Sugi Variant

Sugi Variant/IFT172

IFT172 — 2035 ClinVar variants

All ClinVar germline IFT172 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 859 flagged for review →

64 Pathogenic · 27 Pathogenic/Likely pathogenic · 64 Likely pathogenic · 105 Conflicting · 39 Benign · 32 Benign/Likely benign · 783 Likely benign · 921 Uncertain significance

Full IFT172 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 859

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 55

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 604

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 604

Predictors split 199

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 199

All IFT172 variants

Pathogenic 64

  • p.Arg1642fs Multiple submitters retinitis pigmentosa 71
  • p.Arg448fs Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Cys1727Arg Multiple submitters IFT172-related disorder
  • c.1412-1G>C Single submitter retinitis pigmentosa 71
  • c.1412-2A>G Single submitter retinitis pigmentosa 71
  • c.299delG Single submitter Inborn genetic diseases
  • p.Ala1210fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1646Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg271Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg50Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg658Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Asp765fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Gln1188Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Gln1217fs Single submitter retinitis pigmentosa 71
  • p.Gln1548Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Gln1656Ter Single submitter retinitis pigmentosa 71
  • p.Gln716Ter Single submitter retinitis pigmentosa 71
  • p.Gln745Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Gln906Ter Single submitter
  • p.Gln956Ter Single submitter retinitis pigmentosa 71
  • p.Glu1143fs Single submitter retinitis pigmentosa 71
  • p.Glu1159Ter Single submitter
  • p.Glu1212Ter Single submitter retinitis pigmentosa 71
  • p.Glu1498fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu737Ter Single submitter retinitis pigmentosa 71
  • p.Gly713fs Single submitter retinal disorder
  • p.His372fs Single submitter retinitis pigmentosa 71
  • p.His439fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.His921fs Single submitter retinitis pigmentosa 71
  • p.Ile81fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu137Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu292fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Lys1317Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Lys144fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Lys519Ter Single submitter retinitis pigmentosa 71
  • p.Lys65fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Lys693fs Single submitter retinitis pigmentosa 71
  • p.Phe1399fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Phe403fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Phe681fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ser1255fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ser1305fs Single submitter retinitis pigmentosa 71
  • p.Ser1561fs Single submitter retinitis pigmentosa 71
  • p.Ser1618fs Single submitter retinitis pigmentosa 71
  • p.Thr1533fs Single submitter retinitis pigmentosa 71
  • p.Thr231fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Trp1315Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Trp1503Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Trp746Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Trp896Ter Single submitter retinitis pigmentosa 71
  • p.Tyr1466Ter Single submitter inherited retinal dystrophy
  • p.Tyr368Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Tyr715Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Val558fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Val567_Ile568insTer Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3112-5T>A No assertion criteria retinitis pigmentosa 71
  • c.3228+1G>A No assertion criteria Short-rib thoracic dysplasia 10 without polydactyly
  • c.4428+3A>G No assertion criteria Bardet-Biedl syndrome 20
  • p.Asp1605Glu No assertion criteria retinitis pigmentosa 71 ⚠
  • p.Asp464_Ile465del No assertion criteria Short-rib thoracic dysplasia 10 without polydactyly
  • p.Gln253Ter No assertion criteria inherited retinal dystrophy
  • p.Ile411Asn No assertion criteria short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu257Pro No assertion criteria retinitis pigmentosa 71
  • p.Met748fs No assertion criteria IFT172-related disorder

Pathogenic/Likely pathogenic 27

  • c.1525-1G>A Multiple submitters IFT172-related disorder
  • c.3821+1G>A Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1044Ter Multiple submitters retinitis pigmentosa 71
  • p.Arg1284Ter Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1303Ter Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1507Ter Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1544Cys Multiple submitters Joubert syndrome
  • p.Arg1682Ter Multiple submitters retinitis pigmentosa 71
  • p.Arg318Ter Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg346Ter Multiple submitters IFT172-related disorder
  • p.Arg38Ter Multiple submitters IFT172-related disorder
  • p.Arg685Ter Multiple submitters IFT172-related disorder
  • p.Arg720fs Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg789Ter Multiple submitters IFT172-related disorder
  • p.Arg846Ter Multiple submitters retinitis pigmentosa 71
  • p.Asp862fs Multiple submitters Bardet-Biedl syndrome 20
  • p.Cys882Ter Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu1265Ter Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu327Ter Multiple submitters retinitis pigmentosa 71
  • p.Glu359_Val360insTer Multiple submitters Bardet-Biedl syndrome 20
  • p.His1567Gln Multiple submitters IFT172-related disorder ⚠
  • p.Leu1597fs Multiple submitters retinitis pigmentosa 71
  • p.Leu818_Phe819insTer Multiple submitters retinitis pigmentosa 71
  • p.Leu856fs Multiple submitters IFT172-related disorder
  • p.Thr624fs Multiple submitters Bardet-Biedl syndrome 20
  • p.Tyr922Ter Multiple submitters retinitis pigmentosa 71
  • p.Val155fs Multiple submitters IFT172-related disorder

