| 405267159 | CV3218649 | single nucleotide variant | NM_002218.5(ITIH4):c.252-4C>G | ITIH4-related disorder [RCV003947299] | likely benign | 3 | 52827201 | 52827201 | Human | | name , trait , alternate_id |
| 21068584 | CV795460 | single nucleotide variant | NM_002218.5(ITIH4):c.760-7G>T | ITIH4-related disorder [RCV003904548] | likely benign|uncertain significance | 3 | 52824965 | 52824965 | Human | | name , trait , alternate_id |
| 8560857 | CV24081 | single nucleotide variant | NM_002218.5(ITIH4):c.2077+8G>A | Hypercholesterolemia, susceptibility to [RCV000009609] | risk factor|benign | 3 | 52819385 | 52819385 | Human | 1 | name |
| 405276363 | CV3193343 | single nucleotide variant | NM_002218.5(ITIH4):c.2296+8A>G | ITIH4-related disorder [RCV003974510] | benign | 3 | 52818044 | 52818044 | Human | | name , trait , alternate_id |
| 405280440 | CV3200770 | single nucleotide variant | NM_002218.5(ITIH4):c.2723+7T>C | ITIH4-related disorder [RCV003977395] | benign | 3 | 52813968 | 52813968 | Human | | name , trait , alternate_id |
| 15183910 | CV779161 | single nucleotide variant | NM_002218.5(ITIH4):c.2180-3C>T | not provided [RCV000974986] | benign | 3 | 52818171 | 52818171 | Human | | name |
| 405280419 | CV3200745 | single nucleotide variant | NM_002218.5(ITIH4):c.24T>C (p.Arg8=) | ITIH4-related disorder [RCV003977370] | benign | 3 | 52830619 | 52830619 | Human | | name , trait , alternate_id |
| 405279879 | CV3191523 | single nucleotide variant | NM_002218.5(ITIH4):c.45C>T (p.Val15=) | ITIH4-related disorder [RCV003919674] | likely benign | 3 | 52830598 | 52830598 | Human | | name , trait , alternate_id |
| 405280350 | CV3200686 | single nucleotide variant | NM_002218.5(ITIH4):c.75T>C (p.Thr25=) | ITIH4-related disorder [RCV003977311] | benign | 3 | 52830568 | 52830568 | Human | | name , trait , alternate_id |
| 405279717 | CV3217608 | single nucleotide variant | NM_002218.5(ITIH4):c.117C>T (p.Thr39=) | ITIH4-related disorder [RCV003976982] | likely benign | 3 | 52829253 | 52829253 | Human | | name , trait , alternate_id |
| 405290682 | CV3197098 | single nucleotide variant | NM_002218.5(ITIH4):c.390G>A (p.Val130=) | ITIH4-related disorder [RCV003984660] | benign | 3 | 52826920 | 52826920 | Human | 2 | name , trait , alternate_id |
| 15170686 | CV698244 | single nucleotide variant | NM_002218.5(ITIH4):c.363C>T (p.Thr121=) | not provided [RCV000949696] | benign | 3 | 52826947 | 52826947 | Human | | name |
| 15123697 | CV708984 | single nucleotide variant | NM_002218.5(ITIH4):c.450C>T (p.Leu150=) | not provided [RCV000963290] | benign | 3 | 52826860 | 52826860 | Human | 1 | name |
| 15123697 | CV708984 | single nucleotide variant | NM_002218.5(ITIH4):c.450C>T (p.Leu150=) | not provided [RCV000963290] | benign | 3 | 52826860 | 52826861 | Human | 1 | name |
| 15196225 | CV764095 | single nucleotide variant | NM_002218.5(ITIH4):c.492G>A (p.Arg164=) | not provided [RCV000934161] | likely benign | 3 | 52826818 | 52826818 | Human | | name |
| 8630908 | CV86064 | single nucleotide variant | NM_002218.4(ITIH4):c.675C>T (p.Ser225=) | Malignant melanoma [RCV000066148] | not provided | 3 | 52825970 | 52825970 | Human | | name |
| 156048180 | CV2315749 | single nucleotide variant | NM_002218.5(ITIH4):c.167G>A (p.Arg56Gln) | not specified [RCV004169757] | uncertain significance | 3 | 52829203 | 52829203 | Human | | name |
