| 408392503 | CV3528155 | single nucleotide variant | NM_006372.5(SYNCRIP):c.-1C>A | not provided [RCV004775923] | uncertain significance | 6 | 85641440 | 85641440 | Human | | name |
| 598226357 | CV3894372 | single nucleotide variant | NM_006372.5(SYNCRIP):c.-43C>T | not provided [RCV005257615] | likely benign | 6 | 85642827 | 85642827 | Human | | name |
| 156037258 | CV2278821 | single nucleotide variant | NM_006372.5(SYNCRIP):c.15T>A (p.His5Gln) | Inborn genetic diseases [RCV002845814] | uncertain significance | 6 | 85641425 | 85641425 | Human | 1 | name |
| 156066427 | CV2381008 | single nucleotide variant | NM_006372.5(SYNCRIP):c.64A>G (p.Ile22Val) | Inborn genetic diseases [RCV002693722] | uncertain significance | 6 | 85641376 | 85641376 | Human | 1 | name |
| 42723677 | CV984577 | single nucleotide variant | NM_006372.5(SYNCRIP):c.47A>G (p.Asp16Gly) | See cases [RCV001291666] | uncertain significance | 6 | 85641393 | 85641393 | Human | | name |
| 155990531 | CV2280957 | single nucleotide variant | NM_006372.5(SYNCRIP):c.171A>T (p.Leu57Phe) | Inborn genetic diseases [RCV002882399] | uncertain significance | 6 | 85640542 | 85640542 | Human | 1 | name |
| 401798414 | CV2741510 | duplication | NM_006372.5(SYNCRIP):c.438dup (p.Pro147fs) | SYNCRIP-associated neurodevelopmental disorder [RCV003322729] | likely pathogenic | 6 | 85637293 | 85637294 | Human | | name , trait |
| 401915836 | CV2820522 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1554C>T (p.Arg518=) | SYNCRIP-related disorder [RCV003946607]|not provided [RCV003428882] | benign | 6 | 85615074 | 85615074 | Human | 1 | name , trait , alternate_id |
| 405260847 | CV3204333 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1776G>A (p.Gln592=) | SYNCRIP-related disorder [RCV003944168] | likely benign | 6 | 85614852 | 85614852 | Human | | name , trait , alternate_id |
| 405290541 | CV3207552 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1788A>G (p.Gln596=) | SYNCRIP-related disorder [RCV003927128] | likely benign | 6 | 85614840 | 85614840 | Human | | name , trait , alternate_id |
| 405271086 | CV3218932 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1644C>T (p.Arg548=) | SYNCRIP-related disorder [RCV003971671] | likely benign | 6 | 85614984 | 85614984 | Human | | name , trait , alternate_id |
| 596929245 | CV3540882 | single nucleotide variant | NM_006372.5(SYNCRIP):c.233A>G (p.Gln78Arg) | not provided [RCV004795211] | uncertain significance | 6 | 85640480 | 85640480 | Human | | name |
| 28904146 | CV859565 | duplication | NM_006372.5(SYNCRIP):c.854dup (p.Asn285fs) | not provided [RCV001093188] | uncertain significance | 6 | 85622635 | 85622636 | Human | | name |
| 150540748 | CV1298470 | deletion | NM_006372.5(SYNCRIP):c.1215del (p.Phe405fs) | not provided [RCV001760618] | uncertain significance | 6 | 85618883 | 85618883 | Human | | name |
| 150542157 | CV1302510 | single nucleotide variant | NM_006372.5(SYNCRIP):c.489G>C (p.Glu163Asp) | not provided [RCV001761200] | uncertain significance | 6 | 85637243 | 85637243 | Human | | name |
| 151717344 | CV1334921 | single nucleotide variant | NM_006372.5(SYNCRIP):c.646G>A (p.Ala216Thr) | Inborn genetic diseases [RCV002543287]|not provided [RCV001843879] | likely pathogenic|uncertain significance | 6 | 85636987 | 85636987 | Human | 1 | name |
| 152982226 | CV1677178 | single nucleotide variant | NM_006372.5(SYNCRIP):c.700A>G (p.Ile234Val) | not specified [RCV002248883] | uncertain significance | 6 | 85624079 | 85624079 | Human | | name |
| 156442205 | CV1938118 | single nucleotide variant | NM_006372.5(SYNCRIP):c.728A>G (p.Asn243Ser) | not provided [RCV003112544] | uncertain significance | 6 | 85624051 | 85624051 | Human | | name |
| 156139540 | CV2280756 | single nucleotide variant | NM_006372.5(SYNCRIP):c.626C>T (p.Thr209Ile) | Inborn genetic diseases [RCV002850212] | uncertain significance | 6 | 85637007 | 85637007 | Human | 1 | name |
