide variant | NM_005343.4(HRAS):c.476T>C (p.Leu159Ser) | Costello syndrome [RCV002050671] | uncertain significance | 11 | 532730 | 532730 | Human | 1 | name |
| 151821173 | CV1416320 | single nucleotide variant | NM_005343.4(HRAS):c.535C>T (p.Pro179Ser) | Cardiovascular phenotype [RCV002344051]|Costello syndrome [RCV001919589]|not provided [RCV003159220] | uncertain significance | 11 | 532671 | 532671 | Human | 1 | name |
| 151772243 | CV1417959 | single nucleotide variant | NM_005343.4(HRAS):c.551G>A (p.Cys184Tyr) | Costello syndrome [RCV001874567] | uncertain significance | 11 | 532655 | 532655 | Human | 1 | name |
| 151856537 | CV1422009 | single nucleotide variant | NM_005343.4(HRAS):c.496C>T (p.His166Tyr) | Costello syndrome [RCV001938019] | uncertain significance | 11 | 532710 | 532710 | Human | 1 | name |
| 151782158 | CV1422238 | single nucleotide variant | NM_005343.4(HRAS):c.364G>A (p.Ala122Thr) | Costello syndrome [RCV001972181] | uncertain significance | 11 | 533539 | 533539 | Human | 1 | name |
| 151774387 | CV1427942 | single nucleotide variant | NM_005343.4(HRAS):c.400G>A (p.Ala134Thr) | Costello syndrome [RCV001915290] | uncertain significance | 11 | 533503 | 533503 | Human | 1 | name |
| 151723704 | CV1436896 | single nucleotide variant | NM_005343.4(HRAS):c.429G>C (p.Glu143Asp) | Costello syndrome [RCV002004007] | uncertain significance | 11 | 533474 | 533474 | Human | 1 | name |
| 151724649 | CV1451974 | single nucleotide variant | NM_005343.4(HRAS):c.307G>C (p.Val103Leu) | Costello syndrome [RCV002040529] | uncertain significance | 11 | 533596 | 533596 | Human | 1 | name |
| 151872713 | CV1467036 | single nucleotide variant | NM_005343.4(HRAS):c.325G>A (p.Val109Met) | Costello syndrome [RCV001925424] | uncertain significance | 11 | 533578 | 533578 | Human | 1 | name |
| 151797054 | CV1467589 | single nucleotide variant | NM_005343.4(HRAS):c.415A>T (p.Ile139Phe) | Costello syndrome [RCV001952572] | uncertain significance | 11 | 533488 | 533488 | Human | 1 | name |
| 151753327 | CV1471072 | single nucleotide variant | NM_005343.4(HRAS):c.313G>A (p.Asp105Asn) | Costello syndrome [RCV001948371] | uncertain significance | 11 | 533590 | 533590 | Human | 1 | name |
| 151889640 | CV1479752 | single nucleotide variant | NM_005343.4(HRAS):c.530G>A (p.Ser177Asn) | Costello syndrome [RCV001888222] | uncertain significance | 11 | 532676 | 532676 | Human | 1 | name |
| 151809113 | CV1483613 | single nucleotide variant | NM_005343.4(HRAS):c.551G>C (p.Cys184Ser) | Costello syndrome [RCV001918427] | uncertain significance | 11 | 532655 | 532655 | Human | 1 | name |
| 151854252 | CV1485414 | single nucleotide variant | NM_005343.4(HRAS):c.383G>T (p.Arg128Leu) | Costello syndrome [RCV002033573] | uncertain significance | 11 | 533520 | 533520 | Human | 1 | name |
| 151751647 | CV1508424 | single nucleotide variant | NM_005343.4(HRAS):c.331A>G (p.Met111Val) | Costello syndrome [RCV001986343] | uncertain significance | 11 | 533572 | 533572 | Human | 1 | name |
| 151758719 | CV1510825 | single nucleotide variant | NM_005343.4(HRAS):c.376G>C (p.Glu126Gln) | Costello syndrome [RCV001948892] | uncertain significance | 11 | 533527 | 533527 | Human | 1 | name |
| 151733618 | CV1512450 | single nucleotide variant | NM_005343.4(HRAS):c.413G>T (p.Gly138Val) | Costello syndrome [RCV002021551] | uncertain significance | 11 | 533490 | 533490 | Human | 1 | name |
| 153002332 | CV1685330 | single nucleotide variant | NM_005343.4(HRAS):c.481C>G (p.Arg161Gly) | Hereditary cancer-predisposing syndrome [RCV002258705] | uncertain significance | 11 | 532725 | 532725 | Human | 1 | name |
| 9689141 | CV174801 | single nucleotide variant | NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) | Cardiovascular phenotype [RCV002345496]|Costello syndrome [RCV000803493]|Large congenital melanocytic nevus [RCV002505170]|not specified [RCV000154576] | uncertain significance | 11 | 532701 | 532701 | Human | 14 | name |
| 9689080 | CV175214 | single nucleotide variant | NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) | Costello syndrome [RCV000700279]|not specified [RCV000154499] | likely benign|uncertain significance | 11 | 533485 | 533485 | Human | 1 | name |
| 155705445 | CV1774975 | single nucleotide variant | NM_005343.4(HRAS):c.530G>C (p.Ser177Thr) | Costello syndrome [RCV002300209] | uncertain significance | 11 | 532676 | 532676 | Human | 1 | name |
| 155749055 | CV1777213 | single nucleotide variant | NM_005343.4(HRAS):c.559G>A (p.Val187Met) | Costello syndrome [RCV002304250] | uncertain significance | 11 | 532647 | 532647 | Human | 1 | name |
| 155742325 | CV1777221 | single nucleotide variant | NM_005343.4(HRAS):c.484G>C (p.Glu162Gln) | Costello syndrome [RCV002302904] | uncertain significance | 11 | 532722 | 532722 | Human | 1 | name |
| 155706794 | CV1778380 | single nucleotide variant | NM_005343.4(HRAS):c.325G>T (p.Val109Leu) | Costello syndrome [RCV002295996] | uncertain significance | 11 | 533578 | 533578 | Human | 1 | name |