Likely pathogenic 64

  • c.1411+2T>C Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.184-2A>C Multiple submitters IFT172-related disorder
  • c.2443-1G>C Multiple submitters Bardet-Biedl syndrome 20
  • c.2976-2A>T Multiple submitters Bardet-Biedl syndrome 20
  • c.3111+1G>T Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.786-2A>G Multiple submitters IFT172-related disorder
  • p.Ile878fs Multiple submitters Bardet-Biedl syndrome 20
  • c.1167+1G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1221+1G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1222-1G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1326-1G>A Single submitter retinitis pigmentosa 71
  • c.1525-2A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1692+1G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1693-1G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.184-1G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2116-2A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2521+1G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2521+1G>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3111+1del Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.336+2T>G Single submitter retinitis pigmentosa 71
  • c.3712-2A>T Single submitter retinitis pigmentosa 71
  • c.3822-2_3822-1del Single submitter retinitis pigmentosa 71
  • c.3952-1G>C Single submitter retinitis pigmentosa 71
  • c.402+2del Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.402+2T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4051-1G>A Single submitter retinitis pigmentosa 71
  • c.4224+1G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4311+1G>A Single submitter retinitis pigmentosa 71
  • c.4429-178_4436del Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4815+1G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4815+2_4815+3del Single submitter retinitis pigmentosa 71
  • c.482+1G>A Single submitter retinitis pigmentosa 71
  • c.483-2A>G Single submitter IFT172-related disorder
  • c.5069-2A>G Single submitter retinitis pigmentosa 71
  • c.570+1G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.910-2A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1294fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1544fs Single submitter IFT172-related disorder
  • p.Arg543Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Gln751Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu1073fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu1220Ter Single submitter IFT172-related disorder
  • p.Glu1265fs Single submitter IFT172-related disorder
  • p.Glu188fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu45Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu616Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu692fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu843Ter Single submitter
  • p.Ile1431fs Single submitter
  • p.Leu1211fs Single submitter IFT172-related disorder
  • p.Lys103Ter Single submitter retinitis pigmentosa 71
  • p.Lys738Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Phe435fs Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ser1133fs Single submitter Bardet-Biedl syndrome 20
  • p.Trp1071Ter Single submitter IFT172-related disorder
  • p.Trp1427Ter Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Trp99Ter Single submitter IFT172-related disorder
  • p.Tyr1578Cys Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Tyr461_Leu462insTer Single submitter IFT172-related disorder
  • c.337-2A>C No assertion criteria IFT172-related disorder
  • p.Ala804fs No assertion criteria IFT172-related disorder
  • p.Gln1227Ter No assertion criteria IFT172-related disorder
  • p.Gln1341fs No assertion criteria IFT172-related disorder
  • p.Trp1094Ter No assertion criteria IFT172-related disorder

