| NM_002941.4(ROBO1):c.2882+1G>T |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001290382]|Neurooculorenal syndrome [RCV003159562] |
Chr3:78646147 [GRCh38]
Chr3:78695297 [GRCh37]
Chr3:3p12.3 |
pathogenic |
| NM_002941.4(ROBO1):c.1342+1G>A |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001290318]|Neurooculorenal syndrome [RCV003224888] |
Chr3:78685745 [GRCh38]
Chr3:78734895 [GRCh37]
Chr3:3p12.3 |
pathogenic |
| NM_002941.4(ROBO1):c.865C>T (p.Pro289Ser) |
single nucleotide variant |
not provided [RCV003321270] |
Chr3:78717327 [GRCh38]
Chr3:78766477 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.3(ROBO1):c.1046-2010A>C |
single nucleotide variant |
Lung cancer [RCV000093715] |
Chr3:78690782 [GRCh38]
Chr3:78739932 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.3(ROBO1):c.172+43618A>T |
single nucleotide variant |
Lung cancer [RCV000093717] |
Chr3:79081838 [GRCh38]
Chr3:79130988 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.3(ROBO1):c.88+86902C>A |
single nucleotide variant |
Lung cancer [RCV000093718] |
Chr3:79502922 [GRCh38]
Chr3:79552072 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.3(ROBO1):c.88+29846A>G |
single nucleotide variant |
Lung cancer [RCV000093719] |
Chr3:79559978 [GRCh38]
Chr3:79609128 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.3(ROBO1):c.-51+78239G>C |
single nucleotide variant |
Lung cancer [RCV000093720] |
Chr3:79689513 [GRCh38]
Chr3:79738663 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.3(ROBO1):c.-51+31647T>C |
single nucleotide variant |
Lung cancer [RCV000093721] |
Chr3:79736105 [GRCh38]
Chr3:79785255 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| GRCh38/hg38 3p12.3(chr3:78221882-79465461)x3 |
copy number gain |
See cases [RCV000051497] |
Chr3:78221882..79465461 [GRCh38]
Chr3:78271032..79514611 [GRCh37]
Chr3:78353722..79597301 [NCBI36]
Chr3:3p12.3 |
uncertain significance |
| GRCh38/hg38 3p12.3-12.2(chr3:79595164-81258230)x1 |
copy number loss |
See cases [RCV000051540] |
Chr3:79595164..81258230 [GRCh38]
Chr3:79644314..81307381 [GRCh37]
Chr3:79727004..81390071 [NCBI36]
Chr3:3p12.3-12.2 |
pathogenic |
| NM_002941.3(ROBO1):c.2618C>T (p.Ala873Val) |
single nucleotide variant |
Malignant melanoma [RCV000066194] |
Chr3:78651926 [GRCh38]
Chr3:78701076 [GRCh37]
Chr3:78783766 [NCBI36]
Chr3:3p12.3 |
not provided |
| NM_002941.3(ROBO1):c.70C>T (p.Leu24=) |
single nucleotide variant |
Malignant melanoma [RCV000066195] |
Chr3:79589842 [GRCh38]
Chr3:79638992 [GRCh37]
Chr3:79721682 [NCBI36]
Chr3:3p12.3 |
not provided |
| NM_002941.4(ROBO1):c.2924G>A (p.Trp975Ter) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001290383]|not provided [RCV001751551] |
Chr3:78639857 [GRCh38]
Chr3:78689007 [GRCh37]
Chr3:3p12.3 |
likely pathogenic|uncertain significance |
| NM_002941.4(ROBO1):c.2065T>C (p.Ser689Pro) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001290384]|not provided [RCV001751552] |
Chr3:78662016 [GRCh38]
Chr3:78711166 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.818T>C (p.Val273Ala) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001290307]|not provided [RCV002070108] |
Chr3:78717374 [GRCh38]
Chr3:78766524 [GRCh37]
Chr3:3p12.3 |
likely benign|uncertain significance |
| GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1 |
copy number loss |
See cases [RCV000135700] |
Chr3:76764260..89682935 [GRCh38]
Chr3:76813411..89732085 [GRCh37]
Chr3:76896101..89814775 [NCBI36]
Chr3:3p12.3-11.1 |
likely pathogenic |
| GRCh38/hg38 3p12.3(chr3:78139492-78690548)x3 |
copy number gain |
See cases [RCV000135526] |
Chr3:78139492..78690548 [GRCh38]
Chr3:78188643..78739698 [GRCh37]
Chr3:78271333..78822388 [NCBI36]
Chr3:3p12.3 |
pathogenic|likely benign |
| GRCh38/hg38 3p12.3(chr3:78701774-78968186)x1 |
copy number loss |
See cases [RCV000136389] |
Chr3:78701774..78968186 [GRCh38]
Chr3:78750924..79017336 [GRCh37]
Chr3:78833614..79100026 [NCBI36]
Chr3:3p12.3 |
likely benign |
| GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 |
copy number loss |
See cases [RCV000139626] |
Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1 |
pathogenic |
| GRCh38/hg38 3p12.3(chr3:78798490-79096208)x1 |
copy number loss |
See cases [RCV000140909] |
Chr3:78798490..79096208 [GRCh38]
Chr3:78847640..79145358 [GRCh37]
Chr3:78930330..79228048 [NCBI36]
Chr3:3p12.3 |
uncertain significance |
| GRCh38/hg38 3p12.3(chr3:79513424-79550313)x3 |
copy number gain |
See cases [RCV000141014] |
Chr3:79513424..79550313 [GRCh38]
Chr3:79562574..79599463 [GRCh37]
Chr3:79645264..79682153 [NCBI36]
Chr3:3p12.3 |
benign |
| GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1 |
copy number loss |
See cases [RCV000141881] |
Chr3:73824871..90453699 [GRCh38]
Chr3:73874022..90502849 [GRCh37]
Chr3:73956712..90585539 [NCBI36]
Chr3:3p13-11.1 |
pathogenic |
| GRCh38/hg38 3p12.3(chr3:78677264-79126033)x1 |
copy number loss |
See cases [RCV000142271] |
Chr3:78677264..79126033 [GRCh38]
Chr3:78726414..79175183 [GRCh37]
Chr3:78809104..79257873 [NCBI36]
Chr3:3p12.3 |
uncertain significance |
| GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1 |
copy number loss |
See cases [RCV000143665] |
Chr3:74649382..89495681 [GRCh38]
Chr3:74698533..89544831 [GRCh37]
Chr3:74781223..89627521 [NCBI36]
Chr3:3p12.3-11.1 |
pathogenic |
| NM_002941.4(ROBO1):c.644A>T (p.Asp215Val) |
single nucleotide variant |
not provided [RCV003314919] |
Chr3:78746756 [GRCh38]
Chr3:78795906 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1616A>G (p.Tyr539Cys) |
single nucleotide variant |
not provided [RCV000731959] |
Chr3:78668498 [GRCh38]
Chr3:78717648 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| GRCh37/hg19 3p12.3-12.2(chr3:79302526-80288252)x3 |
copy number gain |
See cases [RCV000446930] |
Chr3:79302526..80288252 [GRCh37]
Chr3:3p12.3-12.2 |
uncertain significance |
| GRCh37/hg19 3p12.3-12.2(chr3:79604120-81307181)x1 |
copy number loss |
See cases [RCV000446149] |
Chr3:79604120..81307181 [GRCh37]
Chr3:3p12.3-12.2 |
uncertain significance |
| GRCh37/hg19 3p12.2(chr3:79810845-80743447)x3 |
copy number gain |
See cases [RCV000448886] |
Chr3:79810845..80743447 [GRCh37]
Chr3:3p12.2 |
likely benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79409920-81525880)x3 |
copy number gain |
See cases [RCV000510328] |
Chr3:79409920..81525880 [GRCh37]
Chr3:3p12.3-12.2 |
uncertain significance |
| NM_002941.4(ROBO1):c.1520A>G (p.Asn507Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003274801] |
Chr3:78670124 [GRCh38]
Chr3:78719274 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_002941.4(ROBO1):c.176C>T (p.Ser59Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003271830] |
Chr3:78938924 [GRCh38]
Chr3:78988074 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.604A>C (p.Ile202Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003286703] |
Chr3:78746796 [GRCh38]
Chr3:78795946 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.-50-1G>A |
single nucleotide variant |
not provided [RCV003318136] |
Chr3:79589962 [GRCh38]
Chr3:79639112 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| GRCh37/hg19 3p12.3(chr3:79051770-79203457)x3 |
copy number gain |
not provided [RCV000513150] |
Chr3:79051770..79203457 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| GRCh37/hg19 3p12.3(chr3:76240301-79418897)x1 |
copy number loss |
not provided [RCV000682274] |
Chr3:76240301..79418897 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3503_3505dup (p.Gly1168dup) |
duplication |
Heart, malformation of [RCV001290240]|ROBO1-related condition [RCV003907939]|not provided [RCV000678358] |
Chr3:78631281..78631282 [GRCh38]
Chr3:78680431..78680432 [GRCh37]
Chr3:3p12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p12.3(chr3:78844274-78957109)x1 |
copy number loss |
not provided [RCV000742563] |
Chr3:78844274..78957109 [GRCh37]
Chr3:3p12.3 |
benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79417704-81512863)x3 |
copy number gain |
not provided [RCV000742564] |
Chr3:79417704..81512863 [GRCh37]
Chr3:3p12.3-12.2 |
benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79637418-80131214)x3 |
copy number gain |
not provided [RCV000742565] |
Chr3:79637418..80131214 [GRCh37]
Chr3:3p12.3-12.2 |
benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79712822-79983002)x3 |
copy number gain |
not provided [RCV000742566] |
Chr3:79712822..79983002 [GRCh37]
Chr3:3p12.3-12.2 |
benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79712981-79990407)x3 |
copy number gain |
not provided [RCV000742567] |
Chr3:79712981..79990407 [GRCh37]
Chr3:3p12.3-12.2 |
benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79712981-80064264)x3 |
copy number gain |
not provided [RCV000742568] |
Chr3:79712981..80064264 [GRCh37]
Chr3:3p12.3-12.2 |
benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79724179-80064264)x3 |
copy number gain |
not provided [RCV000742569] |
Chr3:79724179..80064264 [GRCh37]
Chr3:3p12.3-12.2 |
benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79724179-80130323)x3 |
copy number gain |
not provided [RCV000742570] |
Chr3:79724179..80130323 [GRCh37]
Chr3:3p12.3-12.2 |
benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79724179-80143818)x3 |
copy number gain |
not provided [RCV000742571] |
Chr3:79724179..80143818 [GRCh37]
Chr3:3p12.3-12.2 |
benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79764508-79927812)x1 |
copy number loss |
not provided [RCV000742572] |
Chr3:79764508..79927812 [GRCh37]
Chr3:3p12.3-12.2 |
benign |
| GRCh37/hg19 3p12.2(chr3:79805396-80143818)x3 |
copy number gain |
not provided [RCV000742573] |
Chr3:79805396..80143818 [GRCh37]
Chr3:3p12.2 |
benign |
| NM_002941.4(ROBO1):c.4465G>A (p.Ala1489Thr) |
single nucleotide variant |
not provided [RCV003239255] |
Chr3:78607012 [GRCh38]
Chr3:78656162 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2370C>T (p.Asn790=) |
single nucleotide variant |
not provided [RCV000921351] |
Chr3:78659758 [GRCh38]
Chr3:78708908 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3927T>C (p.His1309=) |
single nucleotide variant |
not provided [RCV000926907] |
Chr3:78617990 [GRCh38]
Chr3:78667140 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2614+7G>A |
single nucleotide variant |
not provided [RCV000976005] |
Chr3:78657091 [GRCh38]
Chr3:78706241 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3219C>T (p.Tyr1073=) |
single nucleotide variant |
not provided [RCV000937334] |
Chr3:78635927 [GRCh38]
Chr3:78685077 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3626+8G>A |
