Sugi Variant

Sugi Variant/PCNT

PCNT — 3895 ClinVar variants

All ClinVar germline PCNT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1219 flagged for review →

207 Pathogenic · 27 Pathogenic/Likely pathogenic · 118 Likely pathogenic · 240 Conflicting · 225 Benign · 67 Benign/Likely benign · 1687 Likely benign · 1324 Uncertain significance

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

⚑ Evidence disagreements 1219

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 118

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

Predictors lean, ClinVar uncertain 1049

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 1049

Predictors split 52

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

All PCNT variants

Pathogenic 207

Pathogenic/Likely pathogenic 27

  • c.1032+1G>A Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg1730Ter Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg1923Ter Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg3236Ter Multiple submitters PCNT-related disorder
  • p.Arg792Ter Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Cys2614_Glu2615delinsTer Multiple submitters
  • p.Gln1508Ter Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln1998Ter Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln2069Ter Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu1674Ter Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu3290fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu998fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Gly1667fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.His1288fs Multiple submitters Inborn genetic diseases
  • p.His203fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.His2484fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Leu1091fs Multiple submitters PCNT-related disorder
  • p.Leu1200fs Multiple submitters Inborn genetic diseases
  • p.Leu1910fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Lys1799Ter Multiple submitters
  • p.Phe133fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Pro3251fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser1142fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser2894fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser3027fs Multiple submitters
  • p.Val2138fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Val3179fs Multiple submitters microcephalic osteodysplastic primordial dwarfism type II

Likely pathogenic 118

  • c.1680-1G>C Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.2155-21_2186del Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.3313-2A>C Multiple submitters PCNT-related disorder
  • c.5995-2A>C Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.7024+1G>A Multiple submitters PCNT-related disorder
  • c.7024+1G>C Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.7691-1G>A Multiple submitters PCNT-related disorder
  • c.8065-1G>C Multiple submitters PCNT-related disorder
  • c.9624-2A>G Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln1689Ter Multiple submitters PCNT-related disorder
  • p.Gln3239Ter Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.1679+1G>A Single submitter
  • c.1958_2154+31del Single submitter
  • c.2154+1G>A Single submitter PCNT-related disorder
  • c.2609+2T>G Single submitter
  • c.267+1del Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.267+2T>C Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.3165+1G>A Single submitter
  • c.3166-2A>C Single submitter
  • c.3295_3312+14del Single submitter
  • c.3465-1G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.3608-2A>G Single submitter
  • c.3642_3840+152del Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.3837_3841-542del Single submitter
  • c.4216+1G>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4448_4791+1del Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4585-2A>G Single submitter
  • c.4585-2A>T Single submitter
  • c.4791+1G>A Single submitter
  • c.4962+1G>C Single submitter
  • c.6145_6150+54del Single submitter
  • c.6151-1G>T Single submitter
  • c.639+1G>A Single submitter
  • c.639+2T>C Single submitter
  • c.640-1G>A Single submitter
  • c.(6921+1_6922-1 Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.6922-1G>A Single submitter
  • c.6922-2A>G Single submitter PCNT-related disorder
  • c.721-1G>A Single submitter
  • c.7321-1G>A Single submitter
  • c.7494+1G>A Single submitter
  • c.7690+1G>T Single submitter
  • c.7690+2_7690+3del Single submitter
  • c.7913+1G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.8064+1G>A Single submitter
  • c.8996+2T>C Single submitter
  • c.8997-1G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.9099+1G>A Single submitter
  • c.9274-2A>G Single submitter
  • c.9700+2T>C Single submitter
  • c.9701-1G>A Single submitter
  • c.9701-2A>G Single submitter
  • c.9701-2A>T Single submitter
  • p.Ala2873fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg1566fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg2475Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Asp1765fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Asp2310fs Single submitter PCNT-related disorder
  • p.Cys64fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln1014Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln1159Ter Single submitter PCNT-related disorder
  • p.Gln1286Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln1310Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln1373Ter Single submitter
  • p.Gln1456Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln1732Ter Single submitter PCNT-related disorder
  • p.Gln1815Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln181Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln2376fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln2792Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln2935Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln3297Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln453Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln938fs Single submitter
  • p.Gln938Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu1089fs Single submitter
  • p.Glu1131Ter Single submitter PCNT-related disorder
  • p.Glu128Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu1528Ter Single submitter PCNT-related disorder
  • p.Glu2520fs Single submitter
  • p.Glu2769Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu2884fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu383Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu421fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu517Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gly183fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.His601fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Leu2106fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Leu2674fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Leu358Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Lys445fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Met2188fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Thr2852fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Thr3304fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Tyr3139Ter Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Val1961fs Single submitter
  • p.Val719_Lys720delinsPheAsnThrIleTer Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.1345-1G>T No assertion criteria microcephalic osteodysplastic primordial dwarfism type II
  • c.7179+1G>T No assertion criteria PCNT-related disorder
  • c.7320+1G>A No assertion criteria PCNT-related disorder
  • c.9274-2A>C No assertion criteria PCNT-related disorder
  • p.Ala1065fs No assertion criteria PCNT-related disorder
  • p.Asp2148fs No assertion criteria PCNT-related disorder
  • p.Asp60fs No assertion criteria PCNT-related disorder
  • p.Gln1556Ter No assertion criteria microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln1686fs No assertion criteria microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln2805Ter No assertion criteria PCNT-related disorder
  • p.Gln924Ter No assertion criteria PCNT-related disorder
  • p.Glu1068Ter No assertion criteria
  • p.Glu1224Ter No assertion criteria microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu2428Ter No assertion criteria PCNT-related disorder
  • p.Glu2503Ter No assertion criteria PCNT-related disorder
  • p.Glu773Ter No assertion criteria microcephalic osteodysplastic primordial dwarfism type II
  • p.Leu2542fs No assertion criteria PCNT-related disorder
  • p.Met3036fs No assertion criteria PCNT-related disorder
  • p.Ser149fs No assertion criteria microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser1630fs No assertion criteria PCNT-related disorder
  • p.Thr510fs No assertion criteria PCNT-related disorder

