NM_014989.7(RIMS1):c.2459G>A (p.Arg820His) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000004385]|Retinal dystrophy [RCV001074043]|not provided [RCV001386853] |
Chr6:72251007 [GRCh38] Chr6:72960710 [GRCh37] Chr6:6q13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_014989.7(RIMS1):c.1249G>A (p.Ala417Thr) |
single nucleotide variant |
not provided [RCV000520982] |
Chr6:72182720 [GRCh38] Chr6:72892423 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.5(RIMS1):c.246-42726C>A |
single nucleotide variant |
Lung cancer [RCV000097162] |
Chr6:72054223 [GRCh38] Chr6:72763926 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.5(RIMS1):c.2770+2064G>A |
single nucleotide variant |
Lung cancer [RCV000097163] |
Chr6:72254896 [GRCh38] Chr6:72964599 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1679-16551C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001196852] |
Chr6:72217222 [GRCh38] Chr6:72926925 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh38/hg38 6q13(chr6:71961903-72268687)x1 |
copy number loss |
See cases [RCV000052583] |
Chr6:71961903..72268687 [GRCh38] Chr6:72671606..72978390 [GRCh37] Chr6:72728327..73035111 [NCBI36] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1083A>G (p.Leu361=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000347586]|not provided [RCV000828501]|not specified [RCV000081688] |
Chr6:72182554 [GRCh38] Chr6:72892257 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000399456]|not provided [RCV000842175]|not specified [RCV000081689] |
Chr6:72182680 [GRCh38] Chr6:72892383 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.4983G>A (p.Pro1661=) |
single nucleotide variant |
not provided [RCV000901125]|not specified [RCV000081690] |
Chr6:72400618 [GRCh38] Chr6:73110320 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.2801A>G (p.Lys934Arg) |
single nucleotide variant |
not provided [RCV001367905] |
Chr6:72258155 [GRCh38] Chr6:72967858 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3235A>G (p.Arg1079Gly) |
single nucleotide variant |
not provided [RCV002001800] |
Chr6:72265430 [GRCh38] Chr6:72975133 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs) |
deletion |
Cone-rod dystrophy 7 [RCV000778801]|Leber congenital amaurosis [RCV000144472]|not provided [RCV001495372] |
Chr6:72264994 [GRCh38] Chr6:72974697 [GRCh37] Chr6:6q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014989.7(RIMS1):c.2699-8T>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000327241]|not provided [RCV000175081]|not specified [RCV001699142] |
Chr6:72252753 [GRCh38] Chr6:72962456 [GRCh37] Chr6:6q13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 6q13(chr6:71845502-72098192)x1 |
copy number loss |
See cases [RCV000135861] |
Chr6:71845502..72098192 [GRCh38] Chr6:72555205..72807895 [GRCh37] Chr6:72611926..72864616 [NCBI36] Chr6:6q13 |
pathogenic |
GRCh38/hg38 6q13(chr6:70809191-71941709)x3 |
copy number gain |
See cases [RCV000135579] |
Chr6:70809191..71941709 [GRCh38] Chr6:71518894..72651412 [GRCh37] Chr6:71575615..72708133 [NCBI36] Chr6:6q13 |
uncertain significance |
GRCh38/hg38 6q13(chr6:70794142-71972780)x3 |
copy number gain |
See cases [RCV000142320] |
Chr6:70794142..71972780 [GRCh38] Chr6:71503845..72682483 [GRCh37] Chr6:71560566..72739204 [NCBI36] Chr6:6q13 |
uncertain significance |
GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 |
copy number loss |
See cases [RCV000142527] |
Chr6:64549655..83426791 [GRCh38] Chr6:65259548..84136510 [GRCh37] Chr6:65316269..84193229 [NCBI36] Chr6:6q12-14.2 |
pathogenic |
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=) |
single nucleotide variant |
not provided [RCV000153843] |
Chr6:72235635 [GRCh38] Chr6:72945338 [GRCh37] Chr6:6q13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=) |
single nucleotide variant |
RIMS1-related disorder [RCV003955083]|not provided [RCV000179486] |
Chr6:72183004 [GRCh38] Chr6:72892707 [GRCh37] Chr6:6q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014989.7(RIMS1):c.4606A>G (p.Thr1536Ala) |
single nucleotide variant |
not provided [RCV000177565] |
Chr6:72392798 [GRCh38] Chr6:73102500 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4506-5G>A |
single nucleotide variant |
RIMS1-related disorder [RCV003967423]|not provided [RCV000177566] |
Chr6:72392693 [GRCh38] Chr6:73102395 [GRCh37] Chr6:6q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014989.7(RIMS1):c.438C>T (p.Arg146=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000260375]|Retinal dystrophy [RCV004816610]|not provided [RCV000958969] |
Chr6:72097141 [GRCh38] Chr6:72806844 [GRCh37] Chr6:6q13 |
benign|likely benign|uncertain significance |
NM_014989.7(RIMS1):c.*1076A>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000259826] |
Chr6:72401790 [GRCh38] Chr6:73111492 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.1477G>C (p.Glu493Gln) |
single nucleotide variant |
Long QT syndrome [RCV000190210] |
Chr6:72182948 [GRCh38] Chr6:72892651 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000292387]|Retinal dystrophy [RCV004816506]|not provided [RCV000303767] |
Chr6:72258248 [GRCh38] Chr6:72967951 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.3738-20G>A |
single nucleotide variant |
not provided [RCV002518643]|not specified [RCV000246137] |
Chr6:72291914 [GRCh38] Chr6:73001617 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.813-14T>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000286580]|not provided [RCV001513745] |
Chr6:72182270 [GRCh38] Chr6:72891973 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*138G>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000282973] |
Chr6:72400852 [GRCh38] Chr6:73110554 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.2895G>A (p.Pro965=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000349573]|not provided [RCV000973875]|not specified [RCV000249553] |
Chr6:72258249 [GRCh38] Chr6:72967952 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.3470C>T (p.Pro1157Leu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000300193]|not provided [RCV001513970]|not specified [RCV000254337] |
Chr6:72274420 [GRCh38] Chr6:72984123 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.1776G>A (p.Glu592=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000320550]|Retinal dystrophy [RCV004816457]|not provided [RCV001510293]|not specified [RCV000244802] |
Chr6:72235647 [GRCh38] Chr6:72945350 [GRCh37] Chr6:6q13 |
benign|likely benign|uncertain significance |
NM_014989.7(RIMS1):c.666A>G (p.Leu222=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000282879]|not provided [RCV000836693]|not specified [RCV000244988] |
Chr6:72179769 [GRCh38] Chr6:72889472 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.743C>T (p.Ser248Leu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000378741]|not provided [RCV001515174]|not specified [RCV000249745] |
Chr6:72179846 [GRCh38] Chr6:72889549 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000268560]|Retinal dystrophy [RCV004816612]|not provided [RCV000520457] |
Chr6:72333628 [GRCh38] Chr6:73043331 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.4548C>T (p.Phe1516=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000329357]|not provided [RCV000836760]|not specified [RCV000250069] |
Chr6:72392740 [GRCh38] Chr6:73102442 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.-13G>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000275827] |
Chr6:71887011 [GRCh38] Chr6:72596714 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.648G>A (p.Ser216=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000375112]|not provided [RCV000965013]|not specified [RCV000253206] |
Chr6:72179751 [GRCh38] Chr6:72889454 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.1459G>A (p.Ala487Thr) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000298478]|not provided [RCV000971888]|not specified [RCV001700007] |
Chr6:72182930 [GRCh38] Chr6:72892633 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*1964C>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000397379] |
Chr6:72402678 [GRCh38] Chr6:73112380 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.3465G>A (p.Ala1155=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000394207]|Retinal dystrophy [RCV004816611]|not provided [RCV000894958] |
Chr6:72274415 [GRCh38] Chr6:72984118 [GRCh37] Chr6:6q13 |
benign|likely benign|uncertain significance |
NM_014989.7(RIMS1):c.*1025G>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000299850] |
Chr6:72401739 [GRCh38] Chr6:73111441 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*75G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000374890]|not provided [RCV001775781] |
Chr6:72400789 [GRCh38] Chr6:73110491 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.672A>G (p.Thr224=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000321595]|not provided [RCV001443308] |
Chr6:72179775 [GRCh38] Chr6:72889478 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.*2125G>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000397365] |
Chr6:72402839 [GRCh38] Chr6:73112541 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*1038A>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000354669] |
Chr6:72401752 [GRCh38] Chr6:73111454 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000303373]|not provided [RCV000899846] |
Chr6:72307348 [GRCh38] Chr6:73017051 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.4860+15G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000371588]|not provided [RCV001513743] |
Chr6:72399109 [GRCh38] Chr6:73108811 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*283A>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000397863] |
Chr6:72400997 [GRCh38] Chr6:73110699 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*44G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000336639] |
Chr6:72400758 [GRCh38] Chr6:73110460 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*542A>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000401053] |
Chr6:72401256 [GRCh38] Chr6:73110958 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3921G>T (p.Gly1307=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000400142]|not provided [RCV001042716] |
Chr6:72307328 [GRCh38] Chr6:73017031 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.*2049T>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000338009] |
Chr6:72402763 [GRCh38] Chr6:73112465 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*1494T>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000326432] |
Chr6:72402208 [GRCh38] Chr6:73111910 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.2523A>G (p.Glu841=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000380862]|not provided [RCV000886827]|not specified [RCV001700346] |
Chr6:72251071 [GRCh38] Chr6:72960774 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.4512A>G (p.Ile1504Met) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000272110]|not provided [RCV001057796] |
Chr6:72392704 [GRCh38] Chr6:73102406 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4191G>A (p.Lys1397=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000307390]|not provided [RCV000916585] |
Chr6:72333660 [GRCh38] Chr6:73043363 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.*1458A>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000290111] |
Chr6:72402172 [GRCh38] Chr6:73111874 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.165-5C>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000353129]|not provided [RCV001510381] |
Chr6:71968978 [GRCh38] Chr6:72678681 [GRCh37] Chr6:6q13 |
benign|uncertain significance |
NM_014989.7(RIMS1):c.*2291C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000353117] |
Chr6:72403005 [GRCh38] Chr6:73112707 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.2670T>C (p.His890=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000625448]|not provided [RCV000883819]|not specified [RCV001700347] |
Chr6:72251340 [GRCh38] Chr6:72961043 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.942G>A (p.Arg314=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000290235]|not provided [RCV000906146] |
Chr6:72182413 [GRCh38] Chr6:72892116 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.-302C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000401713] |
Chr6:71886722 [GRCh38] Chr6:72596425 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.1384C>A (p.Pro462Thr) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000401473]|not provided [RCV001861290] |
Chr6:72182855 [GRCh38] Chr6:72892558 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.4842A>G (p.Pro1614=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000332898]|not provided [RCV001522510] |
Chr6:72399076 [GRCh38] Chr6:73108778 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.2367T>C (p.Asp789=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000323921]|not provided [RCV000907470] |
Chr6:72250455 [GRCh38] Chr6:72960158 [GRCh37] Chr6:6q13 |
benign|likely benign|uncertain significance |
NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala) |
single nucleotide variant |
Cone-Rod Dystrophy, Dominant [RCV000364281]|not provided [RCV001861291] |
Chr6:72333728 [GRCh38] Chr6:73043431 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000333301]|not provided [RCV000592518] |
Chr6:71887051 [GRCh38] Chr6:72596754 [GRCh37] Chr6:6q13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014989.7(RIMS1):c.-249C>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000308470]|not provided [RCV004695972] |
Chr6:71886775 [GRCh38] Chr6:72596478 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3171C>T (p.Ser1057=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000387822]|not provided [RCV000880124] |
Chr6:72265029 [GRCh38] Chr6:72974732 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.1311G>A (p.Arg437=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000312676]|not provided [RCV002524503] |
Chr6:72182782 [GRCh38] Chr6:72892485 [GRCh37] Chr6:6q13 |
benign|uncertain significance |
NM_014989.7(RIMS1):c.3399-4A>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000335172]|not provided [RCV000598101] |
Chr6:72274345 [GRCh38] Chr6:72984048 [GRCh37] Chr6:6q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014989.7(RIMS1):c.2241T>C (p.Ser747=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000359084]|RIMS1-related disorder [RCV003932479]|not provided [RCV001303490] |
Chr6:72248127 [GRCh38] Chr6:72957830 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.2792G>A (p.Arg931Lys) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000384394] |
Chr6:72258146 [GRCh38] Chr6:72967849 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.-127G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000368884] |
Chr6:71886897 [GRCh38] Chr6:72596600 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5076A>G (p.Ser1692=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000279306]|not provided [RCV000961739] |
Chr6:72400711 [GRCh38] Chr6:73110413 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.3786G>A (p.Ser1262=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000338805]|not provided [RCV000940603]|not specified [RCV001699392] |
Chr6:72291982 [GRCh38] Chr6:73001685 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*280C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000340342] |
Chr6:72400994 [GRCh38] Chr6:73110696 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.3194+9C>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000296607]|RIMS1-related disorder [RCV003922581]|not provided [RCV000892094] |
Chr6:72265061 [GRCh38] Chr6:72974764 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.-140T>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000311886] |
Chr6:71886884 [GRCh38] Chr6:72596587 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.594A>G (p.Thr198=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000318187]|not provided [RCV000950710] |
Chr6:72179697 [GRCh38] Chr6:72889400 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*1935A>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000341340] |
Chr6:72402649 [GRCh38] Chr6:73112351 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*783G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000366022] |
Chr6:72401497 [GRCh38] Chr6:73111199 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*2251G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000298252] |
Chr6:72402965 [GRCh38] Chr6:73112667 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.928C>G (p.Arg310Gly) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000396055]|not provided [RCV001850909] |
Chr6:72182399 [GRCh38] Chr6:72892102 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000266698]|not provided [RCV001242333] |
Chr6:72250382 [GRCh38] Chr6:72960085 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.*1991T>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000282779] |
Chr6:72402705 [GRCh38] Chr6:73112407 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.1704T>C (p.Asp568=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000263079] |
Chr6:72233798 [GRCh38] Chr6:72943501 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1230C>G (p.Gly410=) |
single nucleotide variant |
not provided [RCV000888720]|not specified [RCV000318271] |
Chr6:72182701 [GRCh38] Chr6:72892404 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.*864G>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000263445] |
Chr6:72401578 [GRCh38] Chr6:73111280 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*1453dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000275052] |
Chr6:72402155..72402156 [GRCh38] Chr6:73111857..73111858 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.4618+20del |
deletion |
Cone-Rod Dystrophy, Dominant [RCV000275451]|not provided [RCV001515282] |
Chr6:72392821 [GRCh38] Chr6:73102523 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.2708G>A (p.Arg903Gln) |
single nucleotide variant |
Retinal dystrophy [RCV004816710]|not provided [RCV000487918] |
Chr6:72252770 [GRCh38] Chr6:72962473 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*1446A>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000330107] |
Chr6:72402160 [GRCh38] Chr6:73111862 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*1682C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000381112] |
Chr6:72402396 [GRCh38] Chr6:73112098 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.-181G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000399712] |
Chr6:71886843 [GRCh38] Chr6:72596546 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*2386T>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000401987] |
Chr6:72403100 [GRCh38] Chr6:73112802 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.-182_-180dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000365353] |
Chr6:71886840..71886841 [GRCh38] Chr6:72596543..72596544 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.*517dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000305333] |
Chr6:72401222..72401223 [GRCh38] Chr6:73110924..73110925 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*1355C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000333634] |
Chr6:72402069 [GRCh38] Chr6:73111771 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*1457dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000384499] |
Chr6:72402167..72402168 [GRCh38] Chr6:73111869..73111870 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4618+20dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000386150]|not provided [RCV001516407] |
Chr6:72392820..72392821 [GRCh38] Chr6:73102522..73102523 [GRCh37] Chr6:6q13 |
benign|uncertain significance |
NM_014989.7(RIMS1):c.*1390dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000388163] |
Chr6:72402103..72402104 [GRCh38] Chr6:73111805..73111806 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.*545C>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000308923] |
Chr6:72401259 [GRCh38] Chr6:73110961 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1382C>T (p.Ala461Val) |
single nucleotide variant |
Cone-Rod Dystrophy, Dominant [RCV000370778]|not provided [RCV001205892]|not specified [RCV004022033] |
Chr6:72182853 [GRCh38] Chr6:72892556 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*1705C>T |
single nucleotide variant |
Cone-Rod Dystrophy, Dominant [RCV000286366] |
Chr6:72402419 [GRCh38] Chr6:73112121 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1556C>T (p.Ser519Phe) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000355685]|not provided [RCV001850910] |
Chr6:72183027 [GRCh38] Chr6:72892730 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.913G>C (p.Val305Leu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000344008] |
Chr6:72182384 [GRCh38] Chr6:72892087 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*538C>T |
single nucleotide variant |
Cone-Rod Dystrophy, Dominant [RCV000343933] |
Chr6:72401252 [GRCh38] Chr6:73110954 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala) |
single nucleotide variant |
Cone-Rod Dystrophy, Dominant [RCV000360403] |
Chr6:72313599 [GRCh38] Chr6:73023302 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001165366]|RIMS1-related disorder [RCV004757253]|not provided [RCV000598303]|not specified [RCV004024716] |
Chr6:71968987 [GRCh38] Chr6:72678690 [GRCh37] Chr6:6q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014989.7(RIMS1):c.3194+1G>A |
single nucleotide variant |
Ornithine aminotransferase deficiency [RCV001199743]|not provided [RCV000415728] |
Chr6:72265053 [GRCh38] Chr6:72974756 [GRCh37] Chr6:6q13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_014989.7(RIMS1):c.3182G>A (p.Trp1061Ter) |
single nucleotide variant |
not provided [RCV000480104] |
Chr6:72265040 [GRCh38] Chr6:72974743 [GRCh37] Chr6:6q13 |
pathogenic|uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_014989.7(RIMS1):c.3622A>G (p.Arg1208Gly) |
single nucleotide variant |
not specified [RCV004320598] |
Chr6:72290746 [GRCh38] Chr6:73000449 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.269G>T (p.Ser90Ile) |
single nucleotide variant |
not specified [RCV004313938] |
Chr6:72096972 [GRCh38] Chr6:72806675 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3785C>T (p.Ser1262Leu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163772]|not provided [RCV000596111] |
Chr6:72291981 [GRCh38] Chr6:73001684 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr) |
single nucleotide variant |
not provided [RCV000595725] |
Chr6:72245840 [GRCh38] Chr6:72955543 [GRCh37] Chr6:6q13 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q13(chr6:72863880-72873297)x1 |
copy number loss |
not provided [RCV000745839] |
Chr6:72863880..72873297 [GRCh37] Chr6:6q13 |
benign |
GRCh37/hg19 6q13(chr6:72863880-72873653)x1 |
copy number loss |
not provided [RCV000745840] |
Chr6:72863880..72873653 [GRCh37] Chr6:6q13 |
benign |
GRCh37/hg19 6q13(chr6:72866259-72873297)x3 |
copy number gain |
not provided [RCV000745841] |
Chr6:72866259..72873297 [GRCh37] Chr6:6q13 |
benign |
GRCh37/hg19 6q13(chr6:72866914-72873297)x3 |
copy number gain |
not provided [RCV000745842] |
Chr6:72866914..72873297 [GRCh37] Chr6:6q13 |
benign |
GRCh37/hg19 6q13(chr6:72868178-72873653)x3 |
copy number gain |
not provided [RCV000745843] |
Chr6:72868178..72873653 [GRCh37] Chr6:6q13 |
benign |
GRCh37/hg19 6q13(chr6:72923329-73077688)x3 |
copy number gain |
not provided [RCV000745844] |
Chr6:72923329..73077688 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3053+74A>T |
single nucleotide variant |
not provided [RCV001647821] |
Chr6:72259185 [GRCh38] Chr6:72968888 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.1046A>C (p.Glu349Ala) |
single nucleotide variant |
not provided [RCV001052494]|not specified [RCV004031646] |
Chr6:72182517 [GRCh38] Chr6:72892220 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4267G>A (p.Val1423Ile) |
single nucleotide variant |
not provided [RCV001055133] |
Chr6:72333736 [GRCh38] Chr6:73043439 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4306G>A (p.Ala1436Thr) |
single nucleotide variant |
not provided [RCV001059686] |
Chr6:72333775 [GRCh38] Chr6:73043478 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3281T>G (p.Leu1094Trp) |
single nucleotide variant |
Retinal dystrophy [RCV004813664]|not provided [RCV001060609] |
Chr6:72265476 [GRCh38] Chr6:72975179 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3471G>A (p.Pro1157=) |
single nucleotide variant |
not provided [RCV000929456] |
Chr6:72274421 [GRCh38] Chr6:72984124 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.812+10C>A |
single nucleotide variant |
not provided [RCV000923098] |
Chr6:72179925 [GRCh38] Chr6:72889628 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4674T>C (p.Ile1558=) |
single nucleotide variant |
not provided [RCV000923241] |
Chr6:72398304 [GRCh38] Chr6:73108006 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4197C>T (p.Thr1399=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158860]|RIMS1-related disorder [RCV003902936]|not provided [RCV000914746] |
Chr6:72333666 [GRCh38] Chr6:73043369 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.561A>G (p.Thr187=) |
single nucleotide variant |
not provided [RCV000915423] |
Chr6:72179664 [GRCh38] Chr6:72889367 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4317T>C (p.Val1439=) |
single nucleotide variant |
RIMS1-related disorder [RCV003922943]|not provided [RCV000899860] |
Chr6:72333786 [GRCh38] Chr6:73043489 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2082-9T>C |
single nucleotide variant |
not provided [RCV000968092] |
Chr6:72245806 [GRCh38] Chr6:72955509 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.1174G>A (p.Asp392Asn) |
single nucleotide variant |
not provided [RCV001050354] |
Chr6:72182645 [GRCh38] Chr6:72892348 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1679-20601G>A |
single nucleotide variant |
Retinal dystrophy [RCV001075457] |
Chr6:72213172 [GRCh38] Chr6:72922875 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4111C>T (p.Arg1371Cys) |
single nucleotide variant |