| 9832740 | CV179411 | single nucleotide variant | NM_005343.4(HRAS):c.544A>G (p.Met182Val) | Costello syndrome [RCV001219043]|not provided [RCV000157924] | uncertain significance | 11 | 532662 | 532662 | Human | 1 | name |
| 9832743 | CV179412 | single nucleotide variant | NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) | Costello syndrome [RCV000463046]|HRAS-related disorder [RCV003390855]|Hereditary cancer-predisposing syndrome [RCV002258816]|Large congenital melanocytic nevus [RCV002492617]|not provided [RCV000505776] | uncertain significance | 11 | 532700 | 532700 | Human | 15 | name , trait , alternate_id |
| 9832739 | CV179413 | single nucleotide variant | NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) | Costello syndrome [RCV000533738]|Hereditary cancer-predisposing syndrome [RCV002257459] | likely pathogenic|uncertain significance | 11 | 533535 | 533535 | Human | 2 | name |
| 9832738 | CV179414 | single nucleotide variant | NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) | Costello syndrome [RCV000471505]|Large congenital melanocytic nevus [RCV005049434]|not provided [RCV000157922]|not specified [RCV000606057] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 11 | 533536 | 533536 | Human | 7 | name |
| 9832742 | CV179415 | single nucleotide variant | NM_005343.4(HRAS):c.362C>T (p.Ala121Val) | Costello syndrome [RCV001850200]|not provided [RCV000157927] | uncertain significance | 11 | 533541 | 533541 | Human | 1 | name |
| 9832737 | CV179416 | single nucleotide variant | NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) | Cardiovascular phenotype [RCV002321658]|Costello syndrome [RCV000816581]|not provided [RCV000157921] | uncertain significance | 11 | 533586 | 533586 | Human | 1 | name |
| 155669278 | CV1856277 | single nucleotide variant | NM_005343.4(HRAS):c.302A>T (p.Lys101Ile) | Cardiovascular phenotype [RCV002435979] | uncertain significance | 11 | 533601 | 533601 | Human | | name |
| 156008542 | CV1870627 | single nucleotide variant | NM_005343.4(HRAS):c.473C>G (p.Thr158Arg) | Costello syndrome [RCV003076952] | uncertain significance | 11 | 532733 | 532733 | Human | 1 | name |
| 156197205 | CV1889813 | single nucleotide variant | NM_005343.4(HRAS):c.451G>C (p.Gly151Arg) | Costello syndrome [RCV003084081] | uncertain significance | 11 | 532755 | 532755 | Human | 1 | name |
| 156041509 | CV1891072 | single nucleotide variant | NM_005343.4(HRAS):c.403C>T (p.Arg135Ter) | Costello syndrome [RCV003078535] | uncertain significance | 11 | 533500 | 533500 | Human | 1 | name |
| 156436132 | CV1937351 | single nucleotide variant | NM_005343.4(HRAS):c.424A>T (p.Ile142Phe) | Costello syndrome [RCV003105215] | uncertain significance | 11 | 533479 | 533479 | Human | 1 | name |
| 156441484 | CV1944141 | single nucleotide variant | NM_005343.4(HRAS):c.489C>G (p.Ile163Met) | Costello syndrome [RCV003111810] | uncertain significance | 11 | 532717 | 532717 | Human | 1 | name |
| 156445095 | CV1945090 | single nucleotide variant | NM_005343.4(HRAS):c.376G>T (p.Glu126Ter) | Costello syndrome [RCV003116030] | uncertain significance | 11 | 533527 | 533527 | Human | 1 | name |
| 156415069 | CV1965025 | single nucleotide variant | NM_005343.4(HRAS):c.323A>G (p.Asp108Gly) | Costello syndrome [RCV002588959] | uncertain significance | 11 | 533580 | 533580 | Human | 1 | name |
| 156272397 | CV2004213 | single nucleotide variant | NM_005343.4(HRAS):c.479T>G (p.Val160Gly) | Costello syndrome [RCV002646576] | uncertain significance | 11 | 532727 | 532727 | Human | 1 | name |
| 156125026 | CV2072697 | single nucleotide variant | NM_005343.4(HRAS):c.518C>G (p.Pro173Arg) | Costello syndrome [RCV002825450] | likely benign | 11 | 532688 | 532688 | Human | 1 | name |
| 156294983 | CV2073432 | single nucleotide variant | NM_005343.4(HRAS):c.406A>G (p.Ser136Gly) | Costello syndrome [RCV002833358] | uncertain significance | 11 | 533497 | 533497 | Human | 1 | name |
| 156038742 | CV2097878 | single nucleotide variant | NM_005343.4(HRAS):c.446G>A (p.Arg149Gln) | Costello syndrome [RCV002885723]|HRAS-related disorder [RCV003395528] | uncertain significance | 11 | 533457 | 533457 | Human | 1 | name , trait , alternate_id |
| 156350316 | CV2147053 | single nucleotide variant | NM_005343.4(HRAS):c.486G>C (p.Glu162Asp) | Costello syndrome [RCV003030820] | uncertain significance | 11 | 532720 | 532720 | Human | 1 | name |
| 155996255 | CV2156557 | single nucleotide variant | NM_005343.4(HRAS):c.451G>A (p.Gly151Arg) | Costello syndrome [RCV002996801] | uncertain significance | 11 | 532755 | 532755 | Human | 1 | name |
| 156187878 | CV2178783 | single nucleotide variant | NM_005343.4(HRAS):c.477G>T (p.Leu159Phe) | Costello syndrome [RCV003057735] | uncertain significance | 11 | 532729 | 532729 | Human | 1 | name |
| 156297813 | CV2180457 | single nucleotide variant | NM_005343.4(HRAS):c.319G>A (p.Asp107Asn) | Costello syndrome [RCV003027950] | uncertain significance | 11 | 533584 | 533584 | Human | 1 | name |