Conflicting classifications of pathogenicity 240

  • c.1457-9dup Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.1761+13G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.2154+7C>T Single submitter
  • c.2154+8G>A Single submitter
  • c.2609+4G>A Single submitter
  • c.2610-7G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.2610-8T>C Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.268-5_268-3del Single submitter
  • c.3312+14G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4003+10A>G Single submitter PCNT-related disorder
  • c.4216+9C>T Single submitter
  • c.4447-2A>G Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4563+11G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4563+15C>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4584+11G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4584+11G>C Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4584+3G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4584+9G>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4585-3T>C Single submitter
  • c.4791+14A>G Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.4791+8G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.5994+13dup Single submitter
  • c.5994+4G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.6150+10G>C Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.6150+3G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.6151-9C>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.7180-7G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.7180-8C>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.720+10C>T Single submitter PCNT-related disorder
  • c.721-5C>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.721-7G>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.7321-10C>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.8996+10C>G Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.8997-18G>T Single submitter
  • c.9099+13C>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.9099+14G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.9099+8G>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.9393+1G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.9393+8C>T Single submitter
  • c.9840-4G>A Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • c.9968-3C>T Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala1161Thr Single submitter ⚠
  • p.Ala1352= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala1380= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala1380Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ala1613Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ala1861Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ala1868Val Single submitter ⚠
  • p.Ala1964Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala2011Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ala2256= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala2292= Single submitter Inborn genetic diseases
  • p.Ala2349Pro Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ala2408= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala2523Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ala2601= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala2650= Single submitter
  • p.Ala2977Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ala3097= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala326Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ala385= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala493= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala530= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala853Val Single submitter Inborn genetic diseases ⚠
  • p.Arg1074Trp Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg1239Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1239His Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg1250Gln Single submitter PCNT-related disorder ⚠
  • p.Arg1360Cys Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg1392Gln Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg1408Trp Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg143His Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg1651= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg169His Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg1811His Single submitter Inborn genetic diseases ⚠
  • p.Arg1840His Single submitter Inborn genetic diseases ⚠
  • p.Arg1855= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg1883Trp Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg1903Cys Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg1903His Single submitter Inborn genetic diseases ⚠
  • p.Arg1903Leu Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg1931Leu Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg1950Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg2042His Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg2201Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg2212Gln Single submitter PCNT-related disorder ⚠
  • p.Arg230Cys Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg2388Cys Single submitter ⚠
  • p.Arg2388His Single submitter Inborn genetic diseases ⚠
  • p.Arg2475Gln Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg2617Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg2762Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg2800Gln Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg288His Single submitter Inborn genetic diseases ⚠
  • p.Arg2951His Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg2969Gln Single submitter PCNT-related disorder ⚠
  • p.Arg2987Trp Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg3111His Single submitter ⚠
  • p.Arg3191His Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg320Lys Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg3236Gln Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Arg711His Single submitter Inborn genetic diseases ⚠
  • p.Arg792= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg8= Single submitter
  • p.Arg820Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg868Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg945Cys Single submitter Inborn genetic diseases ⚠
  • p.Asn2153Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp1147= Single submitter
  • p.Asp1987Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Asp2047= Single submitter
  • p.Asp2299Asn Single submitter ⚠
  • p.Asp2337= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Asp2343= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Asp2612= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Asp579= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Asp657Glu Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Asp859Asn Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Cys117Arg Single submitter PCNT-related disorder ⚠
  • p.Cys117Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys215Tyr Single submitter Global developmental delay ⚠
  • p.Cys2254Tyr Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Gln1254= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln1477= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln2031= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln2659His Single submitter ⚠
  • p.Gln905Arg Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Glu2428Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu2489Lys Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Glu327Gln Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Glu457Gly Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Glu531= Single submitter
  • p.Gly136Ser Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Gly1781Arg Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Gly1826Ala Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Gly1973= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gly1980= Single submitter
  • p.Gly2048= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gly2261Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly2273= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gly2331Arg Single submitter ⚠
  • p.Gly2354Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Gly2373Glu Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Gly2437Arg Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Gly928= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Gly958Ser Single submitter Inborn genetic diseases ⚠
  • p.His112= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.His130Arg Single submitter Inborn genetic diseases ⚠
  • p.His156Arg Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.His2676= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.His310= Single submitter
  • p.His3276Tyr Single submitter ⚠
  • p.His369= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.His412= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.His427= Single submitter
  • p.His488Arg Single submitter ⚠
  • p.Ile1183= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ile1548Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ile1676Thr Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ile197Met Single submitter PCNT-related disorder ⚠
  • p.Ile2724= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ile416Val Single submitter ⚠
  • p.Leu1105= Single submitter Inborn genetic diseases
  • p.Leu1463Met Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Leu2434Ile Single submitter Inborn genetic diseases ⚠
  • p.Leu2487Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Leu2488= Single submitter
  • p.Leu2567= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Leu2665= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Leu2882Phe Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Leu2983Phe Single submitter ⚠
  • p.Leu408= Single submitter
  • p.Leu581= Single submitter
  • p.Leu688Phe Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Lys1733= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Lys2054fs Single submitter PCNT-related disorder
  • p.Lys2944del Single submitter
  • p.Lys347Arg Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Lys572= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Lys678Arg Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Lys718= Single submitter
  • p.Lys876= Single submitter
  • p.Lys937Gln Single submitter ⚠
  • p.Met1559Leu Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Met1852Val Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Phe1295= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Phe2319Leu Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Phe395= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Pro113= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Pro1216Leu Single submitter ⚠
  • p.Pro1517= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Pro1524Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro1909Leu Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Pro1992Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro2156= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Pro2193Leu Single submitter PCNT-related disorder ⚠
  • p.Pro2215= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Pro2215Ala Single submitter ⚠
  • p.Pro2295Leu Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Pro2296Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro2368= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Pro2420Leu Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Pro2901Leu Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Pro648Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro79Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser1111= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser1245Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser1985Phe Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Ser2123fs Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser2410= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser2433Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser2963= Single submitter
  • p.Ser2963Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser3284= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser967Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr1036= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Thr1615Met Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Thr173Ala Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Thr1979= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Thr2024= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Thr2444= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Thr2531= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Thr2544= Single submitter
  • p.Thr2713Met Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Thr2775= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Thr3030= Single submitter
  • p.Thr3198= Single submitter
  • p.Tyr703Phe Single submitter ⚠
  • p.Val135= Single submitter
  • p.Val1592Gly Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Val1643= Single submitter
  • p.Val1692Ile Single submitter Inborn genetic diseases ⚠
  • p.Val1894Ile Single submitter ⚠
  • p.Val1935Leu Single submitter PCNT-related disorder ⚠
  • p.Val2025Ile Single submitter Inborn genetic diseases ⚠
  • p.Val2064= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Val2216= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Val2311= Single submitter microcephalic osteodysplastic primordial dwarfism type II
  • p.Val2801Leu Single submitter microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Val626Ile Single submitter Inborn genetic diseases ⚠

