| 11619198 | CV325331 | single nucleotide variant | NM_000073.3(CD3G):c.-17G>T | Combined immunodeficiency due to CD3gamma deficiency [RCV000322487]|not provided [RCV004692986] | uncertain significance | 11 | 118344407 | 118344407 | Human | 1 | name , trait |
| 126766020 | CV1009529 | single nucleotide variant | NM_000073.3(CD3G):c.79+3A>G | Combined immunodeficiency due to CD3gamma deficiency [RCV001320273] | uncertain significance | 11 | 118349053 | 118349053 | Human | 1 | name , trait |
| 127293873 | CV1121097 | single nucleotide variant | NM_000073.3(CD3G):c.55+8C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV001476679] | likely benign | 11 | 118344486 | 118344486 | Human | 1 | name , trait |
| 11608433 | CV312549 | single nucleotide variant | NM_000073.3(CD3G):c.*450T>G | Combined immunodeficiency due to CD3gamma deficiency [RCV000354876] | uncertain significance | 11 | 118353550 | 118353550 | Human | 1 | name , trait |
| 11607943 | CV318503 | single nucleotide variant | NM_000073.3(CD3G):c.*244A>G | Combined immunodeficiency due to CD3gamma deficiency [RCV000349036]|not provided [RCV004708188] | benign|likely benign | 11 | 118353344 | 118353344 | Human | 2 | name , trait |
| 11607943 | CV318503 | single nucleotide variant | NM_000073.3(CD3G):c.*244A>G | Combined immunodeficiency due to CD3gamma deficiency [RCV000349036]|not provided [RCV004708188] | benign|likely benign | 11 | 118353344 | 118353345 | Human | 2 | name , trait |
| 11659713 | CV318516 | single nucleotide variant | NM_000073.3(CD3G):c.*500G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV000360486] | uncertain significance | 11 | 118353600 | 118353600 | Human | 1 | name , trait |
| 11618358 | CV324608 | single nucleotide variant | NM_000073.3(CD3G):c.*112C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV000313018] | uncertain significance | 11 | 118353212 | 118353212 | Human | 1 | name , trait |
| 11651635 | CV324613 | duplication | NM_000073.3(CD3G):c.*450dup | Immunodeficiency due to defect in CD3-gamma [RCV000300036]|not provided [RCV004692988] | uncertain significance | 11 | 118353524 | 118353525 | Human | 1 | name |
| 11617548 | CV324614 | single nucleotide variant | NM_000073.3(CD3G):c.*453G>T | Combined immunodeficiency due to CD3gamma deficiency [RCV000305705]|not provided [RCV004708189] | benign|likely benign | 11 | 118353553 | 118353553 | Human | 1 | name , trait |
| 11625901 | CV325348 | single nucleotide variant | NM_000073.3(CD3G):c.*308G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV000404601]|not provided [RCV004692987] | uncertain significance | 11 | 118353408 | 118353408 | Human | 1 | name , trait |
| 11644410 | CV325351 | deletion | NM_000073.3(CD3G):c.*451del | Immunodeficiency due to defect in CD3-gamma [RCV000259817] | uncertain significance | 11 | 118353551 | 118353551 | Human | 1 | name |
| 597675118 | CV3723699 | single nucleotide variant | NM_000073.3(CD3G):c.55+1G>T | Combined immunodeficiency due to CD3gamma deficiency [RCV005044410] | likely pathogenic | 11 | 118344479 | 118344479 | Human | 1 | name , trait |
| 597722450 | CV3723700 | single nucleotide variant | NM_000073.3(CD3G):c.56-1G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV005050020] | likely pathogenic | 11 | 118349026 | 118349026 | Human | 1 | name , trait |
| 597841194 | CV3825473 | single nucleotide variant | NM_000073.3(CD3G):c.80-6T>C | Combined immunodeficiency due to CD3gamma deficiency [RCV005172156] | likely benign | 11 | 118349737 | 118349737 | Human | 1 | name , trait |
| 15112970 | CV787621 | single nucleotide variant | NM_000073.3(CD3G):c.56-5T>C | Combined immunodeficiency due to CD3gamma deficiency [RCV000977933] | likely benign | 11 | 118349022 | 118349022 | Human | 1 | name , trait |
| 26897241 | CV852332 | single nucleotide variant | NM_000073.3(CD3G):c.79+4G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV001070205] | uncertain significance | 11 | 118349054 | 118349054 | Human | 1 | name , trait |
| 28907218 | CV867102 | single nucleotide variant | NM_000073.3(CD3G):c.*141G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV001107088] | uncertain significance | 11 | 118353241 | 118353241 | Human | 1 | name , trait |
| 28907220 | CV867103 | single nucleotide variant | NM_000073.3(CD3G):c.*216C>A | Combined immunodeficiency due to CD3gamma deficiency [RCV001107089] | uncertain significance | 11 | 118353316 | 118353316 | Human | 1 | name , trait |
| 28908315 | CV867104 | single nucleotide variant | NM_000073.3(CD3G):c.*253G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV001107755] | uncertain significance | 11 | 118353353 | 118353353 | Human | 1 | name , trait |
| 28908318 | CV867105 | single nucleotide variant | NM_000073.3(CD3G):c.*363C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV001107756] | uncertain significance | 11 | 118353463 | 118353463 | Human | 1 | name , trait |