Conflicting classifications of pathogenicity 105

  • c.1005+10A>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1325+6C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1524+2_1524+3del Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1525-6C>G Single submitter Bardet-Biedl syndrome 20
  • c.184-6T>A Single submitter retinitis pigmentosa 71
  • c.2442+13C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2443-3C>T Single submitter retinitis pigmentosa 71
  • c.297-13T>C Single submitter retinitis pigmentosa 71
  • c.2976-3C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3229-9G>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.337-5C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.402+2T>G Single submitter retinitis pigmentosa 71
  • c.4311+5T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4539+6G>A Single submitter retinitis pigmentosa 71
  • c.4914+1G>A Single submitter Bardet-Biedl syndrome 20
  • c.5069-3C>T Single submitter retinitis pigmentosa 71
  • c.5161-5C>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.786-18C>G Single submitter retinitis pigmentosa 71
  • c.786-2A>T Single submitter IFT172-related disorder
  • c.909+12G>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ala1060Thr Single submitter retinitis pigmentosa 71 ⚠
  • p.Ala1377Val Single submitter Bardet-Biedl syndrome 20 ⚠
  • p.Ala1538Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1558Val Single submitter retinitis pigmentosa 71 ⚠
  • p.Ala293Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala655Val Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ala657Thr Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg1225Gln Single submitter Inborn genetic diseases
  • p.Arg1284Gln Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg1294Cys Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg1455Trp Single submitter inherited retinal dystrophy ⚠
  • p.Arg1483Lys Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg1599Cys Single submitter retinitis pigmentosa 71 ⚠
  • p.Arg1702Trp Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg241= Single submitter IFT172-related disorder
  • p.Arg241Trp Single submitter IFT172-related disorder ⚠
  • p.Arg271Gln Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg296Trp Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg300Gln Single submitter retinitis pigmentosa 71 ⚠
  • p.Arg386Gln Single submitter retinitis pigmentosa 71 ⚠
  • p.Arg487Cys Single submitter Bardet-Biedl syndrome 20 ⚠
  • p.Arg505Trp Single submitter retinitis pigmentosa 71 ⚠
  • p.Arg508His Single submitter inherited retinal dystrophy ⚠
  • p.Arg543Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg564Lys Single submitter Bardet-Biedl syndrome 20 ⚠
  • p.Arg672Gln Single submitter retinitis pigmentosa 71 ⚠
  • p.Arg672Trp Single submitter retinitis pigmentosa 71 ⚠
  • p.Arg720Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg720His Single submitter inherited retinal dystrophy ⚠
  • p.Arg740Cys Single submitter retinitis pigmentosa 71 ⚠
  • p.Arg741His Single submitter retinitis pigmentosa 71 ⚠
  • p.Arg784Gln Single submitter retinitis pigmentosa 71 ⚠
  • p.Arg784Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg908Trp Single submitter retinitis pigmentosa 71 ⚠
  • p.Arg953Cys Single submitter Inborn genetic diseases ⚠
  • p.Asn1123= Single submitter retinitis pigmentosa 71
  • p.Asn1123Ser Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asn1307= Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Asp1014Val Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asp1393Asn Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asp472Asn Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Cys106= Single submitter retinitis pigmentosa 71
  • p.Gln119= Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Gln1403His Single submitter retinitis pigmentosa 71 ⚠
  • p.Gln866Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu1258Lys Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu1383Lys Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu1498Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1522Lys Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu97Asp Single submitter retinitis pigmentosa 71 ⚠
  • p.Gly1275Val Single submitter retinitis pigmentosa 71 ⚠
  • p.Gly1425Asp Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gly150Ala Single submitter retinitis pigmentosa 71 ⚠
  • p.Gly476Ser Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gly573Asp Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.His1636Gln Single submitter Bardet-Biedl syndrome 20 ⚠
  • p.His661Gln Single submitter Inborn genetic diseases ⚠
  • p.Ile1537= Single submitter inherited retinal dystrophy
  • p.Ile701= Single submitter retinitis pigmentosa 71
  • p.Leu1002His Single submitter Inborn genetic diseases
  • p.Leu1257= Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu1650= Single submitter retinitis pigmentosa 71
  • p.Leu382= Single submitter inherited retinal dystrophy
  • p.Lys1436Thr Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Met1654Val Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Phe1531Leu Single submitter Bardet-Biedl syndrome 20 ⚠
  • p.Pro1025Ala Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Pro197Leu Single submitter retinitis pigmentosa 71 ⚠
  • p.Pro438Leu Single submitter Bardet-Biedl syndrome 20
  • p.Ser924Ala Single submitter retinitis pigmentosa 71 ⚠
  • p.Thr1604Ile Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Thr1623Ile Single submitter Bardet-Biedl syndrome 20 ⚠
  • p.Thr20Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr329Met Single submitter Bardet-Biedl syndrome 20 ⚠
  • p.Thr79Ala Single submitter Bardet-Biedl syndrome 20 ⚠
  • p.Tyr91= Single submitter retinitis pigmentosa 71
  • p.Tyr922Cys Single submitter retinitis pigmentosa 71 ⚠
  • p.Val1090Met Single submitter inherited retinal dystrophy ⚠
  • p.Val1556Met Single submitter retinitis pigmentosa 71 ⚠
  • p.Val1637Ile Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Val177Ile Single submitter retinitis pigmentosa 71 ⚠
  • p.Val33Ala Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Val482Gly Single submitter IFT172-related disorder ⚠
  • p.Val482Ile Single submitter Inborn genetic diseases ⚠
  • p.Val865Met Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠

Benign 39

Benign/Likely benign 32

  • c.1525-17G>A Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1525-6C>T Multiple submitters retinitis pigmentosa 71
  • c.184-23dup Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2443-19A>G Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.337-12C>T Multiple submitters retinitis pigmentosa 71
  • c.3711+3G>A Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3951+14G>T Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.402+8A>C Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4428+5C>G Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4540-6C>T Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4659+16T>C Multiple submitters Bardet-Biedl syndrome 20
  • c.4755+9G>C Multiple submitters Bardet-Biedl syndrome 20
  • c.4815+9G>A Multiple submitters retinitis pigmentosa 71
  • c.5161-20G>A Multiple submitters retinitis pigmentosa 71
  • c.571-15C>G Multiple submitters retinitis pigmentosa 71
  • p.Arg1134Leu Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg908Gln Multiple submitters inherited retinal dystrophy
  • p.Arg953His Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Asn446= Multiple submitters retinitis pigmentosa 71
  • p.Asn478Ile Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Asp1729= Multiple submitters Bardet-Biedl syndrome 20
  • p.Gln1424= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.His1119= Multiple submitters retinitis pigmentosa 71
  • p.Met560Val Multiple submitters retinitis pigmentosa 71
  • p.Phe1158= Multiple submitters retinitis pigmentosa 71
  • p.Ser1198= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Thr305= Multiple submitters Bardet-Biedl syndrome 20
  • p.Thr562Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Val1204Leu Multiple submitters retinitis pigmentosa 71
  • p.Val1338= Multiple submitters Bardet-Biedl syndrome 20
  • p.Val1645Ile Multiple submitters retinitis pigmentosa 71
  • p.Val851Leu Multiple submitters Inborn genetic diseases

