A total 458 pathogenic variants reported in gene intraflagellar transport 140 (IFT140)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) SNV
Germline
Chr16:1564074 Pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA129885 rs_387907192

7 SubmittersRCV000024359RCV000515561RCV001781315RCV005016296

NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) SNV
Germline
Chr16:1587275 Pathogenic Saldino-Mainzer syndrome No Assertion Criteria Provided
CA129887 rs_387907193

1 SubmittersRCV000024361

NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) SNV
Germline
Chr16:1592176 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Condition: not provided
Jeune thoracic dystrophy
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Nephronophthisis
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Retinitis pigmentosa 80
Retinal disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA129889 rs_201188361

16 SubmittersRCV000024363RCV000255441RCV000515934RCV000626465RCV001328311RCV001249674RCV004752723RCV005259984RCV006454638

NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg) SNV
Germline
Chr16:1518320 Pathogenic Saldino-Mainzer syndrome No Assertion Criteria Provided
CA149746 rs_431905520

1 SubmittersRCV000083296

NM_014714.4(IFT140):c.874G>A (p.Val292Met) SNV
Germline
Chr16:1587961 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Jeune thoracic dystrophy
Retinitis pigmentosa
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa 40
Criteria Provided
Multiple Submitters
No Conflicts
CA149747 rs_431905521

9 SubmittersRCV000083297RCV000626469RCV000515922RCV004579537RCV004815018RCV005016363RCV006698046

NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) SNV
Germline
Chr16:1571494 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 80
IFT140-related disorder
Retinitis pigmentosa
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Cranioectodermal dysplasia 5
Criteria Provided
Conflicting Classifications
CA149748 rs_199826737

15 SubmittersRCV000626462RCV001075445RCV001268554RCV001542691RCV003398688RCV002509205RCV005016364RCV005259988

NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) SNV
Germline
Chr16:1520177 Pathogenic/Likely pathogenic Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA277670 rs_779007169

2 SubmittersRCV000201484RCV004816249

NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) SNV
Germline
Chr16:1584240 Conflicting classifications of pathogenicity not specified
Saldino-Mainzer syndrome
Condition: not provided
IFT140-related disorder
Ovarian serous cystadenocarcinoma
Cleft palate
Gastric cancer
Criteria Provided
Conflicting Classifications
CA200837 rs_139619013

10 SubmittersRCV000174127RCV000270811RCV001723747RCV003955022RCV005889732RCV005625365RCV005889731

NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) SNV
Germline
Chr16:1568260 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA240556 rs_373111085

5 SubmittersRCV000174924RCV001234939RCV002478565RCV004752773

NM_014714.4(IFT140):c.2551G>A (p.Val851Met) SNV
Germline
Chr16:1526645 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA241953 rs_754753583

4 SubmittersRCV000176094RCV001039003RCV002492757RCV003955044

NM_014714.4(IFT140):c.2829G>A (p.Pro943=) SNV
Germline
Chr16:1525266 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA242216 rs_141779807

3 SubmittersRCV000176316RCV001082254RCV003888628

NM_014714.4(IFT140):c.3210G>A (p.Ala1070=) SNV
Germline
Chr16:1523888 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA242559 rs_372233286

3 SubmittersRCV000176572RCV001088681RCV004752776

NM_014714.4(IFT140):c.3675G>T (p.Leu1225=) SNV
Germline
Chr16:1520329 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA242969 rs_759998867

2 SubmittersRCV000176882RCV002054082

NM_014714.4(IFT140):c.3991C>T (p.Gln1331Ter) SNV
Germline
Chr16:1519930 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA202182 rs_794727473

1 SubmittersRCV000176940

NM_014714.4(IFT140):c.1010-1G>A SNV
Germline
Chr16:1586276 Pathogenic/Likely pathogenic Condition: not provided
Jeune thoracic dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa
Inborn genetic diseases
Acute myeloid leukemia
Criteria Provided
Multiple Submitters
No Conflicts
CA7814454 rs_770185023

9 SubmittersRCV000326779RCV000516131RCV001055096RCV001376438RCV002503978RCV003155145RCV005348089RCV005895484

NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) SNV
Germline
Chr16:1589657 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
not specified
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814585 rs_141993139

7 SubmittersRCV000364470RCV000378415RCV001795480RCV003930070

NM_014714.4(IFT140):c.1272G>A (p.Pro424=) SNV
Germline
Chr16:1584304 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814380 rs_370562505

2 SubmittersRCV000360218RCV002059120

NM_014714.4(IFT140):c.2787G>A (p.Thr929=) SNV
Germline
Chr16:1525308 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813477 rs_374661866

5 SubmittersRCV000361380RCV001081071

NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) SNV
Germline
Chr16:1526654 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Microcephaly
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813593 rs_201384469

7 SubmittersRCV000349501RCV000389738RCV001252699RCV003888674

NM_014714.4(IFT140):c.1667A>G (p.His556Arg) SNV
Germline
Chr16:1568320 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814179 rs_137925718

3 SubmittersRCV000363728RCV001088869RCV003949907

NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) SNV
Germline
Chr16:1511067 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7812807 rs_149359139

3 SubmittersRCV000264273RCV003391149

NM_014714.4(IFT140):c.3525C>G (p.Thr1175=) SNV
Germline
Chr16:1520737 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7813127 rs_752664070

5 SubmittersRCV000263838RCV004629185RCV005425929RCV004752850

NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) SNV
Germline
Chr16:1523569 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813185 rs_761692949

2 SubmittersRCV000260171

NM_014714.4(IFT140):c.3390C>T (p.Ser1130=) SNV
Germline
Chr16:1523581 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813189 rs_765923171

2 SubmittersRCV000334106

NM_014714.4(IFT140):c.2817G>A (p.Ser939=) SNV
Germline
Chr16:1525278 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813468 rs_373651150

2 SubmittersRCV000395271

NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp) SNV
Germline
Chr16:1526005 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813543 rs_554196965

2 SubmittersRCV000322625

NM_014714.4(IFT140):c.2586C>T (p.Ala862=) SNV
Germline
Chr16:1526069 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7813560 rs_148557575

3 SubmittersRCV000378315RCV001171689

NM_014714.4(IFT140):c.1872G>A (p.Thr624=) SNV
Germline
Chr16:1566190 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7814110 rs_775156902

2 SubmittersRCV000285495

NM_014714.4(IFT140):c.1788T>C (p.Asp596=) SNV
Germline
Chr16:1566274 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7814133 rs_148904634

4 SubmittersRCV000298053RCV001706504

NM_014714.4(IFT140):c.1230G>A (p.Ser410=) SNV
Germline
Chr16:1584346 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7814393 rs_199840711

4 SubmittersRCV000328247RCV003888743RCV006263869

NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) SNV
Germline
Chr16:1589643 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7814580 rs_141254616

4 SubmittersRCV000307488RCV002520986RCV003888745

NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) SNV
Germline
Chr16:1592548 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
not specified
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814709 rs_145718272

5 SubmittersRCV000291707RCV000983904RCV004689715RCV003391152

NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) SNV
Germline
Chr16:1607245 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814853 rs_145267929

4 SubmittersRCV000407664RCV001073365RCV002502238

NM_014714.4(IFT140):c.-4C>T SNV
Germline
Chr16:1607270 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7814858 rs_140403660

4 SubmittersRCV000312617RCV001820941RCV005865296

NM_014714.4(IFT140):c.3861C>T (p.Asp1287=) SNV
Germline
Chr16:1520143 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7813019 rs_143899594

3 SubmittersRCV000351286RCV004752849

NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) SNV
Germline
Chr16:1520225 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813040 rs_571556177

4 SubmittersRCV000278956RCV003165856RCV002487400

NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) SNV
Germline
Chr16:1520311 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7813059 rs_144028766

5 SubmittersRCV000301390RCV001699310RCV003391150

NM_014714.4(IFT140):c.3684C>T (p.Ser1228=) SNV
Germline
Chr16:1520320 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
IFT140-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7813061 rs_146464282

4 SubmittersRCV000339976RCV003950082RCV006731919

NM_014714.4(IFT140):c.2781G>A (p.Ser927=) SNV
Germline
Chr16:1525314 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813482 rs_773225207