| 405262714 | CV3196911 | single nucleotide variant | NM_002218.5(ITIH4):c.2226T>C (p.Ser742=) | ITIH4-related disorder [RCV003967404] | benign | 3 | 52818122 | 52818122 | Human | 1 | name , trait , alternate_id |
| 405271473 | CV3202872 | single nucleotide variant | NM_002218.5(ITIH4):c.1152C>T (p.Thr384=) | ITIH4-related disorder [RCV003913934] | likely benign | 3 | 52824209 | 52824209 | Human | | name , trait , alternate_id |
| 405270025 | CV3215362 | single nucleotide variant | NM_002218.5(ITIH4):c.1512G>A (p.Val504=) | ITIH4-related disorder [RCV003949121] | likely benign | 3 | 52823583 | 52823583 | Human | | name , trait , alternate_id |
| 405287987 | CV3218028 | single nucleotide variant | NM_002218.5(ITIH4):c.254T>A (p.Ile85Asn) | ITIH4-related disorder [RCV003982152] | benign | 3 | 52827195 | 52827195 | Human | 6 | name , trait , alternate_id |
| 405785893 | CV3268275 | single nucleotide variant | NM_002218.5(ITIH4):c.185A>G (p.Asn62Ser) | not specified [RCV004398460] | likely benign | 3 | 52829185 | 52829185 | Human | | name |
| 408367419 | CV3512256 | single nucleotide variant | NM_002218.5(ITIH4):c.2055C>T (p.His685=) | ITIH4-related disorder [RCV004758463] | likely benign | 3 | 52819415 | 52819415 | Human | | name , trait , alternate_id |
| 597794115 | CV3687147 | single nucleotide variant | NM_002218.5(ITIH4):c.134C>T (p.Ser45Leu) | not specified [RCV004934406] | uncertain significance | 3 | 52829236 | 52829236 | Human | | name |
| 598258053 | CV3972890 | single nucleotide variant | NM_002218.5(ITIH4):c.152C>T (p.Thr51Met) | not specified [RCV005347117] | uncertain significance | 3 | 52829218 | 52829218 | Human | | name |
| 15170682 | CV698243 | single nucleotide variant | NM_002218.5(ITIH4):c.1209G>A (p.Arg403=) | not provided [RCV000949695] | benign | 3 | 52823967 | 52823967 | Human | | name |
| 15161886 | CV748441 | single nucleotide variant | NM_002218.5(ITIH4):c.2184C>T (p.Pro728=) | ITIH4-related disorder [RCV003933137]|not provided [RCV000925777] | benign|likely benign | 3 | 52818164 | 52818164 | Human | | name , trait , alternate_id |
| 15131854 | CV764094 | single nucleotide variant | NM_002218.5(ITIH4):c.1155T>C (p.Asp385=) | not provided [RCV000942297] | benign | 3 | 52824206 | 52824206 | Human | | name |
| 8630907 | CV86063 | single nucleotide variant | NM_002218.4(ITIH4):c.1047G>A (p.Gly349=) | Malignant melanoma [RCV000066147] | not provided | 3 | 52824314 | 52824314 | Human | | name |
| 156401705 | CV2217577 | single nucleotide variant | NM_002218.5(ITIH4):c.749G>A (p.Gly250Asp) | not specified [RCV004090107] | uncertain significance | 3 | 52825896 | 52825896 | Human | | name |
| 156142276 | CV2288686 | single nucleotide variant | NM_002218.5(ITIH4):c.708C>A (p.Asn236Lys) | not specified [RCV004153978] | uncertain significance | 3 | 52825937 | 52825937 | Human | | name |
| 155912139 | CV2308654 | single nucleotide variant | NM_002218.5(ITIH4):c.558T>G (p.Phe186Leu) | not specified [RCV004167205] | uncertain significance | 3 | 52826613 | 52826613 | Human | | name |
| 156131643 | CV2365575 | single nucleotide variant | NM_002218.5(ITIH4):c.319G>A (p.Ala107Thr) | not specified [RCV004212098] | likely benign | 3 | 52827130 | 52827130 | Human | | name |
| 329382156 | CV2438502 | single nucleotide variant | NM_002218.5(ITIH4):c.797A>G (p.Glu266Gly) | not specified [RCV004259648] | uncertain significance | 3 | 52824921 | 52824921 | Human | | name |