Retinal dystrophy [RCV001075591]|not provided [RCV001341691] |
Chr6:72313653 [GRCh38] Chr6:73023356 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2553A>G (p.Ile851Met) |
single nucleotide variant |
Retinal dystrophy [RCV001075777] |
Chr6:72251223 [GRCh38] Chr6:72960926 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2696A>G (p.Gln899Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001073257]|not provided [RCV002304231] |
Chr6:72251366 [GRCh38] Chr6:72961069 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163770]|Retinal dystrophy [RCV004813579]|not provided [RCV001042184] |
Chr6:72290827 [GRCh38] Chr6:73000530 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.164A>T (p.Lys55Met) |
single nucleotide variant |
Retinal dystrophy [RCV001074137]|not provided [RCV001862538] |
Chr6:71887187 [GRCh38] Chr6:72596890 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2370A>G (p.Arg790=) |
single nucleotide variant |
Retinal dystrophy [RCV001074140]|not provided [RCV001442799] |
Chr6:72250458 [GRCh38] Chr6:72960161 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.1265_1276dup (p.Pro422_Pro425dup) |
duplication |
not provided [RCV001048184] |
Chr6:72182727..72182728 [GRCh38] Chr6:72892430..72892431 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2803T>C (p.Ser935Pro) |
single nucleotide variant |
not provided [RCV001066283]|not specified [RCV004030604] |
Chr6:72258157 [GRCh38] Chr6:72967860 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1009G>A (p.Gly337Ser) |
single nucleotide variant |
not provided [RCV001069812] |
Chr6:72182480 [GRCh38] Chr6:72892183 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5053A>G (p.Thr1685Ala) |
single nucleotide variant |
not provided [RCV001036748] |
Chr6:72400688 [GRCh38] Chr6:73110390 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000778802]|not provided [RCV003727822] |
Chr6:72400706 [GRCh38] Chr6:73110408 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1679-16555A>G |
single nucleotide variant |
not provided [RCV000926545] |
Chr6:72217218 [GRCh38] Chr6:72926921 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.798A>G (p.Glu266=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001161852]|RIMS1-related disorder [RCV003950838]|not provided [RCV000916811] |
Chr6:72179901 [GRCh38] Chr6:72889604 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4505+10G>A |
single nucleotide variant |
not provided [RCV000958970] |
Chr6:72390746 [GRCh38] Chr6:73100448 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3144A>G (p.Leu1048=) |
single nucleotide variant |
not provided [RCV000903340] |
Chr6:72265002 [GRCh38] Chr6:72974705 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1890A>C (p.Arg630=) |
single nucleotide variant |
not provided [RCV000919869] |
Chr6:72237855 [GRCh38] Chr6:72947558 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1989C>G (p.Pro663=) |
single nucleotide variant |
not provided [RCV000981214] |
Chr6:72242345 [GRCh38] Chr6:72952048 [GRCh37] Chr6:6q13 |
likely benign |
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) |
copy number gain |
not provided [RCV000767714] |
Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1 |
pathogenic |
NM_014989.7(RIMS1):c.1908C>T (p.Thr636=) |
single nucleotide variant |
not provided [RCV000976661] |
Chr6:72237873 [GRCh38] Chr6:72947576 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.39C>G (p.Pro13=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001165365]|not provided [RCV002068004] |
Chr6:71887062 [GRCh38] Chr6:72596765 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.1679-20563C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV000791154]|not provided [RCV004692238] |
Chr6:72213210 [GRCh38] Chr6:72922913 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163771]|not provided [RCV001477730] |
Chr6:72291954 [GRCh38] Chr6:73001657 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.*453G>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163889] |
Chr6:72401167 [GRCh38] Chr6:73110869 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1857+61C>T |
single nucleotide variant |
not provided [RCV000836694] |
Chr6:72235789 [GRCh38] Chr6:72945492 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.2928-80C>T |
single nucleotide variant |
not provided [RCV000836695] |
Chr6:72258906 [GRCh38] Chr6:72968609 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.1679-9A>G |
single nucleotide variant |
not provided [RCV000979621] |
Chr6:72233764 [GRCh38] Chr6:72943467 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2874C>T (p.Arg958=) |
single nucleotide variant |
not provided [RCV000918763] |
Chr6:72258228 [GRCh38] Chr6:72967931 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1723C>T (p.Arg575Trp) |
single nucleotide variant |
Retinal dystrophy [RCV004813648]|not provided [RCV001057907] |
Chr6:72233817 [GRCh38] Chr6:72943520 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4835A>C (p.Glu1612Ala) |
single nucleotide variant |
not provided [RCV001058965] |
Chr6:72399069 [GRCh38] Chr6:73108771 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.-121C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001165363] |
Chr6:71886903 [GRCh38] Chr6:72596606 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1 |
copy number loss |
not provided [RCV000847757] |
Chr6:69481460..73185349 [GRCh37] Chr6:6q12-13 |
pathogenic |
NM_014989.7(RIMS1):c.1679-20641C>T |
single nucleotide variant |
not provided [RCV000998644] |
Chr6:72213132 [GRCh38] Chr6:72922835 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1386G>A (p.Pro462=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163670]|not provided [RCV002067990] |
Chr6:72182857 [GRCh38] Chr6:72892560 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.1758G>A (p.Thr586=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163671]|not provided [RCV002067991] |
Chr6:72235629 [GRCh38] Chr6:72945332 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1364G>A (p.Gly455Glu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163669] |
Chr6:72182835 [GRCh38] Chr6:72892538 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.104T>C (p.Ile35Thr) |
single nucleotide variant |
not provided [RCV001230928] |
Chr6:71887127 [GRCh38] Chr6:72596830 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1746G>A (p.Ser582=) |
single nucleotide variant |
not provided [RCV001246251] |
Chr6:72233840 [GRCh38] Chr6:72943543 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3279A>G (p.Val1093=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163479] |
Chr6:72265474 [GRCh38] Chr6:72975177 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*2132A>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001161956] |
Chr6:72402846 [GRCh38] Chr6:73112548 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2977C>T (p.His993Tyr) |
single nucleotide variant |
not provided [RCV001212517] |
Chr6:72259035 [GRCh38] Chr6:72968738 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.617G>A (p.Arg206Lys) |
single nucleotide variant |
not provided [RCV001229963] |
Chr6:72179720 [GRCh38] Chr6:72889423 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2261A>G (p.Lys754Arg) |
single nucleotide variant |
not provided [RCV001212549] |
Chr6:72250349 [GRCh38] Chr6:72960052 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.376G>T (p.Asp126Tyr) |
single nucleotide variant |
not provided [RCV001234198] |
Chr6:72097079 [GRCh38] Chr6:72806782 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4003G>A (p.Val1335Ile) |
single nucleotide variant |
not provided [RCV001236983] |
Chr6:72313545 [GRCh38] Chr6:73023248 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4072C>T (p.Arg1358Cys) |
single nucleotide variant |
not provided [RCV001224084] |
Chr6:72313614 [GRCh38] Chr6:73023317 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3016A>G (p.Arg1006Gly) |
single nucleotide variant |
not provided [RCV001237866] |
Chr6:72259074 [GRCh38] Chr6:72968777 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1724G>A (p.Arg575Gln) |
single nucleotide variant |
not provided [RCV001239470] |
Chr6:72233818 [GRCh38] Chr6:72943521 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4186A>G (p.Met1396Val) |
single nucleotide variant |
not provided [RCV001227183] |
Chr6:72333655 [GRCh38] Chr6:73043358 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2617T>C (p.Ser873Pro) |
single nucleotide variant |
not provided [RCV001209306] |
Chr6:72251287 [GRCh38] Chr6:72960990 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1748A>G (p.His583Arg) |
single nucleotide variant |
not provided [RCV001243065] |
Chr6:72235619 [GRCh38] Chr6:72945322 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3710C>T (p.Ser1237Leu) |
single nucleotide variant |
not provided [RCV001238210] |
Chr6:72290834 [GRCh38] Chr6:73000537 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1315C>G (p.Pro439Ala) |
single nucleotide variant |
not provided [RCV001227189] |
Chr6:72182786 [GRCh38] Chr6:72892489 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2093G>A (p.Arg698Gln) |
single nucleotide variant |
not provided [RCV001235241] |
Chr6:72245826 [GRCh38] Chr6:72955529 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3431G>A (p.Arg1144Gln) |
single nucleotide variant |
not provided [RCV001238356] |
Chr6:72274381 [GRCh38] Chr6:72984084 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2311G>A (p.Ala771Thr) |
single nucleotide variant |
not provided [RCV001241604] |
Chr6:72250399 [GRCh38] Chr6:72960102 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3691C>T (p.His1231Tyr) |
single nucleotide variant |
not provided [RCV001226363] |
Chr6:72290815 [GRCh38] Chr6:73000518 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2633C>T (p.Pro878Leu) |
single nucleotide variant |
not provided [RCV001226397] |
Chr6:72251303 [GRCh38] Chr6:72961006 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2308C>T (p.Pro770Ser) |
single nucleotide variant |
not provided [RCV001242586]|not specified [RCV004034723] |
Chr6:72250396 [GRCh38] Chr6:72960099 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3176C>G (p.Ser1059Cys) |
single nucleotide variant |
not provided [RCV001240708] |
Chr6:72265034 [GRCh38] Chr6:72974737 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3725C>T (p.Pro1242Leu) |
single nucleotide variant |
not provided [RCV001240763]|not specified [RCV004034661] |
Chr6:72290849 [GRCh38] Chr6:73000552 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.3187A>T (p.Ile1063Phe) |
single nucleotide variant |
not provided [RCV001232450]|not specified [RCV004033167] |
Chr6:72265045 [GRCh38] Chr6:72974748 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2446T>G (p.Ser816Ala) |
single nucleotide variant |
not provided [RCV001207402] |
Chr6:72250994 [GRCh38] Chr6:72960697 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.238C>T (p.Pro80Ser) |
single nucleotide variant |
not provided [RCV001207408] |
Chr6:71969056 [GRCh38] Chr6:72678759 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1228G>A (p.Gly410Ser) |
single nucleotide variant |
not provided [RCV001241108] |
Chr6:72182699 [GRCh38] Chr6:72892402 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3919G>A (p.Gly1307Arg) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001196227] |
Chr6:72307326 [GRCh38] Chr6:73017029 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1534T>C (p.Ser512Pro) |
single nucleotide variant |
not provided [RCV001212732] |
Chr6:72183005 [GRCh38] Chr6:72892708 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1214C>G (p.Pro405Arg) |
single nucleotide variant |
not provided [RCV001230843] |
Chr6:72182685 [GRCh38] Chr6:72892388 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.881C>G (p.Pro294Arg) |
single nucleotide variant |
not specified [RCV004313137] |
Chr6:72182352 [GRCh38] Chr6:72892055 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3985T>C (p.Tyr1329His) |
single nucleotide variant |
not specified [RCV004315921] |
Chr6:72313527 [GRCh38] Chr6:73023230 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4442T>C (p.Met1481Thr) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158861] |
Chr6:72390673 [GRCh38] Chr6:73100375 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4444G>A (p.Val1482Ile) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158862] |
Chr6:72390675 [GRCh38] Chr6:73100377 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*1280G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158958]|not provided [RCV004695010] |
Chr6:72401994 [GRCh38] Chr6:73111696 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*1310A>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158959] |
Chr6:72402024 [GRCh38] Chr6:73111726 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.29C>G (p.Pro10Arg) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001165364]|not provided [RCV001859061] |
Chr6:71887052 [GRCh38] Chr6:72596755 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2827C>G (p.Gln943Glu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001160102]|not provided [RCV003669208] |
Chr6:72258181 [GRCh38] Chr6:72967884 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*941T>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163890] |
Chr6:72401655 [GRCh38] Chr6:73111357 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.458A>C (p.Asn153Thr) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158635]|not provided [RCV001519164] |
Chr6:72097161 [GRCh38] Chr6:72806864 [GRCh37] Chr6:6q13 |
benign |
NC_000006.11:g.(?_72889258)_(73332335_?)del |
deletion |
not provided [RCV003105585] |
Chr6:72889258..73332335 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1679-20550G>A |
single nucleotide variant |
Autism spectrum disorder [RCV003128056] |
Chr6:72213223 [GRCh38] Chr6:72922926 [GRCh37] Chr6:6q13 |
likely pathogenic |
NM_014989.7(RIMS1):c.812+10C>T |
single nucleotide variant |
Retinal dystrophy [RCV004814158] |
Chr6:72179925 [GRCh38] Chr6:72889628 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3555-91G>A |
single nucleotide variant |
not provided [RCV001599137] |
Chr6:72290588 [GRCh38] Chr6:73000291 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3482+79A>T |
single nucleotide variant |
not provided [RCV001690685] |
Chr6:72274511 [GRCh38] Chr6:72984214 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3850+7G>A |
single nucleotide variant |
not provided [RCV001700933] |
Chr6:72292053 [GRCh38] Chr6:73001756 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.165-8C>T |
single nucleotide variant |
not provided [RCV000936536] |
Chr6:71968975 [GRCh38] Chr6:72678678 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.642G>A (p.Glu214=) |
single nucleotide variant |
not provided [RCV000925186] |
Chr6:72179745 [GRCh38] Chr6:72889448 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4455G>A (p.Pro1485=) |
single nucleotide variant |
not provided [RCV000914658] |
Chr6:72390686 [GRCh38] Chr6:73100388 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3588C>T (p.His1196=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163768]|not provided [RCV000923595] |
Chr6:72290712 [GRCh38] Chr6:73000415 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.4923C>T (p.Ile1641=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001160203]|not provided [RCV000950711] |
Chr6:72400558 [GRCh38] Chr6:73110260 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.1833C>T (p.Asp611=) |
single nucleotide variant |
not provided [RCV000906487] |
Chr6:72235704 [GRCh38] Chr6:72945407 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1678+10C>T |
single nucleotide variant |
RIMS1-related disorder [RCV003978077]|not provided [RCV000929140] |
Chr6:72183159 [GRCh38] Chr6:72892862 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.402T>C (p.Tyr134=) |
single nucleotide variant |
not provided [RCV000943531] |
Chr6:72097105 [GRCh38] Chr6:72806808 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3554+2T>C |
single nucleotide variant |
not provided [RCV001212404] |
Chr6:72284120 [GRCh38] Chr6:72993823 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1630A>G (p.Thr544Ala) |
single nucleotide variant |
not provided [RCV001242162] |
Chr6:72183101 [GRCh38] Chr6:72892804 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.423G>A (p.Ala141=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158634]|not provided [RCV001497350] |
Chr6:72097126 [GRCh38] Chr6:72806829 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1957+10C>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158741]|not provided [RCV003769760] |
Chr6:72237932 [GRCh38] Chr6:72947635 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.2241+14G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158742] |
Chr6:72248141 [GRCh38] Chr6:72957844 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3850+6C>T |
single nucleotide variant |
not provided [RCV001242536] |
Chr6:72292052 [GRCh38] Chr6:73001755 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1567G>T (p.Gly523Cys) |
single nucleotide variant |
not provided [RCV001244575] |
Chr6:72183038 [GRCh38] Chr6:72892741 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3401G>A (p.Gly1134Asp) |
single nucleotide variant |
not provided [RCV001212610] |
Chr6:72274351 [GRCh38] Chr6:72984054 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1778G>A (p.Gly593Glu) |
single nucleotide variant |
not provided [RCV001219070] |
Chr6:72235649 [GRCh38] Chr6:72945352 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2545-3C>T |
single nucleotide variant |
not provided [RCV001242880] |
Chr6:72251212 [GRCh38] Chr6:72960915 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.642G>C (p.Glu214Asp) |
single nucleotide variant |
not provided [RCV001244717] |
Chr6:72179745 [GRCh38] Chr6:72889448 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*397G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163888] |
Chr6:72401111 [GRCh38] Chr6:73110813 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.72C>G (p.Asp24Glu) |
single nucleotide variant |
not provided [RCV001239568] |
Chr6:71887095 [GRCh38] Chr6:72596798 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1297A>G (p.Thr433Ala) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163381]|not provided [RCV001228934] |
Chr6:72182768 [GRCh38] Chr6:72892471 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3249C>T (p.Ser1083=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163478]|not provided [RCV002067987] |
Chr6:72265444 [GRCh38] Chr6:72975147 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.4599C>T (p.Thr1533=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001160202]|not provided [RCV002070980] |
Chr6:72392791 [GRCh38] Chr6:73102493 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.*1690G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001160296] |
Chr6:72402404 [GRCh38] Chr6:73112106 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.436C>T (p.Arg146Cys) |
single nucleotide variant |
not provided [RCV001208744] |
Chr6:72097139 [GRCh38] Chr6:72806842 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4746G>A (p.Leu1582=) |
single nucleotide variant |
not provided [RCV001054422] |
Chr6:72398980 [GRCh38] Chr6:73108682 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4222C>G (p.Leu1408Val) |
single nucleotide variant |
not provided [RCV001054598] |
Chr6:72333691 [GRCh38] Chr6:73043394 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1956A>G (p.Ala652=) |
single nucleotide variant |
not provided [RCV001234355] |
Chr6:72237921 [GRCh38] Chr6:72947624 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1892T>C (p.Leu631Pro) |
single nucleotide variant |
not provided [RCV001057437] |
Chr6:72237857 [GRCh38] Chr6:72947560 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4067C>T (p.Ala1356Val) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001196871] |
Chr6:72313609 [GRCh38] Chr6:73023312 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.443C>T (p.Ser148Phe) |
single nucleotide variant |
not provided [RCV001227987] |
Chr6:72097146 [GRCh38] Chr6:72806849 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3069G>A (p.Leu1023=) |
single nucleotide variant |
not provided [RCV000913621] |
Chr6:72260720 [GRCh38] Chr6:72970423 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2372+9T>C |
single nucleotide variant |
not provided [RCV000911783] |
Chr6:72250469 [GRCh38] Chr6:72960172 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4050T>A (p.Ile1350=) |
single nucleotide variant |
not provided [RCV000934183] |
Chr6:72313592 [GRCh38] Chr6:73023295 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4459C>T (p.Arg1487Ter) |
single nucleotide variant |
Retinal dystrophy [RCV004814459] |
Chr6:72390690 [GRCh38] Chr6:73100392 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2626C>A (p.Pro876Thr) |
single nucleotide variant |
Retinal dystrophy [RCV004815870] |
Chr6:72251296 [GRCh38] Chr6:72960999 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.460-37C>T |
single nucleotide variant |
not provided [RCV001684602] |
Chr6:72099938 [GRCh38] Chr6:72809641 [GRCh37] Chr6:6q13 |
benign |
GRCh37/hg19 6q13(chr6:72181114-72765924)x3 |
copy number gain |
not provided [RCV001005811] |
Chr6:72181114..72765924 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2787T>G (p.Ser929Arg) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001160101] |
Chr6:72258141 [GRCh38] Chr6:72967844 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3454A>C (p.Ile1152Leu) |
single nucleotide variant |
not provided [RCV001066601] |
Chr6:72274404 [GRCh38] Chr6:72984107 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*2357C>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001161957] |
Chr6:72403071 [GRCh38] Chr6:73112773 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.954G>C (p.Arg318Ser) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163379] |
Chr6:72182425 [GRCh38] Chr6:72892128 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3308+12T>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163480]|not provided [RCV001512860] |
Chr6:72265515 [GRCh38] Chr6:72975218 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.*1134C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158956] |
Chr6:72401848 [GRCh38] Chr6:73111550 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3554+13T>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163767] |
Chr6:72284131 [GRCh38] Chr6:72993834 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3589G>A (p.Ala1197Thr) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163769]|not provided [RCV001346432]|not specified [RCV004032869] |
Chr6:72290713 [GRCh38] Chr6:73000416 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.459+12A>G |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158637]|not provided [RCV001519979] |
Chr6:72097174 [GRCh38] Chr6:72806877 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.2545-4T>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158744]|RIMS1-related disorder [RCV004731096]|not provided [RCV001477071] |
Chr6:72251211 [GRCh38] Chr6:72960914 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.647C>T (p.Ser216Leu) |
single nucleotide variant |
not provided [RCV001063734] |
Chr6:72179750 [GRCh38] Chr6:72889453 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2865T>C (p.Ser955=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001160103] |
Chr6:72258219 [GRCh38] Chr6:72967922 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2868T>C (p.Pro956=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001160104] |
Chr6:72258222 [GRCh38] Chr6:72967925 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3203T>G (p.Leu1068Arg) |
single nucleotide variant |
not provided [RCV001229086] |
Chr6:72265398 [GRCh38] Chr6:72975101 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2758G>A (p.Val920Ile) |
single nucleotide variant |
Retinitis pigmentosa [RCV001591838]|not provided [RCV001866152] |
Chr6:72252820 [GRCh38] Chr6:72962523 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1679-20565G>A |
single nucleotide variant |
not provided [RCV001693806] |
Chr6:72213208 [GRCh38] Chr6:72922911 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.2624T>C (p.Leu875Pro) |
single nucleotide variant |
not provided [RCV001066651] |
Chr6:72251294 [GRCh38] Chr6:72960997 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1987C>A (p.Pro663Thr) |
single nucleotide variant |
not provided [RCV001236597] |
Chr6:72242343 [GRCh38] Chr6:72952046 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3130C>T (p.His1044Tyr) |
single nucleotide variant |
not provided [RCV001067001] |
Chr6:72264988 [GRCh38] Chr6:72974691 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3711G>A (p.Ser1237=) |
single nucleotide variant |
not provided [RCV001067302] |
Chr6:72290835 [GRCh38] Chr6:73000538 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.1151C>T (p.Ala384Val) |
single nucleotide variant |
not provided [RCV001039290]|not specified [RCV004659300] |
Chr6:72182622 [GRCh38] Chr6:72892325 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.708C>A (p.Ser236Arg) |
single nucleotide variant |
not provided [RCV001040093] |
Chr6:72179811 [GRCh38] Chr6:72889514 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1765C>A (p.Pro589Thr) |
single nucleotide variant |
not provided [RCV001215978] |
Chr6:72235636 [GRCh38] Chr6:72945339 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3257A>C (p.His1086Pro) |
single nucleotide variant |
not provided [RCV001215979] |
Chr6:72265452 [GRCh38] Chr6:72975155 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1784G>A (p.Arg595Gln) |
single nucleotide variant |
Retinal dystrophy [RCV001074562]|not provided [RCV001862564] |
Chr6:72235655 [GRCh38] Chr6:72945358 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3694C>A (p.Leu1232Ile) |
single nucleotide variant |
not provided [RCV001230137] |
Chr6:72290818 [GRCh38] Chr6:73000521 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4668A>C (p.Glu1556Asp) |
single nucleotide variant |
not provided [RCV001236798] |