| 28908320 | CV867106 | single nucleotide variant | NM_000073.3(CD3G):c.*426T>G | Combined immunodeficiency due to CD3gamma deficiency [RCV001107757] | uncertain significance | 11 | 118353526 | 118353526 | Human | 1 | name , trait |
| 28908323 | CV867107 | single nucleotide variant | NM_000073.3(CD3G):c.*551C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV001107758] | uncertain significance | 11 | 118353651 | 118353651 | Human | 1 | name , trait |
| 28901136 | CV867108 | single nucleotide variant | NM_000073.3(CD3G):c.*617G>T | Combined immunodeficiency due to CD3gamma deficiency [RCV001104109] | uncertain significance | 11 | 118353717 | 118353717 | Human | 1 | name , trait |
| 28901138 | CV867109 | single nucleotide variant | NM_000073.3(CD3G):c.*650C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV001104110] | uncertain significance | 11 | 118353750 | 118353750 | Human | 1 | name , trait |
| 126910746 | CV1047062 | single nucleotide variant | NM_000073.3(CD3G):c.308-9T>G | Combined immunodeficiency due to CD3gamma deficiency [RCV001368916] | likely benign|uncertain significance | 11 | 118350543 | 118350543 | Human | 1 | name , trait |
| 127262910 | CV1099542 | single nucleotide variant | NM_000073.3(CD3G):c.55+16G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV001428451] | likely benign | 11 | 118344494 | 118344494 | Human | 1 | name , trait |
| 127328527 | CV1121099 | single nucleotide variant | NM_000073.3(CD3G):c.484-4C>G | Combined immunodeficiency due to CD3gamma deficiency [RCV001469585] | likely benign | 11 | 118352400 | 118352400 | Human | 1 | name , trait |
| 152110231 | CV1530189 | deletion | NM_000073.3(CD3G):c.440-7del | Combined immunodeficiency due to CD3gamma deficiency [RCV002196670] | benign | 11 | 118351616 | 118351616 | Human | 1 | name , trait |
| 152112901 | CV1539371 | single nucleotide variant | NM_000073.3(CD3G):c.56-17C>A | Combined immunodeficiency due to CD3gamma deficiency [RCV002080493] | likely benign | 11 | 118349010 | 118349010 | Human | 1 | name , trait |
| 152060974 | CV1540924 | single nucleotide variant | NM_000073.3(CD3G):c.56-17C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV002190518] | likely benign | 11 | 118349010 | 118349010 | Human | 1 | name , trait |
| 152116334 | CV1553414 | single nucleotide variant | NM_000073.3(CD3G):c.484-4C>A | Combined immunodeficiency due to CD3gamma deficiency [RCV002080942] | likely benign | 11 | 118352400 | 118352400 | Human | 1 | name , trait |
| 152049079 | CV1585486 | single nucleotide variant | NM_000073.3(CD3G):c.80-18C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV002145445] | likely benign | 11 | 118349725 | 118349725 | Human | 1 | name , trait |
| 152064497 | CV1606880 | single nucleotide variant | NM_000073.3(CD3G):c.55+14A>G | Combined immunodeficiency due to CD3gamma deficiency [RCV002209129] | likely benign | 11 | 118344492 | 118344492 | Human | 1 | name , trait |
| 152104939 | CV1614592 | single nucleotide variant | NM_000073.3(CD3G):c.80-17G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV002079475] | likely benign | 11 | 118349726 | 118349726 | Human | 1 | name , trait |
| 155266344 | CV1699788 | single nucleotide variant | NM_000073.3(CD3G):c.484-1G>A | Severe combined immunodeficiency disease [RCV002281890] | likely pathogenic | 11 | 118352403 | 118352403 | Human | 2 | name |
| 156048558 | CV1927223 | single nucleotide variant | NM_000073.3(CD3G):c.80-18C>A | Combined immunodeficiency due to CD3gamma deficiency [RCV002637852] | likely benign | 11 | 118349725 | 118349725 | Human | 1 | name , trait |
| 156440337 | CV1946702 | single nucleotide variant | NM_000073.3(CD3G):c.80-19A>G | Combined immunodeficiency due to CD3gamma deficiency [RCV003110369] | likely benign | 11 | 118349724 | 118349724 | Human | 1 | name , trait |
| 156205373 | CV1959248 | single nucleotide variant | NM_000073.3(CD3G):c.307+9T>A | Combined immunodeficiency due to CD3gamma deficiency [RCV002574937] | likely benign | 11 | 118349979 | 118349979 | Human | 1 | name , trait |
| 156125978 | CV2088375 | single nucleotide variant | NM_000073.3(CD3G):c.55+11A>G | Combined immunodeficiency due to CD3gamma deficiency [RCV002871451] | likely benign | 11 | 118344489 | 118344489 | Human | 1 | name , trait |
| 156113117 | CV2088376 | single nucleotide variant | NM_000073.3(CD3G):c.55+12C>G | Combined immunodeficiency due to CD3gamma deficiency [RCV002889268] | likely benign | 11 | 118344490 | 118344490 | Human | 1 | name , trait |
| 156126005 | CV2088377 | single nucleotide variant | NM_000073.3(CD3G):c.55+15G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV002871452] | likely benign | 11 | 118344493 | 118344493 | Human | 1 | name , trait |
| 156113134 | CV2088378 | single nucleotide variant | NM_000073.3(CD3G):c.55+19T>C | Combined immunodeficiency due to CD3gamma deficiency [RCV002889269] | likely benign | 11 | 118344497 | 118344497 | Human | 1 | name , trait |
| 401909777 | CV2809891 | single nucleotide variant | NM_000073.3(CD3G):c.79+45C>T | not provided [RCV003398157] | likely benign | 11 | 118349095 | 118349095 | Human | | name |
