Sugi Variant

Sugi Variant/SRCAP

SRCAP — 2456 ClinVar variants

All ClinVar germline SRCAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 718 flagged for review →

43 Pathogenic · 10 Pathogenic/Likely pathogenic · 66 Likely pathogenic · 138 Conflicting · 35 Benign · 60 Benign/Likely benign · 712 Likely benign · 1392 Uncertain significance

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

⚑ Evidence disagreements 718

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 3

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

Predictors agree, ClinVar conflicts 67

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 628

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 628

Predictors split 18

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

All SRCAP variants

Pathogenic 43

Pathogenic/Likely pathogenic 10

  • p.Arg2329Ter Multiple submitters Floating-Harbor syndrome
  • p.Arg2435Ter Multiple submitters SRCAP-related disorder
  • p.Arg2718Ter Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gln2665Ter Multiple submitters Floating-Harbor syndrome
  • p.Pro1879fs Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Pro2459fs Multiple submitters Floating-Harbor syndrome
  • p.Ser2422fs Multiple submitters
  • p.Ser2576Ter Multiple submitters Floating-Harbor syndrome
  • p.Cys1993fs No assertion criteria neurodevelopmental disorder
  • p.Pro382fs No assertion criteria neurodevelopmental disorder

Likely pathogenic 66

  • c.1135-2A>C Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • c.1187_1228+67del Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • c.2630+1G>A Single submitter Inborn genetic diseases
  • c.6127+1G>A Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • c.848_856+17del Single submitter Inborn genetic diseases
  • p.Ala2409fs Single submitter Floating-Harbor syndrome
  • p.Ala2567fs Single submitter
  • p.Ala2880fs Single submitter
  • p.Arg2939Ter Single submitter
  • p.Arg3077Ter Single submitter Floating-Harbor syndrome
  • p.Asn2410fs Single submitter
  • p.Asp731fs Single submitter
  • p.Cys2519Ter Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gln1210Ter Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gln1247fs Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Glu180fs Single submitter
  • p.Glu2565Ter Single submitter
  • p.Glu3173Ter Single submitter
  • p.Gly2377fs Single submitter Floating-Harbor syndrome
  • p.Gly267fs Single submitter SRCAP-related disorder
  • p.Leu2127fs Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Leu2558fs Single submitter SRCAP-related disorder
  • p.Leu3113fs Single submitter neurodevelopmental disorder
  • p.Lys1845fs Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Lys2689Ter Single submitter
  • p.Met1663Val Single submitter ⚠
  • p.Met1980Ile Single submitter ⚠
  • p.Phe1925fs Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Phe797fs Single submitter epilepsy
  • p.Pro2413fs Single submitter Floating-Harbor syndrome
  • p.Pro2427fs Single submitter Inborn genetic diseases
  • p.Pro2455fs Single submitter Floating-Harbor syndrome
  • p.Pro2916fs Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Pro2974_Leu2975insTer Single submitter
  • p.Ser1278Ter Single submitter neurodevelopmental disorder
  • p.Ser1429fs Single submitter SRCAP-related disorder
  • p.Ser2568Phe Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Trp146Ter Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Tyr243Ter Single submitter SRCAP-related disorder
  • p.Tyr725Ter Single submitter
  • p.Val2395fs Single submitter
  • p.Val2646fs Single submitter Floating-Harbor syndrome
  • p.Val826fs Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • c.3893-2A>G No assertion criteria neurodevelopmental disorder
  • c.55-1G>A No assertion criteria neurodevelopmental disorder
  • p.Ala1330Val No assertion criteria ⚠
  • p.Arg2070Ter No assertion criteria neurodevelopmental disorder
  • p.Arg2297fs No assertion criteria neurodevelopmental disorder
  • p.Arg840Ter No assertion criteria neurodevelopmental disorder
  • p.Gln145fs No assertion criteria neurodevelopmental disorder
  • p.Gln3043fs No assertion criteria neurodevelopmental disorder
  • p.Gln537fs No assertion criteria neurodevelopmental disorder
  • p.Glu2434Ter No assertion criteria Moderate intellectual disability
  • p.Gly2043Arg No assertion criteria developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gly598fs No assertion criteria neurodevelopmental disorder
  • p.Leu1090fs No assertion criteria
  • p.Leu1401fs No assertion criteria neurodevelopmental disorder
  • p.Leu1642Ter No assertion criteria neurodevelopmental disorder
  • p.Lys2865fs No assertion criteria neurodevelopmental disorder
  • p.Pro1796fs No assertion criteria neurodevelopmental disorder
  • p.Pro1995fs No assertion criteria neurodevelopmental disorder
  • p.Ser1701fs No assertion criteria neurodevelopmental disorder
  • p.Ser2489Ter No assertion criteria Rare genetic intellectual disability
  • p.Thr1850fs No assertion criteria neurodevelopmental disorder
  • p.Val1550fs No assertion criteria neurodevelopmental disorder
  • p.Val1843fs No assertion criteria neurodevelopmental disorder