single nucleotide variant |
not provided [RCV000983386] |
Chr3:78631153 [GRCh38]
Chr3:78680303 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.88+7G>T |
single nucleotide variant |
not provided [RCV000923514] |
Chr3:79589817 [GRCh38]
Chr3:79638967 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2840-7A>T |
single nucleotide variant |
not provided [RCV000915729] |
Chr3:78646197 [GRCh38]
Chr3:78695347 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4590G>A (p.Lys1530=) |
single nucleotide variant |
not provided [RCV000928985] |
Chr3:78606887 [GRCh38]
Chr3:78656037 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2211A>T (p.Val737=) |
single nucleotide variant |
not provided [RCV000966876] |
Chr3:78661139 [GRCh38]
Chr3:78710289 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2442+7G>A |
single nucleotide variant |
ROBO1-related condition [RCV003975746]|not provided [RCV000902410] |
Chr3:78659679 [GRCh38]
Chr3:78708829 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| NM_002941.4(ROBO1):c.178C>T (p.Arg60Cys) |
single nucleotide variant |
ROBO1-related condition [RCV003913100]|not provided [RCV000922351] |
Chr3:78938922 [GRCh38]
Chr3:78988072 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4599A>C (p.Glu1533Asp) |
single nucleotide variant |
not provided [RCV000968005] |
Chr3:78606878 [GRCh38]
Chr3:78656028 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.3645A>G (p.Pro1215=) |
single nucleotide variant |
not provided [RCV000974996] |
Chr3:78627551 [GRCh38]
Chr3:78676701 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.3560C>T (p.Pro1187Leu) |
single nucleotide variant |
ROBO1-related condition [RCV003978015]|not provided [RCV000917357] |
Chr3:78631227 [GRCh38]
Chr3:78680377 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3921T>G (p.Pro1307=) |
single nucleotide variant |
not provided [RCV000919469] |
Chr3:78617996 [GRCh38]
Chr3:78667146 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.88+6T>C |
single nucleotide variant |
ROBO1-related condition [RCV003928567]|not provided [RCV000973926] |
Chr3:79589818 [GRCh38]
Chr3:79638968 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.537C>T (p.Val179=) |
single nucleotide variant |
not provided [RCV000886478] |
Chr3:78746863 [GRCh38]
Chr3:78796013 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2691G>A (p.Pro897=) |
single nucleotide variant |
not provided [RCV000933165] |
Chr3:78651853 [GRCh38]
Chr3:78701003 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4650C>T (p.Pro1550=) |
single nucleotide variant |
not provided [RCV000914729] |
Chr3:78606827 [GRCh38]
Chr3:78655977 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2859C>T (p.Gly953=) |
single nucleotide variant |
not provided [RCV000962982] |
Chr3:78646171 [GRCh38]
Chr3:78695321 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.3246C>T (p.Asn1082=) |
single nucleotide variant |
ROBO1-related condition [RCV003940743]|not provided [RCV000893590] |
Chr3:78635900 [GRCh38]
Chr3:78685050 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.3626+10G>C |
single nucleotide variant |
not provided [RCV000975231] |
Chr3:78631151 [GRCh38]
Chr3:78680301 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.798G>A (p.Lys266=) |
single nucleotide variant |
not provided [RCV000964938] |
Chr3:78717394 [GRCh38]
Chr3:78766544 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.1752T>C (p.Asn584=) |
single nucleotide variant |
not provided [RCV000903513] |
Chr3:78668181 [GRCh38]
Chr3:78717331 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2615-10G>A |
single nucleotide variant |
ROBO1-related condition [RCV003922935]|not provided [RCV000899061] |
Chr3:78651939 [GRCh38]
Chr3:78701089 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| NM_002941.4(ROBO1):c.3652G>A (p.Val1218Met) |
single nucleotide variant |
ROBO1-related condition [RCV003968369]|not provided [RCV000909412] |
Chr3:78627544 [GRCh38]
Chr3:78676694 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.831C>T (p.Asp277=) |
single nucleotide variant |
not provided [RCV000982694] |
Chr3:78717361 [GRCh38]
Chr3:78766511 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.699T>C (p.Ser233=) |
single nucleotide variant |
not provided [RCV000884429] |
Chr3:78717842 [GRCh38]
Chr3:78766992 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2817G>A (p.Pro939=) |
single nucleotide variant |
not provided [RCV000930322] |
Chr3:78647651 [GRCh38]
Chr3:78696801 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4378C>A (p.Pro1460Thr) |
single nucleotide variant |
not provided [RCV003314785] |
Chr3:78614705 [GRCh38]
Chr3:78663855 [GRCh37]
Chr3:3p12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002941.4(ROBO1):c.658-7T>C |
single nucleotide variant |
ROBO1-related condition [RCV003968155]|not provided [RCV000893531] |
Chr3:78717890 [GRCh38]
Chr3:78767040 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1155G>A (p.Arg385=) |
single nucleotide variant |
ROBO1-related condition [RCV003940784]|not provided [RCV000896834] |
Chr3:78688663 [GRCh38]
Chr3:78737813 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.159G>A (p.Ser53=) |
single nucleotide variant |
ROBO1-related condition [RCV003940806]|not provided [RCV000897836] |
Chr3:79125469 [GRCh38]
Chr3:79174619 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| GRCh37/hg19 3p12.3(chr3:78491347-78709361)x3 |
copy number gain |
not provided [RCV001005448] |
Chr3:78491347..78709361 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.505C>T (p.Arg169Trp) |
single nucleotide variant |
not provided [RCV003313495] |
Chr3:78746895 [GRCh38]
Chr3:78796045 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2989G>A (p.Ala997Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003273751] |
Chr3:78639792 [GRCh38]
Chr3:78688942 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.621T>A (p.Asp207Glu) |
single nucleotide variant |
not provided [RCV003237048] |
Chr3:78746779 [GRCh38]
Chr3:78795929 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.337G>T (p.Asp113Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003239955] |
Chr3:78938763 [GRCh38]
Chr3:78987913 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2071A>G (p.Ile691Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003251884] |
Chr3:78662010 [GRCh38]
Chr3:78711160 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4155C>T (p.Ser1385=) |
single nucleotide variant |
ROBO1-related condition [RCV003920834]|not provided [RCV000895639] |
Chr3:78617762 [GRCh38]
Chr3:78666912 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4513C>T (p.Pro1505Ser) |
single nucleotide variant |
not provided [RCV000907180] |
Chr3:78606964 [GRCh38]
Chr3:78656114 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2765G>A (p.Arg922His) |
single nucleotide variant |
ROBO1-related condition [RCV003932926]|not provided [RCV000907756] |
Chr3:78651779 [GRCh38]
Chr3:78700929 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| NM_002941.4(ROBO1):c.3823T>C (p.Leu1275=) |
single nucleotide variant |
ROBO1-related condition [RCV003920651]|not provided [RCV000885979] |
Chr3:78627373 [GRCh38]
Chr3:78676523 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.173-4G>T |
single nucleotide variant |
not provided [RCV000909142] |
Chr3:78938931 [GRCh38]
Chr3:78988081 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4548A>G (p.Ala1516=) |
single nucleotide variant |
not provided [RCV000980585] |
Chr3:78606929 [GRCh38]
Chr3:78656079 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3102G>A (p.Glu1034=) |
single nucleotide variant |
not provided [RCV000955320] |
Chr3:78636044 [GRCh38]
Chr3:78685194 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2916G>A (p.Ala972=) |
single nucleotide variant |
not provided [RCV000908155] |
Chr3:78639865 [GRCh38]
Chr3:78689015 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1233C>T (p.Gly411=) |
single nucleotide variant |
ROBO1-related condition [RCV003943244]|not provided [RCV000974997] |
Chr3:78685855 [GRCh38]
Chr3:78735005 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| NM_002941.4(ROBO1):c.2882+7A>C |
single nucleotide variant |
not provided [RCV000948654] |
Chr3:78646141 [GRCh38]
Chr3:78695291 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4744+6C>T |
single nucleotide variant |
ROBO1-related condition [RCV003920641]|not provided [RCV000885705] |
Chr3:78606727 [GRCh38]
Chr3:78655877 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| NM_002941.4(ROBO1):c.2088+7T>G |
single nucleotide variant |
ROBO1-related condition [RCV003925995]|not provided [RCV000954085] |
Chr3:78661986 [GRCh38]
Chr3:78711136 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| NM_002941.4(ROBO1):c.1071C>A (p.Pro357=) |
single nucleotide variant |
not provided [RCV000888530] |
Chr3:78688747 [GRCh38]
Chr3:78737897 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.3816G>C (p.Gln1272His) |
single nucleotide variant |
ROBO1-related condition [RCV003950472]|not provided [RCV000896232] |
Chr3:78627380 [GRCh38]
Chr3:78676530 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2880G>A (p.Gly960=) |
single nucleotide variant |
not provided [RCV000910974] |
Chr3:78646150 [GRCh38]
Chr3:78695300 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1224C>T (p.Ser408=) |
single nucleotide variant |
not provided [RCV000956777] |
Chr3:78685864 [GRCh38]
Chr3:78735014 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| NM_002941.4(ROBO1):c.4608T>C (p.Asp1536=) |
single nucleotide variant |
not provided [RCV000935001] |
Chr3:78606869 [GRCh38]
Chr3:78656019 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.4494G>A (p.Lys1498=) |
single nucleotide variant |
not provided [RCV000913949] |
Chr3:78606983 [GRCh38]
Chr3:78656133 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1565G>A (p.Arg522Gln) |
single nucleotide variant |
ROBO1-related condition [RCV003950795]|not provided [RCV000913979] |
Chr3:78668549 [GRCh38]
Chr3:78717699 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4803C>T (p.Pro1601=) |
single nucleotide variant |
ROBO1-related condition [RCV003923176]|not provided [RCV000912092] |
Chr3:78600251 [GRCh38]
Chr3:78649401 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4566A>C (p.Ser1522=) |
single nucleotide variant |
not provided [RCV000911719] |
Chr3:78606911 [GRCh38]
Chr3:78656061 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.702C>T (p.Asp234=) |
single nucleotide variant |