Chr6:72398298 [GRCh38] Chr6:73108000 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.460G>C (p.Glu154Gln) |
single nucleotide variant |
not provided [RCV001041879] |
Chr6:72099975 [GRCh38] Chr6:72809678 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2963G>A (p.Arg988His) |
single nucleotide variant |
not provided [RCV001205300] |
Chr6:72259021 [GRCh38] Chr6:72968724 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3923C>A (p.Ser1308Tyr) |
single nucleotide variant |
RIMS1-related disorder [RCV003908451]|not provided [RCV001231003] |
Chr6:72307330 [GRCh38] Chr6:73017033 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.1088G>T (p.Arg363Leu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163380]|Retinal dystrophy [RCV001074089]|not provided [RCV001055483]|not specified [RCV004671199] |
Chr6:72182559 [GRCh38] Chr6:72892262 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163481]|Retinal dystrophy [RCV004813757]|not provided [RCV001093178] |
Chr6:72274380 [GRCh38] Chr6:72984083 [GRCh37] Chr6:6q13 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014989.7(RIMS1):c.*189A>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163581] |
Chr6:72400903 [GRCh38] Chr6:73110605 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*202G>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163582] |
Chr6:72400916 [GRCh38] Chr6:73110618 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1405C>G (p.Pro469Ala) |
single nucleotide variant |
not provided [RCV001202891] |
Chr6:72182876 [GRCh38] Chr6:72892579 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1366C>G (p.Pro456Ala) |
single nucleotide variant |
not provided [RCV001043957] |
Chr6:72182837 [GRCh38] Chr6:72892540 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4712C>T (p.Ser1571Phe) |
single nucleotide variant |
not provided [RCV001236327] |
Chr6:72398342 [GRCh38] Chr6:73108044 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2764C>A (p.Pro922Thr) |
single nucleotide variant |
not provided [RCV001037864]|not specified [RCV004031045] |
Chr6:72252826 [GRCh38] Chr6:72962529 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3741G>T (p.Met1247Ile) |
single nucleotide variant |
not provided [RCV001230844] |
Chr6:72291937 [GRCh38] Chr6:73001640 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2896C>T (p.Arg966Cys) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001196149]|not provided [RCV002560216] |
Chr6:72258250 [GRCh38] Chr6:72967953 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4725A>G (p.Pro1575=) |
single nucleotide variant |
not provided [RCV001212065] |
Chr6:72398959 [GRCh38] Chr6:73108661 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.70G>A (p.Asp24Asn) |
single nucleotide variant |
not provided [RCV001204574] |
Chr6:71887093 [GRCh38] Chr6:72596796 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.459C>T (p.Asn153=) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158636]|not provided [RCV001369033] |
Chr6:72097162 [GRCh38] Chr6:72806865 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2242-12C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158743]|not provided [RCV002070956] |
Chr6:72250318 [GRCh38] Chr6:72960021 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.*1230A>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001158957] |
Chr6:72401944 [GRCh38] Chr6:73111646 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.826G>A (p.Gly276Arg) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001161853]|not provided [RCV001069488]|not specified [RCV004030715] |
Chr6:72182297 [GRCh38] Chr6:72892000 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.2770+2T>C |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001028030] |
Chr6:72252834 [GRCh38] Chr6:72962537 [GRCh37] Chr6:6q13 |
likely pathogenic |
NM_014989.7(RIMS1):c.1957+5dup |
duplication |
Retinal dystrophy [RCV001073871] |
Chr6:72237924..72237925 [GRCh38] Chr6:72947627..72947628 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4945T>A (p.Ser1649Thr) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001160204]|not provided [RCV001206482]|not specified [RCV004032845] |
Chr6:72400580 [GRCh38] Chr6:73110282 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.4970A>G (p.Lys1657Arg) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001160205] |
Chr6:72400605 [GRCh38] Chr6:73110307 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.*1702G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001160297] |
Chr6:72402416 [GRCh38] Chr6:73112118 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1744T>G (p.Ser582Ala) |
single nucleotide variant |
RIMS1-related disorder [RCV004757373]|Retinal dystrophy [RCV001074096]|not provided [RCV001363675] |
Chr6:72233838 [GRCh38] Chr6:72943541 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3832A>G (p.Ser1278Gly) |
single nucleotide variant |
not provided [RCV001040114] |
Chr6:72292028 [GRCh38] Chr6:73001731 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.928C>T (p.Arg310Cys) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001163378]|not provided [RCV001040651] |
Chr6:72182399 [GRCh38] Chr6:72892102 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.2077A>G (p.Ile693Val) |
single nucleotide variant |
Retinal dystrophy [RCV001075544] |
Chr6:72242433 [GRCh38] Chr6:72952136 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2890A>G (p.Lys964Glu) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001336225]|not provided [RCV001231926] |
Chr6:72258244 [GRCh38] Chr6:72967947 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.*2429G>A |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV001161958] |
Chr6:72403143 [GRCh38] Chr6:73112845 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3835G>A (p.Gly1279Ser) |
single nucleotide variant |
not provided [RCV001204529] |
Chr6:72292031 [GRCh38] Chr6:73001734 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4681C>T (p.Arg1561Ter) |
single nucleotide variant |
not specified [RCV001264557] |
Chr6:72398311 [GRCh38] Chr6:73108013 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6q13(chr6:71351541-72837211)x1 |
copy number loss |
not provided [RCV001259383] |
Chr6:71351541..72837211 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1261C>T (p.Pro421Ser) |
single nucleotide variant |
not provided [RCV001304242]|not specified [RCV004036305] |
Chr6:72182732 [GRCh38] Chr6:72892435 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2074C>T (p.Pro692Ser) |
single nucleotide variant |
not provided [RCV001350181] |
Chr6:72242430 [GRCh38] Chr6:72952133 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2993G>A (p.Arg998Gln) |
single nucleotide variant |
not provided [RCV001348581] |
Chr6:72259051 [GRCh38] Chr6:72968754 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1131G>A (p.Met377Ile) |
single nucleotide variant |
not provided [RCV001295112]|not specified [RCV004035632] |
Chr6:72182602 [GRCh38] Chr6:72892305 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4613C>A (p.Ala1538Glu) |
single nucleotide variant |
not provided [RCV001349959] |
Chr6:72392805 [GRCh38] Chr6:73102507 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3980A>G (p.Asp1327Gly) |
single nucleotide variant |
not provided [RCV001348227] |
Chr6:72313522 [GRCh38] Chr6:73023225 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3845A>G (p.Glu1282Gly) |
single nucleotide variant |
not provided [RCV001907711] |
Chr6:72292041 [GRCh38] Chr6:73001744 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.463G>A (p.Asp155Asn) |
single nucleotide variant |
not provided [RCV001324706] |
Chr6:72099978 [GRCh38] Chr6:72809681 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.721A>G (p.Arg241Gly) |
single nucleotide variant |
not provided [RCV001326714] |
Chr6:72179824 [GRCh38] Chr6:72889527 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3755G>A (p.Ser1252Asn) |
single nucleotide variant |
not provided [RCV001319040] |
Chr6:72291951 [GRCh38] Chr6:73001654 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1391_1405del (p.Leu464_Glu468del) |
deletion |
not provided [RCV001304921] |
Chr6:72182857..72182871 [GRCh38] Chr6:72892560..72892574 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1823T>C (p.Met608Thr) |
single nucleotide variant |
not provided [RCV001320039] |
Chr6:72235694 [GRCh38] Chr6:72945397 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4391G>C (p.Ser1464Thr) |
single nucleotide variant |
not provided [RCV001341403] |
Chr6:72390622 [GRCh38] Chr6:73100324 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1889G>A (p.Arg630Gln) |
single nucleotide variant |
not provided [RCV001317664] |
Chr6:72237854 [GRCh38] Chr6:72947557 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3565A>G (p.Thr1189Ala) |
single nucleotide variant |
not provided [RCV001327734] |
Chr6:72290689 [GRCh38] Chr6:73000392 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.959A>G (p.Glu320Gly) |
single nucleotide variant |
not provided [RCV001317744] |
Chr6:72182430 [GRCh38] Chr6:72892133 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.757G>C (p.Gly253Arg) |
single nucleotide variant |
not provided [RCV001320801] |
Chr6:72179860 [GRCh38] Chr6:72889563 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1891C>G (p.Leu631Val) |
single nucleotide variant |
not provided [RCV001306110] |
Chr6:72237856 [GRCh38] Chr6:72947559 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2269C>T (p.His757Tyr) |
single nucleotide variant |
not provided [RCV001339576] |
Chr6:72250357 [GRCh38] Chr6:72960060 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4460G>A (p.Arg1487Gln) |
single nucleotide variant |
not provided [RCV001314721] |
Chr6:72390691 [GRCh38] Chr6:73100393 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1250C>T (p.Ala417Val) |
single nucleotide variant |
not provided [RCV001312387] |
Chr6:72182721 [GRCh38] Chr6:72892424 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3104T>C (p.Leu1035Pro) |
single nucleotide variant |
not provided [RCV001317918] |
Chr6:72260755 [GRCh38] Chr6:72970458 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3221C>T (p.Thr1074Ile) |
single nucleotide variant |
not provided [RCV001312565]|not specified [RCV004671331] |
Chr6:72265416 [GRCh38] Chr6:72975119 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1453C>G (p.Arg485Gly) |
single nucleotide variant |
not provided [RCV001294824] |
Chr6:72182924 [GRCh38] Chr6:72892627 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2405A>G (p.Lys802Arg) |
single nucleotide variant |
not provided [RCV001318126]|not specified [RCV004034925] |
Chr6:72250953 [GRCh38] Chr6:72960656 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2771-1G>A |
single nucleotide variant |
not provided [RCV001324918] |
Chr6:72258124 [GRCh38] Chr6:72967827 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2326C>T (p.Arg776Cys) |
single nucleotide variant |
not provided [RCV001302203] |
Chr6:72250414 [GRCh38] Chr6:72960117 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.583G>A (p.Asp195Asn) |
single nucleotide variant |
not provided [RCV001342929] |
Chr6:72179686 [GRCh38] Chr6:72889389 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.211A>C (p.Arg71=) |
single nucleotide variant |
not provided [RCV001422733] |
Chr6:71969029 [GRCh38] Chr6:72678732 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3495G>A (p.Lys1165=) |
single nucleotide variant |
not provided [RCV001415124] |
Chr6:72284059 [GRCh38] Chr6:72993762 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.52C>A (p.Pro18Thr) |
single nucleotide variant |
not provided [RCV001297169] |
Chr6:71887075 [GRCh38] Chr6:72596778 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4846G>T (p.Gly1616Cys) |
single nucleotide variant |
not provided [RCV001339202] |
Chr6:72399080 [GRCh38] Chr6:73108782 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3554+4G>A |
single nucleotide variant |
not provided [RCV001327926] |
Chr6:72284122 [GRCh38] Chr6:72993825 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3851-4G>A |
single nucleotide variant |
not provided [RCV001432974] |
Chr6:72307254 [GRCh38] Chr6:73016957 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1124T>C (p.Met375Thr) |
single nucleotide variant |
not provided [RCV001338270] |
Chr6:72182595 [GRCh38] Chr6:72892298 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5020C>A (p.Arg1674=) |
single nucleotide variant |
not provided [RCV001363301] |
Chr6:72400655 [GRCh38] Chr6:73110357 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.3797G>A (p.Arg1266His) |
single nucleotide variant |
not provided [RCV001361803] |
Chr6:72291993 [GRCh38] Chr6:73001696 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5011C>A (p.Pro1671Thr) |
single nucleotide variant |
not provided [RCV001368230] |
Chr6:72400646 [GRCh38] Chr6:73110348 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1679-20587G>A |
single nucleotide variant |
RIMS1-related disorder [RCV003953683]|not provided [RCV001356408] |
Chr6:72213186 [GRCh38] Chr6:72922889 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.3959C>T (p.Ser1320Phe) |
single nucleotide variant |
RIMS1-related disorder [RCV003928859]|not provided [RCV001356663] |
Chr6:72307366 [GRCh38] Chr6:73017069 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.165-7G>A |
single nucleotide variant |
not provided [RCV001391809] |
Chr6:71968976 [GRCh38] Chr6:72678679 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3107A>G (p.His1036Arg) |
single nucleotide variant |
not provided [RCV001316425] |
Chr6:72260758 [GRCh38] Chr6:72970461 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4938C>T (p.Leu1646=) |
single nucleotide variant |
not provided [RCV001413330] |
Chr6:72400573 [GRCh38] Chr6:73110275 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.227A>T (p.Gln76Leu) |
single nucleotide variant |
not provided [RCV001298013] |
Chr6:71969045 [GRCh38] Chr6:72678748 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.649C>T (p.Arg217Trp) |
single nucleotide variant |
not provided [RCV001305972]|not specified [RCV004034079] |
Chr6:72179752 [GRCh38] Chr6:72889455 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2452G>A (p.Val818Ile) |
single nucleotide variant |
not provided [RCV001348866] |
Chr6:72251000 [GRCh38] Chr6:72960703 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.45G>A (p.Val15=) |
single nucleotide variant |
not provided [RCV001396087] |
Chr6:71887068 [GRCh38] Chr6:72596771 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1704T>G (p.Asp568Glu) |
single nucleotide variant |
not provided [RCV001362597] |
Chr6:72233798 [GRCh38] Chr6:72943501 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3946C>T (p.Arg1316Cys) |
single nucleotide variant |
not provided [RCV001362723] |
Chr6:72307353 [GRCh38] Chr6:73017056 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4860+3C>T |
single nucleotide variant |
not provided [RCV001372000] |
Chr6:72399097 [GRCh38] Chr6:73108799 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3953A>G (p.Gln1318Arg) |
single nucleotide variant |
not provided [RCV001322748] |
Chr6:72307360 [GRCh38] Chr6:73017063 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3401G>C (p.Gly1134Ala) |
single nucleotide variant |
not provided [RCV001326243] |
Chr6:72274351 [GRCh38] Chr6:72984054 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.917A>C (p.Glu306Ala) |
single nucleotide variant |
not provided [RCV001326259] |
Chr6:72182388 [GRCh38] Chr6:72892091 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.256C>G (p.Gln86Glu) |
single nucleotide variant |
not provided [RCV001343576] |
Chr6:72096959 [GRCh38] Chr6:72806662 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.905A>C (p.Glu302Ala) |
single nucleotide variant |
not provided [RCV001323883] |
Chr6:72182376 [GRCh38] Chr6:72892079 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1309A>G (p.Arg437Gly) |
single nucleotide variant |
not provided [RCV001344819] |
Chr6:72182780 [GRCh38] Chr6:72892483 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1450A>G (p.Met484Val) |
single nucleotide variant |
not provided [RCV001345796] |
Chr6:72182921 [GRCh38] Chr6:72892624 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.895C>G (p.Gln299Glu) |
single nucleotide variant |
not provided [RCV001371544] |
Chr6:72182366 [GRCh38] Chr6:72892069 [GRCh37] Chr6:6q13 |
uncertain significance |
NC_000006.11:g.(?_73016941)_(73023395_?)dup |
duplication |
not provided [RCV001365066] |
Chr6:73016941..73023395 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3048A>C (p.Gln1016His) |
single nucleotide variant |
not provided [RCV001318709] |
Chr6:72259106 [GRCh38] Chr6:72968809 [GRCh37] Chr6:6q13 |
uncertain significance |
NC_000006.11:g.(?_72974678)_(72975206_?)del |
deletion |
not provided [RCV001352143] |
Chr6:72974678..72975206 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3825A>G (p.Pro1275=) |
single nucleotide variant |
not provided [RCV001365183] |
Chr6:72292021 [GRCh38] Chr6:73001724 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3583G>A (p.Gly1195Arg) |
single nucleotide variant |
not provided [RCV001365222] |
Chr6:72290707 [GRCh38] Chr6:73000410 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1328_1329delinsCC (p.Gln443Pro) |
indel |
not provided [RCV001305692] |
Chr6:72182799..72182800 [GRCh38] Chr6:72892502..72892503 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.616A>G (p.Arg206Gly) |
single nucleotide variant |
not provided [RCV001342478] |
Chr6:72179719 [GRCh38] Chr6:72889422 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1185_1211del (p.Arg397_Pro405del) |
deletion |
not provided [RCV001361370] |
Chr6:72182650..72182676 [GRCh38] Chr6:72892353..72892379 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3713C>T (p.Ala1238Val) |
single nucleotide variant |
not provided [RCV001320658] |
Chr6:72290837 [GRCh38] Chr6:73000540 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3143T>G (p.Leu1048Ter) |
single nucleotide variant |
not provided [RCV001323250] |
Chr6:72265001 [GRCh38] Chr6:72974704 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.422C>T (p.Ala141Val) |
single nucleotide variant |
not provided [RCV001322279] |
Chr6:72097125 [GRCh38] Chr6:72806828 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.986A>G (p.Asp329Gly) |
single nucleotide variant |
not provided [RCV001347511] |
Chr6:72182457 [GRCh38] Chr6:72892160 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3895G>T (p.Val1299Leu) |
single nucleotide variant |
not provided [RCV001300809] |
Chr6:72307302 [GRCh38] Chr6:73017005 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1189C>T (p.Arg397Cys) |
single nucleotide variant |
not provided [RCV001322398] |
Chr6:72182660 [GRCh38] Chr6:72892363 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4112G>A (p.Arg1371His) |
single nucleotide variant |
not provided [RCV001349919] |
Chr6:72313654 [GRCh38] Chr6:73023357 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1096G>A (p.Val366Met) |
single nucleotide variant |
not provided [RCV001316270] |
Chr6:72182567 [GRCh38] Chr6:72892270 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2584C>A (p.Pro862Thr) |
single nucleotide variant |
not provided [RCV001298769] |
Chr6:72251254 [GRCh38] Chr6:72960957 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1360C>T (p.His454Tyr) |
single nucleotide variant |
not provided [RCV001318186] |
Chr6:72182831 [GRCh38] Chr6:72892534 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4049T>C (p.Ile1350Thr) |
single nucleotide variant |
not provided [RCV001318321] |
Chr6:72313591 [GRCh38] Chr6:73023294 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.185C>T (p.Ala62Val) |
single nucleotide variant |
not provided [RCV001298944] |
Chr6:71969003 [GRCh38] Chr6:72678706 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.308G>A (p.Arg103Gln) |
single nucleotide variant |
not provided [RCV001315446] |
Chr6:72097011 [GRCh38] Chr6:72806714 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2977C>G (p.His993Asp) |
single nucleotide variant |
not provided [RCV001366330] |
Chr6:72259035 [GRCh38] Chr6:72968738 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4331G>A (p.Arg1444Gln) |
single nucleotide variant |
not provided [RCV001314609] |
Chr6:72333800 [GRCh38] Chr6:73043503 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3482+6A>G |
single nucleotide variant |
not provided [RCV001296908] |
Chr6:72274438 [GRCh38] Chr6:72984141 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3148C>A (p.Pro1050Thr) |
single nucleotide variant |
not provided [RCV001299705] |
Chr6:72265006 [GRCh38] Chr6:72974709 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4184T>C (p.Ile1395Thr) |
single nucleotide variant |
not provided [RCV001359496] |
Chr6:72333653 [GRCh38] Chr6:73043356 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2843A>G (p.His948Arg) |
single nucleotide variant |
not provided [RCV001366677] |
Chr6:72258197 [GRCh38] Chr6:72967900 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.674C>T (p.Ala225Val) |
single nucleotide variant |
not provided [RCV001367156] |
Chr6:72179777 [GRCh38] Chr6:72889480 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3112A>G (p.Thr1038Ala) |
single nucleotide variant |
not provided [RCV001325772] |
Chr6:72260763 [GRCh38] Chr6:72970466 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5024G>A (p.Arg1675Gln) |
single nucleotide variant |
not provided [RCV001360818] |
Chr6:72400659 [GRCh38] Chr6:73110361 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4205G>C (p.Ser1402Thr) |
single nucleotide variant |
not provided [RCV001348201] |
Chr6:72333674 [GRCh38] Chr6:73043377 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1245G>A (p.Ala415=) |
single nucleotide variant |
not provided [RCV001395592] |
Chr6:72182716 [GRCh38] Chr6:72892419 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1241C>G (p.Pro414Arg) |
single nucleotide variant |
not provided [RCV001361236] |
Chr6:72182712 [GRCh38] Chr6:72892415 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3783A>T (p.Thr1261=) |
single nucleotide variant |
not provided [RCV001412870] |
Chr6:72291979 [GRCh38] Chr6:73001682 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.123C>T (p.Asp41=) |
single nucleotide variant |
not provided [RCV001421884] |
Chr6:71887146 [GRCh38] Chr6:72596849 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1757C>T (p.Thr586Met) |
single nucleotide variant |
not provided [RCV001317328] |
Chr6:72235628 [GRCh38] Chr6:72945331 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1106C>T (p.Pro369Leu) |
single nucleotide variant |
not provided [RCV001306812] |
Chr6:72182577 [GRCh38] Chr6:72892280 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1479G>T (p.Glu493Asp) |
single nucleotide variant |
not provided [RCV001355989] |
Chr6:72182950 [GRCh38] Chr6:72892653 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1807A>C (p.Asn603His) |
single nucleotide variant |
not provided [RCV001339569] |
Chr6:72235678 [GRCh38] Chr6:72945381 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1778G>C (p.Gly593Ala) |
single nucleotide variant |
not provided [RCV001317597] |
Chr6:72235649 [GRCh38] Chr6:72945352 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.13G>T (p.Val5Leu) |
single nucleotide variant |
not provided [RCV001365826] |
Chr6:71887036 [GRCh38] Chr6:72596739 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2680T>G (p.Ser894Ala) |
single nucleotide variant |
not provided [RCV001337539] |
Chr6:72251350 [GRCh38] Chr6:72961053 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4218C>T (p.Tyr1406=) |
single nucleotide variant |
not provided [RCV001450411] |
Chr6:72333687 [GRCh38] Chr6:73043390 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3837C>A (p.Gly1279=) |
single nucleotide variant |
not provided [RCV001453378] |
Chr6:72292033 [GRCh38] Chr6:73001736 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3726G>A (p.Pro1242=) |
single nucleotide variant |
not provided [RCV001485416] |
Chr6:72290850 [GRCh38] Chr6:73000553 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4827T>G (p.Val1609=) |
single nucleotide variant |
not provided [RCV001470017] |
Chr6:72399061 [GRCh38] Chr6:73108763 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.915C>G (p.Val305=) |
single nucleotide variant |
not provided [RCV001424930] |
Chr6:72182386 [GRCh38] Chr6:72892089 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3807A>G (p.Arg1269=) |
single nucleotide variant |
not provided [RCV001473562] |
Chr6:72292003 [GRCh38] Chr6:73001706 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.876C>G (p.Arg292=) |
single nucleotide variant |
RIMS1-related disorder [RCV003920980]|not provided [RCV001462633] |
Chr6:72182347 [GRCh38] Chr6:72892050 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4182C>A (p.Ser1394=) |
single nucleotide variant |
not provided [RCV001454484] |
Chr6:72333651 [GRCh38] Chr6:73043354 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1679-9A>T |
single nucleotide variant |
not provided [RCV001488741] |
Chr6:72233764 [GRCh38] Chr6:72943467 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3804A>G (p.Gly1268=) |
single nucleotide variant |
not provided [RCV001475528] |
Chr6:72292000 [GRCh38] Chr6:73001703 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3482+8T>G |
single nucleotide variant |
not provided [RCV001469140] |
Chr6:72274440 [GRCh38] Chr6:72984143 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3301C>T (p.Leu1101=) |
single nucleotide variant |
not provided [RCV001455369] |
Chr6:72265496 [GRCh38] Chr6:72975199 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2964T>C (p.Arg988=) |
single nucleotide variant |
not provided [RCV001466521] |
Chr6:72259022 [GRCh38] Chr6:72968725 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2568G>A (p.Ala856=) |
single nucleotide variant |
not provided [RCV001431455] |
Chr6:72251238 [GRCh38] Chr6:72960941 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4619-8A>C |
single nucleotide variant |
not provided [RCV001497840] |
Chr6:72398241 [GRCh38] Chr6:73107943 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1167C>G (p.Arg389=) |