Conflicting classifications of pathogenicity 138

  • c.1135-2A>G Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • c.3893-10C>T Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • c.4159+7C>A Single submitter
  • c.633+13G>T Single submitter
  • c.6925-19C>G Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ala1017Val Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ala1361Val Single submitter Inborn genetic diseases ⚠
  • p.Ala1486Val Single submitter Inborn genetic diseases ⚠
  • p.Ala1591Val Single submitter Floating-Harbor syndrome ⚠
  • p.Ala1831Thr Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ala2589Thr Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ala2624Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala2774Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala2774Ser Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ala2850Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala485Val Single submitter Inborn genetic diseases ⚠
  • p.Ala883Gly Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg1098Pro Single submitter Inborn genetic diseases
  • p.Arg1098Trp Single submitter Floating-Harbor syndrome
  • p.Arg1840Trp Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg1854His Single submitter Inborn genetic diseases
  • p.Arg1871Gln Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg1903Gln Single submitter Inborn genetic diseases
  • p.Arg1903Trp Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg2002His Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg2017Gln Single submitter Floating-Harbor syndrome
  • p.Arg2159Gln Single submitter Floating-Harbor syndrome ⚠
  • p.Arg2314Cys Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg2737= Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg2753Trp Single submitter
  • p.Arg2767Gln Single submitter Inborn genetic diseases
  • p.Arg281= Single submitter Floating-Harbor syndrome
  • p.Arg2828His Single submitter Inborn genetic diseases
  • p.Arg3018Trp Single submitter Inborn genetic diseases
  • p.Arg3041Gln Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg3042Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg3156Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg3189Gln Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg319Cys Single submitter Floating-Harbor syndrome
  • p.Arg3226Cys Single submitter Inborn genetic diseases
  • p.Arg326Leu Single submitter Inborn genetic diseases
  • p.Arg389Cys Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg389His Single submitter Inborn genetic diseases ⚠
  • p.Arg438Gln Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg503Trp Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg858Cys Single submitter Inborn genetic diseases
  • p.Arg858His Single submitter Inborn genetic diseases
  • p.Arg940Gln Single submitter Floating-Harbor syndrome ⚠
  • p.Arg966Gln Single submitter Floating-Harbor syndrome ⚠
  • p.Asn2618Ser Single submitter
  • p.Asn473Asp Single submitter Inborn genetic diseases ⚠
  • p.Asp2893= Single submitter
  • p.Asp358Gly Single submitter Floating-Harbor syndrome ⚠
  • p.Asp498Val Single submitter
  • p.Asp81His Single submitter Inborn genetic diseases
  • p.Cys2429Tyr Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Gln2358= Single submitter
  • p.Gln2665Glu Single submitter Floating-Harbor syndrome
  • p.Gln537His Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Glu2192= Single submitter
  • p.Glu2679Lys Single submitter Inborn genetic diseases
  • p.Glu3166Val Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Glu515= Single submitter
  • p.Glu959= Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gly1080Cys Single submitter
  • p.Gly1246= Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gly1359Val Single submitter Inborn genetic diseases