not provided [RCV000934324] |
Chr3:78717839 [GRCh38]
Chr3:78766989 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2238C>T (p.Asn746=) |
single nucleotide variant |
ROBO1-related condition [RCV003950774]|not provided [RCV000912949] |
Chr3:78661112 [GRCh38]
Chr3:78710262 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3986A>G (p.Glu1329Gly) |
single nucleotide variant |
not provided [RCV001528566] |
Chr3:78617931 [GRCh38]
Chr3:78667081 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.214G>A (p.Glu72Lys) |
single nucleotide variant |
not provided [RCV001529285] |
Chr3:78938886 [GRCh38]
Chr3:78988036 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4284C>T (p.Gly1428=) |
single nucleotide variant |
not provided [RCV001537133] |
Chr3:78614799 [GRCh38]
Chr3:78663949 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.3450C>A (p.Tyr1150Ter) |
single nucleotide variant |
Pituitary stalk interruption syndrome [RCV001257296] |
Chr3:78633966 [GRCh38]
Chr3:78683116 [GRCh37]
Chr3:3p12.3 |
pathogenic|likely pathogenic |
| NM_002941.4(ROBO1):c.2929del (p.Ala977fs) |
deletion |
Pituitary stalk interruption syndrome [RCV001257293] |
Chr3:78639852 [GRCh38]
Chr3:78689002 [GRCh37]
Chr3:3p12.3 |
pathogenic|likely pathogenic |
| NM_002941.4(ROBO1):c.4823C>G (p.Ser1608Ter) |
single nucleotide variant |
Bilateral renal agenesis [RCV001290385]|Neurooculorenal syndrome [RCV003159563] |
Chr3:78600231 [GRCh38]
Chr3:78649381 [GRCh37]
Chr3:3p12.3 |
pathogenic|likely pathogenic |
| NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser) |
single nucleotide variant |
Pituitary hormone deficiency, combined or isolated, 8 [RCV003224885]|Pituitary stalk interruption syndrome [RCV001257295] |
Chr3:78717822 [GRCh38]
Chr3:78766972 [GRCh37]
Chr3:3p12.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_002941.4(ROBO1):c.526C>T (p.Pro176Ser) |
single nucleotide variant |
Bilateral renal agenesis [RCV001290396]|Neurooculorenal syndrome [RCV003159564] |
Chr3:78746874 [GRCh38]
Chr3:78796024 [GRCh37]
Chr3:3p12.3 |
pathogenic|likely pathogenic |
| NM_002941.4(ROBO1):c.1985del (p.Gln662fs) |
deletion |
Increased nuchal translucency [RCV001290241] |
Chr3:78662096 [GRCh38]
Chr3:78711246 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.4259G>T (p.Arg1420Leu) |
single nucleotide variant |
Intellectual disability [RCV001290250] |
Chr3:78617658 [GRCh38]
Chr3:78666808 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter) |
single nucleotide variant |
Tetralogy of Fallot [RCV001290239] |
Chr3:78938745 [GRCh38]
Chr3:78987895 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.2840-1G>C |
single nucleotide variant |
Heart, malformation of [RCV001290242] |
Chr3:78646191 [GRCh38]
Chr3:78695341 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.4786AAT[1] (p.Asn1597del) |
microsatellite |
Heart, malformation of [RCV001290244] |
Chr3:78600263..78600265 [GRCh38]
Chr3:78649413..78649415 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1690C>T (p.Pro564Ser) |
single nucleotide variant |
Pituitary hormone deficiency, combined or isolated, 8 [RCV003159561]|Pituitary stalk interruption syndrome [RCV001290236] |
Chr3:78668243 [GRCh38]
Chr3:78717393 [GRCh37]
Chr3:3p12.3 |
pathogenic|uncertain significance |
| NM_002941.4(ROBO1):c.3800C>A (p.Pro1267Gln) |
single nucleotide variant |
Intellectual disability [RCV001290246] |
Chr3:78627396 [GRCh38]
Chr3:78676546 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2204G>A (p.Ser735Asn) |
single nucleotide variant |
Neurodevelopmental delay [RCV001290237]|ROBO1-related condition [RCV003953633]|not provided [RCV001520797] |
Chr3:78661146 [GRCh38]
Chr3:78710296 [GRCh37]
Chr3:3p12.3 |
benign|likely benign|uncertain significance |
| NM_002941.4(ROBO1):c.3125A>T (p.Asp1042Val) |
single nucleotide variant |
Intellectual disability [RCV001290243] |
Chr3:78636021 [GRCh38]
Chr3:78685171 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1420C>T (p.Leu474Phe) |
single nucleotide variant |
Heart, malformation of [RCV001290245] |
Chr3:78670224 [GRCh38]
Chr3:78719374 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1198C>T (p.Gln400Ter) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001290308] |
Chr3:78685890 [GRCh38]
Chr3:78735040 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1 |
copy number loss |
Tetralogy of Fallot [RCV001421038] |
Chr3:78653578..79071345 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter) |
single nucleotide variant |
Tetralogy of Fallot [RCV001290235]|not provided [RCV001760327] |
Chr3:78714514 [GRCh38]
Chr3:78763664 [GRCh37]
Chr3:3p12.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002941.4(ROBO1):c.2914G>A (p.Ala972Thr) |
single nucleotide variant |
Neurodevelopmental delay [RCV001290238] |
Chr3:78639867 [GRCh38]
Chr3:78689017 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4156G>T (p.Gly1386Ter) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001391191] |
Chr3:78617761 [GRCh38]
Chr3:78666911 [GRCh37]
Chr3:3p12.3 |
pathogenic |
| NM_002941.4(ROBO1):c.850G>T (p.Glu284Ter) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001391192] |
Chr3:78717342 [GRCh38]
Chr3:78766492 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.687C>G (p.Tyr229Ter) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001391193]|Neurooculorenal syndrome [RCV003159565] |
Chr3:78717854 [GRCh38]
Chr3:78767004 [GRCh37]
Chr3:3p12.3 |
pathogenic |
| NM_002941.4(ROBO1):c.2758C>T (p.Arg920Ter) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001391194]|Neurooculorenal syndrome [RCV003224890] |
Chr3:78651786 [GRCh38]
Chr3:78700936 [GRCh37]
Chr3:3p12.3 |
pathogenic|likely pathogenic |
| NM_002941.4(ROBO1):c.4282+20A>G |
single nucleotide variant |
not provided [RCV001643508] |
Chr3:78617615 [GRCh38]
Chr3:78666765 [GRCh37]
Chr3:3p12.3 |
benign |
| NC_000003.11:g.78945148_79288919del |
deletion |
Pituitary stalk interruption syndrome [RCV001391226] |
Chr3:78945148..79288919 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.2665C>G (p.Gln889Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002568162]|not provided [RCV001529327] |
Chr3:78651879 [GRCh38]
Chr3:78701029 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4068C>T (p.Ala1356=) |
single nucleotide variant |
not provided [RCV003109018] |
Chr3:78617849 [GRCh38]
Chr3:78666999 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2630_2631del (p.Pro877fs) |
deletion |
Congenital anomaly of kidney and urinary tract [RCV001779960] |
Chr3:78651913..78651914 [GRCh38]
Chr3:78701063..78701064 [GRCh37]
Chr3:3p12.3 |
pathogenic |
| NM_002941.4(ROBO1):c.2512G>A (p.Val838Ile) |
single nucleotide variant |
not provided [RCV001774848] |
Chr3:78657200 [GRCh38]
Chr3:78706350 [GRCh37]
Chr3:3p12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002941.4(ROBO1):c.1538G>A (p.Arg513Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002540643]|not provided [RCV001774856] |
Chr3:78670106 [GRCh38]
Chr3:78719256 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2708T>C (p.Ile903Thr) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001779961]|Inborn genetic diseases [RCV002541111] |
Chr3:78651836 [GRCh38]
Chr3:78700986 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4015_4018del (p.Ala1339fs) |
deletion |
Congenital anomaly of kidney and urinary tract [RCV001779959] |
Chr3:78617899..78617902 [GRCh38]
Chr3:78667049..78667052 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.1400C>T (p.Ala467Val) |
single nucleotide variant |
Imperforate anus [RCV001823028]|Inborn genetic diseases [RCV002542722] |
Chr3:78670244 [GRCh38]
Chr3:78719394 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3396TCC[1] (p.Pro1134del) |
microsatellite |
Nystagmus, congenital, autosomal recessive [RCV003333194]|not provided [RCV001988072] |
Chr3:78634015..78634017 [GRCh38]
Chr3:78683165..78683167 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2557G>A (p.Ala853Thr) |
single nucleotide variant |
not provided [RCV001892683] |
Chr3:78657155 [GRCh38]
Chr3:78706305 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| GRCh37/hg19 3p12.3-12.2(chr3:79302526-80288252) |
copy number gain |
not specified [RCV002053359] |
Chr3:79302526..80288252 [GRCh37]
Chr3:3p12.3-12.2 |
uncertain significance |
| NM_002941.4(ROBO1):c.902A>G (p.Glu301Gly) |
single nucleotide variant |
not provided [RCV002044583] |
Chr3:78717290 [GRCh38]
Chr3:78766440 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1699C>T (p.Pro567Ser) |
single nucleotide variant |
not provided [RCV002040768] |
Chr3:78668234 [GRCh38]
Chr3:78717384 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.301T>A (p.Trp101Arg) |
single nucleotide variant |
not provided [RCV001985646] |
Chr3:78938799 [GRCh38]
Chr3:78987949 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4930GAA[3] (p.Glu1645dup) |
microsatellite |
not provided [RCV001895550] |
Chr3:78600118..78600119 [GRCh38]
Chr3:78649268..78649269 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1265A>G (p.Asp422Gly) |
single nucleotide variant |
Short stature [RCV001844435] |
Chr3:78685823 [GRCh38]
Chr3:78734973 [GRCh37]
Chr3:3p12.3 |
pathogenic |
| NC_000003.11:g.(?_79638954)_(79639061_?)dup |
duplication |
not provided [RCV001996137] |
Chr3:79638954..79639061 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4181A>C (p.Asp1394Ala) |
single nucleotide variant |
not provided [RCV002009982] |
Chr3:78617736 [GRCh38]
Chr3:78666886 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4835C>T (p.Ser1612Leu) |
single nucleotide variant |
not provided [RCV001990661] |
Chr3:78600219 [GRCh38]
Chr3:78649369 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3343A>C (p.Asn1115His) |
single nucleotide variant |
not provided [RCV001867020] |
Chr3:78635803 [GRCh38]
Chr3:78684953 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1967-8T>A |
single nucleotide variant |
not provided [RCV001926226] |
Chr3:78662122 [GRCh38]
Chr3:78711272 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1967-19T>C |
single nucleotide variant |
not provided [RCV002092862] |
Chr3:78662133 [GRCh38]
Chr3:78711283 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1343-14G>A |
single nucleotide variant |
not provided [RCV002087398] |
Chr3:78670315 [GRCh38]
Chr3:78719465 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1776A>G (p.Thr592=) |
single nucleotide variant |
ROBO1-related condition [RCV003970939]|not provided [RCV002124787] |
Chr3:78668157 [GRCh38]
