Sugi Variant

Sugi Variant/AFF4

AFF4 — 734 ClinVar variants

All ClinVar germline AFF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 409 flagged for review →

1 Pathogenic · 3 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 23 Conflicting · 47 Benign · 7 Benign/Likely benign · 231 Likely benign · 420 Uncertain significance

Full AFF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 409

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 agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 248

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 248

Predictors split 145

The independent predictors disagree with each other — read with care.

All AFF4 variants

Pathogenic 1

  • p.Thr254Ala No assertion criteria cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠

Pathogenic/Likely pathogenic 3

  • p.Arg258Trp Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro253Leu Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr254Ser Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠

Likely pathogenic 2

  • p.Met260Val Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Tyr256Ser Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠

Conflicting classifications of pathogenicity 23

  • p.Ala816Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg10His Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg177Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg196Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg258Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg622Gln Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asn158Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn282His Single submitter Inborn genetic diseases ⚠
  • p.Asn356Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn612Ser Single submitter Inborn genetic diseases ⚠
  • p.Glu25Lys Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Gly829Arg Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ile536Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys1015Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys763Gln Single submitter Inborn genetic diseases ⚠
  • p.Met402Val Single submitter Inborn genetic diseases ⚠
  • p.Pro678Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro704Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro736Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser703Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ser886Thr Single submitter Inborn genetic diseases ⚠
  • p.Thr784Met Single submitter Inborn genetic diseases ⚠
  • p.Thr999Ala Single submitter Inborn genetic diseases ⚠

Benign 47

  • c.1051-55A>G Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1227-69dup Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1227-99del Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2397-37T>C Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3143+20G>A Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3144-52T>A Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.963+11T>A Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.963+12dup Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gln185Leu Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro669= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr1107Ala Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1051-13T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1051-219T>C Single submitter
  • c.1087+12_1087+15del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1087+121G>C Single submitter
  • c.1087+142_1087+183del Single submitter
  • c.1134-9del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1226+94T>C Single submitter
  • c.1227-11A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.123+20A>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.124-30A>T Single submitter
  • c.124-5dup Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.124-84G>A Single submitter
  • c.1389+12G>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2308-13A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2308-173C>T Single submitter
  • c.2397-14G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2637+179T>C Single submitter
  • c.3100-158AC[11] Single submitter
  • c.3100-158AC[12] Single submitter
  • c.3100-158AC[13] Single submitter
  • c.3144-132C>T Single submitter
  • c.3364+245G>T Single submitter
  • c.3364+82T>C Single submitter
  • c.3365-189G>T Single submitter
  • c.918+11C>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.919-7T>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.-4-146A>G Single submitter
  • p.Asp261= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Leu270= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro259= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser656= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser843= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr1107= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr136Pro Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr535= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Val1000= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome

Benign/Likely benign 7

  • c.1051-17A>C Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Glu273= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gly510= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Lys964= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro113= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro815= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser277Thr Multiple submitters Inborn genetic diseases ⚠