| 401727448 | CV2681027 | single nucleotide variant | NM_002218.5(ITIH4):c.454C>T (p.Arg152Trp) | not specified [RCV004296092] | uncertain significance | 3 | 52826856 | 52826856 | Human | | name |
| 405785938 | CV3268284 | single nucleotide variant | NM_002218.5(ITIH4):c.446T>A (p.Leu149Gln) | not specified [RCV004398469] | uncertain significance | 3 | 52826864 | 52826864 | Human | | name |
| 405785943 | CV3268285 | single nucleotide variant | NM_002218.5(ITIH4):c.455G>A (p.Arg152Gln) | not specified [RCV004398470] | uncertain significance | 3 | 52826855 | 52826855 | Human | | name |
| 405785947 | CV3268286 | single nucleotide variant | NM_002218.5(ITIH4):c.463G>T (p.Gly155Trp) | not specified [RCV004398471] | uncertain significance | 3 | 52826847 | 52826847 | Human | | name |
| 405785950 | CV3268287 | single nucleotide variant | NM_002218.5(ITIH4):c.812T>C (p.Met271Thr) | not specified [RCV004398472] | uncertain significance | 3 | 52824906 | 52824906 | Human | | name |
| 407459194 | CV3451783 | single nucleotide variant | NM_002218.5(ITIH4):c.811A>G (p.Met271Val) | not specified [RCV004633531] | uncertain significance | 3 | 52824907 | 52824907 | Human | | name |
| 597794013 | CV3687135 | single nucleotide variant | NM_002218.5(ITIH4):c.457C>T (p.Arg153Cys) | not specified [RCV004934393] | likely benign | 3 | 52826853 | 52826853 | Human | | name |
| 597794094 | CV3687140 | single nucleotide variant | NM_002218.5(ITIH4):c.932A>C (p.Asn311Thr) | not specified [RCV004934399] | uncertain significance | 3 | 52824510 | 52824510 | Human | | name |
| 597794109 | CV3687145 | single nucleotide variant | NM_002218.5(ITIH4):c.718C>T (p.Arg240Cys) | not specified [RCV004934404] | uncertain significance | 3 | 52825927 | 52825927 | Human | | name |
| 598258046 | CV3972887 | single nucleotide variant | NM_002218.5(ITIH4):c.925C>G (p.Gln309Glu) | not specified [RCV005347115] | uncertain significance | 3 | 52824517 | 52824517 | Human | | name |
| 598258057 | CV3972891 | single nucleotide variant | NM_002218.5(ITIH4):c.464G>A (p.Gly155Glu) | not specified [RCV005347118] | uncertain significance | 3 | 52826846 | 52826846 | Human | | name |
| 15149849 | CV708985 | single nucleotide variant | NM_002218.5(ITIH4):c.352G>A (p.Val118Ile) | not provided [RCV000967831] | benign | 3 | 52827097 | 52827097 | Human | | name |
| 156317270 | CV2203946 | single nucleotide variant | NM_002218.5(ITIH4):c.2557C>T (p.Arg853Cys) | not specified [RCV004069994] | uncertain significance | 3 | 52814278 | 52814278 | Human | | name |
| 156070777 | CV2204075 | single nucleotide variant | NM_002218.5(ITIH4):c.1499G>A (p.Arg500Gln) | not specified [RCV004076542] | likely benign | 3 | 52823596 | 52823596 | Human | | name |
| 156333622 | CV2214628 | single nucleotide variant | NM_002218.5(ITIH4):c.2584C>G (p.Arg862Gly) | not specified [RCV004090459] | uncertain significance | 3 | 52814251 | 52814251 | Human | | name |
| 156048887 | CV2220249 | single nucleotide variant | NM_002218.5(ITIH4):c.1000G>A (p.Val334Met) | not specified [RCV004095684] | uncertain significance | 3 | 52824442 | 52824442 | Human | | name |
| 156300880 | CV2244995 | single nucleotide variant | NM_002218.5(ITIH4):c.2611G>A (p.Val871Ile) | not specified [RCV004104727] | uncertain significance | 3 | 52814224 | 52814224 | Human | | name |