| 405084405 | CV2986373 | single nucleotide variant | NM_000073.3(CD3G):c.80-10C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV003744232] | likely benign | 11 | 118349733 | 118349733 | Human | 1 | name , trait |
| 11624126 | CV325336 | single nucleotide variant | NM_000073.3(CD3G):c.308-4A>G | Combined immunodeficiency due to CD3gamma deficiency [RCV000381948] | uncertain significance | 11 | 118350548 | 118350548 | Human | 1 | name , trait |
| 597862025 | CV3745150 | single nucleotide variant | NM_000073.3(CD3G):c.307+8A>G | Combined immunodeficiency due to CD3gamma deficiency [RCV005067506] | likely benign | 11 | 118349978 | 118349978 | Human | 1 | name , trait |
| 597915317 | CV3851136 | single nucleotide variant | NM_000073.3(CD3G):c.439+8A>C | Combined immunodeficiency due to CD3gamma deficiency [RCV005204104] | likely benign | 11 | 118350691 | 118350691 | Human | 1 | name , trait |
| 597920158 | CV3851976 | single nucleotide variant | NM_000073.3(CD3G):c.483+7G>T | Combined immunodeficiency due to CD3gamma deficiency [RCV005204956] | likely benign | 11 | 118351678 | 118351678 | Human | 1 | name , trait |
| 13504020 | CV460902 | single nucleotide variant | NM_000073.3(CD3G):c.79+10A>G | Combined immunodeficiency due to CD3gamma deficiency [RCV000551445] | benign|conflicting interpretations of pathogenicity | 11 | 118349060 | 118349060 | Human | 1 | name , trait |
| 127310056 | CV1156582 | single nucleotide variant | NM_000073.3(CD3G):c.439+11G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV001518123] | benign | 11 | 118350694 | 118350694 | Human | 1 | name , trait |
| 152118922 | CV1600745 | single nucleotide variant | NM_000073.3(CD3G):c.308-13C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV002154004] | likely benign | 11 | 118350539 | 118350539 | Human | 1 | name , trait |
| 152146849 | CV1615472 | single nucleotide variant | NM_000073.3(CD3G):c.307+18G>A | Combined immunodeficiency due to CD3gamma deficiency [RCV002101607] | likely benign | 11 | 118349988 | 118349988 | Human | 1 | name , trait |
| 152111274 | CV1640364 | single nucleotide variant | NM_000073.3(CD3G):c.308-10T>G | Combined immunodeficiency due to CD3gamma deficiency [RCV002174364] | likely benign | 11 | 118350542 | 118350542 | Human | 1 | name , trait |
| 156305707 | CV2066910 | single nucleotide variant | NM_000073.3(CD3G):c.484-13C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV002833845] | likely benign | 11 | 118352391 | 118352391 | Human | 1 | name , trait |
| 405096274 | CV2857964 | single nucleotide variant | NM_000073.3(CD3G):c.484-17T>A | Combined immunodeficiency due to CD3gamma deficiency [RCV003583254] | likely benign | 11 | 118352387 | 118352387 | Human | 1 | name , trait |
| 11607651 | CV318500 | single nucleotide variant | NM_000073.3(CD3G):c.307+13C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV002056174]|Immunodeficiency due to defect in CD3-gamma [RCV000345972] | likely benign|uncertain significance | 11 | 118349983 | 118349983 | Human | 1 | name , trait |
| 597937206 | CV3862660 | single nucleotide variant | NM_000073.3(CD3G):c.484-17T>G | Combined immunodeficiency due to CD3gamma deficiency [RCV005207932] | likely benign | 11 | 118352387 | 118352387 | Human | 1 | name , trait |
| 13463137 | CV438633 | single nucleotide variant | NM_000073.3(CD3G):c.439+12C>T | Combined immunodeficiency due to CD3gamma deficiency [RCV002060184]|not provided [RCV000513970] | likely benign|uncertain significance | 11 | 118350695 | 118350695 | Human | 1 | name , trait |
| 156368008 | CV2021063 | deletion | NM_000073.3(CD3G):c.70_79+5del | Combined immunodeficiency due to CD3gamma deficiency [RCV002721314] | likely pathogenic | 11 | 118349040 | 118349054 | Human | 1 | name , trait |
| 11665365 | CV312525 | microsatellite | NM_000073.3(CD3G):c.-62GCTG[4] | Immunodeficiency due to defect in CD3-gamma [RCV000267460]|Severe combined immunodeficiency disease [RCV001731579] | benign|likely benign | 11 | 118344361 | 118344364 | Human | | name |
| 156061925 | CV2008297 | single nucleotide variant | NM_000073.3(CD3G):c.12G>A (p.Gly4=) | Combined immunodeficiency due to CD3gamma deficiency [RCV002705415] | likely benign | 11 | 118344435 | 118344435 | Human | 1 | name , trait |
| 38488482 | CV940989 | deletion | NM_000073.3(CD3G):c.308-13_308-6del | Combined immunodeficiency due to CD3gamma deficiency [RCV001221250] | likely benign|uncertain significance | 11 | 118350538 | 118350545 | Human | 1 | name , trait |
| 127250572 | CV1099543 | single nucleotide variant | NM_000073.3(CD3G):c.72A>C (p.Ser24=) | Combined immunodeficiency due to CD3gamma deficiency [RCV001436384] | likely benign | 11 | 118349043 | 118349043 | Human | 1 | name , trait |
| 127278625 | CV1099544 | single nucleotide variant | NM_000073.3(CD3G):c.72A>T (p.Ser24=) | Combined immunodeficiency due to CD3gamma deficiency [RCV001445181] | likely benign | 11 | 118349043 | 118349043 | Human | 1 | name , trait |