  • p.Gly1937Ser Single submitter Floating-Harbor syndrome ⚠
  • p.Gly26= Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gly2834Arg Single submitter Inborn genetic diseases
  • p.Gly2844Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly3103Arg Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.His511Tyr Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ile1397Val Single submitter ⚠
  • p.Ile2064Met Single submitter Inborn genetic diseases ⚠
  • p.Ile2476Met Single submitter Inborn genetic diseases ⚠
  • p.Leu1226Val Single submitter Floating-Harbor syndrome ⚠
  • p.Leu1374Phe Single submitter Floating-Harbor syndrome ⚠
  • p.Leu1515Met Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Leu1768Pro Single submitter
  • p.Leu1780Val Single submitter ⚠
  • p.Leu1823= Single submitter
  • p.Leu964= Single submitter
  • p.Lys380Thr Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Lys664= Single submitter
  • p.Met2028Val Single submitter Inborn genetic diseases
  • p.Pro1162Ser Single submitter ⚠
  • p.Pro1408Ala Single submitter ⚠
  • p.Pro1418Arg Single submitter ⚠
  • p.Pro1575Ser Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro1647Leu Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro1673= Single submitter
  • p.Pro1673Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro1675Leu Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro1696Leu Single submitter ⚠
  • p.Pro1736Ala Single submitter ⚠
  • p.Pro1739Arg Single submitter
  • p.Pro1753Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro1870= Single submitter
  • p.Pro1946= Single submitter
  • p.Pro1946Ser Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2391= Single submitter
  • p.Pro2508Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro2515Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro2656= Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Pro2791Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro48Leu Single submitter autism spectrum disorder
  • p.Pro7Ser Single submitter Floating-Harbor syndrome ⚠
  • p.Pro915Ser Single submitter Inborn genetic diseases
  • p.Ser1452Leu Single submitter Floating-Harbor syndrome
  • p.Ser1844Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ser21Leu Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ser2416= Single submitter
  • p.Ser2575Thr Single submitter ⚠
  • p.Ser2802Phe Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ser2840Cys Single submitter multiple congenital anomalies/dysmorphic syndrome
  • p.Ser3211= Single submitter
  • p.Ser3222Gly Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ser493Asn Single submitter ⚠
  • p.Ser75Thr Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Thr1369Ala Single submitter ⚠
  • p.Thr1530Ala Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Thr1678Met Single submitter Inborn genetic diseases ⚠
  • p.Thr1690Ala Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Thr1727Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr1731Arg Single submitter Inborn genetic diseases
  • p.Thr2047Met Single submitter Inborn genetic diseases
  • p.Thr2378Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr2684Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr2819Ala Single submitter Floating-Harbor syndrome ⚠
  • p.Thr2988Ile Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Thr2997Ala Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Thr925Ile Single submitter Inborn genetic diseases
  • p.Val1085Ala Single submitter Inborn genetic diseases
  • p.Val1431Ile Single submitter Inborn genetic diseases ⚠
  • p.Val2460Ile Single submitter developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Val2993Ile Single submitter Inborn genetic diseases
  • p.Pro3115fs No assertion criteria neurodevelopmental disorder ⚠