Likely benign 783

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1006-10C>T Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1006-13G>C Multiple submitters retinitis pigmentosa 71
  • c.1168-72G>A Multiple submitters
  • c.1168-7G>A Multiple submitters retinitis pigmentosa 71
  • c.1221+113G>A Multiple submitters
  • c.1222-12C>T Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1325+14A>T Multiple submitters retinitis pigmentosa 71
  • c.1524+20C>T Multiple submitters retinitis pigmentosa 71
  • c.1524+7A>G Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1525-19C>T Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1693-19G>T Multiple submitters Bardet-Biedl syndrome 20
  • c.183+17T>C Multiple submitters retinitis pigmentosa 71
  • c.1830-13C>T Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.184-10A>T Multiple submitters retinitis pigmentosa 71
  • c.184-81A>T Multiple submitters
  • c.184-8del Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2023-15C>A Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2023-18C>T Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2116-5C>T Multiple submitters retinitis pigmentosa 71
  • c.2193+10T>A Multiple submitters retinitis pigmentosa 71
  • c.2194-10G>T Multiple submitters retinitis pigmentosa 71
  • c.2442+16T>A Multiple submitters retinitis pigmentosa 71
  • c.2521+11C>T Multiple submitters retinitis pigmentosa 71
  • c.2521+18G>A Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2642+12T>G Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2642+13G>A Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2787+10A>G Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2787+20C>T Multiple submitters Bardet-Biedl syndrome 20
  • c.2787+6G>A Multiple submitters Bardet-Biedl syndrome 20
  • c.2877+16G>A Multiple submitters retinitis pigmentosa 71
  • c.2877+8T>C Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.297-52C>T Multiple submitters
  • c.2975+14C>T Multiple submitters retinitis pigmentosa 71
  • c.2975+8G>A Multiple submitters retinitis pigmentosa 71
  • c.3229-40G>A Multiple submitters
  • c.337-11C>T Multiple submitters Bardet-Biedl syndrome 20
  • c.337-4G>A Multiple submitters retinitis pigmentosa 71
  • c.3371+26G>A Multiple submitters
  • c.3466-13TC[2] Multiple submitters retinitis pigmentosa 71
  • c.3530+11C>G Multiple submitters retinitis pigmentosa 71
  • c.3530+12C>G Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3711+13A>T Multiple submitters retinitis pigmentosa 71
  • c.3711+17A>G Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3822-16G>A Multiple submitters retinitis pigmentosa 71
  • c.39+13G>A Multiple submitters Bardet-Biedl syndrome 20
  • c.3952-19C>T Multiple submitters Bardet-Biedl syndrome 20
  • c.4051-20G>A Multiple submitters retinitis pigmentosa 71
  • c.4051-9A>G Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4160+19_4160+21del Multiple submitters retinitis pigmentosa 71
  • c.4161-16C>T Multiple submitters Bardet-Biedl syndrome 20
  • c.4225-17G>A Multiple submitters retinitis pigmentosa 71
  • c.4539+10C>T Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4539+11G>A Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.4539+18C>T Multiple submitters retinitis pigmentosa 71
  • c.4659+18G>A Multiple submitters retinitis pigmentosa 71
  • c.4756-41C>A Multiple submitters
  • c.4816-6C>T Multiple submitters retinitis pigmentosa 71
  • c.4816-8T>C Multiple submitters retinitis pigmentosa 71
  • c.4816-9_4816-8del Multiple submitters retinitis pigmentosa 71
  • c.482+56G>A Multiple submitters
  • c.483-9C>T Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.5160+10G>A Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.5160+16T>G Multiple submitters retinitis pigmentosa 71
  • c.5161-12A>G Multiple submitters retinitis pigmentosa 71
  • c.570+19G>A Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.571-10T>C Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.571-34G>A Multiple submitters
  • c.786-12A>G Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.786-15C>T Multiple submitters retinitis pigmentosa 71
  • p.Ala1129= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ala1163= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ala1311= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ala1377= Multiple submitters retinitis pigmentosa 71
  • p.Ala1416= Multiple submitters retinitis pigmentosa 71
  • p.Ala644= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ala889= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ala890= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ala961= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1018= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1330= Multiple submitters retinitis pigmentosa 71
  • p.Arg264= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg572= Multiple submitters
  • p.Arg755Gln Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Asn1495= Multiple submitters retinitis pigmentosa 71
  • p.Asn1708Lys Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asp1183= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Asp1195= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Asp1244= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Asp504= Multiple submitters retinitis pigmentosa 71
  • p.Asp536= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Cys1430= Multiple submitters retinitis pigmentosa 71
  • p.Gln1552= Multiple submitters retinitis pigmentosa 71
  • p.Gln230= Multiple submitters retinitis pigmentosa 71
  • p.Gln530= Multiple submitters retinitis pigmentosa 71
  • p.Glu1372= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu152= Multiple submitters Bardet-Biedl syndrome 20
  • p.Glu857= Multiple submitters retinitis pigmentosa 71
  • p.Glu932= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Gly1221= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Gly573= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Gly675= Multiple submitters retinitis pigmentosa 71