| 127303515 | CV1141934 | single nucleotide variant | NM_000073.3(CD3G):c.69G>A (p.Gln23=) | Combined immunodeficiency due to CD3gamma deficiency [RCV001499418] | likely benign | 11 | 118349040 | 118349040 | Human | 1 | name , trait |
| 152065832 | CV1601531 | deletion | NM_000073.3(CD3G):c.440-19_440-18del | Combined immunodeficiency due to CD3gamma deficiency [RCV002168641] | likely benign | 11 | 118351608 | 118351609 | Human | 1 | name , trait |
| 8574286 | CV27792 | single nucleotide variant | NM_000073.3(CD3G):c.1A>G (p.Met1Val) | Combined immunodeficiency due to CD3gamma deficiency [RCV000087021] | pathogenic|likely pathogenic | 11 | 118344424 | 118344424 | Human | 1 | name , trait |
| 597895047 | CV3781836 | single nucleotide variant | NM_000073.3(CD3G):c.2T>A (p.Met1Lys) | Combined immunodeficiency due to CD3gamma deficiency [RCV005126264] | likely pathogenic | 11 | 118344425 | 118344425 | Human | 1 | name , trait |
| 14739424 | CV639749 | single nucleotide variant | NM_000073.3(CD3G):c.36G>A (p.Leu12=) | Combined immunodeficiency due to CD3gamma deficiency [RCV000804936]|not provided [RCV002067394] | likely benign|uncertain significance | 11 | 118344459 | 118344459 | Human | 1 | name , trait |
| 127296644 | CV1121098 | single nucleotide variant | NM_000073.3(CD3G):c.189C>T (p.Gly63=) | Combined immunodeficiency due to CD3gamma deficiency [RCV001477419] | likely benign | 11 | 118349852 | 118349852 | Human | 1 | name , trait |
| 127287304 | CV1141935 | single nucleotide variant | NM_000073.3(CD3G):c.114A>G (p.Glu38=) | Combined immunodeficiency due to CD3gamma deficiency [RCV001494852] | likely benign | 11 | 118349777 | 118349777 | Human | 1 | name , trait |
| 151791106 | CV1357501 | single nucleotide variant | NM_000073.3(CD3G):c.16G>C (p.Gly6Arg) | Combined immunodeficiency due to CD3gamma deficiency [RCV001904360] | uncertain significance | 11 | 118344439 | 118344439 | Human | 1 | name , trait |
| 152136891 | CV1537882 | single nucleotide variant | NM_000073.3(CD3G):c.123G>A (p.Ser41=) | Combined immunodeficiency due to CD3gamma deficiency [RCV002177540] | likely benign | 11 | 118349786 | 118349786 | Human | 1 | name , trait |
| 152088873 | CV1539875 | single nucleotide variant | NM_000073.3(CD3G):c.231T>C (p.Asn77=) | Combined immunodeficiency due to CD3gamma deficiency [RCV002131793] | likely benign | 11 | 118349894 | 118349894 | Human | 1 | name , trait |
| 156045681 | CV1868691 | single nucleotide variant | NM_000073.3(CD3G):c.162A>G (p.Thr54=) | Combined immunodeficiency due to CD3gamma deficiency [RCV003052816] | likely benign | 11 | 118349825 | 118349825 | Human | 1 | name , trait |
| 156413754 | CV1905439 | single nucleotide variant | NM_000073.3(CD3G):c.111A>G (p.Gln37=) | Combined immunodeficiency due to CD3gamma deficiency [RCV003073430] | likely benign | 11 | 118349774 | 118349774 | Human | 1 | name , trait |
| 156218863 | CV1995619 | single nucleotide variant | NM_000073.3(CD3G):c.162A>C (p.Thr54=) | Combined immunodeficiency due to CD3gamma deficiency [RCV002667147] | likely benign | 11 | 118349825 | 118349825 | Human | 1 | name , trait |
| 156070785 | CV2032656 | single nucleotide variant | NM_000073.3(CD3G):c.192C>T (p.Phe64=) | Combined immunodeficiency due to CD3gamma deficiency [RCV002760313] | likely benign | 11 | 118349855 | 118349855 | Human | 1 | name , trait |
| 156161741 | CV2135384 | single nucleotide variant | NM_000073.3(CD3G):c.193C>T (p.Leu65=) | Combined immunodeficiency due to CD3gamma deficiency [RCV002983031] | likely benign | 11 | 118349856 | 118349856 | Human | 1 | name , trait |
| 405095496 | CV2856199 | single nucleotide variant | NM_000073.3(CD3G):c.282A>G (p.Ser94=) | Combined immunodeficiency due to CD3gamma deficiency [RCV003583309] | likely benign | 11 | 118349945 | 118349945 | Human | 1 | name , trait |
| 405087791 | CV3015388 | single nucleotide variant | NM_000073.3(CD3G):c.174T>C (p.Asp58=) | Combined immunodeficiency due to CD3gamma deficiency [RCV003744518] | likely benign | 11 | 118349837 | 118349837 | Human | 1 | name , trait |
| 15121163 | CV783876 | single nucleotide variant | NM_000073.3(CD3G):c.219T>C (p.Asn73=) | Combined immunodeficiency due to CD3gamma deficiency [RCV001439132] | likely benign | 11 | 118349882 | 118349882 | Human | 1 | name , trait |
| 28901627 | CV867100 | single nucleotide variant | NM_000073.3(CD3G):c.243T>C (p.Pro81=) | Combined immunodeficiency due to CD3gamma deficiency [RCV001104327] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 118349906 | 118349906 | Human | 1 | name , trait |
| 38491421 | CV926138 | single nucleotide variant | NM_000073.3(CD3G):c.11G>T (p.Gly4Val) | Combined immunodeficiency due to CD3gamma deficiency [RCV001222825] | uncertain significance | 11 | 118344434 | 118344434 | Human | 1 | name , trait |