Chr3:78717307 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| NM_002941.4(ROBO1):c.917+7A>C |
single nucleotide variant |
not provided [RCV002111157] |
Chr3:78717268 [GRCh38]
Chr3:78766418 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1342+19del |
deletion |
not provided [RCV002104834] |
Chr3:78685727 [GRCh38]
Chr3:78734877 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.1140A>G (p.Pro380=) |
single nucleotide variant |
not provided [RCV002169336] |
Chr3:78688678 [GRCh38]
Chr3:78737828 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4941+11T>A |
single nucleotide variant |
not provided [RCV002169940] |
Chr3:78600102 [GRCh38]
Chr3:78649252 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2883-7dup |
duplication |
not provided [RCV002165532] |
Chr3:78639904..78639905 [GRCh38]
Chr3:78689054..78689055 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.4668G>A (p.Gln1556=) |
single nucleotide variant |
not provided [RCV002209743] |
Chr3:78606809 [GRCh38]
Chr3:78655959 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.414T>C (p.Ser138=) |
single nucleotide variant |
not provided [RCV002213765] |
Chr3:78938686 [GRCh38]
Chr3:78987836 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2973C>T (p.Ser991=) |
single nucleotide variant |
not provided [RCV002116184] |
Chr3:78639808 [GRCh38]
Chr3:78688958 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.4311C>G (p.Cys1437Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003007014]|not provided [RCV002085144] |
Chr3:78614772 [GRCh38]
Chr3:78663922 [GRCh37]
Chr3:3p12.3 |
likely benign|uncertain significance |
| NM_002941.4(ROBO1):c.1828G>A (p.Val610Ile) |
single nucleotide variant |
not provided [RCV002174883] |
Chr3:78668021 [GRCh38]
Chr3:78717171 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2913C>T (p.Ala971=) |
single nucleotide variant |
not provided [RCV002085509] |
Chr3:78639868 [GRCh38]
Chr3:78689018 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3272G>A (p.Ser1091Asn) |
single nucleotide variant |
not provided [RCV002115700] |
Chr3:78635874 [GRCh38]
Chr3:78685024 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.3811C>T (p.Leu1271Phe) |
single nucleotide variant |
not provided [RCV002089811] |
Chr3:78627385 [GRCh38]
Chr3:78676535 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.1206C>T (p.Ser402=) |
single nucleotide variant |
ROBO1-related condition [RCV003913596]|not provided [RCV002214747] |
Chr3:78685882 [GRCh38]
Chr3:78735032 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.1740G>A (p.Ser580=) |
single nucleotide variant |
not provided [RCV002132150] |
Chr3:78668193 [GRCh38]
Chr3:78717343 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2839+12C>T |
single nucleotide variant |
not provided [RCV002092544] |
Chr3:78647617 [GRCh38]
Chr3:78696767 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3875+4T>C |
single nucleotide variant |
not provided [RCV002165068] |
Chr3:78627317 [GRCh38]
Chr3:78676467 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.4435+19A>T |
single nucleotide variant |
not provided [RCV002133917] |
Chr3:78614629 [GRCh38]
Chr3:78663779 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2320+17G>A |
single nucleotide variant |
not provided [RCV002204935] |
Chr3:78661013 [GRCh38]
Chr3:78710163 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4704A>C (p.Ala1568=) |
single nucleotide variant |
ROBO1-related condition [RCV003913499]|not provided [RCV002097077] |
Chr3:78606773 [GRCh38]
Chr3:78655923 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2793C>A (p.Thr931=) |
single nucleotide variant |
not provided [RCV002117955] |
Chr3:78651751 [GRCh38]
Chr3:78700901 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2840-12G>A |
single nucleotide variant |
not provided [RCV002141383] |
Chr3:78646202 [GRCh38]
Chr3:78695352 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.499+15C>T |
single nucleotide variant |
not provided [RCV002100927] |
Chr3:78938586 [GRCh38]
Chr3:78987736 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.4942-13G>A |
single nucleotide variant |
not provided [RCV002140346] |
Chr3:78598940 [GRCh38]
Chr3:78648090 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4610G>A (p.Gly1537Glu) |
single nucleotide variant |
not provided [RCV002178652] |
Chr3:78606867 [GRCh38]
Chr3:78656017 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1354C>A (p.Arg452=) |
single nucleotide variant |
not provided [RCV002162351] |
Chr3:78670290 [GRCh38]
Chr3:78719440 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2840-2A>G |
single nucleotide variant |
not provided [RCV002255756] |
Chr3:78646192 [GRCh38]
Chr3:78695342 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.2088+18T>C |
single nucleotide variant |
not provided [RCV002218014] |
Chr3:78661975 [GRCh38]
Chr3:78711125 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.499+47311C>T |
single nucleotide variant |
not provided [RCV002098939] |
Chr3:78891290 [GRCh38]
Chr3:78940440 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2421T>C (p.Asn807=) |
single nucleotide variant |
not provided [RCV002161996] |
Chr3:78659707 [GRCh38]
Chr3:78708857 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.54C>T (p.Ser18=) |
single nucleotide variant |
not provided [RCV002219999] |
Chr3:79589858 [GRCh38]
Chr3:79639008 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4283-6C>T |
single nucleotide variant |
not provided [RCV002143284] |
Chr3:78614806 [GRCh38]
Chr3:78663956 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.3373+15A>G |
single nucleotide variant |
not provided [RCV002200018] |
Chr3:78635758 [GRCh38]
Chr3:78684908 [GRCh37]
Chr3:3p12.3 |
benign |
| GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3 |
copy number gain |
not provided [RCV002221455] |
Chr3:72488757..99614758 [GRCh37]
Chr3:3p13-q12.1 |
likely pathogenic |
| NM_002941.4(ROBO1):c.3411A>G (p.Pro1137=) |
single nucleotide variant |
not provided [RCV002176602] |
Chr3:78634005 [GRCh38]
Chr3:78683155 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| NM_002941.4(ROBO1):c.4301C>T (p.Ala1434Val) |
single nucleotide variant |
not provided [RCV003122014] |
Chr3:78614782 [GRCh38]
Chr3:78663932 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1547A>C (p.Lys516Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003253429] |
Chr3:78670097 [GRCh38]
Chr3:78719247 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.767T>C (p.Leu256Pro) |
single nucleotide variant |
not provided [RCV003129356] |
Chr3:78717774 [GRCh38]
Chr3:78766924 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1463G>A (p.Trp488Ter) |
single nucleotide variant |
ROBO1-related disorder [RCV003153146] |
Chr3:78670181 [GRCh38]
Chr3:78719331 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.4330G>A (p.Val1444Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003254802]|not provided [RCV003561271] |
Chr3:78614753 [GRCh38]
Chr3:78663903 [GRCh37]
Chr3:3p12.3 |
likely benign|uncertain significance |
| NM_002941.4(ROBO1):c.3682G>T (p.Asp1228Tyr) |
single nucleotide variant |
not provided [RCV002267472] |
Chr3:78627514 [GRCh38]
Chr3:78676664 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4748A>C (p.Asp1583Ala) |
single nucleotide variant |
not provided [RCV002267438] |
Chr3:78600306 [GRCh38]
Chr3:78649456 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4565C>T (p.Ser1522Leu) |
single nucleotide variant |
Congenital nystagmus [RCV002279766]|Nystagmus, congenital, autosomal recessive [RCV003224893]|not provided [RCV002545227] |
Chr3:78606912 [GRCh38]
Chr3:78656062 [GRCh37]
Chr3:3p12.3 |
pathogenic|likely pathogenic|likely benign |
| NM_002941.4(ROBO1):c.205C>A (p.Arg69Ser) |
single nucleotide variant |
not provided [RCV003154355] |
Chr3:78938895 [GRCh38]
Chr3:78988045 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3932A>G (p.Tyr1311Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003287625] |
Chr3:78617985 [GRCh38]
Chr3:78667135 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2883-7del |
deletion |
not provided [RCV002903209] |
Chr3:78639905 [GRCh38]
Chr3:78689055 [GRCh37]
Chr3:3p12.3 |
benign |
| GRCh37/hg19 3p12.3-12.2(chr3:79175867-81092271)x3 |
copy number gain |
not provided [RCV002474671] |
Chr3:79175867..81092271 [GRCh37]
Chr3:3p12.3-12.2 |
uncertain significance |
| NM_002941.4(ROBO1):c.2423G>T (p.Gly808Val) |
single nucleotide variant |
not provided [RCV002467196] |
Chr3:78659705 [GRCh38]
Chr3:78708855 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1895T>C (p.Phe632Ser) |
single nucleotide variant |
not provided [RCV002305892] |
Chr3:78667954 [GRCh38]
Chr3:78717104 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4282+1_4282+26dup |
duplication |
not provided [RCV002301026] |
Chr3:78617608..78617609 [GRCh38]
Chr3:78666758..78666759 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2542T>C (p.Tyr848His) |
single nucleotide variant |
not provided [RCV002301176] |
Chr3:78657170 [GRCh38]
Chr3:78706320 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4340A>G (p.Asp1447Gly) |
single nucleotide variant |
not provided [RCV002300813] |
Chr3:78614743 [GRCh38]
Chr3:78663893 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4464T>C (p.Pro1488=) |
single nucleotide variant |
not provided [RCV002727304] |
Chr3:78607013 [GRCh38]
Chr3:78656163 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1063G>T (p.Val355Leu) |
single nucleotide variant |
not provided [RCV002902943] |
Chr3:78688755 [GRCh38]
Chr3:78737905 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2564G>A (p.Ser855Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002858773] |
Chr3:78657148 [GRCh38]
Chr3:78706298 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.657+4A>C |
single nucleotide variant |
not provided [RCV002991622] |
Chr3:78746739 [GRCh38]
Chr3:78795889 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4359C>T (p.Ala1453=) |
single nucleotide variant |
not provided [RCV002775240] |
Chr3:78614724 [GRCh38]
Chr3:78663874 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.420T>C (p.Pro140=) |
single nucleotide variant |
not provided [RCV003097573] |
Chr3:78938680 [GRCh38]
Chr3:78987830 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.293C>T (p.Thr98Ile) |
single nucleotide variant |
not provided [RCV002843660] |
Chr3:78938807 [GRCh38]
Chr3:78987957 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3950C>G (p.Pro1317Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002883532] |
Chr3:78617967 [GRCh38]