| 156096507 | CV2183587 | single nucleotide variant | NM_005343.4(HRAS):c.313G>C (p.Asp105His) | Costello syndrome [RCV003054560] | uncertain significance | 11 | 533590 | 533590 | Human | 1 | name |
| 11349040 | CV241153 | single nucleotide variant | NM_005343.4(HRAS):c.546G>A (p.Met182Ile) | Costello syndrome [RCV000229010]|Large congenital melanocytic nevus [RCV005049496]|not specified [RCV003993902] | likely benign|uncertain significance | 11 | 532660 | 532660 | Human | 7 | name |
| 11346394 | CV241154 | single nucleotide variant | NM_005343.4(HRAS):c.498C>A (p.His166Gln) | Costello syndrome [RCV000228331] | likely benign|uncertain significance | 11 | 532708 | 532708 | Human | 1 | name |
| 8599072 | CV27644 | single nucleotide variant | NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) | Costello syndrome [RCV000013439]|RASopathy [RCV005252033]|not provided [RCV000353386] | pathogenic | 11 | 533553 | 533553 | Human | 2 | name |
| 8563227 | CV27646 | single nucleotide variant | NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) | Costello syndrome [RCV000013441] | pathogenic|likely pathogenic | 11 | 533467 | 533467 | Human | 1 | name |
| 8563230 | CV27650 | single nucleotide variant | NM_005343.4(HRAS):c.437C>T (p.Ala146Val) | Costello syndrome [RCV000013445] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters | 11 | 533466 | 533466 | Human | 1 | name |
| 405015639 | CV2855339 | single nucleotide variant | NM_005343.4(HRAS):c.538G>C (p.Gly180Arg) | Costello syndrome [RCV003515374] | uncertain significance | 11 | 532668 | 532668 | Human | 1 | name |
| 405016735 | CV2857004 | single nucleotide variant | NM_005343.4(HRAS):c.407G>C (p.Ser136Thr) | Costello syndrome [RCV003515519] | uncertain significance | 11 | 533496 | 533496 | Human | 1 | name |
| 405008048 | CV2857078 | single nucleotide variant | NM_005343.4(HRAS):c.511C>G (p.Leu171Val) | Costello syndrome [RCV003514672] | uncertain significance | 11 | 532695 | 532695 | Human | 1 | name |
| 405018047 | CV2878215 | single nucleotide variant | NM_005343.4(HRAS):c.532G>A (p.Gly178Ser) | Costello syndrome [RCV003515621] | uncertain significance | 11 | 532674 | 532674 | Human | 1 | name |
| 402496660 | CV2975403 | single nucleotide variant | NM_005343.4(HRAS):c.457G>T (p.Glu153Ter) | Costello syndrome [RCV003627822] | uncertain significance | 11 | 532749 | 532749 | Human | 1 | name |
| 402498350 | CV2980814 | single nucleotide variant | NM_005343.4(HRAS):c.460G>T (p.Asp154Tyr) | Costello syndrome [RCV003627913] | likely benign | 11 | 532746 | 532746 | Human | 1 | name |
| 402497975 | CV2981445 | single nucleotide variant | NM_005343.4(HRAS):c.516C>A (p.Asn172Lys) | Costello syndrome [RCV003627985] | uncertain significance | 11 | 532690 | 532690 | Human | 1 | name |
| 402498221 | CV2988428 | single nucleotide variant | NM_005343.4(HRAS):c.493C>A (p.Gln165Lys) | Costello syndrome [RCV003628010] | uncertain significance | 11 | 532713 | 532713 | Human | 1 | name |
| 402499217 | CV2989560 | single nucleotide variant | NM_005343.4(HRAS):c.305G>A (p.Arg102Gln) | Costello syndrome [RCV003628118] | uncertain significance | 11 | 533598 | 533598 | Human | 1 | name |
| 402503591 | CV3013374 | single nucleotide variant | NM_005343.4(HRAS):c.395A>G (p.Asp132Gly) | Costello syndrome [RCV003628575] | uncertain significance | 11 | 533508 | 533508 | Human | 1 | name |
| 402490971 | CV3045797 | single nucleotide variant | NM_005343.4(HRAS):c.443C>G (p.Thr148Ser) | Costello syndrome [RCV003627211] | uncertain significance | 11 | 533460 | 533460 | Human | 1 | name |
| 402490650 | CV3054995 | single nucleotide variant | NM_005343.4(HRAS):c.374T>G (p.Val125Gly) | Costello syndrome [RCV003627154] | uncertain significance | 11 | 533529 | 533529 | Human | 1 | name |
| 402491304 | CV3066855 | single nucleotide variant | NM_005343.4(HRAS):c.412G>C (p.Gly138Arg) | Costello syndrome [RCV003627248] | uncertain significance | 11 | 533491 | 533491 | Human | 1 | name |
| 405181744 | CV3119991 | single nucleotide variant | NM_005343.4(HRAS):c.347A>G (p.Asn116Ser) | Costello syndrome [RCV003820084] | uncertain significance | 11 | 533556 | 533556 | Human | 1 | name |
| 405143425 | CV3126074 | single nucleotide variant | NM_005343.4(HRAS):c.331A>T (p.Met111Leu) | Cardiovascular phenotype [RCV004366729]|Costello syndrome [RCV003816990] | uncertain significance | 11 | 533572 | 533572 | Human | 1 | name |
| 405160217 | CV3152949 | single nucleotide variant | NM_005343.4(HRAS):c.343G>A (p.Gly115Arg) | Costello syndrome [RCV003840684] | uncertain significance | 11 | 533560 | 533560 | Human | 1 | name |
| 405253520 | CV3174498 | single nucleotide variant | NM_005343.4(HRAS):c.473C>A (p.Thr158Lys) | Costello syndrome [RCV003871128] | uncertain significance | 11 | 532733 | 532733 | Human | 1 | name |