| 38491556 | CV956401 | single nucleotide variant | NM_000073.3(CD3G):c.13A>T (p.Lys5Ter) | Combined immunodeficiency due to CD3gamma deficiency [RCV001239548] | pathogenic | 11 | 118344436 | 118344436 | Human | 1 | name , trait |
| 126917782 | CV1047060 | single nucleotide variant | NM_000073.3(CD3G):c.38C>T (p.Ala13Val) | Combined immunodeficiency due to CD3gamma deficiency [RCV001372272] | uncertain significance | 11 | 118344461 | 118344461 | Human | 1 | name , trait |
| 127271929 | CV1099545 | single nucleotide variant | NM_000073.3(CD3G):c.393T>C (p.Val131=) | Combined immunodeficiency due to CD3gamma deficiency [RCV001441994] | likely benign | 11 | 118350637 | 118350637 | Human | 1 | name , trait |
| 151787843 | CV1341688 | single nucleotide variant | NM_000073.3(CD3G):c.41T>A (p.Ile14Asn) | Combined immunodeficiency due to CD3gamma deficiency [RCV001897135] | uncertain significance | 11 | 118344464 | 118344464 | Human | 1 | name , trait |
| 151709712 | CV1364038 | single nucleotide variant | NM_000073.3(CD3G):c.71C>G (p.Ser24Ter) | Combined immunodeficiency due to CD3gamma deficiency [RCV001994521] | pathogenic | 11 | 118349042 | 118349042 | Human | 1 | name , trait |
| 152148936 | CV1552042 | single nucleotide variant | NM_000073.3(CD3G):c.381C>T (p.Phe127=) | Combined immunodeficiency due to CD3gamma deficiency [RCV002157870] | likely benign | 11 | 118350625 | 118350625 | Human | 1 | name , trait |
| 155986807 | CV2153925 | single nucleotide variant | NM_000073.3(CD3G):c.98T>C (p.Val33Ala) | Combined immunodeficiency due to CD3gamma deficiency [RCV003016632] | uncertain significance | 11 | 118349761 | 118349761 | Human | 1 | name , trait |
| 11610056 | CV312540 | single nucleotide variant | NM_000073.3(CD3G):c.32T>C (p.Ile11Thr) | Combined immunodeficiency due to CD3gamma deficiency [RCV000376087] | uncertain significance | 11 | 118344455 | 118344455 | Human | 1 | name , trait |
| 11602131 | CV312548 | single nucleotide variant | NM_000073.3(CD3G):c.390T>C (p.Ala130=) | Combined immunodeficiency due to CD3gamma deficiency [RCV000288417]|not provided [RCV004708187]|not specified [RCV000454974] | benign|likely benign | 11 | 118350634 | 118350634 | Human | 1 | name , trait |
| 597836731 | CV3739888 | single nucleotide variant | NM_000073.3(CD3G):c.450G>A (p.Lys150=) | Combined immunodeficiency due to CD3gamma deficiency [RCV005064108] | likely benign | 11 | 118351638 | 118351638 | Human | 1 | name , trait |
| 597885989 | CV3842259 | single nucleotide variant | NM_000073.3(CD3G):c.429C>G (p.Arg143=) | Combined immunodeficiency due to CD3gamma deficiency [RCV005178894] | likely benign | 11 | 118350673 | 118350673 | Human | 1 | name , trait |
| 13491528 | CV461237 | single nucleotide variant | NM_000073.3(CD3G):c.64G>A (p.Ala22Thr) | Combined immunodeficiency due to CD3gamma deficiency [RCV000534288]|not provided [RCV004708948] | benign | 11 | 118349035 | 118349035 | Human | 1 | name , trait |
| 13624192 | CV525954 | deletion | NM_000073.3(CD3G):c.213del (p.Lys71fs) | Combined immunodeficiency due to CD3gamma deficiency [RCV000651962]|Severe combined immunodeficiency disease [RCV002282292] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 11 | 118349868 | 118349868 | Human | 3 | name , trait |
| 13624194 | CV526091 | single nucleotide variant | NM_000073.3(CD3G):c.56G>A (p.Gly19Asp) | CD3G-related disorder [RCV003983158]|Combined immunodeficiency due to CD3gamma deficiency [RCV000651964]|not provided [RCV001091036] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 118349027 | 118349027 | Human | 1 | name , trait , alternate_id |
| 13624193 | CV526094 | single nucleotide variant | NM_000073.3(CD3G):c.496C>A (p.Arg166=) | Combined immunodeficiency due to CD3gamma deficiency [RCV000651963] | benign|conflicting interpretations of pathogenicity | 11 | 118352416 | 118352416 | Human | 1 | name , trait |
| 13813157 | CV564450 | duplication | NM_000073.3(CD3G):c.213dup (p.Trp72fs) | Combined immunodeficiency due to CD3gamma deficiency [RCV000704172]|Severe combined immunodeficiency disease [RCV002271572] | pathogenic|likely pathogenic | 11 | 118349867 | 118349868 | Human | 3 | name , trait |
| 13813795 | CV567054 | single nucleotide variant | NM_000073.3(CD3G):c.33C>G (p.Ile11Met) | Combined immunodeficiency due to CD3gamma deficiency [RCV000704598] | uncertain significance | 11 | 118344456 | 118344456 | Human | 1 | name , trait |
| 14721126 | CV639750 | single nucleotide variant | NM_000073.3(CD3G):c.40A>G (p.Ile14Val) | CD3G-related disorder [RCV003396387]|Combined immunodeficiency due to CD3gamma deficiency [RCV000796961] | uncertain significance | 11 | 118344463 | 118344463 | Human | 1 | name , trait , alternate_id |
| 15194007 | CV768230 | single nucleotide variant | NM_000073.3(CD3G):c.417G>A (p.Gln139=) | not provided [RCV000933520] | likely benign | 11 | 118350661 | 118350661 | Human | | name |
| 26896577 | CV838038 | single nucleotide variant | NM_000073.3(CD3G):c.37G>A (p.Ala13Thr) | Combined immunodeficiency due to CD3gamma deficiency [RCV001048213] | uncertain significance | 11 | 118344460 | 118344460 | Human | 1 | name , trait |