2 SubmittersRCV000311841

NM_014714.4(IFT140):c.2424G>A (p.Ala808=) SNV
Germline
Chr16:1526772 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813631 rs_375979698

2 SubmittersRCV000350098

NM_014714.4(IFT140):c.1155+15G>A SNV
Germline
Chr16:1586115 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7814420 rs_764275810

2 SubmittersRCV000283384

NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) SNV
Germline
Chr16:1589637 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814576 rs_369671309

4 SubmittersRCV000405837RCV003243074RCV002494998

NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) SNV
Germline
Chr16:1589730 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814606 rs_555382397

4 SubmittersRCV000301773RCV002494999RCV002522825

NM_014714.4(IFT140):c.4278G>T (p.Gly1426=) SNV
Germline
Chr16:1511055 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7812800 rs_200161877

2 SubmittersRCV000299617

NM_014714.4(IFT140):c.3660+13C>T SNV
Germline
Chr16:1520589 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813087 rs_767836990

2 SubmittersRCV000307469

NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) SNV
Germline
Chr16:1520682 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813109 rs_555330165

3 SubmittersRCV000390334RCV005010280

NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys) SNV
Germline
Chr16:1524846 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
IFT140-related disorder
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813415 rs_146277966

5 SubmittersRCV000395263RCV003888741RCV004752851RCV005016697

NM_014714.4(IFT140):c.2561C>T (p.Thr854Met) SNV
Germline
Chr16:1526635 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7813585 rs_202189990

3 SubmittersRCV000280106RCV003969894

NM_014714.4(IFT140):c.1360-14G>A SNV
Germline
Chr16:1583400 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7814331 rs_369246649

2 SubmittersRCV000334018

NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) SNV
Germline
Chr16:1587282 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814489 rs_141993646

6 SubmittersRCV000335405RCV001073363RCV005243195RCV002522824

NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) SNV
Germline
Chr16:1587968 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
IFT140-related disorder
Retinitis pigmentosa
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814525 rs_145858131

6 SubmittersRCV000281495RCV002487403RCV003165857RCV004752852RCV005863098

NM_014714.4(IFT140):c.546C>T (p.Asp182=) SNV
Germline
Chr16:1592264 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814662 rs_150014480

4 SubmittersRCV000324026RCV001171690RCV003957643

NM_014714.4(IFT140):c.298C>G (p.Leu100Val) SNV
Germline
Chr16:1602441 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814755 rs_546498421

3 SubmittersRCV000346557RCV002495000

NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) SNV
Germline
Chr16:1510952 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Cleft palate
Criteria Provided
Conflicting Classifications
CA7812764 rs_201065562

5 SubmittersRCV000334851RCV002494994RCV002520984RCV005625546

NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) SNV
Germline
Chr16:1519928 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
not specified
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7812958 rs_35823417

9 SubmittersRCV000382606RCV000413085RCV000767021RCV003910205

NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) SNV
Germline
Chr16:1520216 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7813038 rs_775044452

3 SubmittersRCV000389559RCV003335305

NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) SNV
Germline
Chr16:1520660 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Microcephaly
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813098 rs_147292597

5 SubmittersRCV000362113RCV001252753RCV002494995RCV003888738

NM_014714.4(IFT140):c.3558G>A (p.Glu1186=) SNV
Germline
Chr16:1520704 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813119 rs_368713443

2 SubmittersRCV000358561

NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) SNV
Germline
Chr16:1520761 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813134 rs_377319314

2 SubmittersRCV000318841

NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) SNV
Germline
Chr16:1520772 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Thyroid cancer, nonmedullary, 1
Criteria Provided
Conflicting Classifications
CA7813136 rs_369425839

3 SubmittersRCV000354944RCV005893427

NM_014714.4(IFT140):c.3271-4G>A SNV
Germline
Chr16:1523704 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7813207 rs_200815296

3 SubmittersRCV000293965RCV003969893

NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) SNV
Germline
Chr16:1523951 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
IFT140-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7813274 rs_150129370

5 SubmittersRCV000325280RCV003888739RCV003910206RCV006263868

NM_014714.4(IFT140):c.867C>T (p.Ser289=) SNV
Germline
Chr16:1587968 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7814526 rs_145858131

2 SubmittersRCV000373603

NM_014714.4(IFT140):c.657G>A (p.Glu219=) SNV
Germline
Chr16:1589758 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7814612 rs_757028149

2 SubmittersRCV000358955

NM_014714.4(IFT140):c.36G>A (p.Pro12=) SNV
Germline
Chr16:1607231 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7814850 rs_574028286

2 SubmittersRCV000352234

NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) SNV
Germline
Chr16:1562008 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
not specified
Nephronophthisis
Criteria Provided
Conflicting Classifications
CA16042927 rs_1057518064

4 SubmittersRCV000413732RCV001042480RCV002298581RCV001328310

NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) SNV
Germline
Chr16:1592572 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
not specified
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814712 rs_773768491

5 SubmittersRCV000421972RCV001861628RCV002506076RCV003155180RCV003902618

NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr) SNV
Germline
Chr16:1511069 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
IFT140-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7812808 rs_144726977

4 SubmittersRCV000430051RCV001088694RCV003922806RCV004022422

NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) SNV
Germline
Chr16:1592486 Conflicting classifications of pathogenicity Condition: not provided
not specified
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814699 rs_755315693

4 SubmittersRCV000487511RCV001584198RCV001856885RCV005018818

NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) SNV
Germline
Chr16:1587209 Pathogenic Retinitis pigmentosa
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA7814480 rs_773372123

4 SubmittersRCV000504730RCV001002703

NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro) SNV
Germline
Chr16:1511137 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa 80
Criteria Provided
Single Submitter
CA7812832 rs_559371453

2 SubmittersRCV005010467RCV000515594

NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) SNV
Germline
Chr16:1580832 Pathogenic/Likely pathogenic Retinitis pigmentosa 80
Retinal dystrophy
Retinitis pigmentosa
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7814278 rs_758052634

6 SubmittersRCV000515606RCV001073305RCV002282196RCV001857877RCV002490876RCV003326447

NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro) SNV
Germline
Chr16:1525280 Likely pathogenic Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Single Submitter
CA276680253 rs_145549969

2 SubmittersRCV000515565RCV003530064

NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) SNV
Germline
Chr16:1558056 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Polycystic kidney disease 9, susceptibility to
Cystic renal disease
Criteria Provided
Multiple Submitters
No Conflicts
CA394200793 rs_1555486629

5 SubmittersRCV000515580RCV005010468RCV006704740RCV006683990

NM_014714.4(IFT140):c.70C>T (p.His24Tyr) SNV
Germline
Chr16:1607197 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Saldino-Mainzer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA276686056 rs_939722027

5 SubmittersRCV000516117RCV001035060RCV005625654

NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu) SNV
Germline
Chr16:1520730 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813125 rs_538114464

3 SubmittersRCV000518976RCV001853682RCV005851559

NM_014714.4(IFT140):c.903-5T>G SNV
Germline
Chr16:1587309 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA276682129 rs_900599017

6 SubmittersRCV000520573RCV001376491RCV001121926RCV002476059RCV006704755

NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) SNV
Germline
Chr16:1519982 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA276675316 rs_1002670900

4 SubmittersRCV000578612RCV001075043RCV001230423RCV002506390

NM_014714.4(IFT140):c.2400-2A>G SNV
Germline
Chr16:1526798 Pathogenic/Likely pathogenic Condition: not provided
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394228609 rs_1555478654

2 SubmittersRCV000579301RCV001860011

NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) SNV
Germline
Chr16:1511125 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7812829 rs_113216558

5 SubmittersRCV000591433RCV001224336RCV002497267

NM_014714.4(IFT140):c.2756G>A (p.Arg919Gln) SNV
Germline
Chr16:1525899 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813506 rs_201851204

4 SubmittersRCV000598098RCV001057759

NM_014714.4(IFT140):c.3141+1G>T SNV
Germline
Chr16:1524551 Pathogenic Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Saldino-Mainzer syndrome
Condition: not provided
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA7813303 rs_764770536

3 SubmittersRCV000626463RCV001091435RCV002529791

NM_014714.4(IFT140):c.2577+25G>A SNV
Germline
Chr16:1526594 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA658798460 rs_1423102192