Benign 35

Benign/Likely benign 60

  • c.1135-14C>T Multiple submitters Floating-Harbor syndrome
  • c.1228+14G>A Multiple submitters
  • c.1493-8C>A Multiple submitters Floating-Harbor syndrome
  • c.307-7T>C Multiple submitters Floating-Harbor syndrome
  • c.492+11C>T Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • c.633+9T>C Multiple submitters Floating-Harbor syndrome
  • c.6495-5C>G Multiple submitters Floating-Harbor syndrome
  • c.6495-8C>A Multiple submitters
  • c.6730-14A>G Multiple submitters
  • p.2992TVT[1] Multiple submitters
  • p.Ala1363Gly Multiple submitters Floating-Harbor syndrome
  • p.Ala1801= Multiple submitters Floating-Harbor syndrome
  • p.Arg1178Cys Multiple submitters Inborn genetic diseases
  • p.Arg1957Gln Multiple submitters
  • p.Arg2421= Multiple submitters
  • p.Arg2828Cys Multiple submitters Floating-Harbor syndrome
  • p.Arg2965Trp Multiple submitters Floating-Harbor syndrome
  • p.Arg3077= Multiple submitters Floating-Harbor syndrome
  • p.Arg898= Multiple submitters
  • p.Gln388Glu Multiple submitters
  • p.Glu1902Gly Multiple submitters Floating-Harbor syndrome
  • p.Glu408Asp Multiple submitters Inborn genetic diseases
  • p.Glu426= Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gly2920= Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gly44= Multiple submitters
  • p.Gly920= Multiple submitters
  • p.Leu1171= Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Leu1555= Multiple submitters
  • p.Leu2593= Multiple submitters Floating-Harbor syndrome
  • p.Leu3038= Multiple submitters
  • p.Lys2386Arg Multiple submitters
  • p.Lys863= Multiple submitters
  • p.Phe1867del Multiple submitters
  • p.Pro1130Ser Multiple submitters
  • p.Pro1233= Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Pro1521= Multiple submitters
  • p.Pro1535Ala Multiple submitters
  • p.Pro1669Leu Multiple submitters
  • p.Pro1877= Multiple submitters
  • p.Pro1996Ser Multiple submitters Inborn genetic diseases
  • p.Pro2818= Multiple submitters Floating-Harbor syndrome
  • p.Pro2821= Multiple submitters
  • p.Ser1033Pro Multiple submitters Floating-Harbor syndrome
  • p.Ser1290Gly Multiple submitters
  • p.Ser1532= Multiple submitters Floating-Harbor syndrome
  • p.Ser1774= Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ser1844Cys Multiple submitters Inborn genetic diseases
  • p.Ser2524Cys Multiple submitters
  • p.Ser2802= Multiple submitters Floating-Harbor syndrome
  • p.Ser2955= Multiple submitters Floating-Harbor syndrome
  • p.Ser2962= Multiple submitters
  • p.Ser3148= Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ser520Asn Multiple submitters Inborn genetic diseases
  • p.Thr1101Lys Multiple submitters Floating-Harbor syndrome
  • p.Thr2784Pro Multiple submitters
  • p.Thr2836= Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Thr2994= Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Thr776= Multiple submitters Floating-Harbor syndrome
  • p.Val1431= Multiple submitters Floating-Harbor syndrome
  • p.Val2222Met Multiple submitters Floating-Harbor syndrome