single nucleotide variant |
not provided [RCV001486978] |
Chr6:72182638 [GRCh38] Chr6:72892341 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2394C>A (p.Thr798=) |
single nucleotide variant |
not provided [RCV001429001] |
Chr6:72250942 [GRCh38] Chr6:72960645 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4731C>T (p.Val1577=) |
single nucleotide variant |
not provided [RCV001474482] |
Chr6:72398965 [GRCh38] Chr6:73108667 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2082-17T>C |
single nucleotide variant |
not provided [RCV001475839] |
Chr6:72245798 [GRCh38] Chr6:72955501 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3465G>C (p.Ala1155=) |
single nucleotide variant |
not provided [RCV001521739] |
Chr6:72274415 [GRCh38] Chr6:72984118 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.4721-10C>T |
single nucleotide variant |
not provided [RCV001470742] |
Chr6:72398945 [GRCh38] Chr6:73108647 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1957+13T>A |
single nucleotide variant |
not provided [RCV001504868] |
Chr6:72237935 [GRCh38] Chr6:72947638 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.666A>T (p.Leu222=) |
single nucleotide variant |
not provided [RCV001403952] |
Chr6:72179769 [GRCh38] Chr6:72889472 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4618+10A>T |
single nucleotide variant |
not provided [RCV001492005] |
Chr6:72392820 [GRCh38] Chr6:73102522 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.13G>C (p.Val5Leu) |
single nucleotide variant |
not provided [RCV001493483] |
Chr6:71887036 [GRCh38] Chr6:72596739 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1551C>T (p.His517=) |
single nucleotide variant |
not provided [RCV001398601] |
Chr6:72183022 [GRCh38] Chr6:72892725 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4494C>T (p.Ser1498=) |
single nucleotide variant |
not provided [RCV001393748] |
Chr6:72390725 [GRCh38] Chr6:73100427 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4371G>A (p.Ser1457=) |
single nucleotide variant |
not provided [RCV001474872] |
Chr6:72390602 [GRCh38] Chr6:73100304 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1227C>T (p.Ala409=) |
single nucleotide variant |
not provided [RCV001464651] |
Chr6:72182698 [GRCh38] Chr6:72892401 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.248G>A (p.Arg83Lys) |
single nucleotide variant |
not provided [RCV001419840] |
Chr6:72096951 [GRCh38] Chr6:72806654 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2982T>C (p.His994=) |
single nucleotide variant |
not provided [RCV001403072] |
Chr6:72259040 [GRCh38] Chr6:72968743 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2694A>G (p.Leu898=) |
single nucleotide variant |
not provided [RCV001412059] |
Chr6:72251364 [GRCh38] Chr6:72961067 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.648G>T (p.Ser216=) |
single nucleotide variant |
not provided [RCV001407127] |
Chr6:72179751 [GRCh38] Chr6:72889454 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.531A>G (p.Ala177=) |
single nucleotide variant |
not provided [RCV001437448] |
Chr6:72179634 [GRCh38] Chr6:72889337 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4505+18G>A |
single nucleotide variant |
not provided [RCV001446478] |
Chr6:72390754 [GRCh38] Chr6:73100456 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.87C>T (p.Thr29=) |
single nucleotide variant |
not provided [RCV001417300] |
Chr6:71887110 [GRCh38] Chr6:72596813 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2727C>A (p.Ile909=) |
single nucleotide variant |
not provided [RCV001405252] |
Chr6:72252789 [GRCh38] Chr6:72962492 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3777A>G (p.Ala1259=) |
single nucleotide variant |
not provided [RCV001393442] |
Chr6:72291973 [GRCh38] Chr6:73001676 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1251C>A (p.Ala417=) |
single nucleotide variant |
not provided [RCV001441999] |
Chr6:72182722 [GRCh38] Chr6:72892425 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1449C>T (p.Leu483=) |
single nucleotide variant |
not provided [RCV001447266] |
Chr6:72182920 [GRCh38] Chr6:72892623 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1731A>G (p.Thr577=) |
single nucleotide variant |
not provided [RCV001437553] |
Chr6:72233825 [GRCh38] Chr6:72943528 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2034A>G (p.Glu678=) |
single nucleotide variant |
not provided [RCV001445043] |
Chr6:72242390 [GRCh38] Chr6:72952093 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1320C>A (p.Gly440=) |
single nucleotide variant |
not provided [RCV001444905] |
Chr6:72182791 [GRCh38] Chr6:72892494 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4968C>T (p.Tyr1656=) |
single nucleotide variant |
not provided [RCV001398211] |
Chr6:72400603 [GRCh38] Chr6:73110305 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1263G>T (p.Pro421=) |
single nucleotide variant |
not provided [RCV001403580] |
Chr6:72182734 [GRCh38] Chr6:72892437 [GRCh37] Chr6:6q13 |
likely benign |
NC_000006.11:g.(?_72596727)_(74363609_?)del |
deletion |
Salla disease [RCV001384240] |
Chr6:72596727..74363609 [GRCh37] Chr6:6q13 |
pathogenic |
NM_014989.7(RIMS1):c.2214C>T (p.Ala738=) |
single nucleotide variant |
not provided [RCV001447758] |
Chr6:72248100 [GRCh38] Chr6:72957803 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2290C>T (p.Leu764=) |
single nucleotide variant |
not provided [RCV001445576] |
Chr6:72250378 [GRCh38] Chr6:72960081 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1679-18T>G |
single nucleotide variant |
not provided [RCV001418239] |
Chr6:72233755 [GRCh38] Chr6:72943458 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3737+16C>T |
single nucleotide variant |
not provided [RCV001418259] |
Chr6:72290877 [GRCh38] Chr6:73000580 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3730C>G (p.Leu1244Val) |
single nucleotide variant |
not provided [RCV001409351] |
Chr6:72290854 [GRCh38] Chr6:73000557 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.812+93G>A |
single nucleotide variant |
not provided [RCV001538492] |
Chr6:72180008 [GRCh38] Chr6:72889711 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.4047C>G (p.Ala1349=) |
single nucleotide variant |
not provided [RCV001450447] |
Chr6:72313589 [GRCh38] Chr6:73023292 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.54C>A (p.Pro18=) |
single nucleotide variant |
not provided [RCV001489935] |
Chr6:71887077 [GRCh38] Chr6:72596780 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1194C>G (p.Thr398=) |
single nucleotide variant |
not provided [RCV001461492] |
Chr6:72182665 [GRCh38] Chr6:72892368 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4860+80_4860+81del |
microsatellite |
not provided [RCV001648814] |
Chr6:72399171..72399172 [GRCh38] Chr6:73108873..73108874 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3959C>A (p.Ser1320Tyr) |
single nucleotide variant |
Retinal dystrophy [RCV004815535]|not provided [RCV001502769] |
Chr6:72307366 [GRCh38] Chr6:73017069 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.246-11C>G |
single nucleotide variant |
not provided [RCV001486039] |
Chr6:72096938 [GRCh38] Chr6:72806641 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3194+8C>A |
single nucleotide variant |
not provided [RCV001457660] |
Chr6:72265060 [GRCh38] Chr6:72974763 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3308+84_3308+86del |
microsatellite |
not provided [RCV001717218] |
Chr6:72265584..72265586 [GRCh38] Chr6:72975287..72975289 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.1713G>A (p.Thr571=) |
single nucleotide variant |
not provided [RCV001458924] |
Chr6:72233807 [GRCh38] Chr6:72943510 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2739G>A (p.Glu913=) |
single nucleotide variant |
not provided [RCV001455850] |
Chr6:72252801 [GRCh38] Chr6:72962504 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4860+10_4860+13del |
deletion |
not provided [RCV001455985] |
Chr6:72399103..72399106 [GRCh38] Chr6:73108805..73108808 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2698+13C>G |
single nucleotide variant |
not provided [RCV001504853] |
Chr6:72251381 [GRCh38] Chr6:72961084 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3338G>C (p.Arg1113Thr) |
single nucleotide variant |
Retinitis pigmentosa [RCV001591839] |
Chr6:72265989 [GRCh38] Chr6:72975692 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1287G>C (p.Ser429=) |
single nucleotide variant |
not provided [RCV001426770] |
Chr6:72182758 [GRCh38] Chr6:72892461 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3116+8C>T |
single nucleotide variant |
not provided [RCV001462466] |
Chr6:72260775 [GRCh38] Chr6:72970478 [GRCh37] Chr6:6q13 |
likely benign|conflicting interpretations of pathogenicity |
NM_014989.7(RIMS1):c.3423T>C (p.Asp1141=) |
single nucleotide variant |
not provided [RCV001466997] |
Chr6:72274373 [GRCh38] Chr6:72984076 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.255T>C (p.His85=) |
single nucleotide variant |
not provided [RCV001484411] |
Chr6:72096958 [GRCh38] Chr6:72806661 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1017G>C (p.Ala339=) |
single nucleotide variant |
not provided [RCV001484420] |
Chr6:72182488 [GRCh38] Chr6:72892191 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2372+27del |
deletion |
not provided [RCV001523039] |
Chr6:72250478 [GRCh38] Chr6:72960181 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.639A>G (p.Gln213=) |
single nucleotide variant |
not provided [RCV001506147] |
Chr6:72179742 [GRCh38] Chr6:72889445 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4044C>T (p.Ser1348=) |
single nucleotide variant |
not provided [RCV001428916] |
Chr6:72313586 [GRCh38] Chr6:73023289 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2372+27dup |
duplication |
not provided [RCV001516523] |
Chr6:72250477..72250478 [GRCh38] Chr6:72960180..72960181 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3294T>C (p.Asp1098=) |
single nucleotide variant |
not provided [RCV001498649] |
Chr6:72265489 [GRCh38] Chr6:72975192 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2868T>A (p.Pro956=) |
single nucleotide variant |
not provided [RCV001452652] |
Chr6:72258222 [GRCh38] Chr6:72967925 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3834C>T (p.Ser1278=) |
single nucleotide variant |
not provided [RCV001502578] |
Chr6:72292030 [GRCh38] Chr6:73001733 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.606T>G (p.Ser202=) |
single nucleotide variant |
not provided [RCV001417712] |
Chr6:72179709 [GRCh38] Chr6:72889412 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4720+8G>A |
single nucleotide variant |
not provided [RCV001401784] |
Chr6:72398358 [GRCh38] Chr6:73108060 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.33C>A (p.Arg11=) |
single nucleotide variant |
not provided [RCV001500887] |
Chr6:71887056 [GRCh38] Chr6:72596759 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.708C>T (p.Ser236=) |
single nucleotide variant |
not provided [RCV001434815] |
Chr6:72179811 [GRCh38] Chr6:72889514 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.801T>C (p.Pro267=) |
single nucleotide variant |
not provided [RCV001427680] |
Chr6:72179904 [GRCh38] Chr6:72889607 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4959C>T (p.Ile1653=) |
single nucleotide variant |
not provided [RCV001418421] |
Chr6:72400594 [GRCh38] Chr6:73110296 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1362T>C (p.His454=) |
single nucleotide variant |
not provided [RCV001512180] |
Chr6:72182833 [GRCh38] Chr6:72892536 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.4821_4822delinsCT (p.Ser1607_Leu1608=) |
indel |
not provided [RCV001419126] |
Chr6:72399055..72399056 [GRCh38] Chr6:73108757..73108758 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.906G>A (p.Glu302=) |
single nucleotide variant |
not provided [RCV001466938] |
Chr6:72182377 [GRCh38] Chr6:72892080 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2771-11_2771-5dup |
duplication |
not provided [RCV001727362] |
Chr6:72258113..72258114 [GRCh38] Chr6:72967816..72967817 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.471+97C>A |
single nucleotide variant |
not provided [RCV001753219] |
Chr6:72100083 [GRCh38] Chr6:72809786 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1888C>T (p.Arg630Ter) |
single nucleotide variant |
Retinal dystrophy [RCV004816137] |
Chr6:72237853 [GRCh38] Chr6:72947556 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2333G>A (p.Arg778Gln) |
single nucleotide variant |
Retinal dystrophy [RCV004818611] |
Chr6:72250421 [GRCh38] Chr6:72960124 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1669A>C (p.Ser557Arg) |
single nucleotide variant |
not provided [RCV002044871] |
Chr6:72183140 [GRCh38] Chr6:72892843 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4288C>T (p.Arg1430Trp) |
single nucleotide variant |
not provided [RCV001891159] |
Chr6:72333757 [GRCh38] Chr6:73043460 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1240C>T (p.Pro414Ser) |
single nucleotide variant |
not provided [RCV001873855] |
Chr6:72182711 [GRCh38] Chr6:72892414 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1259C>T (p.Ser420Leu) |
single nucleotide variant |
not provided [RCV001949827] |
Chr6:72182730 [GRCh38] Chr6:72892433 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1432C>T (p.Pro478Ser) |
single nucleotide variant |
not provided [RCV001896400] |
Chr6:72182903 [GRCh38] Chr6:72892606 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.245C>T (p.Pro82Leu) |
single nucleotide variant |
not provided [RCV001947672] |
Chr6:71969063 [GRCh38] Chr6:72678766 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4097C>T (p.Ser1366Leu) |
single nucleotide variant |
not provided [RCV001874538] |
Chr6:72313639 [GRCh38] Chr6:73023342 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1280C>T (p.Ala427Val) |
single nucleotide variant |
not provided [RCV001874900] |
Chr6:72182751 [GRCh38] Chr6:72892454 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3089G>C (p.Arg1030Pro) |
single nucleotide variant |
not provided [RCV001945455] |
Chr6:72260740 [GRCh38] Chr6:72970443 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.542G>A (p.Gly181Glu) |
single nucleotide variant |
not provided [RCV002044687] |
Chr6:72179645 [GRCh38] Chr6:72889348 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5021G>A (p.Arg1674Gln) |
single nucleotide variant |
not provided [RCV001949884] |
Chr6:72400656 [GRCh38] Chr6:73110358 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3461A>G (p.His1154Arg) |
single nucleotide variant |
not provided [RCV001914715] |
Chr6:72274411 [GRCh38] Chr6:72984114 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1250C>A (p.Ala417Asp) |
single nucleotide variant |
not provided [RCV002023242] |
Chr6:72182721 [GRCh38] Chr6:72892424 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4073G>A (p.Arg1358His) |
single nucleotide variant |
not provided [RCV001964753] |
Chr6:72313615 [GRCh38] Chr6:73023318 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3737G>C (p.Arg1246Thr) |
single nucleotide variant |
not provided [RCV002044333] |
Chr6:72290861 [GRCh38] Chr6:73000564 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3196T>C (p.Ser1066Pro) |
single nucleotide variant |
not provided [RCV002002832] |
Chr6:72265391 [GRCh38] Chr6:72975094 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2407A>G (p.Lys803Glu) |
single nucleotide variant |
not provided [RCV001965169] |
Chr6:72250955 [GRCh38] Chr6:72960658 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1795C>T (p.Arg599Cys) |
single nucleotide variant |
not provided [RCV001913043] |
Chr6:72235666 [GRCh38] Chr6:72945369 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2870A>G (p.His957Arg) |
single nucleotide variant |
not provided [RCV001894453]|not specified [RCV004656686] |
Chr6:72258224 [GRCh38] Chr6:72967927 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.941G>T (p.Arg314Leu) |
single nucleotide variant |
not provided [RCV001971475] |
Chr6:72182412 [GRCh38] Chr6:72892115 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.709G>T (p.Ala237Ser) |
single nucleotide variant |
not provided [RCV002004607] |
Chr6:72179812 [GRCh38] Chr6:72889515 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3272C>T (p.Ser1091Leu) |
single nucleotide variant |
not provided [RCV002007050] |
Chr6:72265467 [GRCh38] Chr6:72975170 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2834G>A (p.Arg945Lys) |
single nucleotide variant |
not provided [RCV001986549]|not specified [RCV004045344] |
Chr6:72258188 [GRCh38] Chr6:72967891 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2373-6T>C |
single nucleotide variant |
not provided [RCV001988229] |
Chr6:72250915 [GRCh38] Chr6:72960618 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4782A>T (p.Arg1594Ser) |
single nucleotide variant |
not provided [RCV002045724] |
Chr6:72399016 [GRCh38] Chr6:73108718 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2381G>A (p.Ser794Asn) |
single nucleotide variant |
not provided [RCV002041213] |
Chr6:72250929 [GRCh38] Chr6:72960632 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1 |
copy number loss |
not provided [RCV001834215] |
Chr6:70165296..79920769 [GRCh37] Chr6:6q13-14.1 |
pathogenic |
NM_014989.7(RIMS1):c.3856T>A (p.Leu1286Ile) |
single nucleotide variant |
not provided [RCV001874468] |
Chr6:72307263 [GRCh38] Chr6:73016966 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1 |
copy number loss |
not provided [RCV001829197] |
Chr6:72799054..83275894 [GRCh37] Chr6:6q13-14.1 |
pathogenic |
NM_014989.7(RIMS1):c.4188G>A (p.Met1396Ile) |
single nucleotide variant |
not provided [RCV001966047] |
Chr6:72333657 [GRCh38] Chr6:73043360 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4526G>A (p.Arg1509Gln) |
single nucleotide variant |
not provided [RCV001968927] |
Chr6:72392718 [GRCh38] Chr6:73102420 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.706A>G (p.Ser236Gly) |
single nucleotide variant |
not provided [RCV001968635]|not specified [RCV004671572] |
Chr6:72179809 [GRCh38] Chr6:72889512 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.3267T>G (p.Phe1089Leu) |
single nucleotide variant |
not provided [RCV001966212] |
Chr6:72265462 [GRCh38] Chr6:72975165 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2928-8C>A |
single nucleotide variant |
not provided [RCV002039396] |
Chr6:72258978 [GRCh38] Chr6:72968681 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3142T>G (p.Leu1048Val) |
single nucleotide variant |
not provided [RCV001969192] |
Chr6:72265000 [GRCh38] Chr6:72974703 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3700C>T (p.Pro1234Ser) |
single nucleotide variant |
not provided [RCV001872106] |
Chr6:72290824 [GRCh38] Chr6:73000527 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1256_1267dup (p.Ala419_Pro422dup) |
duplication |
not provided [RCV001945401] |
Chr6:72182724..72182725 [GRCh38] Chr6:72892427..72892428 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4389A>C (p.Lys1463Asn) |
single nucleotide variant |
not provided [RCV001908111] |
Chr6:72390620 [GRCh38] Chr6:73100322 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3173G>A (p.Ser1058Asn) |
single nucleotide variant |
not provided [RCV002020749] |
Chr6:72265031 [GRCh38] Chr6:72974734 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) |
copy number gain |
not specified [RCV002053581] |
Chr6:69938252..94379210 [GRCh37] Chr6:6q12-16.1 |
pathogenic |
NM_014989.7(RIMS1):c.3122T>C (p.Leu1041Pro) |
single nucleotide variant |
not provided [RCV001945753]|not specified [RCV004044181] |
Chr6:72264980 [GRCh38] Chr6:72974683 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3791G>A (p.Ser1264Asn) |
single nucleotide variant |
not provided [RCV002042464] |
Chr6:72291987 [GRCh38] Chr6:73001690 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.898_899delinsTG (p.Pro300Cys) |
indel |
not provided [RCV002039262] |
Chr6:72182369..72182370 [GRCh38] Chr6:72892072..72892073 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1045G>A (p.Glu349Lys) |
single nucleotide variant |
not provided [RCV002041030] |
Chr6:72182516 [GRCh38] Chr6:72892219 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2114C>G (p.Pro705Arg) |
single nucleotide variant |
not provided [RCV001891994] |
Chr6:72245847 [GRCh38] Chr6:72955550 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1994C>T (p.Pro665Leu) |
single nucleotide variant |
not provided [RCV002022670] |
Chr6:72242350 [GRCh38] Chr6:72952053 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4412A>G (p.Glu1471Gly) |
single nucleotide variant |
not provided [RCV001911445] |
Chr6:72390643 [GRCh38] Chr6:73100345 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2902C>T (p.Arg968Cys) |
single nucleotide variant |
not provided [RCV001967136] |
Chr6:72258256 [GRCh38] Chr6:72967959 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4999C>A (p.Pro1667Thr) |
single nucleotide variant |
not provided [RCV002043464] |
Chr6:72400634 [GRCh38] Chr6:73110336 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2822C>T (p.Pro941Leu) |
single nucleotide variant |
not provided [RCV001986933] |
Chr6:72258176 [GRCh38] Chr6:72967879 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1687G>A (p.Asp563Asn) |
single nucleotide variant |
not provided [RCV001872934] |
Chr6:72233781 [GRCh38] Chr6:72943484 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3053+6T>A |
single nucleotide variant |
not provided [RCV002024405] |
Chr6:72259117 [GRCh38] Chr6:72968820 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3902G>A (p.Arg1301Gln) |
single nucleotide variant |
not provided [RCV001966283] |
Chr6:72307309 [GRCh38] Chr6:73017012 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1241C>T (p.Pro414Leu) |
single nucleotide variant |
not provided [RCV002020656] |
Chr6:72182712 [GRCh38] Chr6:72892415 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4007C>G (p.Ser1336Cys) |
single nucleotide variant |
not provided [RCV001895592] |
Chr6:72313549 [GRCh38] Chr6:73023252 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4111C>G (p.Arg1371Gly) |
single nucleotide variant |
not provided [RCV002020627] |
Chr6:72313653 [GRCh38] Chr6:73023356 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3737+4G>A |
single nucleotide variant |
not provided [RCV001891641] |
Chr6:72290865 [GRCh38] Chr6:73000568 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1513C>T (p.Gln505Ter) |
single nucleotide variant |
not provided [RCV001892893] |
Chr6:72182984 [GRCh38] Chr6:72892687 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3497C>A (p.Ser1166Tyr) |
single nucleotide variant |
not provided [RCV001892623] |
Chr6:72284061 [GRCh38] Chr6:72993764 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2354A>T (p.Tyr785Phe) |
single nucleotide variant |
not provided [RCV001890068] |
Chr6:72250442 [GRCh38] Chr6:72960145 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.497G>T (p.Arg166Leu) |
single nucleotide variant |
not provided [RCV001983946] |
Chr6:72179600 [GRCh38] Chr6:72889303 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1305G>C (p.Glu435Asp) |
single nucleotide variant |
not provided [RCV002042543] |
Chr6:72182776 [GRCh38] Chr6:72892479 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4158A>T (p.Arg1386Ser) |
single nucleotide variant |
not provided [RCV002003095] |
Chr6:72333627 [GRCh38] Chr6:73043330 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.724A>G (p.Ser242Gly) |
single nucleotide variant |
not provided [RCV001947462] |
Chr6:72179827 [GRCh38] Chr6:72889530 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2701T>G (p.Ser901Ala) |
single nucleotide variant |
not provided [RCV002039633]|not specified [RCV004656671] |
Chr6:72252763 [GRCh38] Chr6:72962466 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2957G>A (p.Arg986Lys) |
single nucleotide variant |
not provided [RCV001928099] |
Chr6:72259015 [GRCh38] Chr6:72968718 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3515A>G (p.Gln1172Arg) |
single nucleotide variant |
not provided [RCV001873122] |
Chr6:72284079 [GRCh38] Chr6:72993782 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.752C>A (p.Ala251Asp) |
single nucleotide variant |
not provided [RCV002008082] |
Chr6:72179855 [GRCh38] Chr6:72889558 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1664G>C (p.Ser555Thr) |
single nucleotide variant |
not provided [RCV002039615] |
Chr6:72183135 [GRCh38] Chr6:72892838 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2532A>T (p.Glu844Asp) |
single nucleotide variant |
not provided [RCV001890631] |
Chr6:72251080 [GRCh38] Chr6:72960783 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.337G>A (p.Ala113Thr) |
single nucleotide variant |
not provided [RCV001947663] |
Chr6:72097040 [GRCh38] Chr6:72806743 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1187C>T (p.Pro396Leu) |
single nucleotide variant |
not provided [RCV001890801] |
Chr6:72182658 [GRCh38] Chr6:72892361 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3410C>T (p.Ser1137Phe) |
single nucleotide variant |
not provided [RCV001927053] |
Chr6:72274360 [GRCh38] Chr6:72984063 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3746G>A (p.Arg1249Gln) |
single nucleotide variant |
not provided [RCV002023757] |
Chr6:72291942 [GRCh38] Chr6:73001645 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.110T>C (p.Met37Thr) |
single nucleotide variant |
not provided [RCV001964139] |
Chr6:71887133 [GRCh38] Chr6:72596836 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4947_4948delinsAC (p.Ser1650Arg) |
indel |
not provided [RCV001968515] |
Chr6:72400582..72400583 [GRCh38] Chr6:73110284..73110285 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.231_232delinsTT (p.His78Tyr) |
indel |
not provided [RCV001893937] |
Chr6:71969049..71969050 [GRCh38] Chr6:72678752..72678753 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2024T>C (p.Ile675Thr) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV002286434]|not provided [RCV002004604]|not specified [RCV004043920] |