| 156139597 | CV2250528 | single nucleotide variant | NM_002218.5(ITIH4):c.2761G>A (p.Val921Met) | not specified [RCV004127390] | uncertain significance | 3 | 52813453 | 52813453 | Human | | name |
| 155991480 | CV2255673 | single nucleotide variant | NM_002218.5(ITIH4):c.1447C>T (p.Arg483Trp) | not specified [RCV004120074] | uncertain significance | 3 | 52823648 | 52823648 | Human | | name |
| 156266747 | CV2275496 | single nucleotide variant | NM_002218.5(ITIH4):c.1112G>A (p.Arg371Gln) | not specified [RCV004137149] | uncertain significance | 3 | 52824249 | 52824249 | Human | | name |
| 156086075 | CV2295300 | single nucleotide variant | NM_002218.5(ITIH4):c.2398C>A (p.His800Asn) | not specified [RCV004158671] | uncertain significance | 3 | 52816957 | 52816957 | Human | | name |
| 156267660 | CV2296692 | single nucleotide variant | NM_002218.5(ITIH4):c.2263G>T (p.Gly755Trp) | not specified [RCV004148604] | uncertain significance | 3 | 52818085 | 52818085 | Human | | name |
| 155916207 | CV2336105 | single nucleotide variant | NM_002218.5(ITIH4):c.2585G>A (p.Arg862His) | not specified [RCV004189700] | uncertain significance | 3 | 52814250 | 52814250 | Human | | name |
| 156331893 | CV2339705 | single nucleotide variant | NM_002218.5(ITIH4):c.2222A>T (p.Gln741Leu) | not specified [RCV004196407] | uncertain significance | 3 | 52818126 | 52818126 | Human | | name |
| 156344932 | CV2346279 | single nucleotide variant | NM_002218.5(ITIH4):c.1025C>T (p.Ala342Val) | not specified [RCV004203767] | uncertain significance | 3 | 52824417 | 52824417 | Human | | name |
| 156147793 | CV2377279 | single nucleotide variant | NM_002218.5(ITIH4):c.1522A>G (p.Thr508Ala) | not specified [RCV004225468] | uncertain significance | 3 | 52823573 | 52823573 | Human | | name |
| 329354112 | CV2437023 | single nucleotide variant | NM_002218.5(ITIH4):c.2573G>A (p.Arg858Gln) | not specified [RCV004260388] | uncertain significance | 3 | 52814262 | 52814262 | Human | | name |
| 329396136 | CV2451909 | single nucleotide variant | NM_002218.5(ITIH4):c.2416A>C (p.Asn806His) | not specified [RCV004276581] | uncertain significance | 3 | 52816939 | 52816939 | Human | | name |
| 329402394 | CV2454238 | single nucleotide variant | NM_002218.5(ITIH4):c.1919C>T (p.Ser640Phe) | not specified [RCV004265715] | uncertain significance | 3 | 52819786 | 52819786 | Human | | name |
| 329361941 | CV2456569 | single nucleotide variant | NM_002218.5(ITIH4):c.1426G>C (p.Glu476Gln) | not specified [RCV004277769] | uncertain significance | 3 | 52823669 | 52823669 | Human | | name |
| 329393802 | CV2472132 | single nucleotide variant | NM_002218.5(ITIH4):c.1225C>T (p.Arg409Trp) | not specified [RCV004283261] | uncertain significance | 3 | 52823951 | 52823951 | Human | | name |
| 401752483 | CV2682835 | single nucleotide variant | NM_002218.5(ITIH4):c.2063G>A (p.Arg688His) | not specified [RCV004281803] | uncertain significance | 3 | 52819407 | 52819407 | Human | | name |
| 401740380 | CV2683342 | single nucleotide variant | NM_002218.5(ITIH4):c.1226G>A (p.Arg409Gln) | not specified [RCV004288117] | likely benign | 3 | 52823950 | 52823950 | Human | | name |
| 401744491 | CV2688174 | single nucleotide variant | NM_002218.5(ITIH4):c.1072A>G (p.Met358Val) | not specified [RCV004305217] | likely benign | 3 | 52824289 | 52824289 | Human | | name |
| 401732705 | CV2708946 | single nucleotide variant | NM_002218.5(ITIH4):c.1315C>A (p.Arg439Ser) | not specified [RCV004309913] | uncertain significance | 3 | 52823861 | 52823861 | Human | | name |