Likely benign 231

  • c.124-27ATTTT[3] Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2637+32A>G Multiple submitters
  • c.3006-20C>T Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Arg225Gly Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asn158His Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gln208= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gly1072= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gly143Ser Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Met379Val Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro529Leu Multiple submitters Inborn genetic diseases
  • p.Pro890Leu Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser1007= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser118= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser174Cys Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Thr296= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr867= Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Val590Ile Multiple submitters Inborn genetic diseases
  • c.1050+18A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1051-17A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1051-17A>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1051-5_1051-3del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1051-5C>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1087+10del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1087+19_1087+22del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1087+7_1087+10del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1088-13C>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1133+20A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1133+9A>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1134-15G>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1134-16T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1188+11T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1226+10C>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1226+13T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1226+17T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1226+18T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1227-15T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.123+18G>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.124-13T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.124-18T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.124-20T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1389+13C>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1389+14G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1390-17A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1390-19A>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2307+13T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2307+17T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2307+18del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2307+18G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2308-19G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2308-20G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2308-6A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2397-18A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2637+20G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2637+20G>C Single submitter
  • c.2637+8G>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2638-16A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2638-17del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2638-4_2638del Single submitter autism spectrum disorder
  • c.2733-7C>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2733-7C>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2733-9G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2796+14C>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2796+19del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2796+9A>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2797-7T>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2934-19_2934-11del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2934-20_2934-19dup Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2934-5A>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3005+17C>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3006-19G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3099+8T>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3143+14T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3144-17C>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3364+10T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3364+19A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3364+7A>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3364+7A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3365-13T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3365-17T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3365-17T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.918+19G>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.919-12T>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.919-4C>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.963+10_963+11del Single submitter
  • c.963+10_963+11inv Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.963+12A>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.963+15A>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.963+20T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.963+20T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.963+9_963+10insAAA Single submitter
  • c.964-18G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ala1138= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ala27= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ala575Ser Single submitter Inborn genetic diseases
  • p.Arg507= Single submitter
  • p.Arg725Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg750= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Arg935= Single submitter
  • p.Asn1137= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Asn145= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Asn612= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Asn672= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Asp215= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Asp306= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Asp60= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Cys1005= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gln1087= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gln1150= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gln303= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gln354= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gln920= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Glu452= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Glu576= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Glu707= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Glu758= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gly24= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.His1031= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.His151= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ile496= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ile643Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Leu1001= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Leu1028= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Leu1104= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Leu1144= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Leu34= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Leu841= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Lys1018= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Lys1160= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Lys166= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Lys211= Single submitter
  • p.Lys385Arg Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Lys572= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Lys631= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Lys856Arg Single submitter Inborn genetic diseases ⚠
  • p.Phe347= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Phe688= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Phe908= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Phe95= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro329= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro38= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro403= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro462= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro467= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro467Arg Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro488= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro736= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro824Ser Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro966= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser1043= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser1058= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser1070= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser1074= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser1082= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser129= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser137= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser141= Single submitter
  • p.Ser155= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser230= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser241= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser368= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser376= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser428= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser519= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser526= Single submitter
  • p.Ser540= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser608= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser634= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser694= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser821= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser854Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser858Arg Single submitter coloboma ⚠
  • p.Ser872= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser887= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ser971= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr1027= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr254= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr332= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr518= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr749= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Thr826= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Tyr1036= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Tyr1069= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Tyr156= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Tyr365= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Tyr59= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Val676= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Val907= Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1050+3A>G No assertion criteria AFF4-related disorder
  • c.1088-7G>C No assertion criteria AFF4-related disorder
  • c.1133+8T>G No assertion criteria AFF4-related disorder
  • c.1226+7A>G No assertion criteria AFF4-related disorder
  • c.1227-10T>C No assertion criteria AFF4-related disorder
  • c.1389+9G>C No assertion criteria AFF4-related disorder
  • c.2308-4C>G No assertion criteria AFF4-related disorder
  • c.2796+8_2796+11del No assertion criteria AFF4-related disorder
  • c.3006-9A>T No assertion criteria AFF4-related disorder
  • c.919-4C>T No assertion criteria AFF4-related disorder
  • c.963+10T>A No assertion criteria AFF4-related disorder
  • c.*10A>G No assertion criteria AFF4-related disorder
  • p.Ala489= No assertion criteria AFF4-related disorder
  • p.Ala604= No assertion criteria AFF4-related disorder
  • p.Arg425= No assertion criteria AFF4-related disorder
  • p.Asn7= No assertion criteria AFF4-related disorder
  • p.Asn959= No assertion criteria AFF4-related disorder
  • p.Asp391= No assertion criteria AFF4-related disorder
  • p.Gln23= No assertion criteria AFF4-related disorder
  • p.Gln278= No assertion criteria AFF4-related disorder
  • p.Glu1126= No assertion criteria AFF4-related disorder
  • p.Glu419= No assertion criteria AFF4-related disorder
  • p.Gly311= No assertion criteria AFF4-related disorder
  • p.Ile1089= No assertion criteria AFF4-related disorder
  • p.Leu298= No assertion criteria AFF4-related disorder
  • p.Leu331= No assertion criteria AFF4-related disorder
  • p.Lys905= No assertion criteria AFF4-related disorder
  • p.Lys924= No assertion criteria AFF4-related disorder
  • p.Lys982= No assertion criteria AFF4-related disorder
  • p.Pro456= No assertion criteria AFF4-related disorder
  • p.Pro597= No assertion criteria AFF4-related disorder
  • p.Pro695= No assertion criteria AFF4-related disorder
  • p.Pro818= No assertion criteria AFF4-related disorder
  • p.Ser1079= No assertion criteria AFF4-related disorder
  • p.Ser1101= No assertion criteria AFF4-related disorder
  • p.Ser178= No assertion criteria AFF4-related disorder
  • p.Ser491= No assertion criteria AFF4-related disorder
  • p.Ser636= No assertion criteria AFF4-related disorder
  • p.Ser965= No assertion criteria AFF4-related disorder
  • p.Thr1100= No assertion criteria AFF4-related disorder
  • p.Thr665= No assertion criteria AFF4-related disorder
  • p.Thr784= No assertion criteria AFF4-related disorder
  • p.Thr973= No assertion criteria AFF4-related disorder
  • p.Val947= No assertion criteria AFF4-related disorder