Chr6:72242380 [GRCh38] Chr6:72952083 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.165-3del |
deletion |
not provided [RCV001908986] |
Chr6:71968977 [GRCh38] Chr6:72678680 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3335C>T (p.Ala1112Val) |
single nucleotide variant |
not provided [RCV001965361] |
Chr6:72265986 [GRCh38] Chr6:72975689 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3277G>A (p.Val1093Ile) |
single nucleotide variant |
not provided [RCV002002840] |
Chr6:72265472 [GRCh38] Chr6:72975175 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4088G>A (p.Ser1363Asn) |
single nucleotide variant |
not provided [RCV001870745] |
Chr6:72313630 [GRCh38] Chr6:73023333 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.197C>A (p.Ala66Asp) |
single nucleotide variant |
not provided [RCV001980362] |
Chr6:71969015 [GRCh38] Chr6:72678718 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4039G>A (p.Val1347Ile) |
single nucleotide variant |
not provided [RCV001963319] |
Chr6:72313581 [GRCh38] Chr6:73023284 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1213C>G (p.Pro405Ala) |
single nucleotide variant |
not provided [RCV002017649] |
Chr6:72182684 [GRCh38] Chr6:72892387 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1723C>G (p.Arg575Gly) |
single nucleotide variant |
not provided [RCV001944539] |
Chr6:72233817 [GRCh38] Chr6:72943520 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4054C>T (p.Arg1352Ter) |
single nucleotide variant |
not provided [RCV001942375] |
Chr6:72313596 [GRCh38] Chr6:73023299 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3619A>G (p.Ile1207Val) |
single nucleotide variant |
not provided [RCV001916761]|not specified [RCV004671529] |
Chr6:72290743 [GRCh38] Chr6:73000446 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1531C>A (p.Pro511Thr) |
single nucleotide variant |
not provided [RCV002019560] |
Chr6:72183002 [GRCh38] Chr6:72892705 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.568G>C (p.Asp190His) |
single nucleotide variant |
not provided [RCV001961985] |
Chr6:72179671 [GRCh38] Chr6:72889374 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3511A>C (p.Ile1171Leu) |
single nucleotide variant |
not provided [RCV002019644] |
Chr6:72284075 [GRCh38] Chr6:72993778 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4492A>G (p.Ser1498Gly) |
single nucleotide variant |
not provided [RCV001888637] |
Chr6:72390723 [GRCh38] Chr6:73100425 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1360C>G (p.His454Asp) |
single nucleotide variant |
not provided [RCV001941084]|not specified [RCV004042041] |
Chr6:72182831 [GRCh38] Chr6:72892534 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2873G>A (p.Arg958His) |
single nucleotide variant |
not provided [RCV002045872] |
Chr6:72258227 [GRCh38] Chr6:72967930 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1439C>G (p.Ser480Trp) |
single nucleotide variant |
not provided [RCV002000546] |
Chr6:72182910 [GRCh38] Chr6:72892613 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.646T>A (p.Ser216Thr) |
single nucleotide variant |
not provided [RCV001924579] |
Chr6:72179749 [GRCh38] Chr6:72889452 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3145C>T (p.Pro1049Ser) |
single nucleotide variant |
not provided [RCV002038270] |
Chr6:72265003 [GRCh38] Chr6:72974706 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4261G>C (p.Gly1421Arg) |
single nucleotide variant |
not provided [RCV002015053] |
Chr6:72333730 [GRCh38] Chr6:73043433 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4013A>G (p.Lys1338Arg) |
single nucleotide variant |
not provided [RCV001924911] |
Chr6:72313555 [GRCh38] Chr6:73023258 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2918C>T (p.Pro973Leu) |
single nucleotide variant |
not provided [RCV001962182] |
Chr6:72258272 [GRCh38] Chr6:72967975 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.477G>A (p.Met159Ile) |
single nucleotide variant |
not provided [RCV002000637]|not specified [RCV004042463] |
Chr6:72179580 [GRCh38] Chr6:72889283 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2657G>A (p.Arg886Lys) |
single nucleotide variant |
not provided [RCV002017512] |
Chr6:72251327 [GRCh38] Chr6:72961030 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.923G>C (p.Arg308Pro) |
single nucleotide variant |
not provided [RCV001897405] |
Chr6:72182394 [GRCh38] Chr6:72892097 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.184G>A (p.Ala62Thr) |
single nucleotide variant |
not provided [RCV002049065] |
Chr6:71969002 [GRCh38] Chr6:72678705 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1324A>C (p.Lys442Gln) |
single nucleotide variant |
not provided [RCV001956898]|not specified [RCV004044522] |
Chr6:72182795 [GRCh38] Chr6:72892498 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.949C>G (p.Arg317Gly) |
single nucleotide variant |
not provided [RCV002000704] |
Chr6:72182420 [GRCh38] Chr6:72892123 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2194C>T (p.Pro732Ser) |
single nucleotide variant |
not provided [RCV001961734] |
Chr6:72248080 [GRCh38] Chr6:72957783 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2763TCC[3] (p.Pro923dup) |
microsatellite |
not provided [RCV001888402] |
Chr6:72252824..72252825 [GRCh38] Chr6:72962527..72962528 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.13G>A (p.Val5Met) |
single nucleotide variant |
not provided [RCV002019751] |
Chr6:71887036 [GRCh38] Chr6:72596739 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3580A>G (p.Arg1194Gly) |
single nucleotide variant |
not provided [RCV001897800] |
Chr6:72290704 [GRCh38] Chr6:73000407 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3872G>A (p.Arg1291Gln) |
single nucleotide variant |
not provided [RCV001955691] |
Chr6:72307279 [GRCh38] Chr6:73016982 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5005C>T (p.Leu1669Phe) |
single nucleotide variant |
not provided [RCV002011617] |
Chr6:72400640 [GRCh38] Chr6:73110342 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.527G>A (p.Gly176Glu) |
single nucleotide variant |
not provided [RCV001953080]|not specified [RCV004043195] |
Chr6:72179630 [GRCh38] Chr6:72889333 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2051A>G (p.Gln684Arg) |
single nucleotide variant |
not provided [RCV001867327] |
Chr6:72242407 [GRCh38] Chr6:72952110 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3826G>C (p.Val1276Leu) |
single nucleotide variant |
not provided [RCV001991143] |
Chr6:72292022 [GRCh38] Chr6:73001725 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1771A>G (p.Lys591Glu) |
single nucleotide variant |
not provided [RCV001991150] |
Chr6:72235642 [GRCh38] Chr6:72945345 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5072G>A (p.Arg1691Gln) |
single nucleotide variant |
not provided [RCV001993935] |
Chr6:72400707 [GRCh38] Chr6:73110409 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2592G>T (p.Trp864Cys) |
single nucleotide variant |
not provided [RCV002031034] |
Chr6:72251262 [GRCh38] Chr6:72960965 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3116+3A>G |
single nucleotide variant |
not provided [RCV002011837] |
Chr6:72260770 [GRCh38] Chr6:72970473 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2086A>C (p.Ile696Leu) |
single nucleotide variant |
not provided [RCV001902601] |
Chr6:72245819 [GRCh38] Chr6:72955522 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.868C>G (p.Arg290Gly) |
single nucleotide variant |
not provided [RCV001957742] |
Chr6:72182339 [GRCh38] Chr6:72892042 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.179A>T (p.Asp60Val) |
single nucleotide variant |
not provided [RCV001973054] |
Chr6:71968997 [GRCh38] Chr6:72678700 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3767C>T (p.Ser1256Phe) |
single nucleotide variant |
not provided [RCV001977042] |
Chr6:72291963 [GRCh38] Chr6:73001666 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2399C>T (p.Thr800Ile) |
single nucleotide variant |
not provided [RCV001921981] |
Chr6:72250947 [GRCh38] Chr6:72960650 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3464C>A (p.Ala1155Glu) |
single nucleotide variant |
not provided [RCV001864875] |
Chr6:72274414 [GRCh38] Chr6:72984117 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4798C>T (p.Leu1600Phe) |
single nucleotide variant |
not provided [RCV002028914] |
Chr6:72399032 [GRCh38] Chr6:73108734 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1408C>T (p.Leu470Phe) |
single nucleotide variant |
not provided [RCV001974777] |
Chr6:72182879 [GRCh38] Chr6:72892582 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1038A>C (p.Arg346Ser) |
single nucleotide variant |
not provided [RCV002012398]|not specified [RCV004045369] |
Chr6:72182509 [GRCh38] Chr6:72892212 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1481C>A (p.Thr494Asn) |
single nucleotide variant |
not provided [RCV001880808] |
Chr6:72182952 [GRCh38] Chr6:72892655 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.144A>T (p.Glu48Asp) |
single nucleotide variant |
not provided [RCV002033262] |
Chr6:71887167 [GRCh38] Chr6:72596870 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1244C>T (p.Ala415Val) |
single nucleotide variant |
not provided [RCV001917673] |
Chr6:72182715 [GRCh38] Chr6:72892418 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4160G>A (p.Arg1387Gln) |
single nucleotide variant |
not provided [RCV002018812] |
Chr6:72333629 [GRCh38] Chr6:73043332 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.632G>A (p.Arg211Gln) |
single nucleotide variant |
not provided [RCV001951797] |
Chr6:72179735 [GRCh38] Chr6:72889438 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3308+20A>G |
single nucleotide variant |
not provided [RCV001974066] |
Chr6:72265523 [GRCh38] Chr6:72975226 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.3948C>T (p.Arg1316=) |
single nucleotide variant |
not provided [RCV001974073] |
Chr6:72307355 [GRCh38] Chr6:73017058 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.3949G>A (p.Glu1317Lys) |
single nucleotide variant |
not provided [RCV001931152]|not specified [RCV004044005] |
Chr6:72307356 [GRCh38] Chr6:73017059 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.32G>A (p.Arg11His) |
single nucleotide variant |
not provided [RCV001916568] |
Chr6:71887055 [GRCh38] Chr6:72596758 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2797A>G (p.Ser933Gly) |
single nucleotide variant |
not provided [RCV002046921] |
Chr6:72258151 [GRCh38] Chr6:72967854 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.164A>G (p.Lys55Arg) |
single nucleotide variant |
not provided [RCV001951933] |
Chr6:71887187 [GRCh38] Chr6:72596890 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.904G>A (p.Glu302Lys) |
single nucleotide variant |
not provided [RCV001989970] |
Chr6:72182375 [GRCh38] Chr6:72892078 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1745C>T (p.Ser582Leu) |
single nucleotide variant |
not provided [RCV001939791] |
Chr6:72233839 [GRCh38] Chr6:72943542 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2544+18A>G |
single nucleotide variant |
not provided [RCV002051063] |
Chr6:72251110 [GRCh38] Chr6:72960813 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3640C>T (p.Arg1214Cys) |
single nucleotide variant |
not provided [RCV001925805] |
Chr6:72290764 [GRCh38] Chr6:73000467 [GRCh37] Chr6:6q13 |
uncertain significance |
NC_000006.11:g.(?_72889258)_(73023395_?)del |
deletion |
not provided [RCV002012065] |
Chr6:72889258..73023395 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4295C>A (p.Ser1432Tyr) |
single nucleotide variant |
not provided [RCV001919534] |
Chr6:72333764 [GRCh38] Chr6:73043467 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2627C>G (p.Pro876Arg) |
single nucleotide variant |
not provided [RCV001904762] |
Chr6:72251297 [GRCh38] Chr6:72961000 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.948C>G (p.Ser316Arg) |
single nucleotide variant |
not provided [RCV002012105] |
Chr6:72182419 [GRCh38] Chr6:72892122 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3179A>C (p.His1060Pro) |
single nucleotide variant |
not provided [RCV002033273] |
Chr6:72265037 [GRCh38] Chr6:72974740 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.865G>A (p.Glu289Lys) |
single nucleotide variant |
not provided [RCV002031388] |
Chr6:72182336 [GRCh38] Chr6:72892039 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1100A>C (p.Lys367Thr) |
single nucleotide variant |
not provided [RCV001934580] |
Chr6:72182571 [GRCh38] Chr6:72892274 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3203T>C (p.Leu1068Pro) |
single nucleotide variant |
not provided [RCV001934591] |
Chr6:72265398 [GRCh38] Chr6:72975101 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1213C>T (p.Pro405Ser) |
single nucleotide variant |
not provided [RCV001982148] |
Chr6:72182684 [GRCh38] Chr6:72892387 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1487T>C (p.Leu496Pro) |
single nucleotide variant |
not provided [RCV001998649] |
Chr6:72182958 [GRCh38] Chr6:72892661 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.223A>C (p.Asn75His) |
single nucleotide variant |
not provided [RCV001938307]|not specified [RCV004043576] |
Chr6:71969041 [GRCh38] Chr6:72678744 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1590G>A (p.Val530=) |
single nucleotide variant |
not provided [RCV001954183] |
Chr6:72183061 [GRCh38] Chr6:72892764 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.835G>C (p.Glu279Gln) |
single nucleotide variant |
not provided [RCV001938373] |
Chr6:72182306 [GRCh38] Chr6:72892009 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3680G>A (p.Cys1227Tyr) |
single nucleotide variant |
not provided [RCV001980192]|not specified [RCV004043884] |
Chr6:72290804 [GRCh38] Chr6:73000507 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1507T>C (p.Ser503Pro) |
single nucleotide variant |
not provided [RCV001997676] |
Chr6:72182978 [GRCh38] Chr6:72892681 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2092C>T (p.Arg698Trp) |
single nucleotide variant |
not provided [RCV002017375] |
Chr6:72245825 [GRCh38] Chr6:72955528 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1729A>G (p.Thr577Ala) |
single nucleotide variant |
not provided [RCV001940002] |
Chr6:72233823 [GRCh38] Chr6:72943526 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4160G>T (p.Arg1387Leu) |
single nucleotide variant |
not provided [RCV001940424] |
Chr6:72333629 [GRCh38] Chr6:73043332 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4598C>T (p.Thr1533Ile) |
single nucleotide variant |
not provided [RCV001973836] |
Chr6:72392790 [GRCh38] Chr6:73102492 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1385C>G (p.Pro462Arg) |
single nucleotide variant |
not provided [RCV002045996] |
Chr6:72182856 [GRCh38] Chr6:72892559 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2258A>T (p.Asp753Val) |
single nucleotide variant |
not provided [RCV002049658] |
Chr6:72250346 [GRCh38] Chr6:72960049 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1678+13C>T |
single nucleotide variant |
not provided [RCV001878367] |
Chr6:72183162 [GRCh38] Chr6:72892865 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.976G>A (p.Asp326Asn) |
single nucleotide variant |
not provided [RCV001879175] |
Chr6:72182447 [GRCh38] Chr6:72892150 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4027G>A (p.Asp1343Asn) |
single nucleotide variant |
not provided [RCV002030696] |
Chr6:72313569 [GRCh38] Chr6:73023272 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3464C>T (p.Ala1155Val) |
single nucleotide variant |
not provided [RCV002026481]|not specified [RCV004046794] |
Chr6:72274414 [GRCh38] Chr6:72984117 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1681G>A (p.Asp561Asn) |
single nucleotide variant |
not provided [RCV002010820] |
Chr6:72233775 [GRCh38] Chr6:72943478 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4400A>G (p.Gln1467Arg) |
single nucleotide variant |
not provided [RCV001991972] |
Chr6:72390631 [GRCh38] Chr6:73100333 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.813-3T>C |
single nucleotide variant |
not provided [RCV001996368] |
Chr6:72182281 [GRCh38] Chr6:72891984 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3002T>C (p.Val1001Ala) |
single nucleotide variant |
not provided [RCV001996192] |
Chr6:72259060 [GRCh38] Chr6:72968763 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3697G>T (p.Val1233Phe) |
single nucleotide variant |
not provided [RCV002014588] |
Chr6:72290821 [GRCh38] Chr6:73000524 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1541C>G (p.Pro514Arg) |
single nucleotide variant |
not provided [RCV002028387]|not specified [RCV004045481] |
Chr6:72183012 [GRCh38] Chr6:72892715 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.908G>C (p.Gly303Ala) |
single nucleotide variant |
not provided [RCV001975384] |
Chr6:72182379 [GRCh38] Chr6:72892082 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.612A>G (p.Val204=) |
single nucleotide variant |
not provided [RCV002166169] |
Chr6:72179715 [GRCh38] Chr6:72889418 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2340C>A (p.Pro780=) |
single nucleotide variant |
not provided [RCV002109906] |
Chr6:72250428 [GRCh38] Chr6:72960131 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2770+8G>T |
single nucleotide variant |
not provided [RCV002167890] |
Chr6:72252840 [GRCh38] Chr6:72962543 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4130+16T>A |
single nucleotide variant |
not provided [RCV002186460] |
Chr6:72313688 [GRCh38] Chr6:73023391 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.812+10C>G |
single nucleotide variant |
not provided [RCV002187780] |
Chr6:72179925 [GRCh38] Chr6:72889628 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2751T>C (p.Gly917=) |
single nucleotide variant |
not provided [RCV002189681] |
Chr6:72252813 [GRCh38] Chr6:72962516 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3850+19T>A |
single nucleotide variant |
not provided [RCV002109286] |
Chr6:72292065 [GRCh38] Chr6:73001768 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4416A>G (p.Thr1472=) |
single nucleotide variant |
not provided [RCV002086186] |
Chr6:72390647 [GRCh38] Chr6:73100349 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1678+16C>T |
single nucleotide variant |
not provided [RCV002090596] |
Chr6:72183165 [GRCh38] Chr6:72892868 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2373-16C>T |
single nucleotide variant |
not provided [RCV002169172] |
Chr6:72250905 [GRCh38] Chr6:72960608 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3737+14G>C |
single nucleotide variant |
not provided [RCV002206114] |
Chr6:72290875 [GRCh38] Chr6:73000578 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1104G>A (p.Pro368=) |
single nucleotide variant |
not provided [RCV002206171] |
Chr6:72182575 [GRCh38] Chr6:72892278 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3308+14G>C |
single nucleotide variant |
not provided [RCV002091739] |
Chr6:72265517 [GRCh38] Chr6:72975220 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3162A>G (p.Leu1054=) |
single nucleotide variant |
not provided [RCV002147660] |
Chr6:72265020 [GRCh38] Chr6:72974723 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3482+18C>T |
single nucleotide variant |
not provided [RCV002192842] |
Chr6:72274450 [GRCh38] Chr6:72984153 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.165-13T>A |
single nucleotide variant |
not provided [RCV002149120] |
Chr6:71968970 [GRCh38] Chr6:72678673 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3555-8T>C |
single nucleotide variant |
not provided [RCV002209719] |
Chr6:72290671 [GRCh38] Chr6:73000374 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1902C>T (p.Phe634=) |
single nucleotide variant |
not provided [RCV002126823] |
Chr6:72237867 [GRCh38] Chr6:72947570 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1958-10dup |
duplication |
not provided [RCV002190930] |
Chr6:72242296..72242297 [GRCh38] Chr6:72951999..72952000 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.4618+19_4618+20del |
deletion |
not provided [RCV002124762] |
Chr6:72392821..72392822 [GRCh38] Chr6:73102523..73102524 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.1137C>G (p.Ala379=) |
single nucleotide variant |
not provided [RCV002168114] |
Chr6:72182608 [GRCh38] Chr6:72892311 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3194+17T>C |
single nucleotide variant |
not provided [RCV002148970] |
Chr6:72265069 [GRCh38] Chr6:72974772 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4008T>C (p.Ser1336=) |
single nucleotide variant |
not provided [RCV002147680] |
Chr6:72313550 [GRCh38] Chr6:73023253 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4101G>A (p.Glu1367=) |
single nucleotide variant |
not provided [RCV002072457] |
Chr6:72313643 [GRCh38] Chr6:73023346 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3525T>C (p.Thr1175=) |
single nucleotide variant |
not provided [RCV002087788] |
Chr6:72284089 [GRCh38] Chr6:72993792 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4581G>A (p.Gln1527=) |
single nucleotide variant |
not provided [RCV002125163] |
Chr6:72392773 [GRCh38] Chr6:73102475 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4359T>C (p.Ser1453=) |
single nucleotide variant |
not provided [RCV002148314] |
Chr6:72333828 [GRCh38] Chr6:73043531 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.471+18C>A |
single nucleotide variant |
not provided [RCV002086851] |
Chr6:72100004 [GRCh38] Chr6:72809707 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4860+16T>C |
single nucleotide variant |
not provided [RCV002088392] |
Chr6:72399110 [GRCh38] Chr6:73108812 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.812+13T>A |
single nucleotide variant |
not provided [RCV002168860] |
Chr6:72179928 [GRCh38] Chr6:72889631 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3363A>G (p.Arg1121=) |
single nucleotide variant |
not provided [RCV002085043] |
Chr6:72266014 [GRCh38] Chr6:72975717 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3003T>C (p.Val1001=) |
single nucleotide variant |
not provided [RCV002188768] |
Chr6:72259061 [GRCh38] Chr6:72968764 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3168G>A (p.Gln1056=) |
single nucleotide variant |
not provided [RCV002146477] |
Chr6:72265026 [GRCh38] Chr6:72974729 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2088T>A (p.Ile696=) |
single nucleotide variant |
not provided [RCV002186040] |
Chr6:72245821 [GRCh38] Chr6:72955524 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1107G>A (p.Pro369=) |
single nucleotide variant |
not provided [RCV002167006] |
Chr6:72182578 [GRCh38] Chr6:72892281 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1858-20A>T |
single nucleotide variant |
not provided [RCV002196664] |
Chr6:72237803 [GRCh38] Chr6:72947506 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1678+7G>C |
single nucleotide variant |
not provided [RCV002116463] |
Chr6:72183156 [GRCh38] Chr6:72892859 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.567G>A (p.Gln189=) |
single nucleotide variant |
not provided [RCV002193275] |
Chr6:72179670 [GRCh38] Chr6:72889373 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2242-11A>G |
single nucleotide variant |
not provided [RCV002173833] |
Chr6:72250319 [GRCh38] Chr6:72960022 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3531A>G (p.Lys1177=) |
single nucleotide variant |
not provided [RCV002193403] |
Chr6:72284095 [GRCh38] Chr6:72993798 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1335G>A (p.Thr445=) |
single nucleotide variant |
not provided [RCV002193514] |
Chr6:72182806 [GRCh38] Chr6:72892509 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1386G>T (p.Pro462=) |
single nucleotide variant |
not provided [RCV002194852] |
Chr6:72182857 [GRCh38] Chr6:72892560 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1353G>A (p.Ala451=) |
single nucleotide variant |
not provided [RCV002132738] |
Chr6:72182824 [GRCh38] Chr6:72892527 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.460-19C>T |
single nucleotide variant |
not provided [RCV002148306] |
Chr6:72099956 [GRCh38] Chr6:72809659 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1317G>A (p.Pro439=) |
single nucleotide variant |
not provided [RCV002134635] |
Chr6:72182788 [GRCh38] Chr6:72892491 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3330C>T (p.Asp1110=) |
single nucleotide variant |
not provided [RCV002149421] |
Chr6:72265981 [GRCh38] Chr6:72975684 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4710A>G (p.Lys1570=) |
single nucleotide variant |
not provided [RCV002195243] |
Chr6:72398340 [GRCh38] Chr6:73108042 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.164+19C>T |
single nucleotide variant |
not provided [RCV002171571] |
Chr6:71887206 [GRCh38] Chr6:72596909 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1679-6G>C |
single nucleotide variant |
not provided [RCV002185457] |
Chr6:72233767 [GRCh38] Chr6:72943470 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3663T>C (p.Ser1221=) |
single nucleotide variant |
not provided [RCV002150482] |
Chr6:72290787 [GRCh38] Chr6:73000490 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4590C>A (p.Gly1530=) |
single nucleotide variant |
not provided [RCV002116287] |
Chr6:72392782 [GRCh38] Chr6:73102484 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3960C>T (p.Ser1320=) |
single nucleotide variant |
not provided [RCV002150714] |
Chr6:72307367 [GRCh38] Chr6:73017070 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3072C>A (p.Pro1024=) |
single nucleotide variant |
not provided [RCV002185910] |
Chr6:72260723 [GRCh38] Chr6:72970426 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2859A>G (p.Ser953=) |
single nucleotide variant |
not provided [RCV002168192] |
Chr6:72258213 [GRCh38] Chr6:72967916 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2082-16A>G |
single nucleotide variant |
not provided [RCV002186172] |
Chr6:72245799 [GRCh38] Chr6:72955502 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1194C>T (p.Thr398=) |