| 126918380 | CV1047061 | single nucleotide variant | NM_000073.3(CD3G):c.152A>G (p.Lys51Arg) | Combined immunodeficiency due to CD3gamma deficiency [RCV001361689] | uncertain significance | 11 | 118349815 | 118349815 | Human | 1 | name , trait |
| 127236509 | CV1062243 | single nucleotide variant | NM_000073.3(CD3G):c.178A>T (p.Lys60Ter) | Combined immunodeficiency due to CD3gamma deficiency [RCV001382623] | pathogenic | 11 | 118349841 | 118349841 | Human | 1 | name , trait |
| 8646972 | CV106498 | single nucleotide variant | NM_000073.3(CD3G):c.205A>T (p.Lys69Ter) | Combined immunodeficiency due to CD3gamma deficiency [RCV000087023]|not provided [RCV001701750] | pathogenic|likely pathogenic | 11 | 118349868 | 118349868 | Human | 1 | name , trait |
| 151717372 | CV1337094 | single nucleotide variant | NM_000073.3(CD3G):c.294A>T (p.Gln98His) | Combined immunodeficiency due to CD3gamma deficiency [RCV002026025]|not specified [RCV005308677] | uncertain significance | 11 | 118349957 | 118349957 | Human | 1 | name , trait |
| 151800504 | CV1352872 | single nucleotide variant | NM_000073.3(CD3G):c.259T>C (p.Cys87Arg) | Combined immunodeficiency due to CD3gamma deficiency [RCV001922387] | uncertain significance | 11 | 118349922 | 118349922 | Human | 1 | name , trait |
| 151823593 | CV1391373 | single nucleotide variant | NM_000073.3(CD3G):c.122C>G (p.Ser41Trp) | Combined immunodeficiency due to CD3gamma deficiency [RCV001969545] | uncertain significance | 11 | 118349785 | 118349785 | Human | 1 | name , trait |
| 151811331 | CV1398806 | single nucleotide variant | NM_000073.3(CD3G):c.161C>T (p.Thr54Ile) | Combined immunodeficiency due to CD3gamma deficiency [RCV001942799] | uncertain significance | 11 | 118349824 | 118349824 | Human | 1 | name , trait |
| 151825046 | CV1422263 | single nucleotide variant | NM_000073.3(CD3G):c.163T>A (p.Trp55Arg) | Combined immunodeficiency due to CD3gamma deficiency [RCV001972194] | uncertain significance | 11 | 118349826 | 118349826 | Human | 1 | name , trait |
| 151770411 | CV1434190 | deletion | NM_000073.3(CD3G):c.368del (p.Ile123fs) | Combined immunodeficiency due to CD3gamma deficiency [RCV001866508] | uncertain significance | 11 | 118350612 | 118350612 | Human | 1 | name , trait |
| 151712791 | CV1471732 | single nucleotide variant | NM_000073.3(CD3G):c.101A>G (p.Tyr34Cys) | Combined immunodeficiency due to CD3gamma deficiency [RCV002008624] | uncertain significance | 11 | 118349764 | 118349764 | Human | 1 | name , trait |
| 151776208 | CV1474307 | single nucleotide variant | NM_000073.3(CD3G):c.245G>A (p.Arg82Gln) | Combined immunodeficiency due to CD3gamma deficiency [RCV001875607] | uncertain significance | 11 | 118349908 | 118349908 | Human | 1 | name , trait |
| 153305378 | CV1688483 | single nucleotide variant | NM_000073.3(CD3G):c.271C>T (p.Gln91Ter) | Severe combined immunodeficiency disease [RCV002266218] | likely pathogenic | 11 | 118349934 | 118349934 | Human | 2 | name |
| 156235565 | CV1976848 | single nucleotide variant | NM_000073.3(CD3G):c.214T>A (p.Trp72Arg) | Combined immunodeficiency due to CD3gamma deficiency [RCV002596966] | uncertain significance | 11 | 118349877 | 118349877 | Human | 1 | name , trait |
| 156353911 | CV1994894 | single nucleotide variant | NM_000073.3(CD3G):c.245G>C (p.Arg82Pro) | Combined immunodeficiency due to CD3gamma deficiency [RCV002675785] | uncertain significance | 11 | 118349908 | 118349908 | Human | 1 | name , trait |
| 156001365 | CV2057450 | single nucleotide variant | NM_000073.3(CD3G):c.168T>G (p.Phe56Leu) | Combined immunodeficiency due to CD3gamma deficiency [RCV002819666] | uncertain significance | 11 | 118349831 | 118349831 | Human | 1 | name , trait |
| 156019749 | CV2058870 | single nucleotide variant | NM_000073.3(CD3G):c.174T>A (p.Asp58Glu) | Combined immunodeficiency due to CD3gamma deficiency [RCV002820557] | uncertain significance | 11 | 118349837 | 118349837 | Human | 1 | name , trait |
| 156330559 | CV2171738 | single nucleotide variant | NM_000073.3(CD3G):c.136T>C (p.Cys46Arg) | Combined immunodeficiency due to CD3gamma deficiency [RCV003029745] | uncertain significance | 11 | 118349799 | 118349799 | Human | 1 | name , trait |
| 401892107 | CV2777236 | single nucleotide variant | NM_000073.3(CD3G):c.199G>A (p.Glu67Lys) | not specified [RCV004354266] | uncertain significance | 11 | 118349862 | 118349862 | Human | | name |
| 405086028 | CV2998738 | single nucleotide variant | NM_000073.3(CD3G):c.109C>T (p.Gln37Ter) | Combined immunodeficiency due to CD3gamma deficiency [RCV003744359] | pathogenic | 11 | 118349772 | 118349772 | Human | 1 | name , trait |
| 11602464 | CV312541 | single nucleotide variant | NM_000073.3(CD3G):c.158T>C (p.Ile53Thr) | CD3G-related disorder [RCV003940143]|Combined immunodeficiency due to CD3gamma deficiency [RCV000651965]|not provided [RCV001091037] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 118349821 | 118349821 | Human | 1 | name , trait , alternate_id |