Uncertain significance 420

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

  • c.1133+3A>G Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Ala114Thr Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala114Val Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala27Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala489Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala570Ser Multiple submitters AFF4-related disorder ⚠
  • p.Ala882Pro Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg153His Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg225Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg225His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg3Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg531Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg689Trp Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg711Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg775Pro Multiple submitters dilated cardiomyopathy ⚠
  • p.Arg831Trp Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg902Trp Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asn423_Ser424insTyr Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Asn672Ser Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asn762Ser Multiple submitters AFF4-related disorder ⚠
  • p.Asp152Gly Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp60Asn Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Gln1120Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln97Arg Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu172_His173insGln Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Glu657Asp Multiple submitters AFF4-related disorder ⚠
  • p.Glu682Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu740Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly530Val Multiple submitters Inborn genetic diseases ⚠
  • p.His194Asn Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.His416Arg Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ile613Met Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Leu295Val Multiple submitters Inborn genetic diseases ⚠
  • p.Lys504Asn Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys747Arg Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys754Glu Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys759Asn Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys787Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Met1092Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met696Val Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro1086Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro407Leu Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro413Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro521Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro661Arg Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro669Ser Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro708Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro80Arg Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ser106Arg Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ser1081Cys Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ser146Thr Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ser230Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser277Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Ser440Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser459Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser49Pro Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ser804Asn Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ser839Cys Multiple submitters AFF4-related disorder ⚠
  • p.Thr324Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr332Met Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Thr524Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr624Ala Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Thr749Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Thr867Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr1036Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr156Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val1057Ala Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Val486Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Val676Gly Multiple submitters cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Val907Ile Multiple submitters AFF4-related disorder ⚠
  • c.1050+1_1050+5del Single submitter
  • c.1051_1053del Single submitter
  • c.1088-20C>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1226+12T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1226+17_1226+21del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.1226+3G>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.123+3A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.124-3T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2396+4C>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2396+5G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2397-19C>T Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2637+4A>G Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.2796+1G>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.3005+2T>C Single submitter
  • c.3099+2T>C Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.918+1G>A Single submitter
  • c.964-5T>A Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • c.-1C>T Single submitter
  • p.Ala1073Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala1076Phe Single submitter
  • p.Ala1076Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala1159Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala186Gly Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala186Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala255Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala460Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala527Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala551Thr Single submitter AFF4-related disorder ⚠
  • p.Ala570Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala593Ser Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala625Ser Single submitter ⚠
  • p.Ala806Glu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala882Ser Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala882Val Single submitter ⚠
  • p.Ala893Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ala939= Single submitter
  • p.Arg1004Ter Single submitter
  • p.Arg10Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1156Cys Single submitter ⚠
  • p.Arg123Gln Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg123Trp Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg135Gln Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg14Gln Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg14Trp Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg153Cys Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg164Gln Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg164Trp Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg177His Single submitter Inborn genetic diseases ⚠
  • p.Arg177Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg209His Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg209Ser Single submitter AFF4-related disorder ⚠
  • p.Arg214Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg364Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg507His Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Arg507Pro Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg531Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg544Cys Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg544His Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg579Cys Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg579Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg622Ter Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Arg673Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg725Gly Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Arg725Lys Single submitter AFF4-related disorder ⚠
  • p.Arg775Ter Single submitter
  • p.Arg902Gln Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asn1038del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Asn1102Ser Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asn191fs Single submitter
  • p.Asn372Asp Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asn372His Single submitter Inborn genetic diseases ⚠
  • p.Asn454Asp Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asn476Asp Single submitter ⚠
  • p.Asn612Ile Single submitter ⚠
  • p.Asn721Ser Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asn788His Single submitter ⚠