| 405262238 | CV3194421 | single nucleotide variant | NM_005343.4(HRAS):c.434C>T (p.Ser145Leu) | HRAS-related disorder [RCV003896450] | uncertain significance | 11 | 533469 | 533469 | Human | | name , trait , alternate_id |
| 405289979 | CV3214047 | single nucleotide variant | NM_176795.5(HRAS):c.457C>T (p.Arg153Cys) | HRAS-related disorder [RCV003926889] | likely benign | 11 | 533352 | 533352 | Human | | name , trait , alternate_id |
| 407425171 | CV3411142 | single nucleotide variant | NM_005343.4(HRAS):c.389C>T (p.Ala130Val) | not provided [RCV004588832] | uncertain significance | 11 | 533514 | 533514 | Human | | name |
| 407528315 | CV3433919 | single nucleotide variant | NM_005343.4(HRAS):c.478G>C (p.Val160Leu) | Cardiovascular phenotype [RCV004633108] | uncertain significance | 11 | 532728 | 532728 | Human | | name |
| 596929787 | CV3531152 | single nucleotide variant | NM_005343.4(HRAS):c.403C>G (p.Arg135Gly) | not provided [RCV004779726] | uncertain significance | 11 | 533500 | 533500 | Human | | name |
| 12741261 | CV360035 | single nucleotide variant | NM_005343.4(HRAS):c.304C>T (p.Arg102Trp) | Costello syndrome [RCV001369972]|not specified [RCV000414564] | uncertain significance | 11 | 533599 | 533599 | Human | 1 | name |
| 12834386 | CV363321 | single nucleotide variant | NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) | Acute myeloid leukemia [RCV000417704]|Gastric adenocarcinoma [RCV000439704]|Lung adenocarcinoma [RCV000439018]|Multiple myeloma [RCV000429488]|Neoplasm of the large intestine [RCV000427905]|Neoplasm of uterine cervix [RCV000418346] | likely pathogenic | 11 | 533467 | 533467 | Human | 5 | name |
| 597725414 | CV3729987 | single nucleotide variant | NM_005343.4(HRAS):c.550T>G (p.Cys184Gly) | Large congenital melanocytic nevus [RCV005050243] | uncertain significance | 11 | 532656 | 532656 | Human | 6 | name |
| 597836051 | CV3764477 | single nucleotide variant | NM_005343.4(HRAS):c.500A>G (p.Lys167Arg) | Costello syndrome [RCV005107277] | uncertain significance | 11 | 532706 | 532706 | Human | 1 | name |
| 597836055 | CV3764478 | single nucleotide variant | NM_005343.4(HRAS):c.446G>T (p.Arg149Leu) | Costello syndrome [RCV005107278] | uncertain significance | 11 | 533457 | 533457 | Human | 1 | name |
| 597836059 | CV3764480 | single nucleotide variant | NM_005343.4(HRAS):c.377A>G (p.Glu126Gly) | Costello syndrome [RCV005107280] | uncertain significance | 11 | 533526 | 533526 | Human | 1 | name |
| 597836162 | CV3764617 | single nucleotide variant | NM_005343.4(HRAS):c.509A>G (p.Lys170Arg) | Costello syndrome [RCV005107416] | uncertain significance | 11 | 532697 | 532697 | Human | 1 | name |
| 597878178 | CV3803924 | single nucleotide variant | NM_005343.4(HRAS):c.340G>A (p.Val114Met) | Costello syndrome [RCV005153469] | uncertain significance | 11 | 533563 | 533563 | Human | 1 | name |
| 12890815 | CV398678 | single nucleotide variant | NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) | Costello syndrome [RCV000475366]|Large congenital melanocytic nevus [RCV005049560]|not provided [RCV002464203] | uncertain significance | 11 | 533512 | 533512 | Human | 7 | name |
| 12880860 | CV398759 | single nucleotide variant | NM_005343.4(HRAS):c.398T>A (p.Leu133His) | Cardiovascular phenotype [RCV002374788]|Costello syndrome [RCV000456787]|Linear nevus sebaceous syndrome [RCV001535653]|not provided [RCV000681068]|not specified [RCV003151066] | uncertain significance|not provided | 11 | 533505 | 533505 | Human | 4 | name |
| 12892034 | CV398760 | single nucleotide variant | NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) | Costello syndrome [RCV000469881] | uncertain significance | 11 | 533586 | 533586 | Human | 1 | name |
| 617152957 | CV4018513 | single nucleotide variant | NM_005343.4(HRAS):c.326T>C (p.Val109Ala) | not specified [RCV005418774] | uncertain significance | 11 | 533577 | 533577 | Human | | name |
| 12898552 | CV408384 | single nucleotide variant | NM_005343.4(HRAS):c.448C>T (p.Gln150Ter) | not provided [RCV000478173] | uncertain significance | 11 | 533455 | 533455 | Human | | name |
| 12913615 | CV421862 | single nucleotide variant | NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) | Costello syndrome [RCV000705122]|not provided [RCV000494039] | likely benign|uncertain significance | 11 | 533601 | 533601 | Human | 1 | name |
| 13475520 | CV461199 | single nucleotide variant | NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) | Costello syndrome [RCV000526328]|Intellectual disability [RCV001260727] | uncertain significance | 11 | 532688 | 532688 | Human | 3 | name |
| 13494370 | CV461389 | single nucleotide variant | NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) | Costello syndrome [RCV000558860] | uncertain significance | 11 | 533490 | 533490 | Human | 1 | name |
| 13474758 | CV461709 | single nucleotide variant | NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) | Costello syndrome [RCV000525978] | uncertain significance | 11 | 532754 | 532754 | Human | 1 | name |