| 401774847 | CV2713666 | single nucleotide variant | NM_002218.5(ITIH4):c.1633G>A (p.Glu545Lys) | not specified [RCV004321032] | uncertain significance | 3 | 52821037 | 52821037 | Human | | name |
| 401784244 | CV2721190 | single nucleotide variant | NM_002218.5(ITIH4):c.1601A>G (p.Gln534Arg) | not specified [RCV004330158] | likely benign | 3 | 52821069 | 52821069 | Human | | name |
| 401743592 | CV2726124 | single nucleotide variant | NM_002218.5(ITIH4):c.2129G>T (p.Arg710Leu) | not specified [RCV004326610] | uncertain significance | 3 | 52818485 | 52818485 | Human | | name |
| 401783353 | CV2727879 | single nucleotide variant | NM_002218.5(ITIH4):c.2548T>C (p.Trp850Arg) | not specified [RCV004323893] | uncertain significance | 3 | 52814287 | 52814287 | Human | | name |
| 401884017 | CV2764989 | single nucleotide variant | NM_002218.5(ITIH4):c.1448G>A (p.Arg483Gln) | not specified [RCV004337114] | uncertain significance | 3 | 52823647 | 52823647 | Human | | name |
| 405276148 | CV3193296 | single nucleotide variant | NM_002218.5(ITIH4):c.2372T>C (p.Leu791Pro) | ITIH4-related disorder [RCV003974463] | benign | 3 | 52816983 | 52816983 | Human | | name , trait , alternate_id |
| 405276178 | CV3193307 | single nucleotide variant | NM_002218.5(ITIH4):c.2142G>C (p.Met714Ile) | ITIH4-related disorder [RCV003974474] | benign | 3 | 52818472 | 52818472 | Human | | name , trait , alternate_id |
| 405276333 | CV3193332 | single nucleotide variant | NM_002218.5(ITIH4):c.2092C>A (p.Pro698Thr) | ITIH4-related disorder [RCV003974499] | benign | 3 | 52818522 | 52818522 | Human | 7 | name , trait , alternate_id |
| 405284593 | CV3196938 | single nucleotide variant | NM_002218.5(ITIH4):c.2006A>T (p.Gln669Leu) | ITIH4-related disorder [RCV003979788] | benign | 3 | 52819464 | 52819464 | Human | | name , trait , alternate_id |
| 405785873 | CV3268271 | single nucleotide variant | NM_002218.5(ITIH4):c.1300G>A (p.Gly434Ser) | not specified [RCV004398456] | uncertain significance | 3 | 52823876 | 52823876 | Human | | name |
| 405785878 | CV3268272 | single nucleotide variant | NM_002218.5(ITIH4):c.1303G>A (p.Gly435Ser) | not specified [RCV004398457] | uncertain significance | 3 | 52823873 | 52823873 | Human | | name |
| 405785883 | CV3268273 | single nucleotide variant | NM_002218.5(ITIH4):c.1312C>T (p.Arg438Trp) | not specified [RCV004398458] | uncertain significance | 3 | 52823864 | 52823864 | Human | | name |
| 405785899 | CV3268276 | single nucleotide variant | NM_002218.5(ITIH4):c.1970G>A (p.Arg657Gln) | not specified [RCV004398461] | uncertain significance | 3 | 52819500 | 52819500 | Human | | name |
| 405785904 | CV3268277 | single nucleotide variant | NM_002218.5(ITIH4):c.2149G>A (p.Glu717Lys) | not specified [RCV004398462] | likely benign | 3 | 52818465 | 52818465 | Human | | name |
| 405785909 | CV3268278 | single nucleotide variant | NM_002218.5(ITIH4):c.2234G>A (p.Arg745Gln) | not specified [RCV004398463] | likely benign | 3 | 52818114 | 52818114 | Human | | name |
| 405785914 | CV3268279 | single nucleotide variant | NM_002218.5(ITIH4):c.2257C>T (p.Arg753Cys) | not specified [RCV004398464] | uncertain significance | 3 | 52818091 | 52818091 | Human | | name |
| 405785918 | CV3268280 | single nucleotide variant | NM_002218.5(ITIH4):c.2497G>A (p.Gly833Ser) | not specified [RCV004398465] | uncertain significance | 3 | 52814338 | 52814338 | Human | | name |