  • p.His1089= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.His1469= Multiple submitters retinitis pigmentosa 71
  • p.His2= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ile1365= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ile1369= Multiple submitters Bardet-Biedl syndrome 20
  • p.Ile176= Multiple submitters retinitis pigmentosa 71
  • p.Ile597= Multiple submitters retinitis pigmentosa 71
  • p.Ile643= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ile90= Multiple submitters Bardet-Biedl syndrome 20
  • p.Leu1053= Multiple submitters retinitis pigmentosa 71
  • p.Leu118= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu1233= Multiple submitters retinitis pigmentosa 71
  • p.Leu1463= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu1631= Multiple submitters retinitis pigmentosa 71
  • p.Leu257= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu306= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu387= Multiple submitters
  • p.Leu546= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu6= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu631= Multiple submitters retinitis pigmentosa 71
  • p.Leu767= Multiple submitters retinitis pigmentosa 71
  • p.Lys1378= Multiple submitters Bardet-Biedl syndrome 20
  • p.Lys1634= Multiple submitters retinitis pigmentosa 71
  • p.Lys781= Multiple submitters retinitis pigmentosa 71
  • p.Lys983= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Pro1142= Multiple submitters retinitis pigmentosa 71
  • p.Pro121= Multiple submitters retinitis pigmentosa 71
  • p.Pro1626= Multiple submitters retinitis pigmentosa 71
  • p.Pro197= Multiple submitters inherited retinal dystrophy
  • p.Pro438= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ser1308= Multiple submitters retinitis pigmentosa 71
  • p.Ser145= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Thr1543= Multiple submitters retinitis pigmentosa 71
  • p.Thr1604= Multiple submitters retinitis pigmentosa 71
  • p.Thr244= Multiple submitters Bardet-Biedl syndrome 20
  • p.Thr329= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Thr577= Multiple submitters inherited retinal dystrophy
  • p.Thr796= Multiple submitters retinitis pigmentosa 71
  • p.Thr86= Multiple submitters retinitis pigmentosa 71
  • p.Tyr287= Multiple submitters retinitis pigmentosa 71
  • p.Tyr744= Multiple submitters retinitis pigmentosa 71
  • p.Tyr812= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Val1062= Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Val1199= Multiple submitters retinitis pigmentosa 71
  • p.Val1410Leu Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1005+18C>T Single submitter retinitis pigmentosa 71
  • c.1005+37C>T Single submitter
  • c.1006-11C>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1006-14T>A Single submitter retinitis pigmentosa 71
  • c.1006-16C>A Single submitter retinitis pigmentosa 71
  • c.1006-16C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1006-19dup Single submitter retinitis pigmentosa 71
  • c.1006-20C>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1167+17A>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1167+18G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1167+20G>A Single submitter retinitis pigmentosa 71
  • c.1167+8C>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1168-12C>T Single submitter retinitis pigmentosa 71
  • c.1168-15C>T Single submitter retinitis pigmentosa 71
  • c.1168-16T>C Single submitter retinitis pigmentosa 71
  • c.1168-17G>A Single submitter retinitis pigmentosa 71
  • c.1168-8C>T Single submitter retinitis pigmentosa 71
  • c.1221+20C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1222-15C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1222-5C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1222-6T>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1222-9T>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1325+10C>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1325+11A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1326-10C>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1326-17C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1326-19C>T Single submitter retinitis pigmentosa 71
  • c.1326-8T>C Single submitter retinitis pigmentosa 71
  • c.1326-9A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1326-9A>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1411+11C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1411+12TC[2] Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1411+13C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1411+17C>T Single submitter retinitis pigmentosa 71
  • c.1411+7A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1411+8A>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1412-14C>T Single submitter retinitis pigmentosa 71
  • c.1412-161G>C Single submitter
  • c.1412-16C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1412-20C>G Single submitter retinitis pigmentosa 71
  • c.1524+10G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1524+11C>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1524+19G>T Single submitter retinitis pigmentosa 71
  • c.1525-15C>T Single submitter
  • c.1525-17G>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1525-20C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1692+12A>T Single submitter retinitis pigmentosa 71
  • c.1692+18G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1692+19G>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1692+65C>T Single submitter
  • c.1692+9G>A Single submitter retinitis pigmentosa 71
  • c.1693-15G>A Single submitter retinitis pigmentosa 71
  • c.1693-238A>T Single submitter
  • c.1693-7T>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1693-8T>A Single submitter retinitis pigmentosa 71