Chr3:78667117 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.280C>T (p.Arg94Cys) |
single nucleotide variant |
not provided [RCV002681671] |
Chr3:78938820 [GRCh38]
Chr3:78987970 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.132C>G (p.Ile44Met) |
single nucleotide variant |
not provided [RCV002615570] |
Chr3:79125496 [GRCh38]
Chr3:79174646 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4096G>T (p.Val1366Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002687114] |
Chr3:78617821 [GRCh38]
Chr3:78666971 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.658-4dup |
duplication |
not provided [RCV002794919] |
Chr3:78717886..78717887 [GRCh38]
Chr3:78767036..78767037 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.4104G>C (p.Gly1368=) |
single nucleotide variant |
not provided [RCV002756568] |
Chr3:78617813 [GRCh38]
Chr3:78666963 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4183G>A (p.Gly1395Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002749334] |
Chr3:78617734 [GRCh38]
Chr3:78666884 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4613G>T (p.Arg1538Ile) |
single nucleotide variant |
not provided [RCV003032730] |
Chr3:78606864 [GRCh38]
Chr3:78656014 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4683A>C (p.Lys1561Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003170724]|not provided [RCV002970713] |
Chr3:78606794 [GRCh38]
Chr3:78655944 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1049C>T (p.Pro350Leu) |
single nucleotide variant |
not provided [RCV002842355] |
Chr3:78688769 [GRCh38]
Chr3:78737919 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2621A>G (p.His874Arg) |
single nucleotide variant |
not provided [RCV002681799] |
Chr3:78651923 [GRCh38]
Chr3:78701073 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2759G>A (p.Arg920Gln) |
single nucleotide variant |
not provided [RCV002968010] |
Chr3:78651785 [GRCh38]
Chr3:78700935 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.368C>T (p.Pro123Leu) |
single nucleotide variant |
not provided [RCV002615931] |
Chr3:78938732 [GRCh38]
Chr3:78987882 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2153A>G (p.His718Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002993387] |
Chr3:78661197 [GRCh38]
Chr3:78710347 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4751T>C (p.Ile1584Thr) |
single nucleotide variant |
not provided [RCV002511188] |
Chr3:78600303 [GRCh38]
Chr3:78649453 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2154C>T (p.His718=) |
single nucleotide variant |
not provided [RCV002908870] |
Chr3:78661196 [GRCh38]
Chr3:78710346 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.687C>T (p.Tyr229=) |
single nucleotide variant |
not provided [RCV002947815] |
Chr3:78717854 [GRCh38]
Chr3:78767004 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4663G>A (p.Glu1555Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002954371]|not provided [RCV002975071] |
Chr3:78606814 [GRCh38]
Chr3:78655964 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3564T>G (p.Pro1188=) |
single nucleotide variant |
not provided [RCV003095341] |
Chr3:78631223 [GRCh38]
Chr3:78680373 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1799+13A>G |
single nucleotide variant |
not provided [RCV002740105] |
Chr3:78668121 [GRCh38]
Chr3:78717271 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3274G>A (p.Gly1092Arg) |
single nucleotide variant |
not provided [RCV002923289] |
Chr3:78635872 [GRCh38]
Chr3:78685022 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3597C>T (p.Ser1199=) |
single nucleotide variant |
not provided [RCV002637191] |
Chr3:78631190 [GRCh38]
Chr3:78680340 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2831C>T (p.Thr944Ile) |
single nucleotide variant |
not provided [RCV002796169] |
Chr3:78647637 [GRCh38]
Chr3:78696787 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2816C>T (p.Pro939Leu) |
single nucleotide variant |
not provided [RCV002659153] |
Chr3:78647652 [GRCh38]
Chr3:78696802 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4631G>A (p.Arg1544Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002844960] |
Chr3:78606846 [GRCh38]
Chr3:78655996 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.979T>C (p.Ser327Pro) |
single nucleotide variant |
not provided [RCV002909886] |
Chr3:78714463 [GRCh38]
Chr3:78763613 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4800T>G (p.Asp1600Glu) |
single nucleotide variant |
ROBO1-related condition [RCV003961260]|not provided [RCV002953063] |
Chr3:78600254 [GRCh38]
Chr3:78649404 [GRCh37]
Chr3:3p12.3 |
benign|uncertain significance |
| NM_002941.4(ROBO1):c.31A>G (p.Met11Val) |
single nucleotide variant |
not provided [RCV003002043] |
Chr3:79589881 [GRCh38]
Chr3:79639031 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.218A>G (p.His73Arg) |
single nucleotide variant |
not provided [RCV002640156] |
Chr3:78938882 [GRCh38]
Chr3:78988032 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1343-3C>A |
single nucleotide variant |
not provided [RCV002949648] |
Chr3:78670304 [GRCh38]
Chr3:78719454 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4182C>A (p.Asp1394Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002799155] |
Chr3:78617735 [GRCh38]
Chr3:78666885 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2734A>C (p.Met912Leu) |
single nucleotide variant |
not provided [RCV002846618] |
Chr3:78651810 [GRCh38]
Chr3:78700960 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3912G>A (p.Pro1304=) |
single nucleotide variant |
not provided [RCV002622630] |
Chr3:78618005 [GRCh38]
Chr3:78667155 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3549A>G (p.Ala1183=) |
single nucleotide variant |
not provided [RCV002796971] |
Chr3:78631238 [GRCh38]
Chr3:78680388 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2443-13G>A |
single nucleotide variant |
not provided [RCV002636355] |
Chr3:78657282 [GRCh38]
Chr3:78706432 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1967-10C>T |
single nucleotide variant |
not provided [RCV003038304] |
Chr3:78662124 [GRCh38]
Chr3:78711274 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4196C>A (p.Thr1399Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002888307]|not provided [RCV003720691] |
Chr3:78617721 [GRCh38]
Chr3:78666871 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3709C>G (p.Arg1237Gly) |
single nucleotide variant |
not provided [RCV002705393] |
Chr3:78627487 [GRCh38]
Chr3:78676637 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.91C>T (p.Pro31Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002797809] |
Chr3:79125537 [GRCh38]
Chr3:79174687 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2776A>C (p.Asn926His) |
single nucleotide variant |
not provided [RCV002638379] |
Chr3:78651768 [GRCh38]
Chr3:78700918 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4618G>A (p.Val1540Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003000385] |
Chr3:78606859 [GRCh38]
Chr3:78656009 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4911A>T (p.Glu1637Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003004662]|not provided [RCV003548943] |
Chr3:78600143 [GRCh38]
Chr3:78649293 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.929G>A (p.Arg310Gln) |
single nucleotide variant |
not provided [RCV002933397] |
Chr3:78714513 [GRCh38]
Chr3:78763663 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1183T>G (p.Ser395Ala) |
single nucleotide variant |
not provided [RCV002919019] |
Chr3:78685905 [GRCh38]
Chr3:78735055 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4360G>T (p.Val1454Leu) |
single nucleotide variant |
ROBO1-related condition [RCV003916626]|not provided [RCV002932521] |
Chr3:78614723 [GRCh38]
Chr3:78663873 [GRCh37]
Chr3:3p12.3 |
benign|likely benign |
| NM_002941.4(ROBO1):c.4051C>T (p.Leu1351Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002830641] |
Chr3:78617866 [GRCh38]
Chr3:78667016 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3651C>T (p.Pro1217=) |
single nucleotide variant |
not provided [RCV002918639] |
Chr3:78627545 [GRCh38]
Chr3:78676695 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2839+18C>A |
single nucleotide variant |
not provided [RCV003043572] |
Chr3:78647611 [GRCh38]
Chr3:78696761 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.236T>C (p.Val79Ala) |
single nucleotide variant |
not provided [RCV003023402] |
Chr3:78938864 [GRCh38]
Chr3:78988014 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4435+17G>A |
single nucleotide variant |
not provided [RCV002642774] |
Chr3:78614631 [GRCh38]
Chr3:78663781 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2074G>A (p.Glu692Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002666411]|not provided [RCV003738345] |
Chr3:78662007 [GRCh38]
Chr3:78711157 [GRCh37]
Chr3:3p12.3 |
likely benign|uncertain significance |
| NM_002941.4(ROBO1):c.1349C>A (p.Ala450Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002826553] |
Chr3:78670295 [GRCh38]
Chr3:78719445 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3724C>G (p.Pro1242Ala) |
single nucleotide variant |
not provided [RCV003085698] |
Chr3:78627472 [GRCh38]
Chr3:78676622 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3380G>A (p.Arg1127Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002931564] |
Chr3:78634036 [GRCh38]
Chr3:78683186 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.763G>A (p.Glu255Lys) |
single nucleotide variant |
not provided [RCV002642536] |
Chr3:78717778 [GRCh38]
Chr3:78766928 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1415T>C (p.Phe472Ser) |
single nucleotide variant |
not provided [RCV002917857] |
Chr3:78670229 [GRCh38]
Chr3:78719379 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1170+20T>C |
single nucleotide variant |
not provided [RCV002626943] |
Chr3:78688628 [GRCh38]
Chr3:78737778 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1373G>A (p.Arg458Gln) |
single nucleotide variant |
ROBO1-related condition [RCV003943473]|not provided [RCV002643081] |
Chr3:78670271 [GRCh38]
Chr3:78719421 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2189C>T (p.Thr730Met) |
single nucleotide variant |
not provided [RCV002574435] |
Chr3:78661161 [GRCh38]
Chr3:78710311 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4137G>A (p.Glu1379=) |
single nucleotide variant |
not provided [RCV002666812] |
Chr3:78617780 [GRCh38]