single nucleotide variant |
not provided [RCV002132587] |
Chr6:72182665 [GRCh38] Chr6:72892368 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3117-15G>A |
single nucleotide variant |
not provided [RCV002172099] |
Chr6:72264960 [GRCh38] Chr6:72974663 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3714G>T (p.Ala1238=) |
single nucleotide variant |
not provided [RCV002170726] |
Chr6:72290838 [GRCh38] Chr6:73000541 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3483-7T>C |
single nucleotide variant |
not provided [RCV002149011] |
Chr6:72284040 [GRCh38] Chr6:72993743 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1353G>T (p.Ala451=) |
single nucleotide variant |
not provided [RCV002153475] |
Chr6:72182824 [GRCh38] Chr6:72892527 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.812+16C>T |
single nucleotide variant |
not provided [RCV002153480] |
Chr6:72179931 [GRCh38] Chr6:72889634 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1747-19C>T |
single nucleotide variant |
not provided [RCV002072677] |
Chr6:72235599 [GRCh38] Chr6:72945302 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3392G>A (p.Arg1131Gln) |
single nucleotide variant |
not provided [RCV002131488]|not specified [RCV004046595] |
Chr6:72266043 [GRCh38] Chr6:72975746 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.471+8T>G |
single nucleotide variant |
not provided [RCV002092729] |
Chr6:72099994 [GRCh38] Chr6:72809697 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1524G>A (p.Ser508=) |
single nucleotide variant |
not provided [RCV002212663] |
Chr6:72182995 [GRCh38] Chr6:72892698 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4367-5G>C |
single nucleotide variant |
not provided [RCV002096162] |
Chr6:72390593 [GRCh38] Chr6:73100295 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1958-18C>T |
single nucleotide variant |
not provided [RCV002215493] |
Chr6:72242296 [GRCh38] Chr6:72951999 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3798C>G (p.Arg1266=) |
single nucleotide variant |
not provided [RCV002134496] |
Chr6:72291994 [GRCh38] Chr6:73001697 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4366+14A>T |
single nucleotide variant |
not provided [RCV002149493] |
Chr6:72333849 [GRCh38] Chr6:73043552 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4773G>A (p.Lys1591=) |
single nucleotide variant |
not provided [RCV002080390] |
Chr6:72399007 [GRCh38] Chr6:73108709 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.164+18G>A |
single nucleotide variant |
not provided [RCV002193412] |
Chr6:71887205 [GRCh38] Chr6:72596908 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2859A>C (p.Ser953=) |
single nucleotide variant |
not provided [RCV002134639] |
Chr6:72258213 [GRCh38] Chr6:72967916 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2241+7A>T |
single nucleotide variant |
not provided [RCV002107384] |
Chr6:72248134 [GRCh38] Chr6:72957837 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2241+8_2241+16del |
deletion |
not provided [RCV002192344] |
Chr6:72248131..72248139 [GRCh38] Chr6:72957834..72957842 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.738G>A (p.Glu246=) |
single nucleotide variant |
not provided [RCV002131232] |
Chr6:72179841 [GRCh38] Chr6:72889544 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1548G>A (p.Pro516=) |
single nucleotide variant |
not provided [RCV002131310] |
Chr6:72183019 [GRCh38] Chr6:72892722 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.723G>A (p.Arg241=) |
single nucleotide variant |
not provided [RCV002114340] |
Chr6:72179826 [GRCh38] Chr6:72889529 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2129-20A>C |
single nucleotide variant |
not provided [RCV002114992] |
Chr6:72247995 [GRCh38] Chr6:72957698 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2928-13G>T |
single nucleotide variant |
not provided [RCV002171625] |
Chr6:72258973 [GRCh38] Chr6:72968676 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2343T>C (p.Tyr781=) |
single nucleotide variant |
not provided [RCV002218002] |
Chr6:72250431 [GRCh38] Chr6:72960134 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4428T>C (p.Ala1476=) |
single nucleotide variant |
not provided [RCV002155717] |
Chr6:72390659 [GRCh38] Chr6:73100361 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1734A>G (p.Ser578=) |
single nucleotide variant |
not provided [RCV002157345] |
Chr6:72233828 [GRCh38] Chr6:72943531 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2770+12A>G |
single nucleotide variant |
not provided [RCV002216625] |
Chr6:72252844 [GRCh38] Chr6:72962547 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.164+15G>T |
single nucleotide variant |
not provided [RCV002156147] |
Chr6:71887202 [GRCh38] Chr6:72596905 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.732G>A (p.Gly244=) |
single nucleotide variant |
not provided [RCV002156148] |
Chr6:72179835 [GRCh38] Chr6:72889538 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.813-7A>G |
single nucleotide variant |
not provided [RCV002177369] |
Chr6:72182277 [GRCh38] Chr6:72891980 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.69C>G (p.Pro23=) |
single nucleotide variant |
not provided [RCV002139681] |
Chr6:71887092 [GRCh38] Chr6:72596795 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3116+12G>A |
single nucleotide variant |
not provided [RCV002138006] |
Chr6:72260779 [GRCh38] Chr6:72970482 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1326G>A (p.Lys442=) |
single nucleotide variant |
not provided [RCV002179761] |
Chr6:72182797 [GRCh38] Chr6:72892500 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.186G>A (p.Ala62=) |
single nucleotide variant |
not provided [RCV002202615] |
Chr6:71969004 [GRCh38] Chr6:72678707 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1308C>G (p.Thr436=) |
single nucleotide variant |
not provided [RCV002082328] |
Chr6:72182779 [GRCh38] Chr6:72892482 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2988C>T (p.Ala996=) |
single nucleotide variant |
not provided [RCV002176372] |
Chr6:72259046 [GRCh38] Chr6:72968749 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2373-13A>G |
single nucleotide variant |
not provided [RCV002180517] |
Chr6:72250908 [GRCh38] Chr6:72960611 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.447A>G (p.Leu149=) |
single nucleotide variant |
not provided [RCV002144286] |
Chr6:72097150 [GRCh38] Chr6:72806853 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4525C>A (p.Arg1509=) |
single nucleotide variant |
not provided [RCV002144320] |
Chr6:72392717 [GRCh38] Chr6:73102419 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.164+14A>G |
single nucleotide variant |
not provided [RCV002140787] |
Chr6:71887201 [GRCh38] Chr6:72596904 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3399-8G>A |
single nucleotide variant |
not provided [RCV002140926] |
Chr6:72274341 [GRCh38] Chr6:72984044 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.460-17T>C |
single nucleotide variant |
not provided [RCV002220379] |
Chr6:72099958 [GRCh38] Chr6:72809661 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1958-18del |
deletion |
not provided [RCV002182925] |
Chr6:72242294 [GRCh38] Chr6:72951997 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3737+17C>G |
single nucleotide variant |
not provided [RCV002163289] |
Chr6:72290878 [GRCh38] Chr6:73000581 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.744G>A (p.Ser248=) |
single nucleotide variant |
not provided [RCV002163497] |
Chr6:72179847 [GRCh38] Chr6:72889550 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1821C>G (p.Thr607=) |
single nucleotide variant |
not provided [RCV002158440] |
Chr6:72235692 [GRCh38] Chr6:72945395 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4367-20C>A |
single nucleotide variant |
not provided [RCV002158441] |
Chr6:72390578 [GRCh38] Chr6:73100280 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4524G>T (p.Val1508=) |
single nucleotide variant |
not provided [RCV002162348] |
Chr6:72392716 [GRCh38] Chr6:73102418 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4665G>A (p.Val1555=) |
single nucleotide variant |
not provided [RCV002122522] |
Chr6:72398295 [GRCh38] Chr6:73107997 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1152C>T (p.Ala384=) |
single nucleotide variant |
not provided [RCV002082674] |
Chr6:72182623 [GRCh38] Chr6:72892326 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1958-20C>T |
single nucleotide variant |
not provided [RCV002118770] |
Chr6:72242294 [GRCh38] Chr6:72951997 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2175T>C (p.Ser725=) |
single nucleotide variant |
not provided [RCV002164495] |
Chr6:72248061 [GRCh38] Chr6:72957764 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3651G>A (p.Ser1217=) |
single nucleotide variant |
not provided [RCV002144259] |
Chr6:72290775 [GRCh38] Chr6:73000478 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1957+15T>C |
single nucleotide variant |
not provided [RCV002140580] |
Chr6:72237937 [GRCh38] Chr6:72947640 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3554+14T>G |
single nucleotide variant |
not provided [RCV002155631] |
Chr6:72284132 [GRCh38] Chr6:72993835 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1957+17T>A |
single nucleotide variant |
not provided [RCV002157613] |
Chr6:72237939 [GRCh38] Chr6:72947642 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3483-5C>T |
single nucleotide variant |
not provided [RCV002103332] |
Chr6:72284042 [GRCh38] Chr6:72993745 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3263G>A (p.Cys1088Tyr) |
single nucleotide variant |
not provided [RCV002161511] |
Chr6:72265458 [GRCh38] Chr6:72975161 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.285G>A (p.Val95=) |
single nucleotide variant |
not provided [RCV002156468] |
Chr6:72096988 [GRCh38] Chr6:72806691 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.900C>G (p.Pro300=) |
single nucleotide variant |
not provided [RCV002081838] |
Chr6:72182371 [GRCh38] Chr6:72892074 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2166T>C (p.Pro722=) |
single nucleotide variant |
not provided [RCV002161788] |
Chr6:72248052 [GRCh38] Chr6:72957755 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3053+13A>G |
single nucleotide variant |
not provided [RCV002140217] |
Chr6:72259124 [GRCh38] Chr6:72968827 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3851-20T>C |
single nucleotide variant |
not provided [RCV002119230] |
Chr6:72307238 [GRCh38] Chr6:73016941 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3482+12C>T |
single nucleotide variant |
not provided [RCV002121406] |
Chr6:72274444 [GRCh38] Chr6:72984147 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3194+20G>A |
single nucleotide variant |
not provided [RCV002154178] |
Chr6:72265072 [GRCh38] Chr6:72974775 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.435C>A (p.Gly145=) |
single nucleotide variant |
not provided [RCV002198006] |
Chr6:72097138 [GRCh38] Chr6:72806841 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3482+15_3482+16delinsGC |
indel |
not provided [RCV002143437] |
Chr6:72274447..72274448 [GRCh38] Chr6:72984150..72984151 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3117-7G>A |
single nucleotide variant |
RIMS1-related disorder [RCV003941277]|not provided [RCV002102320] |
Chr6:72264968 [GRCh38] Chr6:72974671 [GRCh37] Chr6:6q13 |
benign|likely benign |
NM_014989.7(RIMS1):c.2699-17G>T |
single nucleotide variant |
not provided [RCV002198408] |
Chr6:72252744 [GRCh38] Chr6:72962447 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4236C>T (p.Asp1412=) |
single nucleotide variant |
not provided [RCV002156758] |
Chr6:72333705 [GRCh38] Chr6:73043408 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.165-18_165-15del |
deletion |
not provided [RCV002217179] |
Chr6:71968963..71968966 [GRCh38] Chr6:72678666..72678669 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3738-15G>A |
single nucleotide variant |
not provided [RCV002184032] |
Chr6:72291919 [GRCh38] Chr6:73001622 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3851-13T>C |
single nucleotide variant |
not provided [RCV002138745] |
Chr6:72307245 [GRCh38] Chr6:73016948 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.876C>T (p.Arg292=) |
single nucleotide variant |
not provided [RCV002142529] |
Chr6:72182347 [GRCh38] Chr6:72892050 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1581G>A (p.Gln527=) |
single nucleotide variant |
not provided [RCV002122532] |
Chr6:72183052 [GRCh38] Chr6:72892755 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.164+13C>T |
single nucleotide variant |
not provided [RCV002140310] |
Chr6:71887200 [GRCh38] Chr6:72596903 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1276C>A (p.Arg426=) |
single nucleotide variant |
not provided [RCV002182724] |
Chr6:72182747 [GRCh38] Chr6:72892450 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.650G>A (p.Arg217Gln) |
single nucleotide variant |
not provided [RCV003115337] |
Chr6:72179753 [GRCh38] Chr6:72889456 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1345C>T (p.Pro449Ser) |
single nucleotide variant |
not provided [RCV003121964] |
Chr6:72182816 [GRCh38] Chr6:72892519 [GRCh37] Chr6:6q13 |
uncertain significance |
NC_000006.11:g.(?_72678666)_(72678786_?)del |
deletion |
not provided [RCV003119469] |
Chr6:72678666..72678786 [GRCh37] Chr6:6q13 |
uncertain significance |
NC_000006.11:g.(?_72984032)_(73001769_?)del |
deletion |
not provided [RCV003119470] |
Chr6:72984032..73001769 [GRCh37] Chr6:6q13 |
uncertain significance |
NC_000006.11:g.(?_72596727)_(72984155_?)dup |
duplication |
not provided [RCV003119471] |
Chr6:72596727..72984155 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.797A>G (p.Glu266Gly) |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV003148244] |
Chr6:72179900 [GRCh38] Chr6:72889603 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3929C>G (p.Ser1310Cys) |
single nucleotide variant |
not provided [RCV002296871] |
Chr6:72307336 [GRCh38] Chr6:73017039 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6q13(chr6:71105038-75200617)x1 |
copy number loss |
Autism [RCV002292213] |
Chr6:71105038..75200617 [GRCh37] Chr6:6q13 |
pathogenic |
GRCh37/hg19 6q12-14.1(chr6:64954687-79581678) |
copy number loss |
Chromosome 6q11-q14 deletion syndrome [RCV002280752] |
Chr6:64954687..79581678 [GRCh37] Chr6:6q12-14.1 |
pathogenic |
NM_014989.7(RIMS1):c.1679-20589C>T |
single nucleotide variant |
Cone-rod dystrophy 7 [RCV002472117] |
Chr6:72213184 [GRCh38] Chr6:72922887 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4898A>G (p.Lys1633Arg) |
single nucleotide variant |
not provided [RCV002303785] |
Chr6:72400533 [GRCh38] Chr6:73110235 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.311G>A (p.Arg104His) |
single nucleotide variant |
not provided [RCV002303892] |
Chr6:72097014 [GRCh38] Chr6:72806717 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2708G>T (p.Arg903Leu) |
single nucleotide variant |
not provided [RCV002303989] |
Chr6:72252770 [GRCh38] Chr6:72962473 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3434C>G (p.Pro1145Arg) |
single nucleotide variant |
not provided [RCV002303663] |
Chr6:72274384 [GRCh38] Chr6:72984087 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1549C>T (p.His517Tyr) |
single nucleotide variant |
not provided [RCV002299684]|not specified [RCV004047674] |
Chr6:72183020 [GRCh38] Chr6:72892723 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.686C>G (p.Ser229Cys) |
single nucleotide variant |
not provided [RCV002298269] |
Chr6:72179789 [GRCh38] Chr6:72889492 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1721G>A (p.Ser574Asn) |
single nucleotide variant |
not provided [RCV002296399] |
Chr6:72233815 [GRCh38] Chr6:72943518 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4196C>T (p.Thr1399Ile) |
single nucleotide variant |
not provided [RCV002303355] |
Chr6:72333665 [GRCh38] Chr6:73043368 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4103A>G (p.Gln1368Arg) |
single nucleotide variant |
not provided [RCV002295743] |
Chr6:72313645 [GRCh38] Chr6:73023348 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4700C>G (p.Pro1567Arg) |
single nucleotide variant |
not provided [RCV002301171] |
Chr6:72398330 [GRCh38] Chr6:73108032 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3752G>A (p.Arg1251Lys) |
single nucleotide variant |
not provided [RCV002991364] |
Chr6:72291948 [GRCh38] Chr6:73001651 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3963+9A>G |
single nucleotide variant |
not provided [RCV002880933] |
Chr6:72307379 [GRCh38] Chr6:73017082 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3607G>C (p.Asp1203His) |
single nucleotide variant |
not provided [RCV002726999] |
Chr6:72290731 [GRCh38] Chr6:73000434 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.623A>G (p.Lys208Arg) |
single nucleotide variant |
not provided [RCV002837738] |
Chr6:72179726 [GRCh38] Chr6:72889429 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.806G>C (p.Arg269Thr) |
single nucleotide variant |
not provided [RCV002613777] |
Chr6:72179909 [GRCh38] Chr6:72889612 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3102C>G (p.Cys1034Trp) |
single nucleotide variant |
not provided [RCV002972462] |
Chr6:72260753 [GRCh38] Chr6:72970456 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6q13(chr6:72886775-73507843)x1 |
copy number loss |
not provided [RCV002475688] |
Chr6:72886775..73507843 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.471+6A>C |
single nucleotide variant |
not provided [RCV002880470] |
Chr6:72099992 [GRCh38] Chr6:72809695 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4266A>G (p.Thr1422=) |
single nucleotide variant |
not provided [RCV002734866] |
Chr6:72333735 [GRCh38] Chr6:73043438 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2075C>T (p.Pro692Leu) |
single nucleotide variant |
not provided [RCV003034032] |
Chr6:72242431 [GRCh38] Chr6:72952134 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2327G>A (p.Arg776His) |
single nucleotide variant |
not provided [RCV003076161] |
Chr6:72250415 [GRCh38] Chr6:72960118 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.333C>G (p.Asp111Glu) |
single nucleotide variant |
not provided [RCV002690302] |
Chr6:72097036 [GRCh38] Chr6:72806739 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3053+9C>A |
single nucleotide variant |
not provided [RCV002618199] |
Chr6:72259120 [GRCh38] Chr6:72968823 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2875G>A (p.Gly959Ser) |
single nucleotide variant |
not provided [RCV002690545]|not specified [RCV004066941] |
Chr6:72258229 [GRCh38] Chr6:72967932 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2221G>A (p.Val741Ile) |
single nucleotide variant |
not provided [RCV002996767] |
Chr6:72248107 [GRCh38] Chr6:72957810 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2585C>T (p.Pro862Leu) |
single nucleotide variant |
not provided [RCV002819957] |
Chr6:72251255 [GRCh38] Chr6:72960958 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3240G>T (p.Gln1080His) |
single nucleotide variant |
not provided [RCV002975202] |
Chr6:72265435 [GRCh38] Chr6:72975138 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1024G>A (p.Glu342Lys) |
single nucleotide variant |
not specified [RCV004154735] |
Chr6:72182495 [GRCh38] Chr6:72892198 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.603C>T (p.Gly201=) |
single nucleotide variant |
not provided [RCV002838957] |
Chr6:72179706 [GRCh38] Chr6:72889409 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3117-18T>C |
single nucleotide variant |
not provided [RCV002971838] |
Chr6:72264957 [GRCh38] Chr6:72974660 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4776G>C (p.Lys1592Asn) |
single nucleotide variant |
not provided [RCV002681531] |
Chr6:72399010 [GRCh38] Chr6:73108712 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3854G>T (p.Ser1285Ile) |
single nucleotide variant |
not provided [RCV002776571] |
Chr6:72307261 [GRCh38] Chr6:73016964 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1319G>A (p.Gly440Asp) |
single nucleotide variant |
not specified [RCV004140577] |
Chr6:72182790 [GRCh38] Chr6:72892493 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.925G>A (p.Glu309Lys) |
single nucleotide variant |
not provided [RCV003033807] |
Chr6:72182396 [GRCh38] Chr6:72892099 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1031_1036dup (p.Gln345_Arg346insLysGln) |
duplication |
not provided [RCV002863726] |
Chr6:72182498..72182499 [GRCh38] Chr6:72892201..72892202 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1735C>A (p.Pro579Thr) |
single nucleotide variant |
not provided [RCV003032318] |
Chr6:72233829 [GRCh38] Chr6:72943532 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1858-19T>C |
single nucleotide variant |
not provided [RCV002617380] |
Chr6:72237804 [GRCh38] Chr6:72947507 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.581_583dup (p.Ser194_Asp195insGly) |
duplication |
not provided [RCV003015773] |
Chr6:72179683..72179684 [GRCh38] Chr6:72889386..72889387 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1491G>A (p.Arg497=) |
single nucleotide variant |
not provided [RCV002618369] |
Chr6:72182962 [GRCh38] Chr6:72892665 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1944A>G (p.Gly648=) |
single nucleotide variant |
not provided [RCV002904412] |
Chr6:72237909 [GRCh38] Chr6:72947612 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4257T>G (p.Ala1419=) |
single nucleotide variant |
not provided [RCV002996443] |
Chr6:72333726 [GRCh38] Chr6:73043429 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.888C>A (p.Thr296=) |
single nucleotide variant |
not provided [RCV002690157] |
Chr6:72182359 [GRCh38] Chr6:72892062 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.806G>A (p.Arg269Lys) |
single nucleotide variant |
not provided [RCV002731556] |
Chr6:72179909 [GRCh38] Chr6:72889612 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1845G>A (p.Leu615=) |
single nucleotide variant |
not provided [RCV002996449] |
Chr6:72235716 [GRCh38] Chr6:72945419 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.459+14G>A |
single nucleotide variant |
not provided [RCV002617603] |
Chr6:72097176 [GRCh38] Chr6:72806879 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1287G>A (p.Ser429=) |
single nucleotide variant |
not provided [RCV002794801] |
Chr6:72182758 [GRCh38] Chr6:72892461 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3054-9T>C |
single nucleotide variant |
not provided [RCV002755734] |
Chr6:72260696 [GRCh38] Chr6:72970399 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4048A>G (p.Ile1350Val) |
single nucleotide variant |
not provided [RCV002685912]|not specified [RCV004066882] |
Chr6:72313590 [GRCh38] Chr6:73023293 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1085C>T (p.Ala362Val) |
single nucleotide variant |
not provided [RCV003014812] |
Chr6:72182556 [GRCh38] Chr6:72892259 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.164+17C>G |
single nucleotide variant |
not provided [RCV002685981] |
Chr6:71887204 [GRCh38] Chr6:72596907 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4048A>C (p.Ile1350Leu) |
single nucleotide variant |
not provided [RCV003015803] |
Chr6:72313590 [GRCh38] Chr6:73023293 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2544+19A>G |
single nucleotide variant |
not provided [RCV002593161] |
Chr6:72251111 [GRCh38] Chr6:72960814 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.966G>T (p.Gly322=) |
single nucleotide variant |
not provided [RCV002825222] |
Chr6:72182437 [GRCh38] Chr6:72892140 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1190G>A (p.Arg397His) |
single nucleotide variant |
not provided [RCV003055588] |
Chr6:72182661 [GRCh38] Chr6:72892364 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1285T>G (p.Ser429Ala) |
single nucleotide variant |
not provided [RCV002571815] |
Chr6:72182756 [GRCh38] Chr6:72892459 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2379A>C (p.Lys793Asn) |
single nucleotide variant |
not provided [RCV002825563] |
Chr6:72250927 [GRCh38] Chr6:72960630 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1476G>A (p.Val492=) |
single nucleotide variant |
not provided [RCV003039609] |
Chr6:72182947 [GRCh38] Chr6:72892650 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4017A>G (p.Ser1339=) |
single nucleotide variant |
not provided [RCV002825177] |
Chr6:72313559 [GRCh38] Chr6:73023262 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1077G>A (p.Pro359=) |
single nucleotide variant |
not provided [RCV002622935] |
Chr6:72182548 [GRCh38] Chr6:72892251 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1266_1267delinsCT (p.Asp423Tyr) |
indel |
not provided [RCV003054421] |
Chr6:72182737..72182738 [GRCh38] Chr6:72892440..72892441 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3973C>T (p.His1325Tyr) |
single nucleotide variant |
not specified [RCV004170449] |
Chr6:72313515 [GRCh38] Chr6:73023218 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3851-14A>T |
single nucleotide variant |
not provided [RCV002590960] |
Chr6:72307244 [GRCh38] Chr6:73016947 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3661T>G (p.Ser1221Ala) |
single nucleotide variant |
not provided [RCV002638330]|not specified [RCV004072048] |
Chr6:72290785 [GRCh38] Chr6:73000488 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4951A>C (p.Met1651Leu) |
single nucleotide variant |
not specified [RCV004171982] |
Chr6:72400586 [GRCh38] Chr6:73110288 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3308G>A (p.Ser1103Asn) |
single nucleotide variant |
not provided [RCV002948541] |
Chr6:72265503 [GRCh38] Chr6:72975206 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.813-13T>C |
single nucleotide variant |
not provided [RCV002847304] |
Chr6:72182271 [GRCh38] Chr6:72891974 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3554+7T>C |
single nucleotide variant |
not provided [RCV003018395] |