Likely benign 712

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

Uncertain significance 1392

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

  • c.1815+5C>T Multiple submitters
  • c.2130+6A>T Multiple submitters Floating-Harbor syndrome
  • c.492+3A>G Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ala1152Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1161Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1451Thr Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ala1461Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ala1570Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1584Gly Multiple submitters Inborn genetic diseases
  • p.Ala1721Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ala1802Thr Multiple submitters Floating-Harbor syndrome ⚠
  • p.Ala1985Thr Multiple submitters Inborn genetic diseases
  • p.Ala2279Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ala2404Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ala2453Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ala2470Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ala2699Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2945Val Multiple submitters Inborn genetic diseases
  • p.Ala39Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala534Val Multiple submitters ⚠
  • p.Ala79Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala926Ser Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg1007Gln Multiple submitters Inborn genetic diseases
  • p.Arg1065Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1065Trp Multiple submitters Inborn genetic diseases
  • p.Arg1115Cys Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg1196Cys Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg1196His Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg1224His Multiple submitters Inborn genetic diseases
  • p.Arg1232Cys Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg1332Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1345Cys Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg1345His Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg1352Gln Multiple submitters Floating-Harbor syndrome ⚠
  • p.Arg1352Trp Multiple submitters Inborn genetic diseases
  • p.Arg159Gln Multiple submitters Inborn genetic diseases
  • p.Arg163Trp Multiple submitters ⚠
  • p.Arg1840Gln Multiple submitters Inborn genetic diseases
  • p.Arg1854Leu Multiple submitters
  • p.Arg1895Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2002Ser Multiple submitters Inborn genetic diseases
  • p.Arg2017Trp Multiple submitters Inborn genetic diseases
  • p.Arg203Lys Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg2053Trp Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg2061Gln Multiple submitters ⚠
  • p.Arg2170Gln Multiple submitters
  • p.Arg2297Trp Multiple submitters
  • p.Arg2314His Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg2329Leu Multiple submitters Inborn genetic diseases
  • p.Arg2380Gln Multiple submitters
  • p.Arg2381His Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg2403Trp Multiple submitters Inborn genetic diseases
  • p.Arg2718Gln Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg2721Gln Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg2722His Multiple submitters Inborn genetic diseases
  • p.Arg2737Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2737Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2737Trp Multiple submitters
  • p.Arg2765Trp Multiple submitters Floating-Harbor syndrome
  • p.Arg2766Gln Multiple submitters
  • p.Arg2771Gln Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg2771Trp Multiple submitters Inborn genetic diseases
  • p.Arg2794Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg281His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2829Cys Multiple submitters Inborn genetic diseases
  • p.Arg2868Ser Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg2939Gln Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg2965Gln Multiple submitters Inborn genetic diseases
  • p.Arg3018Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg3027His Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg3065Cys Multiple submitters Floating-Harbor syndrome
  • p.Arg3079Gln Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg3121Gln Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg3123Cys Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg3156His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg3188His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg318Gly Multiple submitters Inborn genetic diseases
  • p.Arg3190Cys Multiple submitters Inborn genetic diseases
  • p.Arg3194Cys Multiple submitters Inborn genetic diseases
  • p.Arg3226His Multiple submitters Inborn genetic diseases
  • p.Arg3226Leu Multiple submitters Inborn genetic diseases
  • p.Arg325Cys Multiple submitters
  • p.Arg326Cys Multiple submitters Inborn genetic diseases
  • p.Arg362Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg503Gln Multiple submitters ⚠
  • p.Arg503Gly Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg709Trp Multiple submitters Floating-Harbor syndrome ⚠
  • p.Arg741Cys Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg741His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg758Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg801His Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Arg864Cys Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg945Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg954Cys Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Arg968Cys Multiple submitters Inborn genetic diseases
  • p.Arg971His Multiple submitters ⚠
  • p.Arg972Pro Multiple submitters Inborn genetic diseases
  • p.Arg986Trp Multiple submitters Floating-Harbor syndrome