Chr3:78666930 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2840-14del |
deletion |
not provided [RCV002642740] |
Chr3:78646204 [GRCh38]
Chr3:78695354 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.4458G>A (p.Pro1486=) |
single nucleotide variant |
not provided [RCV002642746] |
Chr3:78607019 [GRCh38]
Chr3:78656169 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4286G>A (p.Arg1429His) |
single nucleotide variant |
not provided [RCV003043034] |
Chr3:78614797 [GRCh38]
Chr3:78663947 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.3481+3A>G |
single nucleotide variant |
not provided [RCV003056398] |
Chr3:78633932 [GRCh38]
Chr3:78683082 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4A>G (p.Lys2Glu) |
single nucleotide variant |
not provided [RCV002966957] |
Chr3:79589908 [GRCh38]
Chr3:79639058 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.455A>G (p.Tyr152Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002936473] |
Chr3:78938645 [GRCh38]
Chr3:78987795 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4485C>T (p.Ala1495=) |
single nucleotide variant |
not provided [RCV002632102] |
Chr3:78606992 [GRCh38]
Chr3:78656142 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.185G>A (p.Arg62His) |
single nucleotide variant |
not provided [RCV002602644] |
Chr3:78938915 [GRCh38]
Chr3:78988065 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1971C>T (p.Val657=) |
single nucleotide variant |
not provided [RCV002602751] |
Chr3:78662110 [GRCh38]
Chr3:78711260 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3006C>T (p.Ser1002=) |
single nucleotide variant |
not provided [RCV003065640] |
Chr3:78639775 [GRCh38]
Chr3:78688925 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4510C>T (p.Arg1504Ter) |
single nucleotide variant |
not provided [RCV002631369] |
Chr3:78606967 [GRCh38]
Chr3:78656117 [GRCh37]
Chr3:3p12.3 |
pathogenic|uncertain significance |
| NM_002941.4(ROBO1):c.4721C>T (p.Pro1574Leu) |
single nucleotide variant |
not provided [RCV002648048] |
Chr3:78606756 [GRCh38]
Chr3:78655906 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4612A>G (p.Arg1538Gly) |
single nucleotide variant |
not provided [RCV003028477] |
Chr3:78606865 [GRCh38]
Chr3:78656015 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2895C>T (p.Leu965=) |
single nucleotide variant |
not provided [RCV002716942] |
Chr3:78639886 [GRCh38]
Chr3:78689036 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2052C>T (p.Thr684=) |
single nucleotide variant |
not provided [RCV002746338] |
Chr3:78662029 [GRCh38]
Chr3:78711179 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.121G>C (p.Gly41Arg) |
single nucleotide variant |
not provided [RCV002628447] |
Chr3:79125507 [GRCh38]
Chr3:79174657 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2812+14C>G |
single nucleotide variant |
not provided [RCV002670761] |
Chr3:78651718 [GRCh38]
Chr3:78700868 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3563C>T (p.Pro1188Leu) |
single nucleotide variant |
not provided [RCV003009031] |
Chr3:78631224 [GRCh38]
Chr3:78680374 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2240A>G (p.Tyr747Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002672506] |
Chr3:78661110 [GRCh38]
Chr3:78710260 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4601T>C (p.Val1534Ala) |
single nucleotide variant |
not provided [RCV002649457] |
Chr3:78606876 [GRCh38]
Chr3:78656026 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3949C>A (p.Pro1317Thr) |
single nucleotide variant |
not provided [RCV002647068] |
Chr3:78617968 [GRCh38]
Chr3:78667118 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.917+2T>C |
single nucleotide variant |
not provided [RCV002856904] |
Chr3:78717273 [GRCh38]
Chr3:78766423 [GRCh37]
Chr3:3p12.3 |
likely pathogenic|uncertain significance |
| NM_002941.4(ROBO1):c.4004A>T (p.Asp1335Val) |
single nucleotide variant |
not provided [RCV002806548] |
Chr3:78617913 [GRCh38]
Chr3:78667063 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3875+3_3875+4delinsCC |
indel |
not provided [RCV002856930] |
Chr3:78627317..78627318 [GRCh38]
Chr3:78676467..78676468 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3359A>G (p.Asn1120Ser) |
single nucleotide variant |
not provided [RCV002576692] |
Chr3:78635787 [GRCh38]
Chr3:78684937 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.399A>C (p.Val133=) |
single nucleotide variant |
not provided [RCV003029666] |
Chr3:78938701 [GRCh38]
Chr3:78987851 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3349G>A (p.Val1117Met) |
single nucleotide variant |
not provided [RCV002649401] |
Chr3:78635797 [GRCh38]
Chr3:78684947 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3440G>A (p.Gly1147Glu) |
single nucleotide variant |
not provided [RCV002811078] |
Chr3:78633976 [GRCh38]
Chr3:78683126 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4283-19_4283-18insC |
insertion |
not provided [RCV002635558] |
Chr3:78614818..78614819 [GRCh38]
Chr3:78663968..78663969 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2196C>G (p.Ala732=) |
single nucleotide variant |
ROBO1-related condition [RCV003898903]|not provided [RCV002654609] |
Chr3:78661154 [GRCh38]
Chr3:78710304 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4694A>G (p.Asn1565Ser) |
single nucleotide variant |
not provided [RCV002605601] |
Chr3:78606783 [GRCh38]
Chr3:78655933 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2303C>T (p.Ala768Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002944818] |
Chr3:78661047 [GRCh38]
Chr3:78710197 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.811T>G (p.Leu271Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002724259] |
Chr3:78717381 [GRCh38]
Chr3:78766531 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.499+11T>C |
single nucleotide variant |
not provided [RCV002653207] |
Chr3:78938590 [GRCh38]
Chr3:78987740 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.746G>A (p.Arg249His) |
single nucleotide variant |
not provided [RCV002942193] |
Chr3:78717795 [GRCh38]
Chr3:78766945 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.88+12G>A |
single nucleotide variant |
not provided [RCV002653293] |
Chr3:79589812 [GRCh38]
Chr3:79638962 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2839+3A>G |
single nucleotide variant |
not provided [RCV003032135] |
Chr3:78647626 [GRCh38]
Chr3:78696776 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2615-18C>T |
single nucleotide variant |
not provided [RCV002635483] |
Chr3:78651947 [GRCh38]
Chr3:78701097 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4229C>T (p.Ala1410Val) |
single nucleotide variant |
not provided [RCV002606261] |
Chr3:78617688 [GRCh38]
Chr3:78666838 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1548+19T>G |
single nucleotide variant |
not provided [RCV002653296] |
Chr3:78670077 [GRCh38]
Chr3:78719227 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1967-7G>C |
single nucleotide variant |
not provided [RCV002611390] |
Chr3:78662121 [GRCh38]
Chr3:78711271 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2266A>G (p.Asn756Asp) |
single nucleotide variant |
not provided [RCV003050270] |
Chr3:78661084 [GRCh38]
Chr3:78710234 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3403A>G (p.Thr1135Ala) |
single nucleotide variant |
not provided [RCV002654675] |
Chr3:78634013 [GRCh38]
Chr3:78683163 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1125C>T (p.Thr375=) |
single nucleotide variant |
not provided [RCV002653903] |
Chr3:78688693 [GRCh38]
Chr3:78737843 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.629C>T (p.Pro210Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003279956] |
Chr3:78746771 [GRCh38]
Chr3:78795921 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4661A>G (p.Gln1554Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003195412] |
Chr3:78606816 [GRCh38]
Chr3:78655966 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1372C>T (p.Arg458Ter) |
single nucleotide variant |
not provided [RCV003229288] |
Chr3:78670272 [GRCh38]
Chr3:78719422 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.499+5G>A |
single nucleotide variant |
not provided [RCV003225330] |
Chr3:78938596 [GRCh38]
Chr3:78987746 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| R920* |
variation |
Neurooculorenal syndrome [RCV003159572] |
|
pathogenic |
| C240S |
single nucleotide variant |
Pituitary hormone deficiency, combined or isolated, 8 [RCV003159570] |
|
pathogenic |
| NM_002941.4(ROBO1):c.1112A>G (p.Gln371Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003184383] |
Chr3:78688706 [GRCh38]
Chr3:78737856 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3452A>G (p.Asn1151Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003175763] |
Chr3:78633964 [GRCh38]
Chr3:78683114 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.941C>G (p.Thr314Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003183412] |
Chr3:78714501 [GRCh38]
Chr3:78763651 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2443G>T (p.Val815Phe) |
single nucleotide variant |
not provided [RCV003225316] |
Chr3:78657269 [GRCh38]
Chr3:78706419 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| ROBO1, SER1522LEU |
single nucleotide variant |
Nystagmus, congenital, autosomal recessive [RCV003159573] |
|
pathogenic |
| ROBO1, IVS10DS, G-A, +1 |
single nucleotide variant |
Neurooculorenal syndrome [RCV003159571] |
|
pathogenic |
| NM_002941.4(ROBO1):c.2954A>G (p.Asn985Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003208416] |
Chr3:78639827 [GRCh38]
Chr3:78688977 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4520T>C (p.Val1507Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003189059] |
Chr3:78606957 [GRCh38]
Chr3:78656107 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4613G>C (p.Arg1538Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003219317] |
Chr3:78606864 [GRCh38]
Chr3:78656014 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4846C>A (p.Gln1616Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003203860] |
Chr3:78600208 [GRCh38]
Chr3:78649358 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3415_3426del (p.Asn1139_Tyr1142del) |
deletion |
not provided [RCV003319721] |
Chr3:78633990..78634001 [GRCh38]
Chr3:78683140..78683151 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1832C>A (p.Ala611Glu) |
single nucleotide variant |
not specified [RCV003324457] |
Chr3:78668017 [GRCh38]