| 9832732 | CV48914 | single nucleotide variant | NM_176795.5(HRAS):c.500C>T (p.Pro167Leu) | not specified [RCV000157908] | likely benign | 11 | 533309 | 533309 | Human | | name |
| 12842476 | CV48915 | single nucleotide variant | NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) | Costello syndrome [RCV000637302]|not provided [RCV000434487] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 532746 | 532746 | Human | 1 | name |
| 9832733 | CV48917 | single nucleotide variant | NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) | Costello syndrome [RCV000551172]|Large congenital melanocytic nevus [RCV002477044]|not provided [RCV000157909] | likely benign|uncertain significance | 11 | 532698 | 532698 | Human | 7 | name |
| 8608146 | CV48918 | single nucleotide variant | NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) | Costello syndrome [RCV000234040]|HRAS-related disorder [RCV003944865]|Hereditary cancer-predisposing syndrome [RCV002258783]|Large congenital melanocytic nevus [RCV000755642]|RASopathy [RCV000520658]|not specified [RCV000038467] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 532686 | 532686 | Human | 16 | name , trait , alternate_id |
| 13516382 | CV494969 | single nucleotide variant | NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) | Costello syndrome [RCV000700035]|not provided [RCV000681102]|not specified [RCV000595459] | uncertain significance | 11 | 533458 | 533458 | Human | 1 | name |
| 13542050 | CV497621 | single nucleotide variant | NM_005343.4(HRAS):c.482G>A (p.Arg161His) | Costello syndrome [RCV001202259]|not specified [RCV000616994] | uncertain significance | 11 | 532724 | 532724 | Human | 1 | name |
| 13605868 | CV526484 | single nucleotide variant | NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) | Costello syndrome [RCV000637305] | uncertain significance | 11 | 533520 | 533520 | Human | 1 | name |
| 13605866 | CV526759 | single nucleotide variant | NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) | Cardiovascular phenotype [RCV002358789]|Costello syndrome [RCV000637303] | likely benign|uncertain significance | 11 | 533506 | 533506 | Human | 1 | name |
| 8608142 | CV54470 | single nucleotide variant | NM_005343.4(HRAS):c.401C>T (p.Ala134Val) | Costello syndrome [RCV000230783]|not specified [RCV000038463] | uncertain significance | 11 | 533502 | 533502 | Human | 1 | name |
| 8608143 | CV54471 | single nucleotide variant | NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) | Cardiovascular phenotype [RCV004018874]|Costello syndrome [RCV000548489]|HRAS-related disorder [RCV003421952]|Hereditary cancer-predisposing syndrome [RCV002257383]|Large congenital melanocytic nevus [RCV005049407]|RASopathy [RCV001030071]|not provided [RCV00068 1055]|not specified [RCV000038464] | likely benign|uncertain significance | 11 | 533491 | 533491 | Human | 16 | name , trait , alternate_id |
| 13811430 | CV564738 | single nucleotide variant | NM_005343.4(HRAS):c.490C>T (p.Arg164Trp) | Costello syndrome [RCV000703060]|Hereditary cancer-predisposing syndrome [RCV002259010]|not specified [RCV005240496] | uncertain significance | 11 | 532716 | 532716 | Human | 2 | name |
| 13808523 | CV564743 | single nucleotide variant | NM_005343.4(HRAS):c.394G>A (p.Asp132Asn) | Costello syndrome [RCV000687312]|not provided [RCV000788501]|not specified [RCV004782512] | uncertain significance | 11 | 533509 | 533509 | Human | 1 | name |
| 13818263 | CV564745 | single nucleotide variant | NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) | Costello syndrome [RCV000707594] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 533515 | 533515 | Human | 1 | name |
| 13812286 | CV564747 | single nucleotide variant | NM_005343.4(HRAS):c.332T>C (p.Met111Thr) | Costello syndrome [RCV000689351] | uncertain significance | 11 | 533571 | 533571 | Human | 1 | name |
| 13813479 | CV567334 | single nucleotide variant | NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) | Costello syndrome [RCV000704391] | uncertain significance | 11 | 532719 | 532719 | Human | 1 | name |
| 13808420 | CV567338 | single nucleotide variant | NM_005343.4(HRAS):c.461A>T (p.Asp154Val) | Costello syndrome [RCV000701626]|HRAS-related disorder [RCV003892562] | uncertain significance | 11 | 532745 | 532745 | Human | 1 | name , trait , alternate_id |
| 13822164 | CV567341 | single nucleotide variant | NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) | Costello syndrome [RCV000696822] | uncertain significance | 11 | 533479 | 533479 | Human | 1 | name |
| 14712188 | CV640150 | single nucleotide variant | NM_005343.4(HRAS):c.538G>A (p.Gly180Ser) | Costello syndrome [RCV000810206]|not provided [RCV002269317] | uncertain significance | 11 | 532668 | 532668 | Human | 1 | name |
| 14731302 | CV640151 | single nucleotide variant | NM_005343.4(HRAS):c.532G>C (p.Gly178Arg) | Costello syndrome [RCV000817769] | uncertain significance | 11 | 532674 | 532674 | Human | 1 | name |