| 597778377 | CV3648409 | single nucleotide variant | NM_000073.3(CD3G):c.160A>G (p.Thr54Ala) | not specified [RCV004899028] | uncertain significance | 11 | 118349823 | 118349823 | Human | | name |
| 597956829 | CV3754580 | single nucleotide variant | NM_000073.3(CD3G):c.220C>G (p.Leu74Val) | Combined immunodeficiency due to CD3gamma deficiency [RCV005080430] | uncertain significance | 11 | 118349883 | 118349883 | Human | 1 | name , trait |
| 13624191 | CV525953 | single nucleotide variant | NM_000073.3(CD3G):c.170A>C (p.Lys57Thr) | Combined immunodeficiency due to CD3gamma deficiency [RCV000651961] | uncertain significance | 11 | 118349833 | 118349833 | Human | 1 | name , trait |
| 13819417 | CV565528 | single nucleotide variant | NM_000073.3(CD3G):c.187G>A (p.Gly63Ser) | Combined immunodeficiency due to CD3gamma deficiency [RCV000694313]|not specified [RCV004025189] | likely benign|uncertain significance | 11 | 118349850 | 118349850 | Human | 1 | name , trait |
| 14734986 | CV639751 | single nucleotide variant | NM_000073.3(CD3G):c.122C>T (p.Ser41Leu) | Combined immunodeficiency due to CD3gamma deficiency [RCV000819383] | uncertain significance | 11 | 118349785 | 118349785 | Human | 1 | name , trait |
| 14736184 | CV639752 | single nucleotide variant | NM_000073.3(CD3G):c.128T>C (p.Leu43Pro) | Combined immunodeficiency due to CD3gamma deficiency [RCV000803506] | uncertain significance | 11 | 118349791 | 118349791 | Human | 1 | name , trait |
| 14712200 | CV639753 | single nucleotide variant | NM_000073.3(CD3G):c.273G>C (p.Gln91His) | Combined immunodeficiency due to CD3gamma deficiency [RCV000793727]|not specified [RCV004027453] | uncertain significance | 11 | 118349936 | 118349936 | Human | 1 | name , trait |
| 38479468 | CV935406 | single nucleotide variant | NM_000073.3(CD3G):c.223G>A (p.Gly75Arg) | Combined immunodeficiency due to CD3gamma deficiency [RCV001205989]|not specified [RCV005306305] | uncertain significance | 11 | 118349886 | 118349886 | Human | 1 | name , trait |
| 126923362 | CV1047064 | single nucleotide variant | NM_000073.3(CD3G):c.521T>C (p.Leu174Pro) | Combined immunodeficiency due to CD3gamma deficiency [RCV001365756] | uncertain significance | 11 | 118352441 | 118352441 | Human | 1 | name , trait |
| 151833181 | CV1342748 | single nucleotide variant | NM_000073.3(CD3G):c.338C>T (p.Ala113Val) | Combined immunodeficiency due to CD3gamma deficiency [RCV001988845] | uncertain significance | 11 | 118350582 | 118350582 | Human | 1 | name , trait |
| 151798336 | CV1365822 | single nucleotide variant | NM_000073.3(CD3G):c.529A>G (p.Asn177Asp) | Combined immunodeficiency due to CD3gamma deficiency [RCV001917692] | uncertain significance | 11 | 118352449 | 118352449 | Human | 1 | name , trait |
| 151830480 | CV1419826 | single nucleotide variant | NM_000073.3(CD3G):c.466A>C (p.Asn156His) | Combined immunodeficiency due to CD3gamma deficiency [RCV001983221] | uncertain significance | 11 | 118351654 | 118351654 | Human | 1 | name , trait |
| 151788025 | CV1434728 | single nucleotide variant | NM_000073.3(CD3G):c.458T>C (p.Leu153Pro) | Combined immunodeficiency due to CD3gamma deficiency [RCV001897569] | uncertain significance | 11 | 118351646 | 118351646 | Human | 1 | name , trait |
| 151814031 | CV1467527 | single nucleotide variant | NM_000073.3(CD3G):c.497G>A (p.Arg166Gln) | Combined immunodeficiency due to CD3gamma deficiency [RCV001948452] | uncertain significance | 11 | 118352417 | 118352417 | Human | 1 | name , trait |
| 151817386 | CV1471523 | single nucleotide variant | NM_000073.3(CD3G):c.496C>T (p.Arg166Ter) | Combined immunodeficiency due to CD3gamma deficiency [RCV001956130] | pathogenic | 11 | 118352416 | 118352416 | Human | 1 | name , trait |
| 151829438 | CV1516857 | single nucleotide variant | NM_000073.3(CD3G):c.484C>A (p.Pro162Thr) | Combined immunodeficiency due to CD3gamma deficiency [RCV001981176] | uncertain significance | 11 | 118352404 | 118352404 | Human | 1 | name , trait |
| 153305377 | CV1688482 | single nucleotide variant | NM_000073.3(CD3G):c.431A>G (p.Gln144Arg) | not specified [RCV002266217] | uncertain significance | 11 | 118350675 | 118350675 | Human | | name |
| 156344101 | CV1907573 | single nucleotide variant | NM_000073.3(CD3G):c.364G>A (p.Glu122Lys) | Combined immunodeficiency due to CD3gamma deficiency [RCV003090535] | uncertain significance | 11 | 118350608 | 118350608 | Human | 1 | name , trait |
| 156258020 | CV2056948 | single nucleotide variant | NM_000073.3(CD3G):c.338C>G (p.Ala113Gly) | Combined immunodeficiency due to CD3gamma deficiency [RCV002791918] | uncertain significance | 11 | 118350582 | 118350582 | Human | 1 | name , trait |
| 156302159 | CV2105010 | single nucleotide variant | NM_000073.3(CD3G):c.513C>G (p.Tyr171Ter) | Combined immunodeficiency due to CD3gamma deficiency [RCV002922630] | pathogenic | 11 | 118352433 | 118352433 | Human | 1 | name , trait |