Chr3:78717167 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3031C>T (p.Arg1011Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003265550] |
Chr3:78639750 [GRCh38]
Chr3:78688900 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.428G>A (p.Gly143Glu) |
single nucleotide variant |
not provided [RCV003328835] |
Chr3:78938672 [GRCh38]
Chr3:78987822 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1011C>T (p.Gly337=) |
single nucleotide variant |
not provided [RCV003334259] |
Chr3:78714431 [GRCh38]
Chr3:78763581 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4182C>T (p.Asp1394=) |
single nucleotide variant |
not provided [RCV003334258] |
Chr3:78617735 [GRCh38]
Chr3:78666885 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2620C>G (p.His874Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003376318] |
Chr3:78651924 [GRCh38]
Chr3:78701074 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.233T>C (p.Ile78Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003350600] |
Chr3:78938867 [GRCh38]
Chr3:78988017 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1793C>G (p.Ala598Gly) |
single nucleotide variant |
ROBO1-related condition [RCV003421014] |
Chr3:78668140 [GRCh38]
Chr3:78717290 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.206G>A (p.Arg69His) |
single nucleotide variant |
Inborn genetic diseases [RCV003372432] |
Chr3:78938894 [GRCh38]
Chr3:78988044 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4040T>G (p.Leu1347Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003353859] |
Chr3:78617877 [GRCh38]
Chr3:78667027 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NC_000003.12:g.78717410CT[1] |
microsatellite |
not provided [RCV003457383] |
Chr3:78717409..78717412 [GRCh38]
Chr3:78766559..78766562 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2089-13G>C |
single nucleotide variant |
not provided [RCV003570995] |
Chr3:78661274 [GRCh38]
Chr3:78710424 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2172A>G (p.Leu724=) |
single nucleotide variant |
not provided [RCV003569077] |
Chr3:78661178 [GRCh38]
Chr3:78710328 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3952del (p.Leu1318fs) |
deletion |
not provided [RCV003712652] |
Chr3:78617965 [GRCh38]
Chr3:78667115 [GRCh37]
Chr3:3p12.3 |
pathogenic |
| NM_002941.4(ROBO1):c.3643C>T (p.Pro1215Ser) |
single nucleotide variant |
not provided [RCV003712660] |
Chr3:78627553 [GRCh38]
Chr3:78676703 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3849C>T (p.Gly1283=) |
single nucleotide variant |
not provided [RCV003825453] |
Chr3:78627347 [GRCh38]
Chr3:78676497 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3463C>G (p.Arg1155Gly) |
single nucleotide variant |
not provided [RCV003569433] |
Chr3:78633953 [GRCh38]
Chr3:78683103 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2882+13_2882+16del |
microsatellite |
not provided [RCV003875563] |
Chr3:78646132..78646135 [GRCh38]
Chr3:78695282..78695285 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1501C>T (p.Arg501Ter) |
single nucleotide variant |
not provided [RCV003489413] |
Chr3:78670143 [GRCh38]
Chr3:78719293 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| GRCh37/hg19 3p12.3-12.2(chr3:79324762-79960750)x3 |
copy number gain |
not provided [RCV003484138] |
Chr3:79324762..79960750 [GRCh37]
Chr3:3p12.3-12.2 |
uncertain significance |
| NM_002941.4(ROBO1):c.3100G>A (p.Glu1034Lys) |
single nucleotide variant |
not provided [RCV003441502] |
Chr3:78636046 [GRCh38]
Chr3:78685196 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1223C>T (p.Ser408Phe) |
single nucleotide variant |
not provided [RCV003437915] |
Chr3:78685865 [GRCh38]
Chr3:78735015 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.173-79516C>A |
single nucleotide variant |
not provided [RCV003437917] |
Chr3:79018443 [GRCh38]
Chr3:79067593 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4358C>A (p.Ala1453Asp) |
single nucleotide variant |
not provided [RCV003443992] |
Chr3:78614725 [GRCh38]
Chr3:78663875 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1073G>A (p.Arg358His) |
single nucleotide variant |
ROBO1-related condition [RCV003397612] |
Chr3:78688745 [GRCh38]
Chr3:78737895 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4719A>T (p.Pro1573=) |
single nucleotide variant |
ROBO1-related condition [RCV003966404]|not provided [RCV003433672] |
Chr3:78606758 [GRCh38]
Chr3:78655908 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3715C>T (p.Pro1239Ser) |
single nucleotide variant |
ROBO1-related condition [RCV003412003] |
Chr3:78627481 [GRCh38]
Chr3:78676631 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1005G>C (p.Met335Ile) |
single nucleotide variant |
ROBO1-related condition [RCV003397742] |
Chr3:78714437 [GRCh38]
Chr3:78763587 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.13C>T (p.His5Tyr) |
single nucleotide variant |
ROBO1-related condition [RCV003400228] |
Chr3:79589899 [GRCh38]
Chr3:79639049 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.350C>T (p.Ser117Leu) |
single nucleotide variant |
ROBO1-related condition [RCV003416794] |
Chr3:78938750 [GRCh38]
Chr3:78987900 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2168G>A (p.Trp723Ter) |
single nucleotide variant |
ROBO1-related condition [RCV003416884] |
Chr3:78661182 [GRCh38]
Chr3:78710332 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.531G>A (p.Ser177=) |
single nucleotide variant |
not provided [RCV003437916] |
Chr3:78746869 [GRCh38]
Chr3:78796019 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1800-8A>G |
single nucleotide variant |
not provided [RCV003437914] |
Chr3:78668057 [GRCh38]
Chr3:78717207 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.881G>A (p.Arg294Gln) |
single nucleotide variant |
ROBO1-related condition [RCV003410698] |
Chr3:78717311 [GRCh38]
Chr3:78766461 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4142ACA[1] (p.Asn1382del) |
microsatellite |
ROBO1-related condition [RCV003400374] |
Chr3:78617770..78617772 [GRCh38]
Chr3:78666920..78666922 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4462C>G (p.Pro1488Ala) |
single nucleotide variant |
not provided [RCV003663244] |
Chr3:78607015 [GRCh38]
Chr3:78656165 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3808G>T (p.Glu1270Ter) |
single nucleotide variant |
not provided [RCV003489412] |
Chr3:78627388 [GRCh38]
Chr3:78676538 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.554_555dup (p.Pro186fs) |
microsatellite |
not provided [RCV003544367] |
Chr3:78746844..78746845 [GRCh38]
Chr3:78795994..78795995 [GRCh37]
Chr3:3p12.3 |
pathogenic |
| NM_002941.4(ROBO1):c.4484C>G (p.Ala1495Gly) |
single nucleotide variant |
not provided [RCV003661474] |
Chr3:78606993 [GRCh38]
Chr3:78656143 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4360G>A (p.Val1454Ile) |
single nucleotide variant |
not provided [RCV003547439] |
Chr3:78614723 [GRCh38]
Chr3:78663873 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.372T>C (p.Ser124=) |
single nucleotide variant |
not provided [RCV003575978] |
Chr3:78938728 [GRCh38]
Chr3:78987878 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.2721T>C (p.Cys907=) |
single nucleotide variant |
not provided [RCV003575471] |
Chr3:78651823 [GRCh38]
Chr3:78700973 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.384T>A (p.Phe128Leu) |
single nucleotide variant |
not provided [RCV003491411] |
Chr3:78938716 [GRCh38]
Chr3:78987866 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2839+10del |
deletion |
not provided [RCV003662646] |
Chr3:78647619 [GRCh38]
Chr3:78696769 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.731A>G (p.Asn244Ser) |
single nucleotide variant |
not provided [RCV003693768] |
Chr3:78717810 [GRCh38]
Chr3:78766960 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1356G>A (p.Arg452=) |
single nucleotide variant |
not provided [RCV003545612] |
Chr3:78670288 [GRCh38]
Chr3:78719438 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.3782C>T (p.Ala1261Val) |
single nucleotide variant |
not provided [RCV003713207] |
Chr3:78627414 [GRCh38]
Chr3:78676564 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4302G>A (p.Ala1434=) |
single nucleotide variant |
ROBO1-related condition [RCV003946668]|not provided [RCV003545982] |
Chr3:78614781 [GRCh38]
Chr3:78663931 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4744+17del |
deletion |
not provided [RCV003713169] |
Chr3:78606716 [GRCh38]
Chr3:78655866 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4744+4C>G |
single nucleotide variant |
not provided [RCV003580567] |
Chr3:78606729 [GRCh38]
Chr3:78655879 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4080G>T (p.Gly1360=) |
single nucleotide variant |
not provided [RCV003716905] |
Chr3:78617837 [GRCh38]
Chr3:78666987 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.121G>A (p.Gly41Arg) |
single nucleotide variant |
not provided [RCV003550297] |
Chr3:79125507 [GRCh38]
Chr3:79174657 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4050G>T (p.Gly1350=) |
single nucleotide variant |
not provided [RCV003717122] |
Chr3:78617867 [GRCh38]
Chr3:78667017 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2440_2442+4del |
deletion |
Pituitary hormone deficiency, combined or isolated, 8 [RCV003596259] |
Chr3:78659682..78659688 [GRCh38]
Chr3:78708832..78708838 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.1944A>G (p.Ile648Met) |
single nucleotide variant |
not provided [RCV003717338] |
Chr3:78667905 [GRCh38]
Chr3:78717055 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2840-14dup |
duplication |
not provided [RCV003816888] |
Chr3:78646203..78646204 [GRCh38]
Chr3:78695353..78695354 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.4606G>A (p.Asp1536Asn) |
single nucleotide variant |
not provided [RCV003561428] |
Chr3:78606871 [GRCh38]
Chr3:78656021 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2829C>A (p.Phe943Leu) |
single nucleotide variant |
not provided [RCV003664599] |
Chr3:78647639 [GRCh38]
Chr3:78696789 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4654G>A (p.Glu1552Lys) |
single nucleotide variant |
not provided [RCV003669531] |
Chr3:78606823 [GRCh38]
Chr3:78655973 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4357G>A (p.Ala1453Thr) |
single nucleotide variant |
not provided [RCV003725252] |
Chr3:78614726 [GRCh38]
Chr3:78663876 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1102G>A (p.Val368Ile) |
single nucleotide variant |