| 14721250 | CV640152 | single nucleotide variant | NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) | Costello syndrome [RCV000797018]|Noonan syndrome [RCV001261054] | uncertain significance | 11 | 532686 | 532686 | Human | 2 | name |
| 14723235 | CV640153 | single nucleotide variant | NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) | Costello syndrome [RCV000797879]|Large congenital melanocytic nevus [RCV002501060]|not provided [RCV001592979] | uncertain significance | 11 | 532725 | 532725 | Human | 7 | name |
| 14706147 | CV640154 | single nucleotide variant | NM_005343.4(HRAS):c.382C>T (p.Arg128Trp) | Costello syndrome [RCV000791901] | uncertain significance | 11 | 533521 | 533521 | Human | 1 | name |
| 15136997 | CV738027 | single nucleotide variant | NM_005343.4(HRAS):c.535C>G (p.Pro179Ala) | Costello syndrome [RCV000898724] | likely benign | 11 | 532671 | 532671 | Human | 1 | name |
| 26922167 | CV838558 | single nucleotide variant | NM_005343.4(HRAS):c.565T>G (p.Ser189Ala) | Costello syndrome [RCV001061654] | uncertain significance | 11 | 532641 | 532641 | Human | 1 | name |
| 26905952 | CV838559 | single nucleotide variant | NM_005343.4(HRAS):c.548G>A (p.Ser183Asn) | Costello syndrome [RCV001037216]|Noonan syndrome [RCV001261055] | likely benign|uncertain significance | 11 | 532658 | 532658 | Human | 2 | name |
| 26913938 | CV838560 | single nucleotide variant | NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) | Costello syndrome [RCV001054590]|Large congenital melanocytic nevus [RCV002481991] | uncertain significance | 11 | 532715 | 532715 | Human | 7 | name |
| 26913173 | CV838561 | single nucleotide variant | NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys) | Costello syndrome [RCV001039872]|Hereditary cancer-predisposing syndrome [RCV002258094] | uncertain significance | 11 | 533481 | 533481 | Human | 2 | name |
| 26905185 | CV838562 | single nucleotide variant | NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) | Cardiovascular phenotype [RCV002320236]|Costello syndrome [RCV001036900]|Large congenital melanocytic nevus [RCV002505558] | uncertain significance | 11 | 533493 | 533493 | Human | 14 | name |
| 26889422 | CV838566 | microsatellite | NM_005343.4(HRAS):c.17TGG[3] (p.Val9del) | Costello syndrome [RCV001067470] | uncertain significance | 11 | 534295 | 534297 | Human | | name |
| 38481252 | CV926270 | single nucleotide variant | NM_005343.4(HRAS):c.544A>C (p.Met182Leu) | Costello syndrome [RCV001217922] | uncertain significance | 11 | 532662 | 532662 | Human | 1 | name |
| 38485038 | CV926271 | single nucleotide variant | NM_005343.4(HRAS):c.539G>A (p.Gly180Asp) | Costello syndrome [RCV001219695] | uncertain significance | 11 | 532667 | 532667 | Human | 1 | name |
| 38484446 | CV926272 | single nucleotide variant | NM_005343.4(HRAS):c.491G>A (p.Arg164Gln) | Costello syndrome [RCV001219438]|HRAS-related disorder [RCV003398958]|not provided [RCV001776147] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 532715 | 532715 | Human | 1 | name , trait , alternate_id |
| 38489881 | CV935593 | single nucleotide variant | NM_005343.4(HRAS):c.566C>T (p.Ser189Phe) | Costello syndrome [RCV001210405] | uncertain significance | 11 | 532640 | 532640 | Human | 1 | name |
| 38474054 | CV935594 | single nucleotide variant | NM_005343.4(HRAS):c.503T>C (p.Leu168Pro) | Costello syndrome [RCV001203653]|Noonan syndrome and Noonan-related syndrome [RCV001813581]|not provided [RCV004697069] | uncertain significance | 11 | 532703 | 532703 | Human | 1 | name |
| 38478725 | CV935595 | single nucleotide variant | NM_005343.4(HRAS):c.463G>T (p.Ala155Ser) | Costello syndrome [RCV001205671] | uncertain significance | 11 | 532743 | 532743 | Human | 1 | name |
| 38477031 | CV935596 | single nucleotide variant | NM_005343.4(HRAS):c.426C>G (p.Ile142Met) | Cardiovascular phenotype [RCV002327468]|Costello syndrome [RCV001204909] | uncertain significance | 11 | 533477 | 533477 | Human | 1 | name |
| 38486161 | CV935597 | single nucleotide variant | NM_005343.4(HRAS):c.407G>A (p.Ser136Asn) | Costello syndrome [RCV001208775] | uncertain significance | 11 | 533496 | 533496 | Human | 1 | name |
| 38496820 | CV947499 | single nucleotide variant | NM_005343.4(HRAS):c.427G>C (p.Glu143Gln) | Costello syndrome [RCV001226647]|not provided [RCV004768941] | uncertain significance | 11 | 533476 | 533476 | Human | 1 | name |
| 38475724 | CV947500 | single nucleotide variant | NM_005343.4(HRAS):c.419C>T (p.Pro140Leu) | Cardiovascular phenotype [RCV004033178]|Costello syndrome [RCV001232757] | uncertain significance | 11 | 533484 | 533484 | Human | 1 | name |
| 38480442 | CV947501 | single nucleotide variant | NM_005343.4(HRAS):c.383G>A (p.Arg128Gln) | Costello syndrome [RCV001234711] | uncertain significance | 11 | 533520 | 533520 | Human | 1 | name |