5 SubmittersRCV000626460RCV001779029RCV005019038

NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) SNV
Germline
Chr16:1562007 Pathogenic Cranioectodermal dysplasia
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Criteria Provided
Single Submitter
CA394203209 rs_1417500285

2 SubmittersRCV000626464RCV005260252

NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) SNV
Germline
Chr16:1584257 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394214506 rs_1555491448

1 SubmittersRCV000626468

NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) SNV
Germline
Chr16:1592504 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA394220715 rs_1403669200

2 SubmittersRCV000626461

NM_014714.4(IFT140):c.128T>C (p.Val43Ala) SNV
Germline
Chr16:1607139 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814826 rs_372148301

3 SubmittersRCV000641163RCV004692004RCV005019066

NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) SNV
Germline
Chr16:1583369 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Renal cyst
Polycystic kidney disease 9, susceptibility to
Cystic renal disease
IFT140-associated disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA7814321 rs_140039128

9 SubmittersRCV000704469RCV001724143RCV001535954RCV003411642RCV004788137RCV005260366RCV006440035RCV005622011

NM_014714.4(IFT140):c.1424G>A (p.Arg475Gln) SNV
Germline
Chr16:1583322 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814308 rs_776789813

2 SubmittersRCV000695393RCV002532296

NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) SNV
Germline
Chr16:1592477 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
IFT140-related disorder
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814693 rs_148462329

5 SubmittersRCV000697881RCV003953241RCV004817938RCV005021079

NM_014714.4(IFT140):c.903-1G>A SNV
Germline
Chr16:1587305 Likely pathogenic Condition: not provided
Saldino-Mainzer syndrome
Criteria Provided
Single Submitter
CA394217080 rs_1567407044

2 SubmittersRCV000722196RCV002535022

NM_014714.4(IFT140):c.557G>A (p.Trp186Ter) SNV
Germline
Chr16:1592253 Pathogenic Condition: not provided
Renal cyst
Criteria Provided
Single Submitter
CA394220315 rs_1567413573

2 SubmittersRCV000723159RCV004788149

NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) SNV
Germline
Chr16:1557974 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
IFT140-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813929 rs_144938800

5 SubmittersRCV000728408RCV000813538RCV002477684RCV004753015RCV004817955

NM_014714.4(IFT140):c.3874-10A>C SNV
Germline
Chr16:1520057 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
not specified
Criteria Provided
Conflicting Classifications
CA7812993 rs_761503137

5 SubmittersRCV000731105RCV001115615RCV001701437

NM_014714.4(IFT140):c.2504C>T (p.Ala835Val) SNV
Germline
Chr16:1526692 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7813605 rs_368232950

3 SubmittersRCV000733932RCV001207788RCV003392573

NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) SNV
Germline
Chr16:1525999 Pathogenic Condition: not provided
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA394227503 rs_1567330535

3 SubmittersRCV000760720RCV001281143RCV003411699

NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) SNV
Germline
Chr16:1526057 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Autosomal dominant polycystic kidney disease
Renal cyst
Criteria Provided
Multiple Submitters
No Conflicts
CA7813557 rs_144513458

5 SubmittersRCV000760741RCV002500984RCV004753029RCV005250107RCV006249678

NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) SNV
Germline
Chr16:1564105 Pathogenic Saldino-Mainzer syndrome
IFT140-related disorder
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinal disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA7814069 rs_770731272

4 SubmittersRCV000779179RCV003892700RCV005021163RCV006261751

NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter) SNV
Germline
Chr16:1524623 Pathogenic Retinitis pigmentosa 80 No Assertion Criteria Provided
CA394225968 rs_777889289

1 SubmittersRCV000786892

NM_014714.4(IFT140):c.2446C>T (p.Arg816Trp) SNV
Germline
Chr16:1526750 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813623 rs_549813139

3 SubmittersRCV000878110RCV001766787RCV003890003

NM_014714.4(IFT140):c.2057C>G (p.Ala686Gly) SNV
Germline
Chr16:1564007 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814033 rs_140941344

3 SubmittersRCV000878366RCV002290488RCV003930463

NM_014714.4(IFT140):c.1824A>G (p.Thr608=) SNV
Germline
Chr16:1566238 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Sarcoma
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA7814125 rs_35433680

4 SubmittersRCV000877875RCV003456452RCV005907202RCV005907201

NM_014714.4(IFT140):c.1944C>T (p.Pro648=) SNV
Germline
Chr16:1564120 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7814071 rs_763449097

2 SubmittersRCV001119837

NM_014714.4(IFT140):c.1593G>T (p.Gly531=) SNV
Germline
Chr16:1571466 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7814216 rs_143491016

4 SubmittersRCV000945498RCV003235437RCV005903227

NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser) SNV
Germline
Chr16:1571485 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814219 rs_112545558

4 SubmittersRCV000945491RCV001074634RCV001772171RCV003913196

NM_014714.4(IFT140):c.2724C>T (p.Ala908=) SNV
Germline
Chr16:1525931 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7813518 rs_138166567

3 SubmittersRCV000972873RCV004753148

NM_014714.4(IFT140):c.3252G>A (p.Ala1084=) SNV
Germline
Chr16:1523846 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813241 rs_375975334

2 SubmittersRCV001118772

NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys) SNV
Germline
Chr16:1511024 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7812788 rs_201642067

4 SubmittersRCV001061980RCV003283944RCV003890211RCV005021403

NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) SNV
Germline
Chr16:1511030 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7812791 rs_145746065

4 SubmittersRCV001060475RCV002489663RCV003160485RCV004813662

NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) SNV
Germline
Chr16:1511036 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7812795 rs_141392067

5 SubmittersRCV001064962RCV003393834RCV004813684RCV005394711

NM_014714.4(IFT140):c.4250C>T (p.Pro1417Leu) SNV
Germline
Chr16:1511083 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7812814 rs_555799779

3 SubmittersRCV001062152RCV002553918RCV004753194

NM_014714.4(IFT140):c.4214G>A (p.Arg1405Gln) SNV
Germline
Chr16:1511119 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7812825 rs_558519810

3 SubmittersRCV001065297RCV003259077RCV004753200

NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) SNV
Germline
Chr16:1511128 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7812831 rs_202129528

4 SubmittersRCV001036582RCV002552463RCV002489544RCV003883532

NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu) SNV
Germline
Chr16:1518239 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
IFT140-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7812888 rs_142668269

5 SubmittersRCV001064370RCV002489684RCV003243459RCV004753196RCV005411656

NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp) SNV
Germline
Chr16:1520700 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7813116 rs_575196272

2 SubmittersRCV001046762RCV002479288

NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser) SNV
Germline
Chr16:1523925 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813265 rs_141471091

3 SubmittersRCV001053133RCV002481974RCV002553308

NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn) SNV
Germline
Chr16:1525909 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813509 rs_568921640

3 SubmittersRCV001064320RCV002489683RCV002553955

NM_014714.4(IFT140):c.2741G>A (p.Ser914Asn) SNV
Germline
Chr16:1525914 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813514 rs_369848545

2 SubmittersRCV001050987RCV004629425

NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys) SNV
Germline
Chr16:1525939 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813521 rs_755504361

2 SubmittersRCV001071711RCV005021428

NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln) SNV
Germline
Chr16:1526004 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813542 rs_150498538

3 SubmittersRCV001053823RCV002481981RCV002553329

NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp) SNV
Germline
Chr16:1566201 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7814115 rs_146480546

4 SubmittersRCV001057154RCV002489647RCV002553366RCV005093345

NM_014714.4(IFT140):c.1520G>T (p.Trp507Leu) SNV
Germline
Chr16:1580763 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814255 rs_755959856

2 SubmittersRCV001036895RCV005851670

NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) SNV
Germline
Chr16:1583329 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814311 rs_149642543

6 SubmittersRCV001049333RCV002479303RCV002553199RCV004693513RCV004753179

NM_014714.4(IFT140):c.1220G>A (p.Arg407Gln) SNV
Germline
Chr16:1584356 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7814398 rs_151198844

4 SubmittersRCV001049823RCV004031551RCV004726833

NM_014714.4(IFT140):c.836G>A (p.Arg279His) SNV
Germline
Chr16:1587999 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7814539 rs_4786350