Chr6:72284125 [GRCh38] Chr6:72993828 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1362T>G (p.His454Gln) |
single nucleotide variant |
not provided [RCV003019027] |
Chr6:72182833 [GRCh38] Chr6:72892536 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1274C>T (p.Pro425Leu) |
single nucleotide variant |
not provided [RCV002590921] |
Chr6:72182745 [GRCh38] Chr6:72892448 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2734T>C (p.Tyr912His) |
single nucleotide variant |
not provided [RCV003019835] |
Chr6:72252796 [GRCh38] Chr6:72962499 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4721-13T>C |
single nucleotide variant |
not provided [RCV002621612] |
Chr6:72398942 [GRCh38] Chr6:73108644 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.952A>G (p.Arg318Gly) |
single nucleotide variant |
not provided [RCV002621493] |
Chr6:72182423 [GRCh38] Chr6:72892126 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.717A>T (p.Pro239=) |
single nucleotide variant |
not provided [RCV002590523] |
Chr6:72179820 [GRCh38] Chr6:72889523 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.5016C>T (p.Leu1672=) |
single nucleotide variant |
not provided [RCV003036395] |
Chr6:72400651 [GRCh38] Chr6:73110353 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1679-11G>A |
single nucleotide variant |
not provided [RCV002847411] |
Chr6:72233762 [GRCh38] Chr6:72943465 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.244C>T (p.Pro82Ser) |
single nucleotide variant |
not provided [RCV002695830]|not specified [RCV004067633] |
Chr6:71969062 [GRCh38] Chr6:72678765 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.950G>A (p.Arg317Gln) |
single nucleotide variant |
not provided [RCV002800029]|not specified [RCV004064670] |
Chr6:72182421 [GRCh38] Chr6:72892124 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.690G>C (p.Gln230His) |
single nucleotide variant |
not provided [RCV002662478] |
Chr6:72179793 [GRCh38] Chr6:72889496 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4529T>C (p.Leu1510Pro) |
single nucleotide variant |
not provided [RCV002736417] |
Chr6:72392721 [GRCh38] Chr6:73102423 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4454C>T (p.Pro1485Leu) |
single nucleotide variant |
not provided [RCV002621870] |
Chr6:72390685 [GRCh38] Chr6:73100387 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1394A>C (p.Lys465Thr) |
single nucleotide variant |
not provided [RCV002999790] |
Chr6:72182865 [GRCh38] Chr6:72892568 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1566C>T (p.Gly522=) |
single nucleotide variant |
not provided [RCV002571053] |
Chr6:72183037 [GRCh38] Chr6:72892740 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2855G>A (p.Arg952His) |
single nucleotide variant |
not provided [RCV002795547] |
Chr6:72258209 [GRCh38] Chr6:72967912 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.32_33delinsAA (p.Arg11Gln) |
indel |
not provided [RCV002848347] |
Chr6:71887055..71887056 [GRCh38] Chr6:72596758..72596759 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3399-2del |
deletion |
not provided [RCV003037176] |
Chr6:72274347 [GRCh38] Chr6:72984050 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2081+15del |
deletion |
not provided [RCV002570945] |
Chr6:72242446 [GRCh38] Chr6:72952149 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.1909A>C (p.Lys637Gln) |
single nucleotide variant |
not provided [RCV002695049] |
Chr6:72237874 [GRCh38] Chr6:72947577 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3850+11A>G |
single nucleotide variant |
not provided [RCV002760408] |
Chr6:72292057 [GRCh38] Chr6:73001760 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1796G>A (p.Arg599His) |
single nucleotide variant |
not provided [RCV002639528] |
Chr6:72235667 [GRCh38] Chr6:72945370 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4055G>A (p.Arg1352Gln) |
single nucleotide variant |
not provided [RCV003081232]|not specified [RCV004071614] |
Chr6:72313597 [GRCh38] Chr6:73023300 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3089G>A (p.Arg1030Gln) |
single nucleotide variant |
not provided [RCV002913751] |
Chr6:72260740 [GRCh38] Chr6:72970443 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2915T>C (p.Val972Ala) |
single nucleotide variant |
not provided [RCV003036357] |
Chr6:72258269 [GRCh38] Chr6:72967972 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4496C>T (p.Ser1499Phe) |
single nucleotide variant |
not provided [RCV002659202] |
Chr6:72390727 [GRCh38] Chr6:73100429 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3308+7A>C |
single nucleotide variant |
not provided [RCV002948777] |
Chr6:72265510 [GRCh38] Chr6:72975213 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1738A>G (p.Ile580Val) |
single nucleotide variant |
not provided [RCV002885614] |
Chr6:72233832 [GRCh38] Chr6:72943535 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1375G>T (p.Ala459Ser) |
single nucleotide variant |
not provided [RCV002909694] |
Chr6:72182846 [GRCh38] Chr6:72892549 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2440G>A (p.Val814Ile) |
single nucleotide variant |
not provided [RCV002705397] |
Chr6:72250988 [GRCh38] Chr6:72960691 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2939A>C (p.Glu980Ala) |
single nucleotide variant |
not provided [RCV002662489] |
Chr6:72258997 [GRCh38] Chr6:72968700 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3533G>C (p.Gly1178Ala) |
single nucleotide variant |
not provided [RCV002569788] |
Chr6:72284097 [GRCh38] Chr6:72993800 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3416C>G (p.Ser1139Cys) |
single nucleotide variant |
not provided [RCV002823995] |
Chr6:72274366 [GRCh38] Chr6:72984069 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.49C>T (p.Pro17Ser) |
single nucleotide variant |
not provided [RCV002975732] |
Chr6:71887072 [GRCh38] Chr6:72596775 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4237G>A (p.Gly1413Ser) |
single nucleotide variant |
not provided [RCV003035403] |
Chr6:72333706 [GRCh38] Chr6:73043409 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1411A>C (p.Arg471=) |
single nucleotide variant |
not provided [RCV003020756] |
Chr6:72182882 [GRCh38] Chr6:72892585 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3114C>A (p.Thr1038=) |
single nucleotide variant |
not provided [RCV002659075] |
Chr6:72260765 [GRCh38] Chr6:72970468 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4861-10A>G |
single nucleotide variant |
not provided [RCV002663907] |
Chr6:72400486 [GRCh38] Chr6:73110188 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1149C>G (p.Arg383=) |
single nucleotide variant |
not provided [RCV003042424] |
Chr6:72182620 [GRCh38] Chr6:72892323 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3338G>A (p.Arg1113Lys) |
single nucleotide variant |
not provided [RCV002596701] |
Chr6:72265989 [GRCh38] Chr6:72975692 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1204G>T (p.Ala402Ser) |
single nucleotide variant |
not provided [RCV002626747] |
Chr6:72182675 [GRCh38] Chr6:72892378 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.339_341dup (p.Pro114_Thr115insPro) |
duplication |
not provided [RCV002876232] |
Chr6:72097040..72097041 [GRCh38] Chr6:72806743..72806744 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4506-14C>T |
single nucleotide variant |
not provided [RCV002791407] |
Chr6:72392684 [GRCh38] Chr6:73102386 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1703A>C (p.Asp568Ala) |
single nucleotide variant |
not provided [RCV002667710] |
Chr6:72233797 [GRCh38] Chr6:72943500 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.321C>T (p.Gly107=) |
single nucleotide variant |
not provided [RCV002895173] |
Chr6:72097024 [GRCh38] Chr6:72806727 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.246-6G>A |
single nucleotide variant |
not provided [RCV002597226] |
Chr6:72096943 [GRCh38] Chr6:72806646 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.165-11A>G |
single nucleotide variant |
not provided [RCV002643025] |
Chr6:71968972 [GRCh38] Chr6:72678675 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2919A>G (p.Pro973=) |
single nucleotide variant |
not provided [RCV003022266] |
Chr6:72258273 [GRCh38] Chr6:72967976 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2770+4C>G |
single nucleotide variant |
not provided [RCV002574144] |
Chr6:72252836 [GRCh38] Chr6:72962539 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3178C>T (p.His1060Tyr) |
single nucleotide variant |
not provided [RCV002663320] |
Chr6:72265036 [GRCh38] Chr6:72974739 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4618+11T>G |
single nucleotide variant |
not provided [RCV002710965] |
Chr6:72392821 [GRCh38] Chr6:73102523 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1044G>C (p.Glu348Asp) |
single nucleotide variant |
not provided [RCV003005765] |
Chr6:72182515 [GRCh38] Chr6:72892218 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3064A>G (p.Met1022Val) |
single nucleotide variant |
not provided [RCV002625626] |
Chr6:72260715 [GRCh38] Chr6:72970418 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4845G>T (p.Gln1615His) |
single nucleotide variant |
not provided [RCV002642658] |
Chr6:72399079 [GRCh38] Chr6:73108781 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3983A>G (p.Gln1328Arg) |
single nucleotide variant |
not provided [RCV002710569] |
Chr6:72313525 [GRCh38] Chr6:73023228 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1046A>G (p.Glu349Gly) |
single nucleotide variant |
not provided [RCV002593920] |
Chr6:72182517 [GRCh38] Chr6:72892220 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.10G>T (p.Ala4Ser) |
single nucleotide variant |
not provided [RCV002954095] |
Chr6:71887033 [GRCh38] Chr6:72596736 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2454A>G (p.Val818=) |
single nucleotide variant |
not provided [RCV002890938] |
Chr6:72251002 [GRCh38] Chr6:72960705 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1963G>C (p.Glu655Gln) |
single nucleotide variant |
not specified [RCV004148643] |
Chr6:72242319 [GRCh38] Chr6:72952022 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4452G>T (p.Gln1484His) |
single nucleotide variant |
not provided [RCV003057329] |
Chr6:72390683 [GRCh38] Chr6:73100385 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3722C>A (p.Ser1241Tyr) |
single nucleotide variant |
not provided [RCV002593762] |
Chr6:72290846 [GRCh38] Chr6:73000549 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3243C>T (p.Asp1081=) |
single nucleotide variant |
not provided [RCV002593565] |
Chr6:72265438 [GRCh38] Chr6:72975141 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.537C>G (p.Phe179Leu) |
single nucleotide variant |
not provided [RCV002791293] |
Chr6:72179640 [GRCh38] Chr6:72889343 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2675A>G (p.Glu892Gly) |
single nucleotide variant |
not provided [RCV003023277] |
Chr6:72251345 [GRCh38] Chr6:72961048 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1395A>C (p.Lys465Asn) |
single nucleotide variant |
not provided [RCV003043314] |
Chr6:72182866 [GRCh38] Chr6:72892569 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2242-15C>T |
single nucleotide variant |
not provided [RCV002593630] |
Chr6:72250315 [GRCh38] Chr6:72960018 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.384C>T (p.Cys128=) |
single nucleotide variant |
not provided [RCV002663358] |
Chr6:72097087 [GRCh38] Chr6:72806790 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3714G>A (p.Ala1238=) |
single nucleotide variant |
not provided [RCV002642972] |
Chr6:72290838 [GRCh38] Chr6:73000541 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.258A>G (p.Gln86=) |
single nucleotide variant |
not provided [RCV002872311] |
Chr6:72096961 [GRCh38] Chr6:72806664 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2927+15G>A |
single nucleotide variant |
not provided [RCV002929186] |
Chr6:72258296 [GRCh38] Chr6:72967999 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.88G>C (p.Glu30Gln) |
single nucleotide variant |
not provided [RCV002575564] |
Chr6:71887111 [GRCh38] Chr6:72596814 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.606T>C (p.Ser202=) |
single nucleotide variant |
not provided [RCV002700217] |
Chr6:72179709 [GRCh38] Chr6:72889412 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4505+17C>G |
single nucleotide variant |
not provided [RCV002872430] |
Chr6:72390753 [GRCh38] Chr6:73100455 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3482+20C>T |
single nucleotide variant |
not provided [RCV002894473] |
Chr6:72274452 [GRCh38] Chr6:72984155 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2903G>A (p.Arg968His) |
single nucleotide variant |
not provided [RCV002626730] |
Chr6:72258257 [GRCh38] Chr6:72967960 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.993G>A (p.Pro331=) |
single nucleotide variant |
not provided [RCV002701307] |
Chr6:72182464 [GRCh38] Chr6:72892167 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.460-13T>C |
single nucleotide variant |
not provided [RCV002894645] |
Chr6:72099962 [GRCh38] Chr6:72809665 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4490A>G (p.Tyr1497Cys) |
single nucleotide variant |
not provided [RCV002932428] |
Chr6:72390721 [GRCh38] Chr6:73100423 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.406C>A (p.Arg136Ser) |
single nucleotide variant |
not provided [RCV003085180] |
Chr6:72097109 [GRCh38] Chr6:72806812 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2689A>G (p.Lys897Glu) |
single nucleotide variant |
not provided [RCV003055862] |
Chr6:72251359 [GRCh38] Chr6:72961062 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.979T>A (p.Tyr327Asn) |
single nucleotide variant |
not provided [RCV002856470] |
Chr6:72182450 [GRCh38] Chr6:72892153 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3206C>T (p.Pro1069Leu) |
single nucleotide variant |
not specified [RCV004182964] |
Chr6:72265401 [GRCh38] Chr6:72975104 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1367C>G (p.Pro456Arg) |
single nucleotide variant |
not provided [RCV002601583] |
Chr6:72182838 [GRCh38] Chr6:72892541 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3626G>A (p.Gly1209Glu) |
single nucleotide variant |
not specified [RCV004092330] |
Chr6:72290750 [GRCh38] Chr6:73000453 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1127_1128delinsTA (p.Arg376Leu) |
indel |
not provided [RCV002601219] |
Chr6:72182598..72182599 [GRCh38] Chr6:72892301..72892302 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3208G>A (p.Ala1070Thr) |
single nucleotide variant |
not provided [RCV002631440] |
Chr6:72265403 [GRCh38] Chr6:72975106 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4120G>A (p.Gly1374Ser) |
single nucleotide variant |
not provided [RCV002675759]|not specified [RCV004066755] |
Chr6:72313662 [GRCh38] Chr6:73023365 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1803T>C (p.Ile601=) |
single nucleotide variant |
not provided [RCV003031238] |
Chr6:72235674 [GRCh38] Chr6:72945377 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1139G>A (p.Arg380Gln) |
single nucleotide variant |
not provided [RCV002601389] |
Chr6:72182610 [GRCh38] Chr6:72892313 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2757C>T (p.Gly919=) |
single nucleotide variant |
not provided [RCV002580699] |
Chr6:72252819 [GRCh38] Chr6:72962522 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1380A>C (p.Glu460Asp) |
single nucleotide variant |
not provided [RCV003089570] |
Chr6:72182851 [GRCh38] Chr6:72892554 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1453C>T (p.Arg485Trp) |
single nucleotide variant |
not provided [RCV002676116] |
Chr6:72182924 [GRCh38] Chr6:72892627 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4430A>C (p.Glu1477Ala) |
single nucleotide variant |
not provided [RCV002966636] |
Chr6:72390661 [GRCh38] Chr6:73100363 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1204G>C (p.Ala402Pro) |
single nucleotide variant |
not specified [RCV004157262] |
Chr6:72182675 [GRCh38] Chr6:72892378 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4310A>G (p.Lys1437Arg) |
single nucleotide variant |
not provided [RCV002646390] |
Chr6:72333779 [GRCh38] Chr6:73043482 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2433A>G (p.Gln811=) |
single nucleotide variant |
not provided [RCV003061850] |
Chr6:72250981 [GRCh38] Chr6:72960684 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3891G>C (p.Met1297Ile) |
single nucleotide variant |
not provided [RCV002716692] |
Chr6:72307298 [GRCh38] Chr6:73017001 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3399-2_3399-1del |
deletion |
not provided [RCV002597503] |
Chr6:72274347..72274348 [GRCh38] Chr6:72984050..72984051 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4367-7C>T |
single nucleotide variant |
not provided [RCV002895339] |
Chr6:72390591 [GRCh38] Chr6:73100293 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.41C>T (p.Thr14Met) |
single nucleotide variant |
not provided [RCV002630293] |
Chr6:71887064 [GRCh38] Chr6:72596767 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4264A>G (p.Thr1422Ala) |
single nucleotide variant |
not provided [RCV002672078] |
Chr6:72333733 [GRCh38] Chr6:73043436 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2082-18A>G |
single nucleotide variant |
not provided [RCV002600418] |
Chr6:72245797 [GRCh38] Chr6:72955500 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1224G>C (p.Lys408Asn) |
single nucleotide variant |
not provided [RCV002792029] |
Chr6:72182695 [GRCh38] Chr6:72892398 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3308+6A>C |
single nucleotide variant |
not provided [RCV003043713] |
Chr6:72265509 [GRCh38] Chr6:72975212 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.755T>C (p.Leu252Ser) |
single nucleotide variant |
not provided [RCV002578066] |
Chr6:72179858 [GRCh38] Chr6:72889561 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.569A>T (p.Asp190Val) |
single nucleotide variant |
not provided [RCV002581078] |
Chr6:72179672 [GRCh38] Chr6:72889375 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3117-7G>T |
single nucleotide variant |
not provided [RCV002650103] |
Chr6:72264968 [GRCh38] Chr6:72974671 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1446C>T (p.Val482=) |
single nucleotide variant |
not provided [RCV002580557] |
Chr6:72182917 [GRCh38] Chr6:72892620 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1725G>A (p.Arg575=) |
single nucleotide variant |
not provided [RCV002895780] |
Chr6:72233819 [GRCh38] Chr6:72943522 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2739G>C (p.Glu913Asp) |
single nucleotide variant |
not provided [RCV002806527] |
Chr6:72252801 [GRCh38] Chr6:72962504 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3364C>T (p.Pro1122Ser) |
single nucleotide variant |
not provided [RCV002832877] |
Chr6:72266015 [GRCh38] Chr6:72975718 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3308+5G>C |
single nucleotide variant |
not provided [RCV002631262] |
Chr6:72265508 [GRCh38] Chr6:72975211 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3670A>G (p.Arg1224Gly) |
single nucleotide variant |
not provided [RCV002580325] |
Chr6:72290794 [GRCh38] Chr6:73000497 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4481T>A (p.Ile1494Asn) |
single nucleotide variant |
not provided [RCV002597788] |
Chr6:72390712 [GRCh38] Chr6:73100414 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1958-18C>G |
single nucleotide variant |
not provided [RCV002834691] |
Chr6:72242296 [GRCh38] Chr6:72951999 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3463_3464delinsAG (p.Ala1155Arg) |
indel |
not provided [RCV003063838] |
Chr6:72274413..72274414 [GRCh38] Chr6:72984116..72984117 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1136C>T (p.Ala379Val) |
single nucleotide variant |
not provided [RCV002646265] |
Chr6:72182607 [GRCh38] Chr6:72892310 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2082-3del |
deletion |
not provided [RCV002649764] |
Chr6:72245809 [GRCh38] Chr6:72955512 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3736A>G (p.Arg1246Gly) |
single nucleotide variant |
not provided [RCV002631351] |
Chr6:72290860 [GRCh38] Chr6:73000563 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.528G>C (p.Gly176=) |
single nucleotide variant |
not provided [RCV002646060] |
Chr6:72179631 [GRCh38] Chr6:72889334 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1279dup (p.Ala427fs) |
duplication |
not provided [RCV003045927] |
Chr6:72182747..72182748 [GRCh38] Chr6:72892450..72892451 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2500G>C (p.Asp834His) |
single nucleotide variant |
not provided [RCV002630855] |
Chr6:72251048 [GRCh38] Chr6:72960751 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.138GGA[1] (p.Glu48del) |
microsatellite |
not provided [RCV003046388] |
Chr6:71887159..71887161 [GRCh38] Chr6:72596862..72596864 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2992C>T (p.Arg998Ter) |
single nucleotide variant |
not provided [RCV002715835] |
Chr6:72259050 [GRCh38] Chr6:72968753 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.943G>A (p.Glu315Lys) |
single nucleotide variant |
not provided [RCV002650723] |
Chr6:72182414 [GRCh38] Chr6:72892117 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4518T>C (p.Pro1506=) |
single nucleotide variant |
not provided [RCV003044780] |
Chr6:72392710 [GRCh38] Chr6:73102412 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1183C>A (p.Leu395Ile) |
single nucleotide variant |
not provided [RCV003028206] |
Chr6:72182654 [GRCh38] Chr6:72892357 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2927+10G>A |
single nucleotide variant |
not provided [RCV003028293] |
Chr6:72258291 [GRCh38] Chr6:72967994 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1341C>T (p.His447=) |
single nucleotide variant |
not provided [RCV003045472] |
Chr6:72182812 [GRCh38] Chr6:72892515 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4199G>A (p.Ser1400Asn) |
single nucleotide variant |
not provided [RCV003045822] |
Chr6:72333668 [GRCh38] Chr6:73043371 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1320C>T (p.Gly440=) |
single nucleotide variant |
not provided [RCV002601499] |
Chr6:72182791 [GRCh38] Chr6:72892494 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.472-16T>C |
single nucleotide variant |
not provided [RCV003010031] |
Chr6:72179559 [GRCh38] Chr6:72889262 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.190C>A (p.Pro64Thr) |
single nucleotide variant |
not provided [RCV002600846] |
Chr6:71969008 [GRCh38] Chr6:72678711 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1679-12del |
deletion |
not provided [RCV002877467] |
Chr6:72233757 [GRCh38] Chr6:72943460 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.2477G>A (p.Arg826Gln) |
single nucleotide variant |
not provided [RCV002634775] |
Chr6:72251025 [GRCh38] Chr6:72960728 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3129G>C (p.Arg1043Ser) |
single nucleotide variant |
not provided [RCV003050047] |
Chr6:72264987 [GRCh38] Chr6:72974690 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3836G>A (p.Gly1279Asp) |
single nucleotide variant |
not provided [RCV002654532] |
Chr6:72292032 [GRCh38] Chr6:73001735 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.722G>A (p.Arg241Lys) |
single nucleotide variant |
not provided [RCV002942349] |
Chr6:72179825 [GRCh38] Chr6:72889528 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.378T>A (p.Asp126Glu) |
single nucleotide variant |
not provided [RCV002725279] |
Chr6:72097081 [GRCh38] Chr6:72806784 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2545-9C>T |
single nucleotide variant |
not provided [RCV002653982] |
Chr6:72251206 [GRCh38] Chr6:72960909 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1679-12dup |
duplication |
not provided [RCV002814532] |
Chr6:72233756..72233757 [GRCh38] Chr6:72943459..72943460 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.3785C>G (p.Ser1262Trp) |
single nucleotide variant |
not provided [RCV002814934] |
Chr6:72291981 [GRCh38] Chr6:73001684 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.450G>A (p.Arg150=) |
single nucleotide variant |
not provided [RCV002604655] |
Chr6:72097153 [GRCh38] Chr6:72806856 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1066C>A (p.Arg356Ser) |
single nucleotide variant |
not provided [RCV002658351] |
Chr6:72182537 [GRCh38] Chr6:72892240 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1199C>T (p.Ala400Val) |
single nucleotide variant |
not provided [RCV002722162] |
Chr6:72182670 [GRCh38] Chr6:72892373 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1419G>C (p.Gln473His) |
single nucleotide variant |
not provided [RCV002653652]|not specified [RCV004066752] |
Chr6:72182890 [GRCh38] Chr6:72892593 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1177G>C (p.Val393Leu) |
single nucleotide variant |
not provided [RCV002721321] |
Chr6:72182648 [GRCh38] Chr6:72892351 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4797C>G (p.Thr1599=) |
single nucleotide variant |
not provided [RCV003049515] |
Chr6:72399031 [GRCh38] Chr6:73108733 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2170A>G (p.Ile724Val) |
single nucleotide variant |
not provided [RCV002604256] |
Chr6:72248056 [GRCh38] Chr6:72957759 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3947G>A (p.Arg1316His) |
single nucleotide variant |
not provided [RCV002605448] |
Chr6:72307354 [GRCh38] Chr6:73017057 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5058G>A (p.Gly1686=) |
single nucleotide variant |
not provided [RCV002605484] |
Chr6:72400693 [GRCh38] Chr6:73110395 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3974A>G (p.His1325Arg) |
single nucleotide variant |
not provided [RCV002583484] |
Chr6:72313516 [GRCh38] Chr6:73023219 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4130+14A>G |
single nucleotide variant |
not provided [RCV002654154] |
Chr6:72313686 [GRCh38] Chr6:73023389 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.469G>C (p.Val157Leu) |