  • c.1693-9C>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1829+70G>T Single submitter
  • c.1829+7G>A Single submitter retinitis pigmentosa 71
  • c.183+13T>C Single submitter retinitis pigmentosa 71
  • c.183+63C>T Single submitter
  • c.183+7A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.183+8G>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1830-12T>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1830-6T>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1830-8C>T Single submitter retinitis pigmentosa 71
  • c.1938-14C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.1938-15G>A Single submitter retinitis pigmentosa 71
  • c.1938-17T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2022+13C>T Single submitter retinitis pigmentosa 71
  • c.2022+7A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2023-20A>G Single submitter retinitis pigmentosa 71
  • c.2023-5C>G Single submitter retinitis pigmentosa 71
  • c.2023-7C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2023-9_2023-8insAA Single submitter retinitis pigmentosa 71
  • c.2115+12A>G Single submitter retinitis pigmentosa 71
  • c.2115+15G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2115+7G>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2116-11G>C Single submitter retinitis pigmentosa 71
  • c.2116-11G>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2116-5C>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2116-7C>T Single submitter retinitis pigmentosa 71
  • c.2193+13T>C Single submitter retinitis pigmentosa 71
  • c.2193+14C>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2193+16_2193+18del Single submitter retinitis pigmentosa 71
  • c.2193+16T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2193+18T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2194-10G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2194-12G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2194-15T>G Single submitter retinitis pigmentosa 71
  • c.2194-18T>C Single submitter
  • c.2194-6G>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2194-7T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2194-8A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2194-9C>A Single submitter retinitis pigmentosa 71
  • c.2442+14C>T Single submitter retinitis pigmentosa 71
  • c.2442+9G>C Single submitter retinitis pigmentosa 71
  • c.2443-14G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2443-14G>T Single submitter retinitis pigmentosa 71
  • c.2443-17G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2443-18T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2521+15T>A Single submitter retinitis pigmentosa 71
  • c.2521+183G>C Single submitter
  • c.2521+243T>C Single submitter
  • c.2522-11C>T Single submitter retinitis pigmentosa 71
  • c.2522-15T>C Single submitter retinitis pigmentosa 71
  • c.2522-18C>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2642+11A>T Single submitter retinitis pigmentosa 71
  • c.2642+12T>C Single submitter retinitis pigmentosa 71
  • c.2642+18T>C Single submitter retinitis pigmentosa 71
  • c.2643-12del Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2643-15T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2643-18C>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2643-18C>G Single submitter retinitis pigmentosa 71
  • c.2643-4C>T Single submitter retinitis pigmentosa 71
  • c.2788-11A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2788-12C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2788-20C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2877+10G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2877+148C>T Single submitter
  • c.2878-13T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2878-19T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2878-4A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.296+12G>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.297-15del Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2975+16A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2976-16G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2976-19G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.2976-6C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3111+20C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3111+7C>T Single submitter retinitis pigmentosa 71
  • c.3112-15C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3112-19C>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3112-20C>T Single submitter retinitis pigmentosa 71
  • c.3112-5T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3112-7C>T Single submitter retinitis pigmentosa 71
  • c.3228+13G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3228+14G>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3228+20C>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3229-17G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3229-255C>T Single submitter
  • c.3229-4A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.336+14C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.336+17T>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.336+20C>G Single submitter retinitis pigmentosa 71
  • c.3371+12A>G Single submitter retinitis pigmentosa 71
  • c.3371+20C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3371+7C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3371+9C>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3372-20A>G Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3372-9C>T Single submitter retinitis pigmentosa 71
  • c.3465+10T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3465+11G>T Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3465+8T>C Single submitter short-rib thoracic dysplasia 10 with or without polydactyly
  • c.3465+9G>A Single submitter short-rib thoracic dysplasia 10 with or without polydactyly