  • p.Asn797Asp Single submitter ⚠
  • p.Asn7His Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp1143Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp152Asn Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp221fs Single submitter
  • p.Asp312Gly Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp391Asn Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp422Gly Single submitter AFF4-related disorder ⚠
  • p.Asp422Tyr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp426Gly Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp427Asn Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp517Glu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp591Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp60Glu Single submitter ⚠
  • p.Asp685Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp710Asn Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Asp934Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Cys315Ser Single submitter ⚠
  • p.Gln1115Glu Single submitter ⚠
  • p.Gln1157Ter Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Gln149_Gly160del Single submitter
  • p.Gln149Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln149Lys Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Gln303Pro Single submitter ⚠
  • p.Gln354His Single submitter ⚠
  • p.Gln537Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln552Arg Single submitter ⚠
  • p.Gln558Pro Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Gln566Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Gln753Glu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Gln803Pro Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Gln864Glu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu25Gln Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu286Val Single submitter Inborn genetic diseases ⚠
  • p.Glu341Asp Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu463Lys Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu505Asp Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu523Gly Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu576Val Single submitter Inborn genetic diseases ⚠
  • p.Glu616Asp Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu616Gly Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu697Gly Single submitter ⚠
  • p.Glu733Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu740Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu746Gln Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu758Lys Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Glu808Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu827Gly Single submitter Cornelia de Lange syndrome 6 ⚠
  • p.Gly101Val Single submitter Inborn genetic diseases ⚠
  • p.Gly139Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly167Val Single submitter Inborn genetic diseases ⚠
  • p.Gly24Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Gly281Asp Single submitter ⚠
  • p.Gly358Val Single submitter ⚠
  • p.Gly394Glu Single submitter ⚠
  • p.Gly408Arg Single submitter ⚠
  • p.Gly512Arg Single submitter ⚠
  • p.Gly520Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Gly539Arg Single submitter ⚠
  • p.Gly545Glu Single submitter ⚠
  • p.Gly817Glu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Gly869Glu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.His103Gln Single submitter Inborn genetic diseases ⚠
  • p.His103Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.His233Arg Single submitter Inborn genetic diseases ⚠
  • p.His233Tyr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.His274Tyr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.His294fs Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.His294Tyr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.His374Gln Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.His431= Single submitter
  • p.His748Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.His768Arg Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.His828Tyr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ile334Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ile584Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile613Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ile613Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ile66Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ile715Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ile77Phe Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ile950Thr Single submitter ⚠
  • p.Leu1152Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu331Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Leu659Phe Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Leu659Pro Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Leu702Pro Single submitter ⚠
  • p.Leu714Phe Single submitter ⚠
  • p.Leu74Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu841Phe Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Leu9fs Single submitter
  • p.Lys1118Arg Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys165Gln Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys350Glu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys381Thr Single submitter ⚠
  • p.Lys522Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys583Asn Single submitter ⚠
  • p.Lys602Asn Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys615del Single submitter
  • p.Lys667Glu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys741Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys742Glu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys787Arg Single submitter ⚠
  • p.Lys832Glu Single submitter ⚠
  • p.Lys849Asn Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys865Asn Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Lys866del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Lys866Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys905Glu Single submitter Inborn genetic diseases ⚠
  • p.Met1131Thr Single submitter Inborn genetic diseases ⚠
  • p.Met249Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Met249Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Met260Thr Single submitter Inborn genetic diseases ⚠
  • p.Met266Val Single submitter Inborn genetic diseases ⚠
  • p.Met284Val Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Met55Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Met596Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe1014Leu Single submitter ⚠
  • p.Phe1103Ile Single submitter ⚠
  • p.Phe1136Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe28Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Phe347Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Phe967fs Single submitter
  • p.Pro1044Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro1056Ala Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro110Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro216Arg Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro223Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro227His Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro29Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro30His Single submitter Inborn genetic diseases ⚠
  • p.Pro330Arg Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro342Leu Single submitter ⚠
  • p.Pro346Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro403Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro466Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro578Ala Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro589His Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro611Leu Single submitter AFF4-related disorder ⚠
  • p.Pro660His Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro675del Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
  • p.Pro708Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro730Arg Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro745Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro745Ser Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro782Ser Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro794Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro820Arg Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro83Thr Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro883Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro901Leu Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Pro966Ser Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠
  • p.Ser1035Tyr Single submitter ⚠
  • p.Ser1039Phe Single submitter cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ⚠