| 38490571 | CV956531 | single nucleotide variant | NM_005343.4(HRAS):c.464C>T (p.Ala155Val) | Costello syndrome [RCV001238905] | uncertain significance | 11 | 532742 | 532742 | Human | 1 | name |
| 40813850 | CV969664 | single nucleotide variant | NM_005343.4(HRAS):c.374T>C (p.Val125Ala) | Costello syndrome [RCV001880001]|Noonan syndrome [RCV001261052] | uncertain significance | 11 | 533529 | 533529 | Human | 2 | name |
| 126760876 | CV994565 | single nucleotide variant | NM_005343.4(HRAS):c.560T>C (p.Val187Ala) | Costello syndrome [RCV001309436] | uncertain significance | 11 | 532646 | 532646 | Human | 1 | name |
| 126740947 | CV994566 | single nucleotide variant | NM_005343.4(HRAS):c.469T>C (p.Tyr157His) | Costello syndrome [RCV001305343] | uncertain significance | 11 | 532737 | 532737 | Human | 1 | name |
| 126755872 | CV994567 | single nucleotide variant | NM_005343.4(HRAS):c.404G>A (p.Arg135Gln) | Costello syndrome [RCV001298446] | uncertain significance | 11 | 533499 | 533499 | Human | 1 | name |
| 152157101 | CV1668962 | inversion | NM_005343.4(HRAS):c.37_38inv (p.Gly13Pro) | not specified [RCV002223171] | uncertain significance | 11 | 534285 | 534286 | Human | | name |
| 13519671 | CV487315 | duplication | NM_005343.4(HRAS):c.27_29dup (p.Gly10dup) | not provided [RCV000586325] | uncertain significance | 11 | 534293 | 534294 | Human | | name |
| 11349237 | CV241157 | deletion | NM_005343.4(HRAS):c.174_192del (p.Gly60fs) | Costello syndrome [RCV000229731] | uncertain significance | 11 | 533864 | 533882 | Human | 1 | name |
| 14702867 | CV653975 | duplication | NM_005343.4(HRAS):c.188_230dup (p.Phe78fs) | Costello syndrome [RCV000824932] | uncertain significance | 11 | 533825 | 533826 | Human | 1 | name |
| 150557220 | CV1311425 | deletion | NM_176795.5(HRAS):c.488_497del (p.Leu163fs) | Costello syndrome [RCV001775533]|not provided [RCV005057609] | pathogenic|likely pathogenic | 11 | 533312 | 533321 | Human | 1 | name |
| 151742562 | CV1431636 | deletion | NM_005343.4(HRAS):c.474_475del (p.Leu159fs) | Costello syndrome [RCV001926608] | uncertain significance | 11 | 532731 | 532732 | Human | | name |
| 155643740 | CV1709536 | indel | NM_005343.4(HRAS):c.149delinsGA (p.Thr50fs) | Prostate cancer, hereditary, 1 [RCV002292419] | uncertain significance | 11 | 533907 | 533907 | Human | | name |
| 155643742 | CV1709538 | insertion | NM_005343.4(HRAS):c.144_145insC (p.Glu49fs) | Prostate cancer, hereditary, 1 [RCV002292421] | uncertain significance | 11 | 533911 | 533912 | Human | 1 | name |
| 156293598 | CV1883952 | microsatellite | NM_005343.4(HRAS):c.529_530del (p.Ser177fs) | Costello syndrome [RCV003087592] | uncertain significance | 11 | 532676 | 532677 | Human | | name |
| 155928557 | CV2095878 | duplication | NM_005343.4(HRAS):c.177_433dup (p.Glu98Ter) | Costello syndrome [RCV002903700] | uncertain significance | 11 | 533463 | 533464 | Human | 1 | name |
| 8568001 | CV38867 | duplication | NM_005343.4(HRAS):c.108_110dup (p.Glu37dup) | Costello syndrome [RCV000022798] | pathogenic | 11 | 534212 | 534213 | Human | 1 | name |
| 26887811 | CV818441 | deletion | NM_176795.5(HRAS):c.488_507del (p.Leu163fs) | Costello syndrome [RCV003514457]|HRAS-related disorder [RCV003928669]|RASopathy [RCV001030086]|not provided [RCV001619882] | benign|likely benign | 11 | 533302 | 533321 | Human | 2 | name , trait , alternate_id |
| 38492752 | CV926273 | deletion | NM_005343.4(HRAS):c.412_431del (p.Gly138fs) | Costello syndrome [RCV001223776] | uncertain significance | 11 | 533472 | 533491 | Human | 1 | name |
| 155937438 | CV2075029 | deletion | NM_005343.4(HRAS):c.529_531del (p.Ser177del) | Costello syndrome [RCV002861544] | uncertain significance | 11 | 532675 | 532677 | Human | 1 | name |
| 156182077 | CV2155636 | deletion | NM_005343.4(HRAS):c.566_568del (p.Ser189del) | Costello syndrome [RCV003005736] | uncertain significance | 11 | 532638 | 532640 | Human | 1 | name |
| 405026268 | CV2901931 | deletion | NM_005343.4(HRAS):c.424_426del (p.Ile142del) | Costello syndrome [RCV003516394] | uncertain significance | 11 | 533477 | 533479 | Human | 1 | name |
| 155967986 | CV2077024 | deletion | NM_005343.4(HRAS):c.16_24del (p.Leu6_Val8del) | Costello syndrome [RCV002863174] | uncertain significance | 11 | 534299 | 534307 | Human | 1 | name |
| 9691716 | CV174805 | indel | NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) | Costello syndrome [RCV000150836]|not provided [RCV000255809] | pathogenic|likely pathogenic | 11 | 534287 | 534288 | Human | | name |
| 9832741 | CV179420 | indel | NM_005343.4(HRAS):c.35_36delinsAT (p.Gly12Asp) | not provided [RCV001678586] | pathogenic | 11 | 534287 | 534288 | Human | | name |
| 11580093 | CV264557 | indel | NM_005343.4(HRAS):c.35_36delinsTA (p.Gly12Val) | not provided [RCV000322736] | pathogenic | 11 | 534287 | 534288 | Human | | name |
| 9832744 | CV48900 | indel | NM_005343.4(HRAS):c.35_36delinsCT (p.Gly12Ala) | not provided [RCV000157929] | pathogenic | 11 | 534287 | 534288 | Human | | name |