not provided [RCV003816905] |
Chr3:78688716 [GRCh38]
Chr3:78737866 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.816A>C (p.Ala272=) |
single nucleotide variant |
ROBO1-related condition [RCV003939101]|not provided [RCV003561722] |
Chr3:78717376 [GRCh38]
Chr3:78766526 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2883-17del |
deletion |
not provided [RCV003668098] |
Chr3:78639915 [GRCh38]
Chr3:78689065 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1045+3A>G |
single nucleotide variant |
not provided [RCV003850534] |
Chr3:78714394 [GRCh38]
Chr3:78763544 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2324C>T (p.Pro775Leu) |
single nucleotide variant |
not provided [RCV003723686] |
Chr3:78659804 [GRCh38]
Chr3:78708954 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2883-12T>C |
single nucleotide variant |
not provided [RCV003700841] |
Chr3:78639910 [GRCh38]
Chr3:78689060 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2190G>A (p.Thr730=) |
single nucleotide variant |
not provided [RCV003727255] |
Chr3:78661160 [GRCh38]
Chr3:78710310 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3875+13T>C |
single nucleotide variant |
not provided [RCV003859099] |
Chr3:78627308 [GRCh38]
Chr3:78676458 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2298G>A (p.Lys766=) |
single nucleotide variant |
not provided [RCV003864832] |
Chr3:78661052 [GRCh38]
Chr3:78710202 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2592T>C (p.Ser864=) |
single nucleotide variant |
not provided [RCV003861467] |
Chr3:78657120 [GRCh38]
Chr3:78706270 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1363C>A (p.Pro455Thr) |
single nucleotide variant |
not provided [RCV003844555] |
Chr3:78670281 [GRCh38]
Chr3:78719431 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2615-17G>A |
single nucleotide variant |
not provided [RCV003848504] |
Chr3:78651946 [GRCh38]
Chr3:78701096 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4873A>G (p.Arg1625Gly) |
single nucleotide variant |
not provided [RCV003820335] |
Chr3:78600181 [GRCh38]
Chr3:78649331 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2614+18T>C |
single nucleotide variant |
not provided [RCV003844445] |
Chr3:78657080 [GRCh38]
Chr3:78706230 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4414C>T (p.Arg1472Cys) |
single nucleotide variant |
not provided [RCV003568530] |
Chr3:78614669 [GRCh38]
Chr3:78663819 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.85C>T (p.Pro29Ser) |
single nucleotide variant |
not provided [RCV003857562] |
Chr3:79589827 [GRCh38]
Chr3:79638977 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2237A>G (p.Asn746Ser) |
single nucleotide variant |
not provided [RCV003670574] |
Chr3:78661113 [GRCh38]
Chr3:78710263 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1630+10A>G |
single nucleotide variant |
not provided [RCV003869256] |
Chr3:78668474 [GRCh38]
Chr3:78717624 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.769_772del (p.Thr257fs) |
deletion |
not provided [RCV003869261] |
Chr3:78717769..78717772 [GRCh38]
Chr3:78766919..78766922 [GRCh37]
Chr3:3p12.3 |
pathogenic |
| NM_002941.4(ROBO1):c.4329C>T (p.Pro1443=) |
single nucleotide variant |
not provided [RCV003733157] |
Chr3:78614754 [GRCh38]
Chr3:78663904 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2460T>C (p.Asn820=) |
single nucleotide variant |
not provided [RCV003733158] |
Chr3:78657252 [GRCh38]
Chr3:78706402 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.296T>C (p.Ile99Thr) |
single nucleotide variant |
not provided [RCV003869699] |
Chr3:78938804 [GRCh38]
Chr3:78987954 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.16G>A (p.Val6Ile) |
single nucleotide variant |
not provided [RCV003728412] |
Chr3:79589896 [GRCh38]
Chr3:79639046 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4677C>T (p.Asp1559=) |
single nucleotide variant |
not provided [RCV003867668] |
Chr3:78606800 [GRCh38]
Chr3:78655950 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1355G>A (p.Arg452Gln) |
single nucleotide variant |
not provided [RCV003737669] |
Chr3:78670289 [GRCh38]
Chr3:78719439 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.1906G>A (p.Ala636Thr) |
single nucleotide variant |
not provided [RCV003566679] |
Chr3:78667943 [GRCh38]
Chr3:78717093 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4283-11T>C |
single nucleotide variant |
not provided [RCV003859988] |
Chr3:78614811 [GRCh38]
Chr3:78663961 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.311G>T (p.Gly104Val) |
single nucleotide variant |
not provided [RCV003821803] |
Chr3:78938789 [GRCh38]
Chr3:78987939 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4049G>C (p.Gly1350Ala) |
single nucleotide variant |
not provided [RCV003711130] |
Chr3:78617868 [GRCh38]
Chr3:78667018 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4950A>T (p.Glu1650Asp) |
single nucleotide variant |
not provided [RCV003684729] |
Chr3:78598919 [GRCh38]
Chr3:78648069 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3854T>G (p.Met1285Arg) |
single nucleotide variant |
not provided [RCV003722738] |
Chr3:78627342 [GRCh38]
Chr3:78676492 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4364T>C (p.Met1455Thr) |
single nucleotide variant |
not provided [RCV003722895] |
Chr3:78614719 [GRCh38]
Chr3:78663869 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1025C>A (p.Ser342Tyr) |
single nucleotide variant |
not provided [RCV003719577] |
Chr3:78714417 [GRCh38]
Chr3:78763567 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.3821T>C (p.Met1274Thr) |
single nucleotide variant |
not provided [RCV003867746] |
Chr3:78627375 [GRCh38]
Chr3:78676525 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2883-17A>T |
single nucleotide variant |
not provided [RCV003846093] |
Chr3:78639915 [GRCh38]
Chr3:78689065 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2203A>T (p.Ser735Cys) |
single nucleotide variant |
not provided [RCV003721887] |
Chr3:78661147 [GRCh38]
Chr3:78710297 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1628A>C (p.Gln543Pro) |
single nucleotide variant |
not provided [RCV003721890] |
Chr3:78668486 [GRCh38]
Chr3:78717636 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2839+13_2839+18del |
deletion |
not provided [RCV003844020] |
Chr3:78647611..78647616 [GRCh38]
Chr3:78696761..78696766 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3627-17C>T |
single nucleotide variant |
not provided [RCV003863544] |
Chr3:78627586 [GRCh38]
Chr3:78676736 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.2883G>A (p.Arg961=) |
single nucleotide variant |
not provided [RCV003732315] |
Chr3:78639898 [GRCh38]
Chr3:78689048 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1116T>A (p.Cys372Ter) |
single nucleotide variant |
not provided [RCV003681267] |
Chr3:78688702 [GRCh38]
Chr3:78737852 [GRCh37]
Chr3:3p12.3 |
pathogenic |
| NM_002941.4(ROBO1):c.4435+16C>T |
single nucleotide variant |
not provided [RCV003864205] |
Chr3:78614632 [GRCh38]
Chr3:78663782 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4540A>G (p.Met1514Val) |
single nucleotide variant |
not provided [RCV003712225] |
Chr3:78606937 [GRCh38]
Chr3:78656087 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1942A>G (p.Ile648Val) |
single nucleotide variant |
not provided [RCV003670763] |
Chr3:78667907 [GRCh38]
Chr3:78717057 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2201A>G (p.Asn734Ser) |
single nucleotide variant |
not provided [RCV003858526] |
Chr3:78661149 [GRCh38]
Chr3:78710299 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.907C>T (p.Pro303Ser) |
single nucleotide variant |
not provided [RCV003731355] |
Chr3:78717285 [GRCh38]
Chr3:78766435 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.2089-12T>C |
single nucleotide variant |
not provided [RCV003846591] |
Chr3:78661273 [GRCh38]
Chr3:78710423 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.630A>G (p.Pro210=) |
single nucleotide variant |
not provided [RCV003858517] |
Chr3:78746770 [GRCh38]
Chr3:78795920 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4002C>T (p.Ala1334=) |
single nucleotide variant |
ROBO1-related condition [RCV003944688] |
Chr3:78617915 [GRCh38]
Chr3:78667065 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.4283-9del |
deletion |
ROBO1-related condition [RCV003984558] |
Chr3:78614809 [GRCh38]
Chr3:78663959 [GRCh37]
Chr3:3p12.3 |
benign |
| NM_002941.4(ROBO1):c.4827A>G (p.Ser1609=) |
single nucleotide variant |
ROBO1-related condition [RCV003959255] |
Chr3:78600227 [GRCh38]
Chr3:78649377 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.779-8A>G |
single nucleotide variant |
ROBO1-related condition [RCV003946909] |
Chr3:78717421 [GRCh38]
Chr3:78766571 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.173-79487C>G |
single nucleotide variant |
ROBO1-related condition [RCV003964612] |
Chr3:79018414 [GRCh38]
Chr3:79067564 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.396A>C (p.Ile132=) |
single nucleotide variant |
ROBO1-related condition [RCV003961626] |
Chr3:78938704 [GRCh38]
Chr3:78987854 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.3166C>A (p.Pro1056Thr) |
single nucleotide variant |
ROBO1-related condition [RCV003906948] |
Chr3:78635980 [GRCh38]
Chr3:78685130 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.455dup (p.Tyr152Ter) |
duplication |
ROBO1-related condition [RCV003917042] |
Chr3:78938644..78938645 [GRCh38]
Chr3:78987794..78987795 [GRCh37]
Chr3:3p12.3 |
likely pathogenic |
| NM_002941.4(ROBO1):c.3590G>C (p.Ser1197Thr) |
single nucleotide variant |
ROBO1-related condition [RCV003976904] |
Chr3:78631197 [GRCh38]
Chr3:78680347 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.1779T>G (p.Ser593=) |
single nucleotide variant |
ROBO1-related condition [RCV003943901] |
Chr3:78668154 [GRCh38]
Chr3:78717304 [GRCh37]
Chr3:3p12.3 |
likely benign |
| NM_002941.4(ROBO1):c.394A>G (p.Ile132Val) |
single nucleotide variant |
ROBO1-related condition [RCV003954687] |
Chr3:78938706 [GRCh38]
Chr3:78987856 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.205C>T (p.Arg69Cys) |
single nucleotide variant |
ROBO1-related condition [RCV003901472] |
Chr3:78938895 [GRCh38]
Chr3:78988045 [GRCh37]
Chr3:3p12.3 |
uncertain significance |
| NM_002941.4(ROBO1):c.4131C>T (p.Ala1377=) |
single nucleotide variant |
ROBO1-related condition [RCV003896780] |
Chr3:78617786 [GRCh38]
Chr3:78666936 [GRCh37]
Chr3:3p12.3 |
likely benign |