  • p.Asn1078Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1419Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn252Ile Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Asn2542Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn2890Ser Multiple submitters Inborn genetic diseases
  • p.Asn28Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn84Asp Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Asp1174Asn Multiple submitters Inborn genetic diseases
  • p.Asp22Gly Multiple submitters
  • p.Asp2959Tyr Multiple submitters Inborn genetic diseases
  • p.Asp3028Gly Multiple submitters Inborn genetic diseases
  • p.Asp3095Gly Multiple submitters
  • p.Asp548Gly Multiple submitters ⚠
  • p.Asp81Gly Multiple submitters Floating-Harbor syndrome
  • p.Asp934Val Multiple submitters
  • p.Gln1084Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1315Arg Multiple submitters Inborn genetic diseases
  • p.Gln2770del Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gln3043His Multiple submitters Monogenic short statue ⚠
  • p.Gln3158Ter Multiple submitters
  • p.Gln3202His Multiple submitters SRCAP-related disorder
  • p.Gln450His Multiple submitters Inborn genetic diseases ⚠
  • p.Glu187Gly Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Glu1890Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Glu1902Gln Multiple submitters
  • p.Glu2352Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu2666Gly Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Glu2963Lys Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Glu3034Lys Multiple submitters Inborn genetic diseases
  • p.Glu3182del Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Glu372Asp Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Glu407Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Glu414Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1057Arg Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Gly1136Ala Multiple submitters
  • p.Gly1391Arg Multiple submitters Inborn genetic diseases
  • p.Gly1761Ala Multiple submitters Inborn genetic diseases
  • p.Gly2043Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly2363Arg Multiple submitters ⚠
  • p.Gly26Asp Multiple submitters
  • p.Gly3046Asp Multiple submitters Inborn genetic diseases
  • p.Gly3075Arg Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gly3075Glu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Gly3102Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly3146Arg Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Gly368Ala Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Gly567Ser Multiple submitters Floating-Harbor syndrome
  • p.Gly574Arg Multiple submitters Inborn genetic diseases
  • p.Gly665Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His1379Tyr Multiple submitters Inborn genetic diseases
  • p.His1991Arg Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.His2971Pro Multiple submitters Inborn genetic diseases ⚠
  • p.His93Arg Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ile1061Thr Multiple submitters ⚠
  • p.Ile106Val Multiple submitters Floating-Harbor syndrome
  • p.Ile1977Phe Multiple submitters Inborn genetic diseases
  • p.Ile2024Val Multiple submitters Inborn genetic diseases
  • p.Ile2805Thr Multiple submitters Floating-Harbor syndrome ⚠
  • p.Ile2851Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile2954Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile949Thr Multiple submitters Inborn genetic diseases
  • p.Ile949Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Leu1071Phe Multiple submitters Floating-Harbor syndrome ⚠
  • p.Leu1071Pro Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Leu1093Arg Multiple submitters Inborn genetic diseases
  • p.Leu1234Pro Multiple submitters Floating-Harbor syndrome
  • p.Leu1681Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1740Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu2101Ser Multiple submitters Inborn genetic diseases
  • p.Leu2116Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Leu2527Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu2633Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Leu2652Arg Multiple submitters Monogenic short statue
  • p.Leu2664Phe Multiple submitters Inborn genetic diseases
  • p.Leu266Pro Multiple submitters Floating-Harbor syndrome
  • p.Leu2833Pro Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Leu3066Met Multiple submitters Inborn genetic diseases
  • p.Leu3131Val Multiple submitters Inborn genetic diseases
  • p.Leu785Val Multiple submitters Inborn genetic diseases ⚠
  • p.Lys179Arg Multiple submitters Inborn genetic diseases
  • p.Met1175Thr Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Met1415Leu Multiple submitters Floating-Harbor syndrome ⚠
  • p.Met1415Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Met2144Val Multiple submitters ⚠
  • p.Met2185Ile Multiple submitters Inborn genetic diseases
  • p.Met2189Ile Multiple submitters Inborn genetic diseases
  • p.Met2212Thr Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Met943Val Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Met997Thr Multiple submitters Floating-Harbor syndrome
  • p.Phe1209Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1000Arg Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro1023Ala Multiple submitters Floating-Harbor syndrome ⚠
  • p.Pro1083Arg Multiple submitters ⚠
  • p.Pro1233Leu Multiple submitters
  • p.Pro131Ala Multiple submitters Floating-Harbor syndrome ⚠
  • p.Pro1334Gln Multiple submitters Inborn genetic diseases
  • p.Pro1334Leu Multiple submitters Inborn genetic diseases
  • p.Pro1448Ser Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro1462Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1491Ser Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Pro1500Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1521Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1600Ala Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro1604Ser Multiple submitters ⚠