Uncertain significance 921

Showing the top 300 by review status; the full set is in the sitemap.

  • c.2193+5C>T Multiple submitters Bardet-Biedl syndrome 20
  • c.2788-3C>G Multiple submitters retinitis pigmentosa 71
  • c.3372-3C>T Multiple submitters retinitis pigmentosa 71
  • c.3712-3C>T Multiple submitters Bardet-Biedl syndrome 20
  • c.403-16A>G Multiple submitters retinitis pigmentosa 71
  • c.4050+6T>C Multiple submitters Inborn genetic diseases
  • c.571-3T>C Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • c.909+11A>G Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Ala1041Thr Multiple submitters inherited retinal dystrophy ⚠
  • p.Ala1086Val Multiple submitters intellectual disability ⚠
  • p.Ala1103Ser Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala1163Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala1200Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ala1200Thr Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ala1289Asp Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala1311Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala138Thr Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ala1473Thr Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Ala1497Thr Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala1669Thr Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ala1677Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ala1706Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1707Val Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Ala613Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ala644Glu Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala644Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala667Thr Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala711Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala726Thr Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala735Asp Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala780Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala805Ser Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ala837Thr Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ala841Val Multiple submitters inherited retinal dystrophy ⚠
  • p.Ala890Thr Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Ala899Thr Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1018Cys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg1018His Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1044Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1066Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1066Trp Multiple submitters Inborn genetic diseases
  • p.Arg1076Gly Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1134Gln Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg1134Trp Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Arg1189His Multiple submitters inherited retinal dystrophy ⚠
  • p.Arg1208Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1208Pro Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Arg1208Trp Multiple submitters inherited retinal dystrophy ⚠
  • p.Arg1225Trp Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1247Cys Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1266Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1266Trp Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1303Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1330His Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Arg136Cys Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg136His Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg1379Cys Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1379His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1455Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1544His Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Arg1559Ser Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1566His Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1646Gln Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Arg1657Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1657Trp Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg1664Gln Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg1667Cys Multiple submitters Bardet-Biedl syndrome 20
  • p.Arg1667His Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg1682Gln Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg217Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg217Trp Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg236Cys Multiple submitters inherited retinal dystrophy ⚠
  • p.Arg236Gly Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg236His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg241Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg264Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg264Trp Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg296Gln Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg300Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg318Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg319Lys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg367Cys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg367His Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg386Trp Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg38Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg432Cys Multiple submitters Inborn genetic diseases
  • p.Arg432His Multiple submitters retinitis pigmentosa 71
  • p.Arg444Cys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg444His Multiple submitters Bardet-Biedl syndrome 20
  • p.Arg451Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg487His Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg49Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg49Trp Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg505Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg508Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg572Gln Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg610Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg646Lys Multiple submitters ⚠
  • p.Arg658Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg687Cys Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Arg687His Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Arg741Cys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg755Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg789Gly Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg833His Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg846Leu Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Arg894Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg894His Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg940Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg940Trp Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg953Gly Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Arg966Thr Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Arg988Cys Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asn1234His Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asn1307Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1479Ser Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asn1495Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asn1598Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asn208Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asn267Ser Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asn285Ser Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asn324Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn413Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asn446del Multiple submitters Bardet-Biedl syndrome 20
  • p.Asn456Ile Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asn478Asp Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asn524Asp Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asn664Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asn88Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asp1001His Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asp1195Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1197Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1215Asn Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asp1251Val Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asp1413Glu Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asp1428Glu Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asp1605Asn Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Asp1616Gly Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Asp1655Gly Multiple submitters ⚠
  • p.Asp1710Asn Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Asp173Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp566Glu Multiple submitters IFT172-related disorder ⚠
  • p.Asp765Asn Multiple submitters IFT172-related disorder ⚠
  • p.Asp904Asn Multiple submitters ⚠
  • p.Cys1430Gly Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Cys1496Phe Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gln1056Glu Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Gln1256Arg Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Gln1329His Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Gln1394Glu Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gln1437Arg Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Gln1569His Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gln1728Lys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gln669Glu Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Gln716His Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gln745Pro Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Gln998His Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Glu1049Ala Multiple submitters retinitis pigmentosa 71
  • p.Glu1114Val Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu1155Asp Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Glu1159Lys Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Glu1201Lys Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Glu1213Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1238Ala Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu1238Lys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu1370Lys Multiple submitters inherited retinal dystrophy ⚠
  • p.Glu1530del Multiple submitters Inborn genetic diseases
  • p.Glu1530Lys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu1608Lys Multiple submitters ⚠
  • p.Glu1644_Arg1646del Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Glu1666Lys Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Glu225Gln Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu277Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu416Gly Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu45Asp Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Glu515Gly Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu598Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu810Asp Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Glu813Lys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Glu820Val Multiple submitters Inborn genetic diseases ⚠
  • p.Glu879Lys Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Gly1021Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1082Arg Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Gly1156Arg Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gly1221Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1404Ser Multiple submitters Inborn genetic diseases
  • p.Gly1457Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1470Arg Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gly15Val Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Gly1690Arg Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Gly170Val Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gly304Asp Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Gly309Ala Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Gly309Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly415Arg Multiple submitters inherited retinal dystrophy ⚠
  • p.Gly452Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly565Asp Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Gly676Arg Multiple submitters IFT172-related disorder ⚠
  • p.Gly985Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.His1010Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His1145Gln Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.His1180Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His1194Gln Multiple submitters Bardet-Biedl syndrome 20
  • p.His1285Gln Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.His1395Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.His227Tyr Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.His2Asn Multiple submitters inherited retinal dystrophy ⚠
  • p.His352Gln Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.His46Leu Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.His642Arg Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.His719Tyr Multiple submitters inherited retinal dystrophy ⚠
  • p.His733Pro Multiple submitters Inborn genetic diseases ⚠
  • p.His958Pro Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ile1345Thr Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ile148Val Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Ile167Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1698Thr Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ile465Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile479Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ile552Thr Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ile666Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile770Leu Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ile770Met Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ile770Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ile83Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ile878Val Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ile887Thr Multiple submitters IFT172-related disorder ⚠
  • p.Leu1211Trp Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Leu1260Val Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Leu1400Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1631Phe Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Leu1687Phe Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Leu387Arg Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Leu3Trp Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Leu473Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Leu493Arg Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Leu747Pro Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Leu818Phe Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Leu891_Ala893del Multiple submitters retinitis pigmentosa 71
  • p.Lys1270Gln Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Lys1271Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys141Glu Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Lys56Thr Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Lys80Thr Multiple submitters IFT172-related disorder ⚠
  • p.Lys885Glu Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Lys94Thr Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Lys959Glu Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Met1006Val Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Met1150Ile Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Met1150Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Met1488Val Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Met1592Ile Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Met1717Leu Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Met436_Asn437insLys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Met60Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Met627Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met627Val Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Met68Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met68Val Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Met700Ile Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Met839Leu Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Met947Val Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Met962Val Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Phe109Leu Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Phe1746Leu Multiple submitters inherited retinal dystrophy ⚠
  • p.Pro1000Ala Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Pro121Leu Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Pro1254_Ser1255del Multiple submitters retinitis pigmentosa 71
  • p.Pro1526Ala Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Pro1626_Phe1627insPro Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly
  • p.Pro1685Ser Multiple submitters retinitis pigmentosa 71
  • p.Pro250Ala Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Pro850Ala Multiple submitters Inborn genetic diseases
  • p.Ser1068Cys Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ser113Asn Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Ser1243Ile Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Ser1408= Multiple submitters
  • p.Ser1502Cys Multiple submitters inherited retinal dystrophy ⚠
  • p.Ser1678Asn Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Ser535Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1061Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr112= Multiple submitters IFT172-related disorder
  • p.Thr112Met Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Thr1451Ala Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Thr1533Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1543Ala Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Thr1623Ala Multiple submitters Bardet-Biedl syndrome 20
  • p.Thr207Ala Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Thr520Lys Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Thr559Ala Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Thr612Ile Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Thr617Ala Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Thr679Ala Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Thr679Ile Multiple submitters retinitis pigmentosa 71 ⚠
  • p.Thr803Ile Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Trp1648Cys Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Trp549Ser Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Trp746Gly Multiple submitters Bardet-Biedl syndrome 20 ⚠
  • p.Trp860Arg Multiple submitters short-rib thoracic dysplasia 10 with or without polydactyly ⚠
  • p.Tyr1388Cys Multiple submitters retinitis pigmentosa 71 ⚠