| 156179434 | CV2327663 | single nucleotide variant | NM_006372.5(SYNCRIP):c.539C>A (p.Pro180Gln) | Inborn genetic diseases [RCV002930319] | uncertain significance | 6 | 85637094 | 85637094 | Human | 1 | name |
| 401731068 | CV2674249 | single nucleotide variant | NM_006372.5(SYNCRIP):c.662A>C (p.Lys221Thr) | Inborn genetic diseases [RCV003248472] | uncertain significance | 6 | 85636971 | 85636971 | Human | 1 | name |
| 401739796 | CV2738629 | single nucleotide variant | NM_006372.5(SYNCRIP):c.560C>T (p.Pro187Leu) | not provided [RCV003318023] | uncertain significance | 6 | 85637073 | 85637073 | Human | | name |
| 401796378 | CV2740561 | single nucleotide variant | NM_006372.5(SYNCRIP):c.485C>A (p.Thr162Asn) | not provided [RCV003321231] | uncertain significance | 6 | 85637247 | 85637247 | Human | | name |
| 402506823 | CV2927848 | single nucleotide variant | NM_006372.5(SYNCRIP):c.944G>A (p.Gly315Glu) | not provided [RCV003574477] | uncertain significance | 6 | 85622546 | 85622546 | Human | | name |
| 405273634 | CV3198123 | single nucleotide variant | NM_006372.5(SYNCRIP):c.302C>T (p.Thr101Ile) | SYNCRIP-related disorder [RCV003901894] | uncertain significance | 6 | 85640294 | 85640294 | Human | | name , trait , alternate_id |
| 408392619 | CV3525301 | single nucleotide variant | NM_006372.5(SYNCRIP):c.625A>G (p.Thr209Ala) | not provided [RCV004771187] | uncertain significance | 6 | 85637008 | 85637008 | Human | | name |
| 408387506 | CV3527084 | single nucleotide variant | NM_006372.5(SYNCRIP):c.346A>G (p.Ser116Gly) | not provided [RCV004773386] | uncertain significance | 6 | 85640250 | 85640250 | Human | | name |
| 597633860 | CV3609162 | single nucleotide variant | NM_006372.5(SYNCRIP):c.936G>T (p.Lys312Asn) | Inborn genetic diseases [RCV004969190] | uncertain significance | 6 | 85622554 | 85622554 | Human | 1 | name |
| 598235878 | CV3893520 | single nucleotide variant | NM_006372.5(SYNCRIP):c.848A>G (p.Lys283Arg) | not provided [RCV005256253] | uncertain significance | 6 | 85622642 | 85622642 | Human | | name |
| 598263888 | CV3923228 | single nucleotide variant | NM_006372.5(SYNCRIP):c.641A>C (p.Glu214Ala) | Inborn genetic diseases [RCV005280642] | uncertain significance | 6 | 85636992 | 85636992 | Human | 1 | name |
| 598223483 | CV3923229 | single nucleotide variant | NM_006372.5(SYNCRIP):c.778C>G (p.Leu260Val) | Inborn genetic diseases [RCV005293960] | uncertain significance | 6 | 85624001 | 85624001 | Human | 1 | name |
| 598263891 | CV3923230 | single nucleotide variant | NM_006372.5(SYNCRIP):c.361G>A (p.Glu121Lys) | Inborn genetic diseases [RCV005280643] | uncertain significance | 6 | 85640235 | 85640235 | Human | 1 | name |
| 42723478 | CV984323 | single nucleotide variant | NM_006372.5(SYNCRIP):c.629T>C (p.Phe210Ser) | Autism spectrum disorder [RCV001291386] | association | 6 | 85637004 | 85637004 | Human | 2 | name |
| 151728887 | CV1517586 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1368T>G (p.Tyr456Ter) | SYNCRIP-related neurodevelopmental disorder [RCV002052202] | likely pathogenic|uncertain significance | 6 | 85615260 | 85615260 | Human | 1 | name , trait |
| 156414348 | CV1916009 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1642C>T (p.Arg548Cys) | not provided [RCV002588557] | uncertain significance | 6 | 85614986 | 85614986 | Human | | name |
| 156248864 | CV2192663 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1275T>A (p.Asn425Lys) | not provided [RCV003059947] | uncertain significance | 6 | 85618823 | 85618823 | Human | | name |
| 156128696 | CV2238475 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1564G>A (p.Gly522Ser) | Inborn genetic diseases [RCV002762790] | uncertain significance | 6 | 85615064 | 85615064 | Human | 1 | name |