| 150420863 | CV613672 | indel | NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val) | Costello syndrome [RCV001732216]|not provided [RCV001577794] | pathogenic | 11 | 534287 | 534288 | Human | | name |
| 405241331 | CV3176927 | indel | NM_005343.4(HRAS):c.473_475delinsG (p.Thr158fs) | Costello syndrome [RCV003867366] | uncertain significance | 11 | 532731 | 532733 | Human | | name |
| 9690372 | CV174803 | indel | NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) | Costello syndrome [RCV000156047] | likely pathogenic | 11 | 533880 | 533881 | Human | | name |
| 12848498 | CV363199 | indel | NM_005343.4(HRAS):c.182_183delinsGT (p.Gln61Arg) | Neoplasm [RCV000435225] | likely pathogenic | 11 | 533873 | 533874 | Human | | name |
| 12848477 | CV363200 | indel | NM_005343.4(HRAS):c.182_183delinsGA (p.Gln61Arg) | Neoplasm [RCV000418005] | likely pathogenic | 11 | 533873 | 533874 | Human | | name |
| 8591083 | CV125817 | duplication | NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup) | Costello syndrome [RCV000106320] | pathogenic | 11 | 533848 | 533849 | Human | 1 | name |
| 151804627 | CV1429750 | duplication | NM_005343.4(HRAS):c.171_185dup (p.Asp57_Gln61dup) | Costello syndrome [RCV001974222] | likely pathogenic|uncertain significance | 11 | 533870 | 533871 | Human | 1 | name |
| 13503811 | CV461391 | duplication | NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) | Costello syndrome [RCV000546898] | pathogenic|likely pathogenic|uncertain significance | 11 | 533849 | 533850 | Human | 1 | name |
| 151757979 | CV1443593 | deletion | NM_005343.4(HRAS):c.482_511del (p.Arg161_Lys170del) | Costello syndrome [RCV001872917] | uncertain significance | 11 | 532695 | 532724 | Human | 1 | name |
| 40813851 | CV969663 | duplication | NM_176795.5(HRAS):c.463_468dup (p.Gly155_Ser156dup) | Noonan syndrome [RCV001261053] | uncertain significance | 11 | 533340 | 533341 | Human | 1 | name |
| 155982050 | CV2090603 | insertion | NM_005343.4(HRAS):c.401_402insAAGACCTCGC (p.Ser136fs) | Costello syndrome [RCV002881981] | uncertain significance | 11 | 533501 | 533502 | Human | 1 | name |
| 407574679 | CV3495427 | duplication | NM_005343.4(HRAS):c.197_217dup (p.Met72_Arg73insProMetArgAspGlnTyrMet) | HRAS-related disorder [RCV004720184]|Vascular malformation [RCV005251391] | pathogenic|likely pathogenic | 11 | 533838 | 533839 | Human | 1 | name , trait , alternate_id |
| 153000855 | CV1683854 | duplication | NM_005343.4(HRAS):c.191_217dup (p.Met72_Arg73insHisSerAlaMetArgAspGlnTyrMet) | not provided [RCV002254473] | likely pathogenic | 11 | 533838 | 533839 | Human | | name |
| 401914244 | CV2799113 | duplication | NM_005343.4(HRAS):c.179_205dup (p.Arg68_Asp69insGlyGlnGluGluTyrSerAlaMetArg) | HRAS-related disorder [RCV003400256] | likely pathogenic | 11 | 533850 | 533851 | Human | | name , trait , alternate_id |
| 153000856 | CV1683855 | duplication | NM_005343.4(HRAS):c.191_220dup (p.Arg73_Thr74insAsnSerAlaMetArgAspGlnTyrMetArg) | not provided [RCV002254474] | likely pathogenic | 11 | 533835 | 533836 | Human | | name |
| 407574682 | CV3495431 | duplication | NM_005343.4(HRAS):c.203_232dup (p.Gly77_Phe78insTrpAspGlnTyrMetArgThrGlyGluGly) | HRAS-related disorder [RCV004720187] | pathogenic | 11 | 533823 | 533824 | Human | | name , trait , alternate_id |
| 15112400 | CV677975 | indel | NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal) | Arteriovenous malformation [RCV000860022] | pathogenic | 11 | 533879 | 533884 | Human | | name |
| 34896632 | CV917090 | insertion | NM_005343.4(HRAS):c.165_166insTCCGGAAGCAGGTGGTCATTGATGGGGAGACGTGCCTGTTGGACATC (p.Leu56fs) | not specified [RCV001194132] | uncertain significance | 11 | 533890 | 533891 | Human | | name |
| 598214615 | CV3890653 | insertion | NM_005343.4(HRAS):c.208_209insGGTGGTACAGCGCCATGCGGGACC (p.Asp69_Gln70insArgTrpTyrSerAlaMetArgAsp) | Arteriovenous malformation [RCV005251531] | likely pathogenic | 11 | 533847 | 533848 | Human | 2 | name |
| 405869355 | CV3397747 | insertion | NM_005343.4(HRAS):c.215_216insCTCCAGCGCCATGCGGGACCAGTACAT (p.Tyr71_Met72insIleSerSerAlaMetArgAspGlnTyr) | Vascular malformation [RCV004566498] | likely pathogenic | 11 | 533840 | 533841 | Human | 1 | name |
| 598214587 | CV3890641 | insertion | NM_005343.4(HRAS):c.216_217insAACAGCGCCATGCGGGACCAGTACATG (p.Met72_Arg73insAsnSerAlaMetArgAspGlnTyrMet) | Vascular malformation [RCV005251519] | likely pathogenic | 11 | 533839 | 533840 | Human | 1 | name |
| 8634264 | CV89482 | single nucleotide variant | HRASLS5:c.605G>A | Malignant melanoma [RCV000069579] | not provided | 11 | 63466252 | 63466252 | Human | | name |
| 8630735 | CV85890 | single nucleotide variant | NM_020386.4(HRASLS):c.400C>T (p.Gln134Ter) | Malignant melanoma [RCV000065974] | not provided | 3 | 193255735 | 193255735 | Human | | name |
| 8630736 | CV85891 | single nucleotide variant | NM_020386.4(HRASLS):c.793C>T (p.Pro265Ser) | Malignant melanoma [RCV000065975] | not provided | 3 | 193270676 | 193270676 | Human | | name |