| 405785924 | CV3268281 | single nucleotide variant | NM_002218.5(ITIH4):c.2558G>A (p.Arg853His) | not specified [RCV004398466] | uncertain significance | 3 | 52814277 | 52814277 | Human | | name |
| 405785929 | CV3268282 | single nucleotide variant | NM_002218.5(ITIH4):c.2558G>T (p.Arg853Leu) | not specified [RCV004398467] | uncertain significance | 3 | 52814277 | 52814277 | Human | | name |
| 405785933 | CV3268283 | single nucleotide variant | NM_002218.5(ITIH4):c.2750G>C (p.Gly917Ala) | not specified [RCV004398468] | uncertain significance | 3 | 52813464 | 52813464 | Human | | name |
| 407459183 | CV3451780 | single nucleotide variant | NM_002218.5(ITIH4):c.1343T>C (p.Leu448Pro) | not specified [RCV004633528] | uncertain significance | 3 | 52823833 | 52823833 | Human | | name |
| 407459186 | CV3451781 | single nucleotide variant | NM_002218.5(ITIH4):c.2426G>A (p.Ser809Asn) | not specified [RCV004633529] | likely benign | 3 | 52816929 | 52816929 | Human | | name |
| 407459190 | CV3451782 | single nucleotide variant | NM_002218.5(ITIH4):c.1682T>C (p.Val561Ala) | not specified [RCV004633530] | uncertain significance | 3 | 52820783 | 52820783 | Human | | name |
| 407459196 | CV3451784 | single nucleotide variant | NM_002218.5(ITIH4):c.2525A>G (p.Lys842Arg) | not specified [RCV004633532] | likely benign | 3 | 52814310 | 52814310 | Human | | name |
| 407459204 | CV3451787 | single nucleotide variant | NM_002218.5(ITIH4):c.1825A>T (p.Met609Leu) | not specified [RCV004633534] | uncertain significance | 3 | 52820640 | 52820640 | Human | | name |
| 597794086 | CV3687137 | single nucleotide variant | NM_002218.5(ITIH4):c.2756C>T (p.Pro919Leu) | not specified [RCV004934396] | uncertain significance | 3 | 52813458 | 52813458 | Human | | name |
| 597794089 | CV3687138 | single nucleotide variant | NM_002218.5(ITIH4):c.1135C>T (p.Leu379Phe) | not specified [RCV004934397] | uncertain significance | 3 | 52824226 | 52824226 | Human | | name |
| 597794091 | CV3687139 | single nucleotide variant | NM_002218.5(ITIH4):c.1135C>G (p.Leu379Val) | not specified [RCV004934398] | uncertain significance | 3 | 52824226 | 52824226 | Human | | name |
| 597794097 | CV3687141 | single nucleotide variant | NM_002218.5(ITIH4):c.2322G>T (p.Glu774Asp) | not specified [RCV004934400] | uncertain significance | 3 | 52817033 | 52817033 | Human | | name |
| 597794100 | CV3687142 | single nucleotide variant | NM_002218.5(ITIH4):c.1247G>A (p.Gly416Asp) | not specified [RCV004934401] | uncertain significance | 3 | 52823929 | 52823929 | Human | | name |
| 597794103 | CV3687143 | single nucleotide variant | NM_002218.5(ITIH4):c.1967C>T (p.Ser656Phe) | not specified [RCV004934402] | likely benign | 3 | 52819503 | 52819503 | Human | | name |
| 597794112 | CV3687146 | single nucleotide variant | NM_002218.5(ITIH4):c.1553T>G (p.Ile518Ser) | not specified [RCV004934405] | uncertain significance | 3 | 52821117 | 52821117 | Human | | name |
| 597794117 | CV3687148 | single nucleotide variant | NM_002218.5(ITIH4):c.2575C>T (p.Leu859Phe) | not specified [RCV004934407] | uncertain significance | 3 | 52814260 | 52814260 | Human | | name |
| 597794120 | CV3687149 | single nucleotide variant | NM_002218.5(ITIH4):c.2683C>T (p.Arg895Cys) | not specified [RCV004934408] | uncertain significance | 3 | 52814015 | 52814015 | Human | | name |