| 156207725 | CV2160252 | single nucleotide variant | NM_000073.3(CD3G):c.386T>G (p.Leu129Arg) | Combined immunodeficiency due to CD3gamma deficiency [RCV003042214] | uncertain significance | 11 | 118350630 | 118350630 | Human | 1 | name , trait |
| 156157217 | CV2322555 | single nucleotide variant | NM_000073.3(CD3G):c.334G>A (p.Ala112Thr) | not specified [RCV004182712] | uncertain significance | 11 | 118350578 | 118350578 | Human | | name |
| 401880017 | CV2783066 | single nucleotide variant | NM_000073.3(CD3G):c.515G>T (p.Ser172Ile) | not specified [RCV004363429] | uncertain significance | 11 | 118352435 | 118352435 | Human | | name |
| 11625970 | CV324602 | single nucleotide variant | NM_000073.3(CD3G):c.511T>C (p.Tyr171His) | Combined immunodeficiency due to CD3gamma deficiency [RCV000921146] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 118352431 | 118352431 | Human | 1 | name , trait |
| 11621826 | CV325344 | single nucleotide variant | NM_000073.3(CD3G):c.391G>T (p.Val131Phe) | Combined immunodeficiency due to CD3gamma deficiency [RCV000352643]|not provided [RCV004706799]|not specified [RCV000455537] | benign|likely benign | 11 | 118350635 | 118350635 | Human | 1 | name , trait |
| 405772027 | CV3299785 | single nucleotide variant | NM_000073.3(CD3G):c.409G>T (p.Ala137Ser) | not specified [RCV004435457] | uncertain significance | 11 | 118350653 | 118350653 | Human | | name |
| 598207439 | CV3950768 | single nucleotide variant | NM_000073.3(CD3G):c.455C>T (p.Thr152Ile) | not specified [RCV005315288] | uncertain significance | 11 | 118351643 | 118351643 | Human | | name |
| 14723664 | CV639754 | single nucleotide variant | NM_000073.3(CD3G):c.326A>G (p.Glu109Gly) | Combined immunodeficiency due to CD3gamma deficiency [RCV000798059] | uncertain significance | 11 | 118350570 | 118350570 | Human | 1 | name , trait |
| 26912281 | CV838039 | single nucleotide variant | NM_000073.3(CD3G):c.353T>C (p.Phe118Ser) | Combined immunodeficiency due to CD3gamma deficiency [RCV001053373] | uncertain significance | 11 | 118350597 | 118350597 | Human | 1 | name , trait |
| 28907215 | CV867101 | single nucleotide variant | NM_000073.3(CD3G):c.467A>G (p.Asn156Ser) | Combined immunodeficiency due to CD3gamma deficiency [RCV001107087] | uncertain significance | 11 | 118351655 | 118351655 | Human | 1 | name , trait |
| 126754193 | CV994341 | single nucleotide variant | NM_000073.3(CD3G):c.437G>C (p.Arg146Thr) | Combined immunodeficiency due to CD3gamma deficiency [RCV001307571] | uncertain significance | 11 | 118350681 | 118350681 | Human | 1 | name , trait |
| 156146556 | CV2052757 | microsatellite | NM_000073.3(CD3G):c.357_358del (p.Phe120fs) | Combined immunodeficiency due to CD3gamma deficiency [RCV002801149] | pathogenic | 11 | 118350598 | 118350599 | Human | | name , trait |
| 13493337 | CV460944 | indel | NM_000073.3(CD3G):c.390_391delinsCT (p.Val131Phe) | Combined immunodeficiency due to CD3gamma deficiency [RCV000558113] | benign | 11 | 118350634 | 118350635 | Human | | name , trait |
| 14734109 | CV639755 | indel | NM_000073.3(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe) | Combined immunodeficiency due to CD3gamma deficiency [RCV000818977]|not specified [RCV002282380] | uncertain significance | 11 | 118350633 | 118350635 | Human | | name , trait |
| 156116699 | CV2085070 | indel | NM_000073.3(CD3G):c.55+11_55+23delinsGGCTATCATTCTTCTTCAAGGTAAGGGCCTTC | Combined immunodeficiency due to CD3gamma deficiency [RCV002889398] | uncertain significance | 11 | 118344489 | 118344501 | Human | | name , trait |
| 151794368 | CV1496726 | duplication | NC_000011.9:g.(?_118209877)_(118219785_?)dup | Combined immunodeficiency due to CD3gamma deficiency [RCV001910219] | uncertain significance | | | | Human | 1 | trait |
| 243051976 | CV2405139 | deletion | NM_000073.3:c.70_80del | Combined immunodeficiency due to CD3gamma deficiency [RCV003142271] | likely pathogenic | | | | Human | 1 | trait |
| 8646971 | CV27793 | deletion | NC_000011.10:g.118349744_118349760del | Combined immunodeficiency due to CD3gamma deficiency [RCV000087022] | pathogenic | 11 | 118349741 | 118349757 | Human | 1 | trait |
| 156439265 | CV1942338 | duplication | NC_000011.9:g.(?_116691583)_(121500272_?)dup | Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] | uncertain significance | | | | Human | 7 | trait |
| 26890488 | CV820428 | deletion | NC_000011.9:g.(?_117856768)_(118972385_?)del | Combined immunodeficiency due to CD3gamma deficiency [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28 [RCV001386823] | pathogenic | | | | Human | 5 | trait |
| 126727086 | CV986459 | duplication | NC_000011.9:g.(?_117856768)_(118972385_?)dup | Combined immunodeficiency due to CD3gamma deficiency [RCV001313154]|Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28 [RCV001304384] | uncertain significance | | | | Human | 6 | trait |