| 156281367 | CV2321860 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1823C>G (p.Ser608Cys) | Inborn genetic diseases [RCV002921735] | uncertain significance | 6 | 85614805 | 85614805 | Human | 1 | name |
| 156273169 | CV2344091 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1040A>G (p.Asn347Ser) | Inborn genetic diseases [RCV002988903] | uncertain significance | 6 | 85619386 | 85619386 | Human | 1 | name |
| 401738259 | CV2676182 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1835A>T (p.Glu612Val) | Inborn genetic diseases [RCV003240109] | likely benign | 6 | 85614793 | 85614793 | Human | 1 | name |
| 401829911 | CV2747606 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1802C>G (p.Ser601Cys) | not provided [RCV003329072] | uncertain significance | 6 | 85614826 | 85614826 | Human | | name |
| 401863490 | CV2776939 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1036G>A (p.Ala346Thr) | Inborn genetic diseases [RCV003378623] | uncertain significance | 6 | 85619390 | 85619390 | Human | 1 | name |
| 401876439 | CV2785895 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1640G>T (p.Gly547Val) | Inborn genetic diseases [RCV003383405] | uncertain significance | 6 | 85614988 | 85614988 | Human | 1 | name |
| 401936485 | CV2798572 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1864T>C (p.Trp622Arg) | SYNCRIP-related disorder [RCV003414497] | uncertain significance | 6 | 85614764 | 85614764 | Human | | name , trait , alternate_id |
| 401933636 | CV2799406 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1682T>G (p.Val561Gly) | SYNCRIP-related disorder [RCV003410510] | uncertain significance | 6 | 85614946 | 85614946 | Human | | name , trait , alternate_id |
| 401933620 | CV2802269 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1523C>T (p.Pro508Leu) | SYNCRIP-related disorder [RCV003410494] | uncertain significance | 6 | 85615105 | 85615105 | Human | | name , trait , alternate_id |
| 405724594 | CV3324178 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1324C>G (p.Pro442Ala) | Inborn genetic diseases [RCV004463589] | uncertain significance | 6 | 85615304 | 85615304 | Human | 1 | name |
| 405724601 | CV3324179 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1603G>A (p.Val535Ile) | Inborn genetic diseases [RCV004463590] | uncertain significance | 6 | 85615025 | 85615025 | Human | 1 | name |
| 405724609 | CV3324180 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1742A>G (p.Asn581Ser) | Inborn genetic diseases [RCV004463591] | uncertain significance | 6 | 85614886 | 85614886 | Human | 1 | name |
| 405724619 | CV3324181 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1811A>G (p.Tyr604Cys) | Inborn genetic diseases [RCV004463592] | benign | 6 | 85614817 | 85614817 | Human | 1 | name |
| 405724628 | CV3324182 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1863G>T (p.Gln621His) | Inborn genetic diseases [RCV004463593] | uncertain significance | 6 | 85614765 | 85614765 | Human | 1 | name |
| 407530269 | CV3478222 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1849A>T (p.Thr617Ser) | Inborn genetic diseases [RCV004681817] | uncertain significance | 6 | 85614779 | 85614779 | Human | 1 | name |
| 407505519 | CV3478223 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1570T>G (p.Ser524Ala) | Inborn genetic diseases [RCV004670860] | uncertain significance | 6 | 85615058 | 85615058 | Human | 1 | name |
| 407530271 | CV3478226 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1700C>T (p.Ala567Val) | Inborn genetic diseases [RCV004681819] | uncertain significance | 6 | 85614928 | 85614928 | Human | 1 | name |
| 408366029 | CV3513014 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1567T>C (p.Tyr523His) | SYNCRIP-related disorder [RCV004755462] | uncertain significance | 6 | 85615061 | 85615061 | Human | | name , trait , alternate_id |
| 408393779 | CV3519928 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1529G>A (p.Arg510Lys) | not provided [RCV004764224] | uncertain significance | 6 | 85615099 | 85615099 | Human | | name |
| 408388578 | CV3522727 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1319C>T (p.Pro440Leu) | not provided [RCV004769108] | uncertain significance | 6 | 85615309 | 85615309 | Human | | name |
| 408388615 | CV3529065 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1162A>G (p.Met388Val) | not provided [RCV004773887] | uncertain significance | 6 | 85618936 | 85618936 | Human | | name |
| 408389129 | CV3529232 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1752C>G (p.Asn584Lys) | not provided [RCV004774054] | uncertain significance | 6 | 85614876 | 85614876 | Human | | name |
| 596921658 | CV3535280 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1342C>T (p.Arg448Cys) | not provided [RCV004784839] | uncertain significance | 6 | 85615286 | 85615286 | Human | | name |
| 596944461 | CV3543402 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1328C>A (p.Thr443Lys) | not provided [RCV004801523] | uncertain significance | 6 | 85615300 | 85615300 | Human | | name |
| 597633843 | CV3609158 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1457A>G (p.Tyr486Cys) | Inborn genetic diseases [RCV004969186] | uncertain significance | 6 | 85615171 | 85615171 | Human | 1 | name |
| 597633847 | CV3609159 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1126A>G (p.Ile376Val) | Inborn genetic diseases [RCV004969187] | likely benign | 6 | 85619300 | 85619300 | Human | 1 | name |
| 597633852 | CV3609160 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1419T>G (p.Asp473Glu) | Inborn genetic diseases [RCV004969188] | uncertain significance | 6 | 85615209 | 85615209 | Human | 1 | name |
| 597633858 | CV3609161 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1621G>T (p.Gly541Cys) | Inborn genetic diseases [RCV004969189] | uncertain significance | 6 | 85615007 | 85615007 | Human | 1 | name |
| 597716019 | CV3733232 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1808A>C (p.Asn603Thr) | not provided [RCV005052422] | uncertain significance | 6 | 85614820 | 85614820 | Human | | name |
| 598128877 | CV3886677 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1400A>T (p.Tyr467Phe) | not provided [RCV005244337] | likely benign | 6 | 85615228 | 85615228 | Human | | name |
| 598200751 | CV3892700 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1043C>T (p.Thr348Ile) | not provided [RCV005254533] | uncertain significance | 6 | 85619383 | 85619383 | Human | | name |
| 39456932 | CV966259 | single nucleotide variant | NM_006372.5(SYNCRIP):c.1561G>A (p.Ala521Thr) | SYNCRIP-related Intellectual Disability [RCV004799387] | uncertain significance | 6 | 85615067 | 85615067 | Human | | name , trait |
| 40889909 | CV975210 | microsatellite | NM_006372.5(SYNCRIP):c.858_859del (p.Gly287fs) | not provided [RCV001268424] | likely pathogenic | 6 | 85622631 | 85622632 | Human | | name |
| 407530270 | CV3478225 | deletion | NM_006372.5(SYNCRIP):c.852_854del (p.Lys284del) | Inborn genetic diseases [RCV004681818] | uncertain significance | 6 | 85622636 | 85622638 | Human | 1 | name |
| 407427421 | CV3411889 | deletion | NM_006372.5(SYNCRIP):c.1564_1568del (p.Gly522fs) | not provided [RCV004592060] | uncertain significance | 6 | 85615060 | 85615064 | Human | | name |
| 407505520 | CV3478224 | deletion | NM_006372.5(SYNCRIP):c.817_828del (p.Val273_Tyr276del) | Inborn genetic diseases [RCV004670861] | uncertain significance | 6 | 85622662 | 85622673 | Human | 1 | name |
| 42723479 | CV984322 | indel | NM_006372.5(SYNCRIP):c.1573_1574delinsTT (p.Gln525Leu) | Autism spectrum disorder [RCV001291387] | association | 6 | 85615054 | 85615055 | Human | | name |
| 401830228 | CV2747944 | copy number loss | GRCh37/hg19 6q14.3(chr6:86281805-86351207)x1 | SYNCRIP-associated neurodevelopmental disorder [RCV003329561] | likely pathogenic | | | | Human | | trait |