2 SubmittersRCV001066839RCV003890219

NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) SNV
Germline
Chr16:1524864 Conflicting classifications of pathogenicity Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813423 rs_369493147

4 SubmittersRCV001075464RCV001371865RCV002505666RCV005851709

NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys) SNV
Germline
Chr16:1524885 Conflicting classifications of pathogenicity Retinal dystrophy
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813428 rs_759898401

3 SubmittersRCV001075641RCV003645885RCV006666753

NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) SNV
Germline
Chr16:1564080 Conflicting classifications of pathogenicity Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814059 rs_199758112

3 SubmittersRCV001074636RCV001862835RCV002480450

NM_014714.4(IFT140):c.1390G>T (p.Val464Leu) SNV
Germline
Chr16:1583356 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA394214120 rs_2034681207

1 SubmittersRCV001075334

NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) SNV
Germline
Chr16:1584324 Conflicting classifications of pathogenicity Retinal dystrophy
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7814389 rs_770890983

4 SubmittersRCV001074233RCV001366836RCV005021429RCV004720064

NM_014714.4(IFT140):c.920G>A (p.Arg307Gln) SNV
Germline
Chr16:1587287 Conflicting classifications of pathogenicity Retinal dystrophy
Saldino-Mainzer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7814491 rs_780666037

3 SubmittersRCV001073481RCV003645882RCV004768856

NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) SNV
Germline
Chr16:1592549 Pathogenic/Likely pathogenic Retinal dystrophy
Saldino-Mainzer syndrome
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Renal cyst
Criteria Provided
Multiple Submitters
No Conflicts
CA7814710 rs_762817061

5 SubmittersRCV001075497RCV003645884RCV003883548RCV005021433RCV005417387

NM_014714.4(IFT140):c.56C>T (p.Ser19Leu) SNV
Germline
Chr16:1607211 Conflicting classifications of pathogenicity Retinal dystrophy
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814845 rs_766380874

3 SubmittersRCV001075808RCV001301368RCV005348311

NM_014714.4(IFT140):c.4040+1G>A SNV
Germline
Chr16:1519880 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA7812946 rs_748523056

1 SubmittersRCV001074232

NM_014714.4(IFT140):c.1359+1G>A SNV
Germline
Chr16:1584216 Likely pathogenic Retinal dystrophy
Saldino-Mainzer syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394214334 rs_2034739931

3 SubmittersRCV001073817RCV003645883RCV005639260

NM_014714.4(IFT140):c.634+5G>A SNV
Germline
Chr16:1592171 Conflicting classifications of pathogenicity Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA620701266 rs_1323647622

5 SubmittersRCV001073818RCV001237370RCV001376446

NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) SNV
Germline
Chr16:1510979 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7812775 rs_142106374

4 SubmittersRCV001120218RCV001784659RCV002505695

NM_014714.4(IFT140):c.4350G>A (p.Leu1450=) SNV
Germline
Chr16:1510983 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7812778 rs_750381445

2 SubmittersRCV001120219

NM_014714.4(IFT140):c.4251G>A (p.Pro1417=) SNV
Germline
Chr16:1511082 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7812813 rs_773095902

2 SubmittersRCV001120520

NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu) SNV
Germline
Chr16:1520720 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813123 rs_145814071

7 SubmittersRCV001118676RCV001729799RCV002556529RCV004813783

NM_014714.4(IFT140):c.3513G>A (p.Ala1171=) SNV
Germline
Chr16:1520749 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7813129 rs_763709094

4 SubmittersRCV001120616RCV003883556RCV004753213

NM_014714.4(IFT140):c.3403G>A (p.Glu1135Lys) SNV
Germline
Chr16:1523568 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813184 rs_774170824

3 SubmittersRCV001120617RCV003890270

NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) SNV
Germline
Chr16:1523883 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813255 rs_201884886

5 SubmittersRCV001118773RCV002482220RCV003246700RCV003890263

NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly) SNV
Germline
Chr16:1525900 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
IFT140-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813507 rs_548992623

4 SubmittersRCV001117222RCV003963061RCV003890260

NM_014714.4(IFT140):c.2692G>A (p.Val898Met) SNV
Germline
Chr16:1525963 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7813527 rs_369457143

3 SubmittersRCV001117224RCV005021450

NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) SNV
Germline
Chr16:1526010 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813547 rs_200394007

4 SubmittersRCV001118859RCV002480491RCV003890264

NM_014714.4(IFT140):c.2224G>A (p.Glu742Lys) SNV
Germline
Chr16:1558110 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA394201264 rs_1420709766

2 SubmittersRCV001118308RCV005851717

NM_014714.4(IFT140):c.1452G>A (p.Thr484=) SNV
Germline
Chr16:1580831 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA276677916 rs_914258252

2 SubmittersRCV001118407

NM_014714.4(IFT140):c.1380C>T (p.Asn460=) SNV
Germline
Chr16:1583366 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA492927552 rs_1339640657

2 SubmittersRCV001118409

NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) SNV
Germline
Chr16:1584267 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814373 rs_373106880

5 SubmittersRCV001118410RCV002497529RCV003890262RCV004629457

NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) SNV
Germline
Chr16:1584270 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814375 rs_764912104

3 SubmittersRCV001118411RCV002491368

NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) SNV
Germline
Chr16:1587985 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814531 rs_778404277

3 SubmittersRCV001121927RCV002497531

NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) SNV
Germline
Chr16:1589687 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814593 rs_539181813

3 SubmittersRCV001115344RCV002482213

NM_014714.4(IFT140):c.4182+15C>T SNV
Germline
Chr16:1518201 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7812882 rs_374874160

2 SubmittersRCV001120521

NM_014714.4(IFT140):c.2997+8C>G SNV
Germline
Chr16:1524776 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
IFT140-related disorder
Thymoma
Criteria Provided
Conflicting Classifications
CA7813394 rs_372183503

4 SubmittersRCV001120718RCV003906228RCV005913773

NM_014714.4(IFT140):c.2768+12C>T SNV
Germline
Chr16:1525875 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7813500 rs_756491638

2 SubmittersRCV001117221

NM_014714.4(IFT140):c.1653-14C>T SNV
Germline
Chr16:1568348 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7814186 rs_148433720

2 SubmittersRCV001121820

NM_014714.4(IFT140):c.1010-10C>T SNV
Germline
Chr16:1586285 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814455 rs_376722338

3 SubmittersRCV001119942RCV003906224

NM_014714.4(IFT140):c.369+12C>T SNV
Germline
Chr16:1602358 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications
CA7814738 rs_192986766

2 SubmittersRCV001118497

NM_014714.4(IFT140):c.558G>A (p.Trp186Ter) SNV
Unknown
Chr16:1592252 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394220314 rs_2035218747

1 SubmittersRCV001197586

NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) SNV
Germline
Chr16:1602499 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA394223201 rs_1471379682

3 SubmittersRCV001221113RCV002497752RCV004753238

NM_014714.4(IFT140):c.4163G>A (p.Arg1388Gln) SNV
Germline
Chr16:1518235 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7812886 rs_369058620

2 SubmittersRCV001207767RCV004033708

NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) SNV
Germline
Chr16:1525267 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813466 rs_200561100

3 SubmittersRCV001208700RCV002504245RCV004033739

NM_014714.4(IFT140):c.1739G>A (p.Ser580Asn) SNV
Germline
Chr16:1568248 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA276662710 rs_1019259823

2 SubmittersRCV001213190RCV002561805

NM_014714.4(IFT140):c.1126G>A (p.Glu376Lys) SNV
Germline
Chr16:1586159 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814430 rs_200349591

2 SubmittersRCV001208942RCV002561700

NM_014714.4(IFT140):c.329G>A (p.Arg110His) SNV
Germline
Chr16:1602410 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814746 rs_371077545

2 SubmittersRCV001210181RCV002480693

NM_014714.4(IFT140):c.1901+1G>T SNV
Germline
Chr16:1566160 Likely pathogenic Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA7814102 rs_375910993

2 SubmittersRCV001208661RCV002480683

NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln) SNV
Germline
Chr16:1511059 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7812801 rs_150276786

2 SubmittersRCV001230459RCV002491739

NM_014714.4(IFT140):c.4159G>A (p.Val1387Met) SNV
Germline
Chr16:1518239 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7812889 rs_142668269

3 SubmittersRCV001237799RCV001773540RCV002491769

NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) SNV
Germline
Chr16:1519932 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7812960 rs_376151586

4 SubmittersRCV001238483RCV002480779RCV003263877RCV003456484

NM_014714.4(IFT140):c.2920G>A (p.Ala974Thr) SNV
Germline
Chr16:1524861 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813421 rs_769420945

3 SubmittersRCV001236610RCV001773536RCV004813957

NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) SNV
Germline
Chr16:1525897 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813505 rs_566450108

2 SubmittersRCV001231897RCV002491744

NM_014714.4(IFT140):c.1322G>A (p.Arg441His) SNV
Germline
Chr16:1584254 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814369 rs_776567773

2 SubmittersRCV001228961RCV002504304

NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) SNV
Germline
Chr16:1589732 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814608 rs_752659125

3 SubmittersRCV001237193RCV002484297RCV006372332

NM_014714.4(IFT140):c.3526G>A (p.Val1176Met) SNV
Germline
Chr16:1520736 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813126 rs_764946729

3 SubmittersRCV001240773RCV002491798RCV006372352

NM_014714.4(IFT140):c.2009C>T (p.Pro670Leu) SNV
Germline
Chr16:1564055 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814049 rs_149845330

2 SubmittersRCV001243132RCV005582636

NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg) SNV
Germline
Chr16:1583318 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814307 rs_771030841

3 SubmittersRCV001242792RCV001751483RCV003346408

NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) SNV
Germline
Chr16:1584357 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814399 rs_754373519

2 SubmittersRCV001243980RCV002504351

NM_014714.4(IFT140):c.883G>A (p.Val295Ile) SNV
Germline
Chr16:1587952 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814521 rs_762792738

4 SubmittersRCV001243338RCV001773548RCV003887959RCV005012675

NM_014714.4(IFT140):c.3874-1G>A SNV
Germline
Chr16:1520048 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA7812990 rs_749563050

2 SubmittersRCV001234793RCV002497804

NM_014714.4(IFT140):c.148-2A>G SNV
Germline
Chr16:1602593 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA7814802 rs_775682083

1 SubmittersRCV001237006

NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) SNV
Germline
Chr16:1587232 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA394216771 rs_1330112951

4 SubmittersRCV001281144RCV001751516RCV005236734

NM_014714.4(IFT140):c.1525-1G>A SNV
Germline
Chr16:1571535 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA394209561 rs_2034013225

2 SubmittersRCV001251125

NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) SNV
Germline
Chr16:1526044 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa
Retinitis pigmentosa 80
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813555 rs_767213195

7 SubmittersRCV001268630RCV001380589RCV001724283RCV002290678RCV005012704

NM_014714.4(IFT140):c.2068-2A>G SNV
Germline
Chr16:1562118 Likely pathogenic Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA394203967 rs_1489989834

2 SubmittersRCV001267908RCV002499458

NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) SNV
Germline
Chr16:1602527 Pathogenic/Likely pathogenic Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA7814778 rs_772757427

5 SubmittersRCV001268555RCV001379861RCV002250740RCV005432644

NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln) SNV
Germline
Chr16:1524905 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813433 rs_148240226

4 SubmittersRCV001301469RCV003346440RCV003888001RCV005014366

NM_014714.4(IFT140):c.2054G>A (p.Arg685His) SNV
Germline
Chr16:1564010 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814037 rs_370263158

3 SubmittersRCV001296505RCV002493558

NM_014714.4(IFT140):c.1945G>A (p.Val649Met) SNV
Germline
Chr16:1564119 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814070 rs_534052238

2 SubmittersRCV001298461RCV002476385

NM_014714.4(IFT140):c.215C>T (p.Thr72Met) SNV
Germline
Chr16:1602524 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814775 rs_774892063

3 SubmittersRCV001303056RCV003888004RCV005014372

NM_014714.4(IFT140):c.3271-5C>T SNV
Germline
Chr16:1523705 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813208 rs_368227090

2 SubmittersRCV001317088RCV002499615

NM_014714.4(IFT140):c.3235G>A (p.Val1079Met) SNV
Germline
Chr16:1523863 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813248 rs_146537096

2 SubmittersRCV001312273RCV002504475

NM_014714.4(IFT140):c.2718C>G (p.Arg906=) SNV
Germline
Chr16:1525937 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813519 rs_780540683

2 SubmittersRCV001322378RCV002493686

NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) SNV
Germline
Chr16:1526789 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7813635 rs_538791217

5 SubmittersRCV001327727RCV002486323RCV003405554RCV003169540RCV004692517

NM_014714.4(IFT140):c.1837G>A (p.Asp613Asn) SNV
Germline
Chr16:1566225 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
not specified
Criteria Provided
Conflicting Classifications
CA7814121 rs_200208525

2 SubmittersRCV001316768RCV005408825

NM_014714.4(IFT140):c.1432+18G>A SNV
Germline
Chr16:1583296 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814304 rs_374262499

2 SubmittersRCV001320833RCV005014409

NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg) SNV
Germline
Chr16:1584407 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814405 rs_369998823

2 SubmittersRCV001314926RCV005012760

NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln) SNV
Germline
Chr16:1586245 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814447 rs_147556035

4 SubmittersRCV001315861RCV001773631RCV002486238RCV005851810

NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) SNV
Germline
Chr16:1524836 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7813411 rs_766316995

5 SubmittersRCV001333079RCV002486331RCV004987085RCV003888030

NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) SNV
Germline
Chr16:1586246 Pathogenic Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Renal cyst
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA394216213 rs_1166261279

6 SubmittersRCV001785239RCV002503275RCV004785311RCV004815633

NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser) SNV
Germline
Chr16:1564092 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814063 rs_778960409

3 SubmittersRCV001339303RCV002493742RCV006377045

NM_014714.4(IFT140):c.1876T>C (p.Ser626Pro) SNV
Germline
Chr16:1566186 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814109 rs_200765913

3 SubmittersRCV001340597RCV004035945RCV005014453

NM_014714.4(IFT140):c.1304G>A (p.Gly435Glu) SNV
Germline
Chr16:1584272 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814376 rs_201033016

2 SubmittersRCV001345595RCV005851846

NM_014714.4(IFT140):c.832G>A (p.Gly278Ser) SNV
Germline
Chr16:1588003 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814541 rs_141986611

3 SubmittersRCV001351465RCV005005865RCV005340828

NM_014714.4(IFT140):c.561G>T (p.Lys187Asn) SNV
Germline
Chr16:1592249 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814658 rs_139286030

4 SubmittersRCV001344891RCV002486401RCV004753291RCV005340821

NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) SNV
Germline
Chr16:1602560 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814790 rs_148093208

4 SubmittersRCV001340494RCV001773680RCV002504533RCV004035941

NM_014714.4(IFT140):c.886G>T (p.Gly296Trp) SNV
Germline
Chr16:1587949 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394217480 rs_574450870

1 SubmittersRCV001353344

NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) SNV
Germline
Chr16:1510955 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7812767 rs_777181948

3 SubmittersRCV001369014RCV002504612RCV004037069

NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) SNV
Germline
Chr16:1586255 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814448 rs_201871050

3 SubmittersRCV001367739RCV002488140RCV006377171

NM_014714.4(IFT140):c.2677G>T (p.Glu893Ter) SNV
Germline
Chr16:1525978 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394227424 rs_372746686

1 SubmittersRCV001381146

NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter) SNV
Germline
Chr16:1526696 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
IFT140-related disorder
Renal cyst
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394228230 rs_777399400

5 SubmittersRCV001381246RCV003416302RCV004789564RCV005005913RCV006266736

NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter) SNV
Germline
Chr16:1580782 Pathogenic Saldino-Mainzer syndrome
IFT140-related disorder
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA394211870 rs_1424099914

3 SubmittersRCV001383877RCV003405632RCV006685424

NM_014714.4(IFT140):c.3876G>A (p.Val1292=) SNV
Germline
Chr16:1520045 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA276675401 rs_986239975

2 SubmittersRCV001444997RCV005014564

NM_014714.4(IFT140):c.3596G>A (p.Cys1199Tyr) SNV
Germline
Chr16:1520666 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7813103 rs_535064774

3 SubmittersRCV001450720RCV005014570RCV004753329

NM_014714.4(IFT140):c.2628C>A (p.Asn876Lys) SNV
Germline
Chr16:1526027 Likely pathogenic Retinitis pigmentosa 80 No Assertion Criteria Provided
CA394227746 rs_2040683256

1 SubmittersRCV001542690

NM_014714.4(IFT140):c.635-1G>C SNV
Germline
Chr16:1589781 Pathogenic Retinitis pigmentosa 80 Criteria Provided
Single Submitter
CA394219037 rs_2141882563

1 SubmittersRCV001591792

NM_014714.4(IFT140):c.283C>T (p.Gln95Ter) SNV
Germline
Chr16:1602456 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA394223100 rs_2142041186

1 SubmittersRCV001782291

NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter) SNV
Germline
Chr16:1524584 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394225889 rs_774547622

2 SubmittersRCV001795667

NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) SNV
Germline
Chr16:1523884 Pathogenic/Likely pathogenic Condition: not provided
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
IFT140-related disorder
Renal cyst
Cystic renal disease
Criteria Provided
Multiple Submitters
No Conflicts
CA394225657 rs_1432688490

8 SubmittersRCV001795767RCV002541298RCV002503283RCV003888321RCV004753392RCV006249771RCV005922537

NM_014714.4(IFT140):c.1310C>T (p.Ala437Val) SNV
Germline
Chr16:1584266 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814372 rs_199881467

2 SubmittersRCV001930199RCV004040366

NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly) SNV
Germline
Chr16:1510954 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7812766 rs_771632573

2 SubmittersRCV001988762RCV002492277

NM_014714.4(IFT140):c.4181C>T (p.Thr1394Met) SNV
Germline
Chr16:1518217 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7812885 rs_771765849

2 SubmittersRCV002034017RCV004044752

NM_014714.4(IFT140):c.3704C>T (p.Thr1235Met) SNV
Germline
Chr16:1520300 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813057 rs_767997025

3 SubmittersRCV001919017RCV004616865RCV005006215

NM_014714.4(IFT140):c.1418C>T (p.Ala473Val) SNV
Germline
Chr16:1583328 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814310 rs_765322119

3 SubmittersRCV001923120RCV005016822RCV006663721

NM_014714.4(IFT140):c.2934C>A (p.Tyr978Ter) SNV
Germline
Chr16:1524847 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394226403 rs_777862012

1 SubmittersRCV001892734

NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu) SNV
Germline
Chr16:1520664 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7813101 rs_566568065

4 SubmittersRCV002036692RCV002486795RCV005585098RCV006458915

NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter) SNV
Germline
Chr16:1586138 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
IFT140-related disorder
Renal cyst
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Cystic renal disease
Criteria Provided
Multiple Submitters
No Conflicts
CA394215687 rs_1206753537

5 SubmittersRCV001907936RCV003416523RCV004785356RCV005014743RCV006684014

NM_014714.4(IFT140):c.2717G>A (p.Arg906His) SNV
Germline
Chr16:1525938 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813520 rs_754338217

3 SubmittersRCV001871301RCV002506957RCV003289173

NM_014714.4(IFT140):c.2578-2A>G SNV
Germline
Chr16:1526079 Likely pathogenic Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA394227921 rs_2040685752

2 SubmittersRCV001973205RCV002492177

NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) SNV
Germline
Chr16:1587288 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394216992 rs_1307461796

2 SubmittersRCV001951871RCV005016841

NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) SNV
Germline
Chr16:1564026 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA394204819 rs_2141540660

3 SubmittersRCV001964909RCV002250785RCV002252731

NM_014714.4(IFT140):c.2200-20A>G SNV
Germline
Chr16:1558154 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7813964 rs_760501465

2 SubmittersRCV002023188RCV002492367

NM_014714.4(IFT140):c.3727C>T (p.Gln1243Ter) SNV
Germline
Chr16:1520277 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394224541 rs_2141144931

1 SubmittersRCV001893287

NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) SNV
Germline
Chr16:1584245 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814364 rs_148663745

3 SubmittersRCV001964383RCV002484861RCV004631880

NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) SNV
Germline
Chr16:1602411 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814748 rs_140159548

3 SubmittersRCV001912199RCV002482609RCV003339787

NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) SNV
Germline
Chr16:1580770 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Condition: not provided
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA394211800 rs_1257804746

4 SubmittersRCV001975158RCV003312029RCV005008310RCV005253984

NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) SNV
Germline
Chr16:1583370 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814322 rs_778311141

2 SubmittersRCV002048657RCV002486725

NM_014714.4(IFT140):c.2816C>T (p.Ser939Leu) SNV
Germline
Chr16:1525279 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7813469 rs_575485883

2 SubmittersRCV001937467RCV004693821

NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter) SNV
Germline
Chr16:1526753 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA394228426 rs_2141185231

2 SubmittersRCV001922623RCV005016777

NM_014714.4(IFT140):c.490G>T (p.Glu164Ter) SNV
Germline
Chr16:1592468 Pathogenic Saldino-Mainzer syndrome
Asphyxiating thoracic dystrophy 1
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
IFT140-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA276686193 rs_559314300

4 SubmittersRCV002007187RCV004770312RCV005016933RCV003913466

NM_014714.4(IFT140):c.160C>T (p.Pro54Ser) SNV
Germline
Chr16:1602579 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814798 rs_771294438

3 SubmittersRCV001976858RCV003170334RCV005016999

NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser) SNV
Germline
Chr16:1523950 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813273 rs_763140298

3 SubmittersRCV002013907RCV002486672RCV004982846

NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg) SNV
Germline
Chr16:1525930 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7813517 rs_201100248

2 SubmittersRCV001965229RCV002484693

NM_014714.4(IFT140):c.3640C>T (p.Gln1214Ter) SNV
Germline
Chr16:1520622 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394224729 rs_2141147087

1 SubmittersRCV001942275

NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr) SNV
Germline
Chr16:1568270 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7814167 rs_528350505

2 SubmittersRCV001960245RCV002479538

NM_014714.4(IFT140):c.482C>A (p.Pro161His) SNV
Germline
Chr16:1592476 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814690 rs_191927317

2 SubmittersRCV001909274RCV002490239

NM_014714.4(IFT140):c.1525-2A>T SNV
Germline
Chr16:1571536 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394209563 rs_2141634877

1 SubmittersRCV001975244

NM_014714.4(IFT140):c.481C>A (p.Pro161Thr) SNV
Germline
Chr16:1592477 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
Condition: not provided
IFT140-related disorder
Criteria Provided
Conflicting Classifications
CA7814694 rs_148462329

5 SubmittersRCV002038579RCV002507824RCV004816938RCV004694153RCV004753478

NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) SNV
Germline
Chr16:1580779 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7814263 rs_183261797

3 SubmittersRCV001981015RCV002507764RCV005854172

NM_014714.4(IFT140):c.3234C>T (p.Gly1078=) SNV
Germline
Chr16:1523864 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7813249 rs_200748918

2 SubmittersRCV002024821RCV005017089

NM_014714.4(IFT140):c.1368C>T (p.Val456=) SNV
Germline
Chr16:1583378 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA276679848 rs_561657958

3 SubmittersRCV002162594RCV003889055RCV005008466

NM_014714.4(IFT140):c.4257C>T (p.Ala1419=) SNV
Germline
Chr16:1511076 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7812812 rs_535810761

2 SubmittersRCV002081323RCV003889036

NM_014714.4(IFT140):c.3660+12C>T SNV
Germline
Chr16:1520590 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7813088 rs_755939601

2 SubmittersRCV002108214RCV005017131

NM_014714.4(IFT140):c.1585A>G (p.Ile529Val) SNV
Germline
Chr16:1571474 Conflicting classifications of pathogenicity Condition: not provided
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814217 rs_145895414

2 SubmittersRCV002211326RCV003093842

NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr) SNV
Germline
Chr16:1607230 Conflicting classifications of pathogenicity not specified
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814849 rs_554065722

3 SubmittersRCV002266462RCV003096037RCV005017176

NM_014714.4(IFT140):c.1155+1G>A SNV
Germline
Chr16:1586129 Likely pathogenic Retinitis pigmentosa
Renal cyst
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA7814423 rs_780965515

3 SubmittersRCV002308671RCV004785570RCV005017202

NM_014714.4(IFT140):c.3891C>A (p.Tyr1297Ter) SNV
Germline
Chr16:1520030 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA7812985 rs_562033874

1 SubmittersRCV003085346

NM_014714.4(IFT140):c.1996G>A (p.Val666Met) SNV
Germline
Chr16:1564068 Conflicting classifications of pathogenicity Inborn genetic diseases
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814054 rs_763362512

2 SubmittersRCV003080228RCV003091905

NM_014714.4(IFT140):c.2221G>A (p.Asp741Asn) SNV
Germline
Chr16:1558113 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7813958 rs_762973022

2 SubmittersRCV002644328RCV003389918

NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe) SNV
Germline
Chr16:1607253 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA276686139 rs_1049601354

2 SubmittersRCV002659629RCV005854457

NM_014714.4(IFT140):c.482C>G (p.Pro161Arg) SNV
Germline
Chr16:1592476 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814692 rs_191927317

2 SubmittersRCV002589091RCV005019248

NM_014714.4(IFT140):c.1009+1G>T SNV
Germline
Chr16:1587197 Likely pathogenic Saldino-Mainzer syndrome
IFT140-related disorder
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA394216559 rs_1221367358

4 SubmittersRCV002695487RCV003409908RCV005008700RCV005406501

NM_014714.4(IFT140):c.4190G>A (p.Arg1397Lys) SNV
Germline
Chr16:1511143 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7812833 rs_770636131

2 SubmittersRCV002716498RCV004983100

NM_014714.4(IFT140):c.889G>T (p.Glu297Ter) SNV
Germline
Chr16:1587946 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394217469 rs_1263308663

1 SubmittersRCV002760937

NM_014714.4(IFT140):c.2411G>A (p.Trp804Ter) SNV
Germline
Chr16:1526785 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA7813634 rs_773614995

1 SubmittersRCV002786680

NM_014714.4(IFT140):c.4041-2A>G SNV
Germline
Chr16:1518359 Pathogenic/Likely pathogenic Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA394223851 rs_2040425342

2 SubmittersRCV002761577RCV005008737

NM_014714.4(IFT140):c.3313C>T (p.Gln1105Ter) SNV
Germline
Chr16:1523658 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394225434 rs_2506102659

1 SubmittersRCV002825211

NM_014714.4(IFT140):c.147+2T>G SNV
Germline
Chr16:1607118 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394194450 rs_2508713536

1 SubmittersRCV002847247

NM_014714.4(IFT140):c.2997+1G>C SNV
Germline
Chr16:1524783 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394226209 rs_2506115448

1 SubmittersRCV002866951

NM_014714.4(IFT140):c.2011C>T (p.Arg671Cys) SNV
Germline
Chr16:1564053 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7814047 rs_371561039

2 SubmittersRCV002900459RCV005019452

NM_014714.4(IFT140):c.2434G>A (p.Val812Met) SNV
Germline
Chr16:1526762 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7813626 rs_569828117

3 SubmittersRCV002903619RCV005010770RCV005585258

NM_014714.4(IFT140):c.1394C>T (p.Ala465Val) SNV
Germline
Chr16:1583352 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7814318 rs_755802373

3 SubmittersRCV002914107RCV002914108RCV005415648

NM_014714.4(IFT140):c.2203G>A (p.Glu735Lys) SNV
Germline
Chr16:1558131 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinal dystrophy
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications
CA7813960 rs_774482510

4 SubmittersRCV002949154RCV003889189RCV004068090RCV005019503

NM_014714.4(IFT140):c.2865-8G>T SNV
Germline
Chr16:1524924 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA276680117 rs_894474570

2 SubmittersRCV003005166RCV005010861

NM_014714.4(IFT140):c.3502G>T (p.Glu1168Ter) SNV
Germline
Chr16:1520760 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394225019 rs_780721001

1 SubmittersRCV003046017

NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter) SNV
Germline
Chr16:1584330 Pathogenic Retinitis pigmentosa 80
IFT140-related disorder
Renal cyst
Criteria Provided
Multiple Submitters
No Conflicts
CA7814391 rs_554927827

3 SubmittersRCV003152928RCV004731512RCV006249862

NM_014714.4(IFT140):c.1648C>T (p.Arg550Ter) SNV
Germline
Chr16:1571411 Pathogenic IFT140-related disorder
Condition: not provided
Retinitis pigmentosa
Renal cyst
Polycystic kidney disease 9, susceptibility to
Criteria Provided
Multiple Submitters
No Conflicts
CA394208895 rs_1253188873

7 SubmittersRCV003408686RCV004723302RCV005406679RCV004786937RCV005871153

NM_014714.4(IFT140):c.811-2A>G SNV
Germline
Chr16:1588026 Likely pathogenic Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA394217928 rs_1596419766

2 SubmittersRCV003531018RCV005014785

NM_014714.4(IFT140):c.1221G>C (p.Arg407=) SNV
Germline
Chr16:1584355 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
IFT140-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7814397 rs_761080545

3 SubmittersRCV003531271RCV003966538RCV003889311

NM_014714.4(IFT140):c.2864+2T>C SNV
Germline
Chr16:1525229 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394226647 rs_2506121441

1 SubmittersRCV003646176

NM_014714.4(IFT140):c.2400-1G>A SNV
Germline
Chr16:1526797 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394228602 rs_2506136762

1 SubmittersRCV003646389

NM_014714.4(IFT140):c.2997+2T>C SNV
Germline
Chr16:1524782 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394226203 rs_2506115439

1 SubmittersRCV003646848

NM_014714.4(IFT140):c.382C>G (p.Leu128Val) SNV
Germline
Chr16:1592576 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA394221104 rs_1276436237

2 SubmittersRCV003646950RCV005587494

NM_014714.4(IFT140):c.2T>C (p.Met1Thr) SNV
Germline
Chr16:1607265 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394194895 rs_1229896671

1 SubmittersRCV003646931

NM_014714.4(IFT140):c.2142T>C (p.Pro714=) SNV
Germline
Chr16:1562042 Conflicting classifications of pathogenicity Retinal dystrophy
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA492922831 rs_1372854875

2 SubmittersRCV003889332RCV003647028

NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter) SNV
Germline
Chr16:1524633 Pathogenic Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts
CA7813339 rs_545658252

2 SubmittersRCV003647104RCV005013161

NM_014714.4(IFT140):c.2475G>T (p.Gly825=) SNV
Germline
Chr16:1526721 Conflicting classifications of pathogenicity Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7813617 rs_773701460

2 SubmittersRCV005015006RCV003829338

NM_014714.4(IFT140):c.3271-2A>C SNV
Germline
Chr16:1523702 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA394225531 rs_2506103002

1 SubmittersRCV003889697

NM_014714.4(IFT140):c.2772C>G (p.Tyr924Ter) SNV
Germline
Chr16:1525323 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA394226985 rs_749330035

1 SubmittersRCV003889704

NM_014714.4(IFT140):c.2717G>T (p.Arg906Leu) SNV
Germline
Chr16:1525938 Conflicting classifications of pathogenicity Retinal dystrophy
Inborn genetic diseases
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA394227270 rs_754338217

4 SubmittersRCV003889706RCV004369722RCV006478779RCV005015081

NM_014714.4(IFT140):c.2654G>A (p.Trp885Ter) SNV
Germline
Chr16:1526001 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA394227516 rs_2141180025

1 SubmittersRCV003889708

NM_014714.4(IFT140):c.1963C>T (p.Gln655Ter) SNV
Germline
Chr16:1564101 Likely pathogenic Retinitis pigmentosa 80
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394204973 rs_772603273

2 SubmittersRCV003991116RCV005015111

NM_014714.4(IFT140):c.4009G>A (p.Ala1337Thr) SNV
Germline
Chr16:1519912 Conflicting classifications of pathogenicity Inborn genetic diseases
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications
CA7812955 rs_762750524

2 SubmittersRCV004400275RCV005006383

NM_014714.4(IFT140):c.2200-1G>C SNV
Germline
Chr16:1558135 Likely pathogenic Retinitis pigmentosa 80 Criteria Provided
Single Submitter
CA394201396 rs_2507094628

1 SubmittersRCV004555307

NM_014714.4(IFT140):c.648T>G (p.Tyr216Ter) SNV
Germline
Chr16:1589767 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter
CA394219000 rs_2507935242

1 SubmittersRCV004555781

NM_014714.4(IFT140):c.2086T>C (p.Ser696Pro) SNV
Germline
Chr16:1562098 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004720098

NM_014714.4(IFT140):c.1432+1G>A SNV
Germline
Chr16:1583313 Likely pathogenic IFT140-related disorder
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

2 SubmittersRCV004753759RCV005006515

NM_014714.4(IFT140):c.2712C>A (p.Tyr904Ter) SNV
Germline
Chr16:1525943 Likely pathogenic IFT140-related disorder No Assertion Criteria Provided

1 SubmittersRCV004753867

NM_014714.4(IFT140):c.2769-1G>T SNV
Germline
Chr16:1525327 Conflicting classifications of pathogenicity Renal cyst
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004788392RCV005006560

NM_014714.4(IFT140):c.1652+1G>T SNV
Germline
Chr16:1571406 Likely pathogenic Renal cyst Criteria Provided
Single Submitter

1 SubmittersRCV004788429

NM_014714.4(IFT140):c.2577+2T>C SNV
Germline
Chr16:1526617 Likely pathogenic Retinitis pigmentosa 80 Criteria Provided
Single Submitter

1 SubmittersRCV004797670

NM_014714.4(IFT140):c.2776A>T (p.Lys926Ter) SNV
Germline
Chr16:1525319 Likely pathogenic Retinitis pigmentosa 80 Criteria Provided
Single Submitter

1 SubmittersRCV004820353

NM_014714.4(IFT140):c.1359+1G>C SNV
Germline
Chr16:1584216 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005019746

NM_014714.4(IFT140):c.1290C>T (p.Cys430=) SNV
Germline
Chr16:1584286 Conflicting classifications of pathogenicity Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005019747RCV006489097

NM_014714.4(IFT140):c.1229C>A (p.Ser410Ter) SNV
Germline
Chr16:1584347 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005013875

NM_014714.4(IFT140):c.1158G>A (p.Trp386Ter) SNV
Germline
Chr16:1584418 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005019751

NM_014714.4(IFT140):c.1107G>A (p.Trp369Ter) SNV
Germline
Chr16:1586178 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005013877

NM_014714.4(IFT140):c.996C>G (p.Tyr332Ter) SNV
Germline
Chr16:1587211 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005019755

NM_014714.4(IFT140):c.909G>A (p.Trp303Ter) SNV
Germline
Chr16:1587298 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005013880

NM_014714.4(IFT140):c.882C>A (p.Ala294=) SNV
Germline
Chr16:1587953 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005013881RCV005061872

NM_014714.4(IFT140):c.810+1G>A SNV
Germline
Chr16:1589604 Likely pathogenic Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Thyroid cancer, nonmedullary, 1
Renal cyst
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005019758RCV005937615RCV006257399

NM_014714.4(IFT140):c.390G>A (p.Trp130Ter) SNV
Germline
Chr16:1592568 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005019767

NM_014714.4(IFT140):c.370-2A>T SNV
Germline
Chr16:1592590 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005019768

NM_014714.4(IFT140):c.332G>A (p.Trp111Ter) SNV
Germline
Chr16:1602407 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Polycystic kidney disease 9, susceptibility to
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005019770RCV005863928

NM_014714.4(IFT140):c.175G>T (p.Glu59Ter) SNV
Germline
Chr16:1602564 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005019774

NM_014714.4(IFT140):c.74C>G (p.Pro25Arg) SNV
Germline
Chr16:1607193 Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005019777RCV005112607

NM_014714.4(IFT140):c.3484C>T (p.Gln1162Ter) SNV
Germline
Chr16:1520778 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005017668

NM_014714.4(IFT140):c.3454-1G>A SNV
Germline
Chr16:1520809 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005013816

NM_014714.4(IFT140):c.3222C>G (p.Tyr1074Ter) SNV
Germline
Chr16:1523876 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005017670

NM_014714.4(IFT140):c.3219C>A (p.Tyr1073Ter) SNV
Germline
Chr16:1523879 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005013821

NM_014714.4(IFT140):c.3079G>C (p.Gly1027Arg) SNV
Germline
Chr16:1524614 Conflicting classifications of pathogenicity Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005013822RCV006489094

NM_014714.4(IFT140):c.2997+13C>T SNV
Germline
Chr16:1524771 Conflicting classifications of pathogenicity Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005013824RCV006631271

NM_014714.4(IFT140):c.2882G>A (p.Trp961Ter) SNV
Germline
Chr16:1524899 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005013826

NM_014714.4(IFT140):c.2864+1G>A SNV
Germline
Chr16:1525230 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005017671

NM_014714.4(IFT140):c.2638C>T (p.Gln880Ter) SNV
Germline
Chr16:1526017 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005013828RCV005861389

NM_014714.4(IFT140):c.2469C>T (p.Cys823=) SNV
Germline
Chr16:1526727 Conflicting classifications of pathogenicity Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005013832RCV006489095

NM_014714.4(IFT140):c.1770+1G>A SNV
Germline
Chr16:1568216 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Criteria Provided
Single Submitter

1 SubmittersRCV005017686

NM_014714.4(IFT140):c.1619T>A (p.Leu540Ter) SNV
Germline
Chr16:1571440 Likely pathogenic Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinitis pigmentosa 80
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005019664RCV005235785

NM_014714.4(IFT140):c.3331C>T (p.Gln1111Ter) SNV
Germline
Chr16:1523640 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005060018

NM_014714.4(IFT140):c.2980C>T (p.Gln994Ter) SNV
Germline
Chr16:1524801 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005133981

NM_014714.4(IFT140):c.1653-2A>G SNV
Germline
Chr16:1568336 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005195770

NM_014714.4(IFT140):c.2471T>C (p.Leu824Pro) SNV
Germline
Chr16:1526725 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005233281

NM_014714.4(IFT140):c.4017G>A (p.Val1339=) SNV
Germline
Chr16:1519904 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005349706RCV005416804

NM_014714.4(IFT140):c.2199+4C>T SNV
Germline
Chr16:1561981 Conflicting classifications of pathogenicity not specified
Saldino-Mainzer syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005434196RCV006567578

NM_014714.4(IFT140):c.2767T>G (p.Tyr923Asp) SNV
Germline
Chr16:1525888 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005622433

NM_014714.4(IFT140):c.2563C>T (p.Gln855Ter) SNV
Germline
Chr16:1526633 Likely pathogenic Cranioectodermal dysplasia 5
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005627236RCV006249418

NM_014714.4(IFT140):c.2931C>A (p.Tyr977Ter) SNV
Germline
Chr16:1524850 Pathogenic Renal cyst Criteria Provided
Single Submitter

1 SubmittersRCV006257738

NM_014714.4(IFT140):c.2067+1G>A SNV
Germline
Chr16:1563996 Likely pathogenic Renal cyst Criteria Provided
Single Submitter

1 SubmittersRCV006257740

NM_014714.4(IFT140):c.138C>G (p.Tyr46Ter) SNV
Germline
Chr16:1607129 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006494995

NM_014714.4(IFT140):c.3271-1G>A SNV
Germline
Chr16:1523701 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006496837

NM_014714.4(IFT140):c.2400-2A>C SNV
Germline
Chr16:1526798 Likely pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006511574

NM_014714.4(IFT140):c.151G>T (p.Glu51Ter) SNV
Germline
Chr16:1602588 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006521695

NM_014714.4(IFT140):c.2254C>T (p.Gln752Ter) SNV
Unknown
Chr16:1558080 Likely pathogenic Autosomal dominant polycystic kidney disease Criteria Provided
Single Submitter

1 SubmittersRCV006546503

NM_014714.4(IFT140):c.2659G>T (p.Glu887Ter) SNV
Unknown
Chr16:1525996 Pathogenic Autosomal dominant polycystic kidney disease Criteria Provided
Single Submitter

1 SubmittersRCV006546504

NM_014714.4(IFT140):c.69G>A (p.Trp23Ter) SNV
Germline
Chr16:1607198 Pathogenic Saldino-Mainzer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006570606