| 597794124 | CV3687150 | single nucleotide variant | NM_002218.5(ITIH4):c.1687G>A (p.Ala563Thr) | not specified [RCV004934409] | uncertain significance | 3 | 52820778 | 52820778 | Human | | name |
| 597794127 | CV3687151 | single nucleotide variant | NM_002218.5(ITIH4):c.2079G>T (p.Leu693Phe) | not specified [RCV004934410] | uncertain significance | 3 | 52818535 | 52818535 | Human | | name |
| 597794129 | CV3687152 | single nucleotide variant | NM_002218.5(ITIH4):c.2733G>T (p.Arg911Ser) | not specified [RCV004934411] | uncertain significance | 3 | 52813481 | 52813481 | Human | | name |
| 597794133 | CV3687153 | single nucleotide variant | NM_002218.5(ITIH4):c.1339G>T (p.Ala447Ser) | not specified [RCV004934412] | uncertain significance | 3 | 52823837 | 52823837 | Human | | name |
| 597794139 | CV3687155 | single nucleotide variant | NM_002218.5(ITIH4):c.2266C>T (p.Pro756Ser) | not specified [RCV004934414] | uncertain significance | 3 | 52818082 | 52818082 | Human | | name |
| 597794142 | CV3687156 | single nucleotide variant | NM_002218.5(ITIH4):c.1298A>G (p.Asn433Ser) | not specified [RCV004934415] | uncertain significance | 3 | 52823878 | 52823878 | Human | | name |
| 598258041 | CV3972885 | single nucleotide variant | NM_002218.5(ITIH4):c.1420G>A (p.Val474Met) | not specified [RCV005347114] | uncertain significance | 3 | 52823675 | 52823675 | Human | | name |
| 598171460 | CV3972886 | single nucleotide variant | NM_002218.5(ITIH4):c.2687C>T (p.Thr896Met) | not specified [RCV005370588] | likely benign | 3 | 52814011 | 52814011 | Human | | name |
| 598171467 | CV3972888 | single nucleotide variant | NM_002218.5(ITIH4):c.1990G>C (p.Val664Leu) | not specified [RCV005370589] | uncertain significance | 3 | 52819480 | 52819480 | Human | | name |
| 598258062 | CV3972892 | single nucleotide variant | NM_002218.5(ITIH4):c.2576T>C (p.Leu859Pro) | not specified [RCV005347119] | uncertain significance | 3 | 52814259 | 52814259 | Human | | name |
| 598171473 | CV3972893 | single nucleotide variant | NM_002218.5(ITIH4):c.1696G>A (p.Ala566Thr) | not specified [RCV005370590] | uncertain significance | 3 | 52820769 | 52820769 | Human | | name |
| 598258067 | CV3972894 | single nucleotide variant | NM_002218.5(ITIH4):c.1714C>T (p.Arg572Trp) | not specified [RCV005347120] | uncertain significance | 3 | 52820751 | 52820751 | Human | | name |
| 15198503 | CV698242 | single nucleotide variant | NM_002218.5(ITIH4):c.2677G>A (p.Gly893Ser) | not provided [RCV000956775] | benign | 3 | 52814021 | 52814021 | Human | | name |
| 15176939 | CV720576 | single nucleotide variant | NM_002218.5(ITIH4):c.1204G>A (p.Val402Met) | ITIH4-related disorder [RCV003940503]|not provided [RCV000884705] | likely benign|conflicting interpretations of pathogenicity | 3 | 52823972 | 52823972 | Human | | name , trait , alternate_id |
| 21068581 | CV795457 | single nucleotide variant | NM_002218.5(ITIH4):c.2596C>T (p.Arg866Cys) | not provided [RCV000998087] | uncertain significance | 3 | 52814239 | 52814239 | Human | | name |
| 21068582 | CV795458 | single nucleotide variant | NM_002218.5(ITIH4):c.2233C>T (p.Arg745Trp) | not specified [RCV004934395] | uncertain significance | 3 | 52818115 | 52818115 | Human | | name |
| 21068583 | CV795459 | single nucleotide variant | NM_002218.5(ITIH4):c.2066G>A (p.Arg689His) | not provided [RCV000998089] | uncertain significance | 3 | 52819404 | 52819404 | Human | | name |
