A total 193 pathogenic variants reported in gene SET binding protein 1 (SETBP1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) SNV
Germline		 Chr18:44951952 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Intellectual disability, autosomal dominant 29
SETBP1-related disorder		 Criteria Provided
Conflicting Classifications
 CA114715 rs_267607038

12 SubmittersRCV000001086RCV000255245RCV000855501RCV001007919RCV004532268
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) SNV
Germline		 Chr18:44951942 Pathogenic Schinzel-Giedion syndrome
Condition: not provided
Schinzel-Giedion syndrome
Intellectual disability, autosomal dominant 29
Intellectual disability, autosomal dominant 29
SETBP1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114716 rs_267607042

6 SubmittersRCV000001087RCV000727534RCV000850599RCV003147272RCV004532269
NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala) SNV
Germline		 Chr18:44951943 Pathogenic Schinzel-Giedion syndrome No Assertion Criteria Provided
 CA114717 rs_267607041

1 SubmittersRCV000001088
NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp) SNV
Germline		 Chr18:44951949 Pathogenic Schinzel-Giedion syndrome Criteria Provided
Single Submitter
 CA114718 rs_267607039

2 SubmittersRCV000001089
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) SNV
Germline		 Chr18:44951948 Pathogenic Schinzel-Giedion syndrome
Condition: not provided
SETBP1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114719 rs_267607040

11 SubmittersRCV000001090RCV001659675RCV004532270
NM_015559.3(SETBP1):c.1596G>A (p.Trp532Ter) SNV
Germline		 Chr18:44950936 Pathogenic Intellectual disability, autosomal dominant 29 No Assertion Criteria Provided
 CA170959 rs_672601342

1 SubmittersRCV000144901
NM_015559.3(SETBP1):c.3032C>G (p.Ser1011Ter) SNV
Germline		 Chr18:44952372 Pathogenic Intellectual disability, autosomal dominant 29 No Assertion Criteria Provided
 CA170961 rs_606231270

1 SubmittersRCV000144902
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) SNV
Germline		 Chr18:44951213 Pathogenic Intellectual disability, autosomal dominant 29
Condition: not provided
Intellectual disability, autosomal dominant 29
Schinzel-Giedion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170964 rs_606231272

8 SubmittersRCV000144904RCV000255831RCV000760256
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) SNV
Germline		 Chr18:44951216 Pathogenic Intellectual disability, autosomal dominant 29
Condition: not provided
SETBP1-related disorder
Intellectual disability, autosomal dominant 29
Schinzel-Giedion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170966 rs_606231273

6 SubmittersRCV000144905RCV000333880RCV004532637RCV000763028
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys) SNV
Germline		 Chr18:44701392 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA173411 rs_587784381

4 SubmittersRCV000147470RCV002055930RCV003258669
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly) SNV
Germline		 Chr18:44950563 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA173384 rs_587784380

3 SubmittersRCV000147455RCV001850002
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=) SNV
Germline		 Chr18:44950843 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA173386 rs_374300895

2 SubmittersRCV000147456RCV002055928
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) SNV
Germline		 Chr18:44951272 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA173388 rs_3744824

4 SubmittersRCV000147457RCV000864285RCV000516570
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) SNV
Germline		 Chr18:44951942 Pathogenic/Likely pathogenic Schinzel-Giedion syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA173390 rs_267607042

2 SubmittersRCV000147458
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) SNV
Germline		 Chr18:45063461 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA173407 rs_574196735

7 SubmittersRCV000147468RCV000455335RCV001618301
NM_015559.3(SETBP1):c.2358C>T (p.Ser786=) SNV
Germline		 Chr18:44951698 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10641437 rs_886053793

2 SubmittersRCV000373845RCV002057446
NM_015559.3(SETBP1):c.487-1G>A SNV
Germline		 Chr18:44869229 Conflicting classifications of pathogenicity Condition: not provided
Intellectual disability, autosomal dominant 29		 Criteria Provided
Conflicting Classifications
 CA8945403 rs_147805077

4 SubmittersRCV000494550RCV001706646
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) SNV
Germline		 Chr18:44951952 Pathogenic Condition: not provided
Schinzel-Giedion syndrome		 Criteria Provided
Single Submitter
 CA402321823 rs_267607038

3 SubmittersRCV000509340RCV001007402
NM_015559.3(SETBP1):c.4001-7T>A SNV
Germline		 Chr18:45038478 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA8946058 rs_767918557

2 SubmittersRCV000512662
NM_015559.3(SETBP1):c.821G>A (p.Trp274Ter) SNV
Germline		 Chr18:44950161 Pathogenic Condition: not provided
Intellectual disability, autosomal dominant 29		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402316903 rs_1555705966

3 SubmittersRCV000579196RCV001265337
NM_015559.3(SETBP1):c.1264C>T (p.Gln422Ter) SNV
Germline		 Chr18:44950604 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA402318152 rs_1555706333

1 SubmittersRCV000578562
NM_015559.3(SETBP1):c.2308G>A (p.Ala770Thr) SNV
Germline		 Chr18:44951648 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA402320861 rs_199810775

2 SubmittersRCV000623296RCV002531907
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) SNV
Germline		 Chr18:44951912 Pathogenic/Likely pathogenic Inborn genetic diseases
Intellectual disability, autosomal dominant 29
Condition: not provided
Schinzel-Giedion syndrome
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402321729 rs_1178702025

7 SubmittersRCV000622281RCV001265286RCV001591399RCV002470936RCV003128414
NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) SNV
Unknown		 Chr18:44951954 Likely pathogenic 8 conditions Criteria Provided
Single Submitter
 CA402321825 rs_1555706928

1 SubmittersRCV000626930
NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met) SNV
Germline		 Chr18:45038644 Conflicting classifications of pathogenicity Macrocephaly
Generalized joint hypermobility
Joint laxity
Delayed speech and language development
Seizure
Intellectual disability, autosomal dominant 29
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8946090 rs_200881888

2 SubmittersRCV000626931RCV001199253RCV001868164
NM_015559.3(SETBP1):c.1633G>T (p.Glu545Ter) SNV
Germline		 Chr18:44950973 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA402318942 rs_1555706476

1 SubmittersRCV000627281
NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser) SNV
Germline		 Chr18:44950005 Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
Schinzel-Giedion syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_761385178

2 SubmittersRCV000662030RCV000662031RCV002060791
NM_015559.3(SETBP1):c.1198G>A (p.Val400Ile) SNV
Germline		 Chr18:44950538 Conflicting classifications of pathogenicity Intellectual disability
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000681498RCV001771927
NM_015559.3(SETBP1):c.3961C>T (p.Arg1321Cys) SNV
Germline		 Chr18:44953301 Conflicting classifications of pathogenicity Intellectual disability
Condition: not provided		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV000681503RCV001788324
NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter) SNV
Germline		 Chr18:44701611 Pathogenic Condition: not provided
Intellectual disability, autosomal dominant 29		 Criteria Provided
Single Submitter
 rs_1568097623

2 SubmittersRCV000760733RCV001265338
NM_015559.3(SETBP1):c.666G>A (p.Trp222Ter) SNV
Germline		 Chr18:44950006 Pathogenic Condition: not provided
Intellectual disability, autosomal dominant 29		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1391600900

2 SubmittersRCV000760674RCV003313977
NM_015559.3(SETBP1):c.1630C>T (p.Arg544Ter) SNV
Germline		 Chr18:44950970 Pathogenic Condition: not provided
Intellectual disability, autosomal dominant 29		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1568234874

2 SubmittersRCV000760951RCV001194625
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) SNV
Germline		 Chr18:44951105 Pathogenic Intellectual disability, autosomal dominant 29
Condition: not provided
Intellectual disability, autosomal dominant 29
Schinzel-Giedion syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1568235086

8 SubmittersRCV001265285RCV000760784RCV001816816RCV004027175
NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys) SNV
Germline		 Chr18:45063678 Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_759235645

2 SubmittersRCV000784992RCV002068543
NM_015559.3(SETBP1):c.2665C>T (p.Arg889Ter) SNV
Germline		 Chr18:44952005 Pathogenic Abnormality of the nervous system
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1599368734

3 SubmittersRCV001836885RCV003768469
NM_015559.3(SETBP1):c.1703G>T (p.Ser568Ile) SNV
Somatic		 Chr18:44951043 Likely pathogenic Lymphoma No Assertion Criteria Provided
 rs_1599367044

1 SubmittersRCV000790859
NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys) SNV
Germline		 Chr18:44952395 Conflicting classifications of pathogenicity Condition: not provided
Intellectual disability, autosomal dominant 29		 Criteria Provided
Conflicting Classifications
 rs_767260608

3 SubmittersRCV001873235RCV000791127
NM_015559.3(SETBP1):c.3593C>T (p.Pro1198Leu) SNV
Germline		 Chr18:44952933 Conflicting classifications of pathogenicity Condition: not provided
Intellectual disability, autosomal dominant 29
SETBP1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_200960707

3 SubmittersRCV000886498RCV001291723RCV004735863
NM_015559.3(SETBP1):c.927C>A (p.Asn309Lys) SNV
Germline		 Chr18:44950267 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_199603131

2 SubmittersRCV000905741
NM_015559.3(SETBP1):c.3832C>G (p.Leu1278Val) SNV
Germline		 Chr18:44953172 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_751429016

2 SubmittersRCV000990089RCV002549735
NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln) SNV
Germline		 Chr18:45063109 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
Condition: not provided
SETBP1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_775975116

3 SubmittersRCV000990091RCV002549736RCV004528324
NM_015559.3(SETBP1):c.584C>T (p.Thr195Met) SNV
Germline		 Chr18:44949924 Conflicting classifications of pathogenicity Condition: not provided
Intellectual disability, autosomal dominant 29
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_755852977

4 SubmittersRCV000996681RCV001836928RCV004962988
NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter) SNV
Germline		 Chr18:44951765 Pathogenic Intellectual disability, autosomal dominant 29 Criteria Provided
Single Submitter
 rs_1599368323

1 SubmittersRCV000995868
NM_015559.3(SETBP1):c.1388G>A (p.Arg463His) SNV
Germline		 Chr18:44950728 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_781159539

3 SubmittersRCV001090349RCV004031222
NM_015559.3(SETBP1):c.3198C>A (p.Tyr1066Ter) SNV
Unknown		 Chr18:44952538 Pathogenic Intellectual disability, autosomal dominant 29 Criteria Provided
Single Submitter
 rs_373264085

1 SubmittersRCV001198532
NM_015559.3(SETBP1):c.1190C>A (p.Ser397Ter) SNV
Germline		 Chr18:44950530 Pathogenic Intellectual disability, autosomal dominant 29 No Assertion Criteria Provided
 rs_2071318911

1 SubmittersRCV001252617
NM_015559.3(SETBP1):c.3876C>G (p.Asp1292Glu) SNV
Germline		 Chr18:44953216 Conflicting classifications of pathogenicity Condition: not provided
Intellectual disability, autosomal dominant 29		 Criteria Provided
Conflicting Classifications
 rs_139106261

3 SubmittersRCV001562055RCV004799398
NM_015559.3(SETBP1):c.556C>T (p.Gln186Ter) SNV
Germline		 Chr18:44949896 Likely pathogenic Intellectual disability Criteria Provided
Single Submitter
 rs_2071295138

1 SubmittersRCV001257735
NM_015559.3(SETBP1):c.2621A>G (p.Asp874Gly) SNV
Germline		 Chr18:44951961 Pathogenic Intellectual disability, autosomal dominant 29 No Assertion Criteria Provided
 rs_2071364489

1 SubmittersRCV001265287
NM_015559.3(SETBP1):c.4000+2T>G SNV
Germline		 Chr18:44953342 Likely pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 rs_2071410989

1 SubmittersRCV001265680
NM_015559.3(SETBP1):c.4034C>G (p.Thr1345Arg) SNV
Germline		 Chr18:45038518 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_148195272

3 SubmittersRCV001267030RCV002272439
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr) SNV
Germline		 Chr18:44951901 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_2071362354

2 SubmittersRCV001270830RCV003353268
NM_015559.3(SETBP1):c.1243A>T (p.Asn415Tyr) SNV
Germline		 Chr18:44950583 Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_780597341

2 SubmittersRCV001332085RCV003120556
NM_015559.3(SETBP1):c.1141T>G (p.Ser381Ala) SNV
Germline		 Chr18:44950481 Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1273193718

2 SubmittersRCV001335763RCV003770859
NM_015559.3(SETBP1):c.1910C>A (p.Pro637Gln) SNV
Germline		 Chr18:44951250 Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1011541536

2 SubmittersRCV001335764RCV001871876
NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly) SNV
Germline		 Chr18:44951457 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_530739140

4 SubmittersRCV001354400
NM_015559.3(SETBP1):c.2879T>G (p.Leu960Arg) SNV
Germline		 Chr18:44952219 Likely pathogenic Intellectual disability, autosomal dominant 29 Criteria Provided
Single Submitter
 rs_2145108363

1 SubmittersRCV001376162
NM_015559.3(SETBP1):c.1777C>T (p.Gln593Ter) SNV
Germline		 Chr18:44951117 Pathogenic Intellectual disability, autosomal dominant 29 No Assertion Criteria Provided
 rs_2145100544

1 SubmittersRCV001788513
NM_015559.3(SETBP1):c.165G>A (p.Met55Ile) SNV
Germline		 Chr18:44701511 Conflicting classifications of pathogenicity Schinzel-Giedion syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_778818507

3 SubmittersRCV001542386RCV002570657RCV004968206
NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter) SNV
Germline		 Chr18:44952322 Likely pathogenic Schinzel-Giedion syndrome No Assertion Criteria Provided
 rs_2071377438

1 SubmittersRCV001542795
NM_015559.3(SETBP1):c.160C>T (p.Arg54Cys) SNV
Germline		 Chr18:44701506 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_1325528399

2 SubmittersRCV001774435
NM_015559.3(SETBP1):c.2148C>T (p.Ser716=) SNV
Germline		 Chr18:44951488 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_762804357

2 SubmittersRCV001763959
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr) SNV
Germline		 Chr18:44951903 Conflicting classifications of pathogenicity Condition: not provided
Schinzel-Giedion syndrome
Intellectual disability, autosomal dominant 29		 Criteria Provided
Conflicting Classifications
 rs_2145105580

3 SubmittersRCV001774622RCV003333176RCV003333177
NM_015559.3(SETBP1):c.4642C>G (p.Pro1548Ala) SNV
Germline		 Chr18:45063549 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_1274960889

2 SubmittersRCV001794823
NM_015559.3(SETBP1):c.4273A>T (p.Lys1425Ter) SNV
Germline		 Chr18:45063180 Likely pathogenic Intellectual disability, autosomal dominant 29 Criteria Provided
Single Submitter
 rs_2145592791

1 SubmittersRCV001808016
NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu) SNV
Germline		 Chr18:44701408 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_758194735

2 SubmittersRCV001814765
NM_015559.3(SETBP1):c.1963C>T (p.Leu655Phe) SNV
Germline		 Chr18:44951303 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_764969329

2 SubmittersRCV001820421RCV002074333
NM_015559.3(SETBP1):c.2842C>T (p.Arg948Cys) SNV
Germline		 Chr18:44952182 Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_751366974

3 SubmittersRCV001837263RCV002034698
NM_015559.3(SETBP1):c.2741G>A (p.Arg914Gln) SNV
Germline		 Chr18:44952081 Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
Condition: not provided
Inborn genetic diseases
SETBP1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_777653524

4 SubmittersRCV001839298RCV002074398RCV004041043RCV004529023
NM_015559.3(SETBP1):c.4058G>T (p.Gly1353Val) SNV
Germline		 Chr18:45038542 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
SETBP1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1486460574

5 SubmittersRCV001919376RCV002558444RCV004734346
NM_015559.3(SETBP1):c.4166A>G (p.Asp1389Gly) SNV
Germline		 Chr18:45038650 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_2145495807

2 SubmittersRCV002004360
NM_015559.3(SETBP1):c.1492C>T (p.Arg498Trp) SNV
Germline		 Chr18:44950832 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_548105094

3 SubmittersRCV001949167RCV002562184
NM_015559.3(SETBP1):c.1747G>A (p.Val583Ile) SNV
Germline		 Chr18:44951087 Conflicting classifications of pathogenicity Condition: not provided
Intellectual disability, autosomal dominant 29		 Criteria Provided
Conflicting Classifications
 rs_1000055196

2 SubmittersRCV001894261RCV002510597
NM_015559.3(SETBP1):c.161G>T (p.Arg54Leu) SNV
Germline		 Chr18:44701507 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_140717709

2 SubmittersRCV001884421
NM_015559.3(SETBP1):c.3427T>C (p.Ser1143Pro) SNV
Germline		 Chr18:44952767 Conflicting classifications of pathogenicity Condition: not provided
See cases		 Criteria Provided
Conflicting Classifications
 rs_762890510

3 SubmittersRCV001992538RCV003232478
NM_015559.3(SETBP1):c.3175C>T (p.Pro1059Ser) SNV
Germline		 Chr18:44952515 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_1224731205

2 SubmittersRCV001944502
NM_015559.3(SETBP1):c.4104C>G (p.Asp1368Glu) SNV
Germline		 Chr18:45038588 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_566235193

2 SubmittersRCV001944572RCV004968386
NM_015559.3(SETBP1):c.486+1G>T SNV
Germline		 Chr18:44701833 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 rs_2144199518

1 SubmittersRCV002029064
NM_015559.3(SETBP1):c.4696C>T (p.Gln1566Ter) SNV
Germline		 Chr18:45063603 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_2073927340

2 SubmittersRCV001983214
NM_015559.3(SETBP1):c.1910C>T (p.Pro637Leu) SNV
Germline		 Chr18:44951250 Conflicting classifications of pathogenicity Condition: not provided
SETBP1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1011541536

4 SubmittersRCV001995395RCV004538702
NM_015559.3(SETBP1):c.4175G>C (p.Gly1392Ala) SNV
Germline		 Chr18:45063082 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_773392085

3 SubmittersRCV002025771RCV002657705
NM_015559.3(SETBP1):c.4307C>T (p.Ala1436Val) SNV
Germline		 Chr18:45063214 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
SETBP1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_373986368

4 SubmittersRCV001899456RCV004040513RCV004536395
NM_015559.3(SETBP1):c.928G>A (p.Gly310Arg) SNV
Germline		 Chr18:44950268 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1425063196

2 SubmittersRCV001926929RCV004044285
NM_015559.3(SETBP1):c.1424C>A (p.Ser475Tyr) SNV
Germline		 Chr18:44950764 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1490796232

2 SubmittersRCV001920156RCV004041625
NM_015559.3(SETBP1):c.2212C>T (p.Pro738Ser) SNV
Germline		 Chr18:44951552 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1160869968

3 SubmittersRCV002040409RCV004956132
NM_015559.3(SETBP1):c.4389G>C (p.Gln1463His) SNV
Germline		 Chr18:45063296 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
SETBP1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1019850669

3 SubmittersRCV001967167RCV003167318RCV004538638
NM_015559.3(SETBP1):c.1598C>T (p.Thr533Ile) SNV
Germline		 Chr18:44950938 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_2145099229

2 SubmittersRCV002003398
NM_015559.3(SETBP1):c.2753G>A (p.Arg918Gln) SNV
Germline		 Chr18:44952093 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_781033681

2 SubmittersRCV001905578
NM_015559.3(SETBP1):c.3511A>C (p.Ser1171Arg) SNV
Germline		 Chr18:44952851 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_147540466

2 SubmittersRCV001900749RCV004699520
NM_015559.3(SETBP1):c.4205G>A (p.Arg1402Gln) SNV
Germline		 Chr18:45063112 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_371946489

2 SubmittersRCV001906508
NM_015559.3(SETBP1):c.200G>A (p.Arg67Gln) SNV
Germline		 Chr18:44701546 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_778196366

2 SubmittersRCV002049322
NM_015559.3(SETBP1):c.2864C>A (p.Ala955Glu) SNV
Germline		 Chr18:44952204 Conflicting classifications of pathogenicity Condition: not provided
SETBP1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_570984485

3 SubmittersRCV001940405RCV004734341RCV004955848
NM_015559.3(SETBP1):c.2480G>A (p.Trp827Ter) SNV
Germline		 Chr18:44951820 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 rs_2145105037

1 SubmittersRCV001984593
NM_015559.3(SETBP1):c.2915G>A (p.Arg972Gln) SNV
Germline		 Chr18:44952255 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_759901142

3 SubmittersRCV001907732
NM_015559.3(SETBP1):c.4102G>A (p.Asp1368Asn) SNV
Germline		 Chr18:45038586 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_370218399

2 SubmittersRCV001914146RCV004970530
NM_015559.3(SETBP1):c.3860C>T (p.Ser1287Leu) SNV
Germline		 Chr18:44953200 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_771332971

2 SubmittersRCV002100171
NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg) SNV
Germline		 Chr18:44953071 Conflicting classifications of pathogenicity Condition: not provided
SETBP1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_201474295

4 SubmittersRCV002118126RCV004543823
NM_015559.3(SETBP1):c.4234C>G (p.Arg1412Gly) SNV
Germline		 Chr18:45063141 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_145996171

2 SubmittersRCV002146351
NM_015559.3(SETBP1):c.3485G>A (p.Arg1162Gln) SNV
Germline		 Chr18:44952825 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_751046263

2 SubmittersRCV002117537
NM_015559.3(SETBP1):c.934C>T (p.Gln312Ter) SNV
Germline		 Chr18:44950274 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 rs_2145094562

1 SubmittersRCV002224749
NM_015559.3(SETBP1):c.4469G>C (p.Ser1490Thr) SNV
Germline		 Chr18:45063376 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 rs_1193044740

2 SubmittersRCV002244437
NM_015559.3(SETBP1):c.2322A>G (p.Ala774=) SNV
Germline		 Chr18:44951662 Conflicting classifications of pathogenicity Condition: not provided
Intellectual disability, autosomal dominant 29
Schinzel-Giedion syndrome		 Criteria Provided
Conflicting Classifications
 rs_2145104146

2 SubmittersRCV002263121RCV004729124
NM_015559.3(SETBP1):c.4619C>T (p.Pro1540Leu) SNV
Germline		 Chr18:45063526 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1037280105

3 SubmittersRCV002273649RCV004047493
NM_015559.3(SETBP1):c.2984C>T (p.Pro995Leu) SNV
Germline		 Chr18:44952324 Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
not specified
Schinzel-Giedion syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002465468RCV004700765RCV004577020
NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg) SNV
Germline		 Chr18:44951941 Pathogenic/Likely pathogenic Schinzel-Giedion syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002510727RCV003443062
NM_015559.3(SETBP1):c.1172G>A (p.Ser391Asn) SNV
Germline		 Chr18:44950512 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002756782RCV002756783
NM_015559.3(SETBP1):c.486+1G>A SNV
Germline		 Chr18:44701833 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV002824337
NM_015559.3(SETBP1):c.2722G>A (p.Asp908Asn) SNV
Germline		 Chr18:44952062 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV002881161
NM_015559.3(SETBP1):c.2740C>T (p.Arg914Trp) SNV
Germline		 Chr18:44952080 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV002890592
NM_015559.3(SETBP1):c.3440T>C (p.Leu1147Pro) SNV
Germline		 Chr18:44952780 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002903045RCV002903046
NM_015559.3(SETBP1):c.470G>A (p.Ser157Asn) SNV
Germline		 Chr18:44701816 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV002908450
NM_015559.3(SETBP1):c.4580C>T (p.Pro1527Leu) SNV
Germline		 Chr18:45063487 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV002922014
NM_015559.3(SETBP1):c.1844G>A (p.Arg615Gln) SNV
Germline		 Chr18:44951184 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV002958602
NM_015559.3(SETBP1):c.1814C>A (p.Thr605Asn) SNV
Germline		 Chr18:44951154 Conflicting classifications of pathogenicity Condition: not provided
Intellectual disability, autosomal dominant 29
Schinzel-Giedion syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002971950RCV003883205RCV004958896
NM_015559.3(SETBP1):c.3847G>C (p.Glu1283Gln) SNV
Germline		 Chr18:44953187 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV003034823
NM_015559.3(SETBP1):c.4594C>A (p.Pro1532Thr) SNV
Germline		 Chr18:45063501 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV003048626
NM_015559.3(SETBP1):c.1537T>C (p.Ser513Pro) SNV
Germline		 Chr18:44950877 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002697350RCV003574986
NM_015559.3(SETBP1):c.3712G>A (p.Asp1238Asn) SNV
Germline		 Chr18:44953052 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
SETBP1-related disorder		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002997753RCV003548937RCV004736296
NM_015559.3(SETBP1):c.1588C>T (p.Arg530Ter) SNV
Germline		 Chr18:44950928 Pathogenic Developmental disorder
Intellectual disability, autosomal dominant 29
SETBP1-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003127394RCV003223444RCV004538897RCV004794624
NM_015559.3(SETBP1):c.3397A>T (p.Asn1133Tyr) SNV
Germline		 Chr18:44952737 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV003129316
NM_015559.3(SETBP1):c.3909T>A (p.Tyr1303Ter) SNV
Germline		 Chr18:44953249 Likely pathogenic Intellectual disability, autosomal dominant 29 No Assertion Criteria Provided

1 SubmittersRCV003148584
NM_015559.3(SETBP1):c.2564C>T (p.Pro855Leu) SNV
Germline		 Chr18:44951904 Likely pathogenic Intellectual disability, autosomal dominant 29 No Assertion Criteria Provided

1 SubmittersRCV003326667
NM_015559.3(SETBP1):c.3725G>A (p.Trp1242Ter) SNV
Unknown		 Chr18:44953065 Likely pathogenic Intellectual disability, autosomal dominant 29 Criteria Provided
Single Submitter

1 SubmittersRCV003224983
NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg) SNV
Germline		 Chr18:44951947 Pathogenic/Likely pathogenic Schinzel-Giedion syndrome
SETBP1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003315119RCV004701034
NM_015559.3(SETBP1):c.3802G>T (p.Gly1268Trp) SNV
Germline		 Chr18:44953142 Likely pathogenic Intellectual disability, autosomal dominant 29 Criteria Provided
Single Submitter

1 SubmittersRCV003335795
NM_015559.3(SETBP1):c.2606G>A (p.Ser869Asn) SNV
Germline		 Chr18:44951946 Pathogenic SETBP1-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV004531627
NM_015559.3(SETBP1):c.4328C>G (p.Ser1443Ter) SNV
Germline		 Chr18:45063235 Likely pathogenic Intellectual disability, autosomal dominant 29 No Assertion Criteria Provided

1 SubmittersRCV003444527
NM_015559.3(SETBP1):c.3056G>A (p.Arg1019His) SNV
Germline		 Chr18:44952396 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV003480277
NM_015559.3(SETBP1):c.617T>A (p.Leu206Ter) SNV
Germline		 Chr18:44949957 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV003544503
NM_015559.3(SETBP1):c.240G>A (p.Trp80Ter) SNV
Germline		 Chr18:44701586 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV003709073
NM_015559.3(SETBP1):c.4769G>C (p.Ser1590Thr) SNV
Germline		 Chr18:45063676 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV003840210
NM_015559.3(SETBP1):c.4601C>T (p.Pro1534Leu) SNV
Germline		 Chr18:45063508 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004369562RCV003867149
NM_015559.3(SETBP1):c.4615C>T (p.Pro1539Ser) SNV
Germline		 Chr18:45063522 Likely pathogenic SETBP1-related disorder No Assertion Criteria Provided

1 SubmittersRCV004735333
NM_015559.3(SETBP1):c.239G>A (p.Trp80Ter) SNV
Germline		 Chr18:44701585 Likely pathogenic Intellectual disability, autosomal dominant 29 Criteria Provided
Single Submitter

1 SubmittersRCV004771608
NM_015559.3(SETBP1):c.3562G>T (p.Glu1188Ter) SNV
Germline		 Chr18:44952902 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004778186
NM_015559.3(SETBP1):c.2608G>T (p.Gly870Cys) SNV
Germline		 Chr18:44951948 Pathogenic Schinzel-Giedion syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004789870