Benign 225

Benign/Likely benign 67

  • c.4792-6dup Multiple submitters
  • c.4962+10G>A Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.6150+11G>C Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.640-8T>G Multiple submitters
  • c.7180-17G>T Multiple submitters
  • c.721-13T>G Multiple submitters
  • c.7495-13A>G Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.7914-4G>A Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.7914-5C>T Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.8065-18dup Multiple submitters
  • c.8065-19G>A Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.8751+17G>A Multiple submitters
  • c.9099+12G>A Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.9394-3T>C Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.9623+8C>T Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.9700+10C>T Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • c.9967+18C>T Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala1194Thr Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala1381Val Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala1904Thr Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala1915Thr Multiple submitters Inborn genetic diseases
  • p.Ala1924Val Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala2306= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala2551Val Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala2891Thr Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala2903Thr Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala2965= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala3058= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ala955= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg1130= Multiple submitters
  • p.Arg1135= Multiple submitters
  • p.Arg1429Cys Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg1939Trp Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg1942= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg2212Trp Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg2552= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Arg2918Gln Multiple submitters
  • p.Asp2093Asn Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Asp2427= Multiple submitters
  • p.Gln1449Glu Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln1908= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln2027Arg Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Gln2087= Multiple submitters
  • p.Gln2468His Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu1872Lys Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu2466= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu2471= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Glu302Lys Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Gly1452Arg Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.His156_Gln168del Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.His156_Gln168dup Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.His1751Gln Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Leu2975Pro Multiple submitters microcephalic osteodysplastic primordial dwarfism type II ⚠
  • p.Leu3317= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Phe2347Ser Multiple submitters
  • p.Pro1637Leu Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Pro2243= Multiple submitters
  • p.Pro2274= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Pro2329Arg Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser1113= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser2191Pro Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser3093= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Ser480Gly Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Thr2206Ala Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Val1994= Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Val2387Met Multiple submitters microcephalic osteodysplastic primordial dwarfism type II
  • p.Val856Met Multiple submitters

Likely benign 1687

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

Uncertain significance 1324

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