single nucleotide variant |
not provided [RCV002609908] |
Chr6:72099984 [GRCh38] Chr6:72809687 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3650C>T (p.Ser1217Leu) |
single nucleotide variant |
not provided [RCV002609916] |
Chr6:72290774 [GRCh38] Chr6:73000477 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.659C>T (p.Thr220Ile) |
single nucleotide variant |
not provided [RCV003051950] |
Chr6:72179762 [GRCh38] Chr6:72889465 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3737+20C>T |
single nucleotide variant |
not provided [RCV003052548] |
Chr6:72290881 [GRCh38] Chr6:73000584 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1247C>T (p.Ala416Val) |
single nucleotide variant |
not provided [RCV003052574] |
Chr6:72182718 [GRCh38] Chr6:72892421 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2770+4C>T |
single nucleotide variant |
not provided [RCV002608698] |
Chr6:72252836 [GRCh38] Chr6:72962539 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.825A>T (p.Pro275=) |
single nucleotide variant |
not provided [RCV002589753] |
Chr6:72182296 [GRCh38] Chr6:72891999 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2544+3G>A |
single nucleotide variant |
not provided [RCV002725833] |
Chr6:72251095 [GRCh38] Chr6:72960798 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1719C>T (p.His573=) |
single nucleotide variant |
not provided [RCV002587281] |
Chr6:72233813 [GRCh38] Chr6:72943516 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.237A>G (p.Gln79=) |
single nucleotide variant |
not provided [RCV002633224] |
Chr6:71969055 [GRCh38] Chr6:72678758 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.507A>G (p.Gln169=) |
single nucleotide variant |
not provided [RCV002604753] |
Chr6:72179610 [GRCh38] Chr6:72889313 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4505+17C>T |
single nucleotide variant |
not provided [RCV002583513] |
Chr6:72390753 [GRCh38] Chr6:73100455 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2464G>A (p.Asp822Asn) |
single nucleotide variant |
not provided [RCV002613255] |
Chr6:72251012 [GRCh38] Chr6:72960715 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.460-6C>T |
single nucleotide variant |
not provided [RCV002609907] |
Chr6:72099969 [GRCh38] Chr6:72809672 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3667A>G (p.Ile1223Val) |
single nucleotide variant |
not provided [RCV002589661]|not specified [RCV004064631] |
Chr6:72290791 [GRCh38] Chr6:73000494 [GRCh37] Chr6:6q13 |
likely benign|uncertain significance |
NM_014989.7(RIMS1):c.3295G>A (p.Glu1099Lys) |
single nucleotide variant |
not provided [RCV002634535] |
Chr6:72265490 [GRCh38] Chr6:72975193 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2699-19_2699-18del |
deletion |
not provided [RCV003049632] |
Chr6:72252741..72252742 [GRCh38] Chr6:72962444..72962445 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2128+16C>T |
single nucleotide variant |
not provided [RCV002676831] |
Chr6:72245877 [GRCh38] Chr6:72955580 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1334C>G (p.Thr445Arg) |
single nucleotide variant |
not provided [RCV002590240] |
Chr6:72182805 [GRCh38] Chr6:72892508 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3257A>G (p.His1086Arg) |
single nucleotide variant |
not specified [RCV004251039] |
Chr6:72265452 [GRCh38] Chr6:72975155 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3909G>T (p.Lys1303Asn) |
single nucleotide variant |
not specified [RCV004278559] |
Chr6:72307316 [GRCh38] Chr6:73017019 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.26G>T (p.Gly9Val) |
single nucleotide variant |
not specified [RCV004270972] |
Chr6:71887049 [GRCh38] Chr6:72596752 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2872C>A (p.Arg958Ser) |
single nucleotide variant |
not specified [RCV004353954] |
Chr6:72258226 [GRCh38] Chr6:72967929 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3796C>T (p.Arg1266Cys) |
single nucleotide variant |
not provided [RCV003873625] |
Chr6:72291992 [GRCh38] Chr6:73001695 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2545-7C>T |
single nucleotide variant |
not provided [RCV003571841] |
Chr6:72251208 [GRCh38] Chr6:72960911 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1252A>G (p.Arg418Gly) |
single nucleotide variant |
not provided [RCV003570101] |
Chr6:72182723 [GRCh38] Chr6:72892426 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4250A>T (p.Asp1417Val) |
single nucleotide variant |
not provided [RCV003428873] |
Chr6:72333719 [GRCh38] Chr6:73043422 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3935A>G (p.Gln1312Arg) |
single nucleotide variant |
not provided [RCV003428872] |
Chr6:72307342 [GRCh38] Chr6:73017045 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4251C>T (p.Asp1417=) |
single nucleotide variant |
not provided [RCV003431902] |
Chr6:72333720 [GRCh38] Chr6:73043423 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3478G>T (p.Asp1160Tyr) |
single nucleotide variant |
not provided [RCV003428871] |
Chr6:72274428 [GRCh38] Chr6:72984131 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1483A>C (p.Met495Leu) |
single nucleotide variant |
not provided [RCV003691893] |
Chr6:72182954 [GRCh38] Chr6:72892657 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2236C>T (p.Leu746Phe) |
single nucleotide variant |
not provided [RCV003544438] |
Chr6:72248122 [GRCh38] Chr6:72957825 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3116+17G>A |
single nucleotide variant |
not provided [RCV003546359] |
Chr6:72260784 [GRCh38] Chr6:72970487 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2515C>A (p.Gln839Lys) |
single nucleotide variant |
not provided [RCV003878655]|not specified [RCV004661808] |
Chr6:72251063 [GRCh38] Chr6:72960766 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2328T>C (p.Arg776=) |
single nucleotide variant |
not provided [RCV003739811] |
Chr6:72250416 [GRCh38] Chr6:72960119 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1314G>A (p.Ala438=) |
single nucleotide variant |
not provided [RCV003831646] |
Chr6:72182785 [GRCh38] Chr6:72892488 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2155A>G (p.Met719Val) |
single nucleotide variant |
not provided [RCV003828873] |
Chr6:72248041 [GRCh38] Chr6:72957744 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.319G>A (p.Gly107Ser) |
single nucleotide variant |
not provided [RCV003831384] |
Chr6:72097022 [GRCh38] Chr6:72806725 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1700T>G (p.Leu567Trp) |
single nucleotide variant |
not provided [RCV003696681] |
Chr6:72233794 [GRCh38] Chr6:72943497 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3737+6T>A |
single nucleotide variant |
not provided [RCV003880918] |
Chr6:72290867 [GRCh38] Chr6:73000570 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3268A>G (p.Asn1090Asp) |
single nucleotide variant |
not provided [RCV003694787] |
Chr6:72265463 [GRCh38] Chr6:72975166 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3833G>A (p.Ser1278Asn) |
single nucleotide variant |
not provided [RCV003830513] |
Chr6:72292029 [GRCh38] Chr6:73001732 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4268T>G (p.Val1423Gly) |
single nucleotide variant |
not provided [RCV003824685] |
Chr6:72333737 [GRCh38] Chr6:73043440 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1656G>A (p.Glu552=) |
single nucleotide variant |
not provided [RCV003715302] |
Chr6:72183127 [GRCh38] Chr6:72892830 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4175G>A (p.Gly1392Glu) |
single nucleotide variant |
not provided [RCV003577454] |
Chr6:72333644 [GRCh38] Chr6:73043347 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4720+10A>G |
single nucleotide variant |
not provided [RCV003716172] |
Chr6:72398360 [GRCh38] Chr6:73108062 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4130+10C>A |
single nucleotide variant |
not provided [RCV003694823] |
Chr6:72313682 [GRCh38] Chr6:73023385 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1319G>T (p.Gly440Val) |
single nucleotide variant |
not provided [RCV003690125] |
Chr6:72182790 [GRCh38] Chr6:72892493 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1494C>T (p.Asn498=) |
single nucleotide variant |
not provided [RCV003660102] |
Chr6:72182965 [GRCh38] Chr6:72892668 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3965A>G (p.Tyr1322Cys) |
single nucleotide variant |
not provided [RCV003573662] |
Chr6:72313507 [GRCh38] Chr6:73023210 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1219G>A (p.Gly407Ser) |
single nucleotide variant |
not provided [RCV003875828] |
Chr6:72182690 [GRCh38] Chr6:72892393 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.366A>G (p.Thr122=) |
single nucleotide variant |
not provided [RCV003662185] |
Chr6:72097069 [GRCh38] Chr6:72806772 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2698+13C>T |
single nucleotide variant |
not provided [RCV003575205] |
Chr6:72251381 [GRCh38] Chr6:72961084 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3194+10C>G |
single nucleotide variant |
not provided [RCV003547750] |
Chr6:72265062 [GRCh38] Chr6:72974765 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2128+16C>A |
single nucleotide variant |
not provided [RCV003714716] |
Chr6:72245877 [GRCh38] Chr6:72955580 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3483-16A>G |
single nucleotide variant |
not provided [RCV003661687] |
Chr6:72284031 [GRCh38] Chr6:72993734 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.846C>T (p.Gly282=) |
single nucleotide variant |
not provided [RCV003544977] |
Chr6:72182317 [GRCh38] Chr6:72892020 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.101A>G (p.Asn34Ser) |
single nucleotide variant |
not provided [RCV003662245] |
Chr6:71887124 [GRCh38] Chr6:72596827 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.164+20G>A |
single nucleotide variant |
not provided [RCV003715565] |
Chr6:71887207 [GRCh38] Chr6:72596910 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4618+9C>G |
single nucleotide variant |
not provided [RCV003663523] |
Chr6:72392819 [GRCh38] Chr6:73102521 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.5020C>T (p.Arg1674Trp) |
single nucleotide variant |
not provided [RCV003697821] |
Chr6:72400655 [GRCh38] Chr6:73110357 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1346C>T (p.Pro449Leu) |
single nucleotide variant |
not provided [RCV003718092]|not specified [RCV004374083] |
Chr6:72182817 [GRCh38] Chr6:72892520 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3414C>A (p.Pro1138=) |
single nucleotide variant |
not provided [RCV003836017] |
Chr6:72274364 [GRCh38] Chr6:72984067 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2933T>C (p.Leu978Ser) |
single nucleotide variant |
not provided [RCV003548483] |
Chr6:72258991 [GRCh38] Chr6:72968694 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1691A>T (p.Tyr564Phe) |
single nucleotide variant |
not provided [RCV003669661] |
Chr6:72233785 [GRCh38] Chr6:72943488 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3472G>T (p.Glu1158Ter) |
single nucleotide variant |
not provided [RCV003579736] |
Chr6:72274422 [GRCh38] Chr6:72984125 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.481G>C (p.Val161Leu) |
single nucleotide variant |
not provided [RCV003580827] |
Chr6:72179584 [GRCh38] Chr6:72889287 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3964-3T>C |
single nucleotide variant |
not provided [RCV003673362] |
Chr6:72313503 [GRCh38] Chr6:73023206 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4130+6T>C |
single nucleotide variant |
not provided [RCV003670385] |
Chr6:72313678 [GRCh38] Chr6:73023381 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4029T>C (p.Asp1343=) |
single nucleotide variant |
not provided [RCV003671362] |
Chr6:72313571 [GRCh38] Chr6:73023274 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2242-14C>T |
single nucleotide variant |
not provided [RCV003837400] |
Chr6:72250316 [GRCh38] Chr6:72960019 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2545-5C>G |
single nucleotide variant |
not provided [RCV003667776] |
Chr6:72251210 [GRCh38] Chr6:72960913 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1678+20C>T |
single nucleotide variant |
not provided [RCV003659218] |
Chr6:72183169 [GRCh38] Chr6:72892872 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4341A>G (p.Arg1447=) |
single nucleotide variant |
not provided [RCV003854811] |
Chr6:72333810 [GRCh38] Chr6:73043513 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1243_1257dup (p.Ala419_Ser420insAlaAlaAlaArgAla) |
duplication |
not provided [RCV003561646] |
Chr6:72182713..72182714 [GRCh38] Chr6:72892416..72892417 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1161G>C (p.Glu387Asp) |
single nucleotide variant |
not provided [RCV003673493] |
Chr6:72182632 [GRCh38] Chr6:72892335 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2771-13G>A |
single nucleotide variant |
not provided [RCV003855873] |
Chr6:72258112 [GRCh38] Chr6:72967815 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2731G>A (p.Asp911Asn) |
single nucleotide variant |
not provided [RCV003723503] |
Chr6:72252793 [GRCh38] Chr6:72962496 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.5045A>G (p.Glu1682Gly) |
single nucleotide variant |
not provided [RCV003667014] |
Chr6:72400680 [GRCh38] Chr6:73110382 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.851G>C (p.Gly284Ala) |
single nucleotide variant |
not provided [RCV003561339] |
Chr6:72182322 [GRCh38] Chr6:72892025 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2771-2A>G |
single nucleotide variant |
RIMS1-related disorder [RCV003893483]|not provided [RCV003839848] |
Chr6:72258123 [GRCh38] Chr6:72967826 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1678+20C>G |
single nucleotide variant |
not provided [RCV003665371] |
Chr6:72183169 [GRCh38] Chr6:72892872 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.3069G>T (p.Leu1023=) |
single nucleotide variant |
not provided [RCV003816618] |
Chr6:72260720 [GRCh38] Chr6:72970423 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4148T>C (p.Met1383Thr) |
single nucleotide variant |
not provided [RCV003673163] |
Chr6:72333617 [GRCh38] Chr6:73043320 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3322T>C (p.Phe1108Leu) |
single nucleotide variant |
not provided [RCV003560587] |
Chr6:72265973 [GRCh38] Chr6:72975676 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1999G>A (p.Ala667Thr) |
single nucleotide variant |
not provided [RCV003672815] |
Chr6:72242355 [GRCh38] Chr6:72952058 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1404G>T (p.Glu468Asp) |
single nucleotide variant |
not provided [RCV003854503] |
Chr6:72182875 [GRCh38] Chr6:72892578 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.378T>C (p.Asp126=) |
single nucleotide variant |
not provided [RCV003673014] |
Chr6:72097081 [GRCh38] Chr6:72806784 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2786G>A (p.Ser929Asn) |
single nucleotide variant |
not provided [RCV003702336] |
Chr6:72258140 [GRCh38] Chr6:72967843 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1990C>G (p.Leu664Val) |
single nucleotide variant |
not provided [RCV003667340] |
Chr6:72242346 [GRCh38] Chr6:72952049 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2661A>T (p.Arg887=) |
single nucleotide variant |
not provided [RCV003716956] |
Chr6:72251331 [GRCh38] Chr6:72961034 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.19C>A (p.Pro7Thr) |
single nucleotide variant |
not provided [RCV003699880] |
Chr6:71887042 [GRCh38] Chr6:72596745 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.891A>G (p.Ser297=) |
single nucleotide variant |
not provided [RCV003669072] |
Chr6:72182362 [GRCh38] Chr6:72892065 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1384C>G (p.Pro462Ala) |
single nucleotide variant |
not provided [RCV003834145] |
Chr6:72182855 [GRCh38] Chr6:72892558 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.979T>G (p.Tyr327Asp) |
single nucleotide variant |
not provided [RCV003548385] |
Chr6:72182450 [GRCh38] Chr6:72892153 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3554+1G>A |
single nucleotide variant |
not provided [RCV003565731] |
Chr6:72284119 [GRCh38] Chr6:72993822 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3617T>C (p.Val1206Ala) |
single nucleotide variant |
not provided [RCV003709248] |
Chr6:72290741 [GRCh38] Chr6:73000444 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1962T>C (p.Asp654=) |
single nucleotide variant |
not provided [RCV003705222] |
Chr6:72242318 [GRCh38] Chr6:72952021 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.305C>G (p.Ala102Gly) |
single nucleotide variant |
not provided [RCV003861746] |
Chr6:72097008 [GRCh38] Chr6:72806711 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3963+16T>C |
single nucleotide variant |
not provided [RCV003565215] |
Chr6:72307386 [GRCh38] Chr6:73017089 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2815A>T (p.Thr939Ser) |
single nucleotide variant |
not provided [RCV003675807] |
Chr6:72258169 [GRCh38] Chr6:72967872 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3293A>G (p.Asp1098Gly) |
single nucleotide variant |
not provided [RCV003707772] |
Chr6:72265488 [GRCh38] Chr6:72975191 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.831T>C (p.Leu277=) |
single nucleotide variant |
not provided [RCV003863331] |
Chr6:72182302 [GRCh38] Chr6:72892005 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2400A>G (p.Thr800=) |
single nucleotide variant |
not provided [RCV003678049] |
Chr6:72250948 [GRCh38] Chr6:72960651 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.391C>T (p.Leu131Phe) |
single nucleotide variant |
not provided [RCV003735724] |
Chr6:72097094 [GRCh38] Chr6:72806797 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2316A>C (p.Arg772Ser) |
single nucleotide variant |
not provided [RCV003685797] |
Chr6:72250404 [GRCh38] Chr6:72960107 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3804A>C (p.Gly1268=) |
single nucleotide variant |
not provided [RCV003685036] |
Chr6:72292000 [GRCh38] Chr6:73001703 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2153A>G (p.Lys718Arg) |
single nucleotide variant |
not provided [RCV003722212] |
Chr6:72248039 [GRCh38] Chr6:72957742 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2176G>A (p.Val726Ile) |
single nucleotide variant |
not provided [RCV003736033] |
Chr6:72248062 [GRCh38] Chr6:72957765 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1708G>A (p.Ala570Thr) |
single nucleotide variant |
not provided [RCV003845966] |
Chr6:72233802 [GRCh38] Chr6:72943505 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3534C>T (p.Gly1178=) |
single nucleotide variant |
not provided [RCV003685190] |
Chr6:72284098 [GRCh38] Chr6:72993801 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2372+15del |
deletion |
not provided [RCV003679905] |
Chr6:72250472 [GRCh38] Chr6:72960175 [GRCh37] Chr6:6q13 |
benign |
NM_014989.7(RIMS1):c.5031C>T (p.Ser1677=) |
single nucleotide variant |
not provided [RCV003866966] |
Chr6:72400666 [GRCh38] Chr6:73110368 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.926A>G (p.Glu309Gly) |
single nucleotide variant |
not provided [RCV003718853] |
Chr6:72182397 [GRCh38] Chr6:72892100 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4339A>G (p.Arg1447Gly) |
single nucleotide variant |
not provided [RCV003683846] |
Chr6:72333808 [GRCh38] Chr6:73043511 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3842T>C (p.Ile1281Thr) |
single nucleotide variant |
not provided [RCV003840727] |
Chr6:72292038 [GRCh38] Chr6:73001741 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1332A>G (p.Leu444=) |
single nucleotide variant |
not provided [RCV003861700] |
Chr6:72182803 [GRCh38] Chr6:72892506 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1361A>G (p.His454Arg) |
single nucleotide variant |
not provided [RCV003723227] |
Chr6:72182832 [GRCh38] Chr6:72892535 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2764C>T (p.Pro922Ser) |
single nucleotide variant |
not provided [RCV003727354] |
Chr6:72252826 [GRCh38] Chr6:72962529 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1226C>T (p.Ala409Val) |
single nucleotide variant |
not provided [RCV003712372] |
Chr6:72182697 [GRCh38] Chr6:72892400 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.948C>A (p.Ser316Arg) |
single nucleotide variant |
not provided [RCV003867642] |
Chr6:72182419 [GRCh38] Chr6:72892122 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1384C>T (p.Pro462Ser) |
single nucleotide variant |
not provided [RCV003556486] |
Chr6:72182855 [GRCh38] Chr6:72892558 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4308C>A (p.Ala1436=) |
single nucleotide variant |
not provided [RCV003676530] |
Chr6:72333777 [GRCh38] Chr6:73043480 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.320G>T (p.Gly107Val) |
single nucleotide variant |
not provided [RCV003711635] |
Chr6:72097023 [GRCh38] Chr6:72806726 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1678+12G>A |
single nucleotide variant |
not provided [RCV003553141] |
Chr6:72183161 [GRCh38] Chr6:72892864 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4367-14CT[2] |
microsatellite |
not provided [RCV003819240] |
Chr6:72390584..72390585 [GRCh38] Chr6:73100286..73100287 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1193C>G (p.Thr398Ser) |
single nucleotide variant |
not provided [RCV003853027] |
Chr6:72182664 [GRCh38] Chr6:72892367 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3911A>G (p.Gln1304Arg) |
single nucleotide variant |
not provided [RCV003681199] |
Chr6:72307318 [GRCh38] Chr6:73017021 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2928-16T>C |
single nucleotide variant |
not provided [RCV003846229] |
Chr6:72258970 [GRCh38] Chr6:72968673 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2897G>A (p.Arg966His) |
single nucleotide variant |
not provided [RCV003712111] |
Chr6:72258251 [GRCh38] Chr6:72967954 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3554+6_3554+10del |
deletion |
not provided [RCV003730627] |
Chr6:72284122..72284126 [GRCh38] Chr6:72993825..72993829 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1920G>A (p.Lys640=) |
single nucleotide variant |
not provided [RCV003705190] |
Chr6:72237885 [GRCh38] Chr6:72947588 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4487G>A (p.Ser1496Asn) |
single nucleotide variant |
not provided [RCV003845575] |
Chr6:72390718 [GRCh38] Chr6:73100420 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3309-10C>T |
single nucleotide variant |
not provided [RCV003843888] |
Chr6:72265950 [GRCh38] Chr6:72975653 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1547C>T (p.Pro516Leu) |
single nucleotide variant |
not provided [RCV003823542] |
Chr6:72183018 [GRCh38] Chr6:72892721 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1992G>A (p.Leu664=) |
single nucleotide variant |
not provided [RCV003566744] |
Chr6:72242348 [GRCh38] Chr6:72952051 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.307C>T (p.Arg103Trp) |
single nucleotide variant |
not provided [RCV003818973] |
Chr6:72097010 [GRCh38] Chr6:72806713 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1034A>G (p.Gln345Arg) |
single nucleotide variant |
RIMS1-related disorder [RCV003978949] |
Chr6:72182505 [GRCh38] Chr6:72892208 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.471+70C>T |
single nucleotide variant |
RIMS1-related disorder [RCV003926767] |
Chr6:72100056 [GRCh38] Chr6:72809759 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1679-16593G>A |
single nucleotide variant |
RIMS1-related disorder [RCV003964272] |
Chr6:72217180 [GRCh38] Chr6:72926883 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.2659C>A (p.Arg887=) |
single nucleotide variant |
not provided [RCV003887346] |
Chr6:72251329 [GRCh38] Chr6:72961032 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.1679-20579A>G |
single nucleotide variant |
RIMS1-related disorder [RCV003944475] |
Chr6:72213194 [GRCh38] Chr6:72922897 [GRCh37] Chr6:6q13 |
likely benign |
NM_014989.7(RIMS1):c.4002C>A (p.Asn1334Lys) |
single nucleotide variant |
not specified [RCV004451731] |
Chr6:72313544 [GRCh38] Chr6:73023247 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.2201C>T (p.Ala734Val) |
single nucleotide variant |
not specified [RCV004451729] |
Chr6:72248087 [GRCh38] Chr6:72957790 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.3593C>T (p.Ala1198Val) |
single nucleotide variant |
not specified [RCV004451730] |
Chr6:72290717 [GRCh38] Chr6:73000420 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.533G>C (p.Trp178Ser) |
single nucleotide variant |
not specified [RCV004451734] |
Chr6:72179636 [GRCh38] Chr6:72889339 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4093A>G (p.Met1365Val) |
single nucleotide variant |
not specified [RCV004451732] |
Chr6:72313635 [GRCh38] Chr6:73023338 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1829A>G (p.Lys610Arg) |
single nucleotide variant |
not specified [RCV004451728] |
Chr6:72235700 [GRCh38] Chr6:72945403 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.4715C>T (p.Thr1572Ile) |
single nucleotide variant |
not specified [RCV004451733] |
Chr6:72398345 [GRCh38] Chr6:73108047 [GRCh37] Chr6:6q13 |
uncertain significance |
NC_000006.11:g.(?_73100280)_(73110416_?)dup |
duplication |
not provided [RCV004578867] |
Chr6:73100280..73110416 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.743C>G (p.Ser248Trp) |
single nucleotide variant |
not specified [RCV004663147] |
Chr6:72179846 [GRCh38] Chr6:72889549 [GRCh37] Chr6:6q13 |
uncertain significance |
NC_000006.11:g.(?_72596727)_(73332335_?)dup |
duplication |
not provided [RCV004578866] |
Chr6:72596727..73332335 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_014989.7(RIMS1):c.1447C>G (p.Leu483Val) |
single nucleotide variant |
RIMS1-related disorder [RCV004757877] |
Chr6:72182918 [GRCh38] Chr6:72892621 [GRCh37] Chr6:6q13 |
uncertain significance |