Total 53 pathogenic variants reported for Gaze palsy, familial horizontal, with progressive scoliosis 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu) SNV
Germline		 Chr11:124871062 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA115383 rs_121918270

2 SubmittersRCV000002256
NM_022370.4(ROBO3):c.2108G>C (p.Arg703Pro) SNV
Germline		 Chr11:124875145 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA115384 rs_121918271

2 SubmittersRCV000002258
NM_022370.4(ROBO3):c.2113T>C (p.Ser705Pro) SNV
Germline		 Chr11:124875150 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA115385 rs_121918272

2 SubmittersRCV000002259
NM_022370.4(ROBO3):c.1366G>T (p.Gly456Ter) SNV
Germline		 Chr11:124872919 Pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 No Assertion Criteria Provided
 CA115386 rs_121918273

1 SubmittersRCV000002260
NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys) SNV
Germline		 Chr11:124870650 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA115388 rs_121918274

2 SubmittersRCV000002261
NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro) SNV
Germline		 Chr11:124865591 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA115389 rs_121918275

2 SubmittersRCV000002263
NM_022370.4(ROBO3):c.196A>C (p.Ile66Leu) SNV
Germline		 Chr11:124868837 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA115390 rs_121918276

2 SubmittersRCV000002264
NM_022370.4(ROBO3):c.2073+1G>A SNV
Germline		 Chr11:124874910 Pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 No Assertion Criteria Provided
 CA383146510 rs_1565312616

1 SubmittersRCV000002265
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp) SNV
Germline		 Chr11:124870035 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA115391 rs_121918277

3 SubmittersRCV000002268
NM_022370.4(ROBO3):c.2317C>T (p.Gln773Ter) SNV
Germline		 Chr11:124875581 Pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 No Assertion Criteria Provided
 CA115393 rs_121918278

1 SubmittersRCV000002269
NM_022370.4(ROBO3):c.2020C>T (p.Arg674Cys) SNV
Germline		 Chr11:124874856 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3-related disorder		 Criteria Provided
Conflicting Classifications
 CA358226 rs_201405429

4 SubmittersRCV000210705RCV000934006RCV001108192RCV003907783
NM_022370.4(ROBO3):c.637A>C (p.Arg213=) SNV
Germline		 Chr11:124869599 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6343227 rs_373366899

2 SubmittersRCV000276630RCV003422243
NM_022370.4(ROBO3):c.850G>A (p.Asp284Asn) SNV
Germline		 Chr11:124870248 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6343311 rs_142090631

5 SubmittersRCV000375620RCV000891488RCV002520687
NM_022370.4(ROBO3):c.968C>T (p.Thr323Met) SNV
Germline		 Chr11:124870663 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided
Inborn genetic diseases
ROBO3-related disorder		 Criteria Provided
Conflicting Classifications
 CA6343359 rs_151168595

5 SubmittersRCV000278669RCV000974532RCV002520688RCV003910110
NM_022370.4(ROBO3):c.1542G>A (p.Met514Ile) SNV
Germline		 Chr11:124873315 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6343526 rs_200197609

5 SubmittersRCV000369574RCV000908199RCV002520689
NM_022370.4(ROBO3):c.3567T>C (p.Ser1189=) SNV
Germline		 Chr11:124879223 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6344195 rs_201358102

2 SubmittersRCV000289775RCV000970237
NM_022370.4(ROBO3):c.4116C>A (p.Ser1372Arg) SNV
Germline		 Chr11:124880575 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided
Inborn genetic diseases
not specified
ROBO3-related disorder		 Criteria Provided
Conflicting Classifications
 CA6344385 rs_139835890

6 SubmittersRCV000264701RCV000882837RCV002520690RCV005646902RCV003920244
NM_022370.4(ROBO3):c.1752T>G (p.Ala584=) SNV
Germline		 Chr11:124873830 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6343580 rs_778743655

2 SubmittersRCV000262102RCV000899186
NM_022370.4(ROBO3):c.2310C>T (p.Gly770=) SNV
Germline		 Chr11:124875574 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6343756 rs_200678379

3 SubmittersRCV000340464RCV000896603
NM_022370.4(ROBO3):c.3780G>A (p.Arg1260=) SNV
Germline		 Chr11:124879559 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6344261 rs_369974414

2 SubmittersRCV000350369RCV000897292
NM_022370.4(ROBO3):c.3922G>A (p.Val1308Met) SNV
Germline		 Chr11:124879912 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6344324 rs_752717878

2 SubmittersRCV000397211RCV002522183
NM_022370.4(ROBO3):c.4098T>C (p.Ser1366=) SNV
Germline		 Chr11:124880557 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6344380 rs_55725290

2 SubmittersRCV000361757RCV003422245
NM_022370.4(ROBO3):c.2993G>T (p.Gly998Val) SNV
Germline		 Chr11:124877943 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided
ROBO3-related disorder
Clear cell carcinoma of kidney
Malignant tumor of urinary bladder
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA6344020 rs_75098003

4 SubmittersRCV000360788RCV000888335RCV003920243RCV005892941RCV005892940RCV005892939
NM_022370.4(ROBO3):c.3921C>T (p.Ala1307=) SNV
Germline		 Chr11:124879911 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6344323 rs_374359013

3 SubmittersRCV000334957RCV000908370
NM_022370.4(ROBO3):c.1379A>G (p.Gln460Arg) SNV
Germline		 Chr11:124872932 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
not specified		 Criteria Provided
Conflicting Classifications
 CA6343478 rs_771613910

2 SubmittersRCV000779048RCV006269001
NM_022370.4(ROBO3):c.3525G>A (p.Gln1175=) SNV
Germline		 Chr11:124878788 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6344172 rs_199650068

2 SubmittersRCV001108300RCV000908200
NM_022370.4(ROBO3):c.1194G>A (p.Thr398=) SNV
Germline		 Chr11:124872416 Conflicting classifications of pathogenicity Condition: not provided
Gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3-related disorder		 Criteria Provided
Conflicting Classifications
 CA6343435 rs_369032140

3 SubmittersRCV000924015RCV001104817RCV003978055
NM_022370.4(ROBO3):c.3836C>T (p.Ala1279Val) SNV
Germline		 Chr11:124879826 Conflicting classifications of pathogenicity Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6344300 rs_201702041

3 SubmittersRCV001105005RCV003425924RCV004032106
NM_022370.4(ROBO3):c.767-1G>A SNV
Germline		 Chr11:124870164 Pathogenic/Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA383137883 rs_1946261580

2 SubmittersRCV001251134
NM_022370.4(ROBO3):c.2312C>T (p.Pro771Leu) SNV
Germline		 Chr11:124875576 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA383147639 rs_1946347156

3 SubmittersRCV001290386
NM_022370.4(ROBO3):c.2663T>C (p.Leu888Pro) SNV
Germline		 Chr11:124876344 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA383149204 rs_1946370497

1 SubmittersRCV001290387
NM_022370.4(ROBO3):c.1433C>T (p.Pro478Leu) SNV
Germline		 Chr11:124872986 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA6343490 rs_767693909

1 SubmittersRCV001290389
NM_022370.4(ROBO3):c.1450T>C (p.Trp484Arg) SNV
Germline		 Chr11:124873003 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA383142533 rs_1946299628

1 SubmittersRCV001290390
NM_022370.4(ROBO3):c.1726T>C (p.Trp576Arg) SNV
Germline		 Chr11:124873804 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA383144954 rs_1946311947

1 SubmittersRCV001290391
NM_022370.4(ROBO3):c.1158G>C (p.Gln386His) SNV
Germline		 Chr11:124871138 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA383139974 rs_1286915599

1 SubmittersRCV001290392
NM_022370.4(ROBO3):c.271C>T (p.Pro91Ser) SNV
Germline		 Chr11:124868912 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA383134146 rs_1946240450

1 SubmittersRCV001290394
NM_022370.4(ROBO3):c.416G>T (p.Gly139Val) SNV
Germline		 Chr11:124869057 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA383135228 rs_1946243211

1 SubmittersRCV001290397
NM_022370.4(ROBO3):c.335G>C (p.Arg112Pro) SNV
Germline		 Chr11:124868976 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA383134563 rs_1946241537

1 SubmittersRCV001290406
NM_022370.4(ROBO3):c.284T>C (p.Ile95Thr) SNV
Germline		 Chr11:124868925 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA383134188 rs_1946240617

2 SubmittersRCV001290407RCV004719126
NM_022370.4(ROBO3):c.3493C>T (p.Gln1165Ter) SNV
Germline		 Chr11:124878756 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA383156620 rs_2497318651

1 SubmittersRCV003338106
NM_022370.4(ROBO3):c.3937C>T (p.Gln1313Ter) SNV
Germline		 Chr11:124879927 Likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter
 CA230397937 rs_1055813191

1 SubmittersRCV003988760
NM_022370.4(ROBO3):c.799C>T (p.Gln267Ter) SNV
Germline		 Chr11:124870197 Pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 Criteria Provided
Single Submitter

1 SubmittersRCV005408494