  • p.Pro1608Ser Multiple submitters ⚠
  • p.Pro1649Ala Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro1651Ser Multiple submitters ⚠
  • p.Pro1665Leu Multiple submitters Inborn genetic diseases
  • p.Pro1667Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1728Ala Multiple submitters SRCAP-related disorder ⚠
  • p.Pro1739Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro1750Ser Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro1753Arg Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro1753Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1759Ala Multiple submitters Inborn genetic diseases
  • p.Pro1834His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1857Ser Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Pro1938Arg Multiple submitters Floating-Harbor syndrome
  • p.Pro1982Ser Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Pro2391Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2451Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2451Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2461Ala Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2487Ala Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2488del Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Pro2493Leu Multiple submitters Inborn genetic diseases
  • p.Pro2503Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2507Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2531Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2531Leu Multiple submitters Floating-Harbor syndrome ⚠
  • p.Pro2625Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro264Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Pro2667Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2687Ser Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2719Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro278Thr Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2820Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2821Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2841Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Pro2854Ser Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Pro2881Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2881Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2898Arg Multiple submitters Floating-Harbor syndrome ⚠
  • p.Pro2933Leu Multiple submitters Floating-Harbor syndrome
  • p.Pro2943Ala Multiple submitters Inborn genetic diseases
  • p.Pro2974Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2979Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro3130Gln Multiple submitters Inborn genetic diseases
  • p.Pro3130Leu Multiple submitters Inborn genetic diseases
  • p.Pro3162Ala Multiple submitters Floating-Harbor syndrome
  • p.Pro965Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro984Leu Multiple submitters ⚠
  • p.Ser1124Pro Multiple submitters Inborn genetic diseases
  • p.Ser1252Asn Multiple submitters
  • p.Ser1386Arg Multiple submitters
  • p.Ser1516Ala Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ser1717Leu Multiple submitters Floating-Harbor syndrome
  • p.Ser1774Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1776Pro Multiple submitters
  • p.Ser1826Leu Multiple submitters Floating-Harbor syndrome ⚠
  • p.Ser2012Pro Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ser2537Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser2576del Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ser2674Leu Multiple submitters ⚠
  • p.Ser2710Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ser2715Leu Multiple submitters Floating-Harbor syndrome ⚠
  • p.Ser2775Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser2869Phe Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Ser2882Leu Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Ser3016Leu Multiple submitters Inborn genetic diseases
  • p.Ser3035Arg Multiple submitters
  • p.Ser3050Arg Multiple submitters Floating-Harbor syndrome
  • p.Ser348Phe Multiple submitters ⚠
  • p.Ser493Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser518Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser55Phe Multiple submitters Inborn genetic diseases
  • p.Ter3231Ser Multiple submitters
  • p.Thr1132Ile Multiple submitters Inborn genetic diseases
  • p.Thr1208Asn Multiple submitters Inborn genetic diseases
  • p.Thr1301Ile Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Thr1540Ala Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Thr1540Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1678Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1745Met Multiple submitters SRCAP-related disorder ⚠
  • p.Thr1787Ala Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Thr1836Ala Multiple submitters Inborn genetic diseases
  • p.Thr1950_Tyr1951insIle Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
  • p.Thr2406Asn Multiple submitters Floating-Harbor syndrome ⚠
  • p.Thr2631Ser Multiple submitters ⚠
  • p.Thr2673Ile Multiple submitters
  • p.Thr2703Ile Multiple submitters Inborn genetic diseases
  • p.Thr2884Ile Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Thr2889Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr2976Asn Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities ⚠
  • p.Thr2992Ala Multiple submitters Floating-Harbor syndrome ⚠
  • p.Thr3114Ser Multiple submitters Inborn genetic diseases
  • p.Thr3230Met Multiple submitters
  • p.Thr572del Multiple submitters Inborn genetic diseases
  • p.Thr600Met Multiple submitters ⚠
  • p.Thr876Ser Multiple submitters Inborn genetic diseases
  • p.Thr881Ile Multiple submitters Inborn genetic diseases
  • p.Thr884Ile Multiple submitters developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities