Sugi Variant

Sugi Variant/ASXL3

ASXL3 — 1006 ClinVar variants

All ClinVar germline ASXL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 440 flagged for review →

125 Pathogenic · 20 Pathogenic/Likely pathogenic · 86 Likely pathogenic · 39 Conflicting · 79 Benign · 36 Benign/Likely benign · 218 Likely benign · 403 Uncertain significance

Full ASXL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 440

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 20

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

Predicted LoF vs a conflicting call 6

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 241

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 241

Predictors split 172

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 172

All ASXL3 variants

Pathogenic 125

  • c.3039+1G>A Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Arg1060fs Multiple submitters intellectual disability
  • p.Arg1467Ter Multiple submitters neurodevelopmental disorder
  • p.Arg1560Ter Multiple submitters
  • p.Cys463_Glu464delinsTer Multiple submitters Inborn genetic diseases
  • p.Gln1322Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln404Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln451Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln595Ter Multiple submitters
  • p.Gln601Ter Multiple submitters
  • p.Glu367fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu500fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu580Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu1407fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys1631fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Pro424fs Multiple submitters Inborn genetic diseases
  • p.Ser603Ter Multiple submitters
  • p.Thr1272fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Thr1404fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Thr398fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Val1385fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Val876fs Multiple submitters intellectual disability
  • c.137+1G>A Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • c.3039+1G>T Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • c.3039+2T>G Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ala1072fs Single submitter Inborn genetic diseases
  • p.Ala1375fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Arg301fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Asn1164_Cys1165insTer Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Asn1278fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Asn485fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Asn498delinsLysTer Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Cys1292fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Cys423Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Cys622fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln1015Ter Single submitter
  • p.Gln1063Ter Single submitter ASXL3-related disorder
  • p.Gln1122Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln1454Ter Single submitter syndromic intellectual disability
  • p.Gln1512Ter Single submitter
  • p.Gln1706fs Single submitter Inborn genetic diseases
  • p.Gln397Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln403Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln404fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln527fs Single submitter
  • p.Gln527Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln633fs Single submitter
  • p.Glu1718fs Single submitter
  • p.Glu347Ter Single submitter Inborn genetic diseases
  • p.Glu402fs Single submitter
  • p.Glu452fs Single submitter Inborn genetic diseases
  • p.Glu456fs Single submitter
  • p.Glu489Ter Single submitter
  • p.Glu500Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu528Ter Single submitter
  • p.Glu529Ter Single submitter
  • p.Glu538Ter Single submitter Inborn genetic diseases
  • p.Glu566fs Single submitter
  • p.Glu593Ter Single submitter
  • p.Glu859_Met860insTer Single submitter
  • p.Gly1046fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gly1088fs Single submitter
  • p.Gly1094fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gly1388fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gly1864fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gly629fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.His1252fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.His1624fs Single submitter
  • p.Ile1249fs Single submitter
  • p.Ile544fs Single submitter Inborn genetic diseases
  • p.Leu422fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu499fs Single submitter
  • p.Leu509Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu512Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu543fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu602fs Single submitter Inborn genetic diseases
  • p.Leu710fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys1026Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys1109fs Single submitter
  • p.Lys1250fs Single submitter
  • p.Lys1829fs Single submitter
  • p.Lys559_Glu560insThrTer Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Met1420fs Single submitter
  • p.Met425fs Single submitter
  • p.Pro1022fs Single submitter
  • p.Pro1148_Glu1149insTer Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Pro1456_Pro1457insTer Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Pro474fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Pro495fs Single submitter
  • p.Ser1017fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser1135fs Single submitter neurodevelopmental disorder
  • p.Ser1210Ter Single submitter
  • p.Ser1246Ter Single submitter autism spectrum disorder
  • p.Ser1543Ter Single submitter Inborn genetic diseases
  • p.Ser1653Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser439Ter Single submitter Inborn genetic diseases
  • p.Ser477fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser482fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser561Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser654_Ser655insTer Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Thr1106fs Single submitter Inborn genetic diseases
  • p.Thr346fs Single submitter
  • p.Thr460fs Single submitter
  • p.Thr556fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Thr647fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Trp1609Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Tyr1633Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Tyr358fs Single submitter
  • p.Tyr662Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Val1341fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Val1505fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Val449fs Single submitter
  • c.3039+66_3997delinsAGAAGCCTAGGTGTAC No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ala606_Cys607insTer No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln1636fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln466Ter No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu475Ter No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gly1940fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu512fs No assertion criteria
  • p.Pro1208fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Pro494fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser1441Ter No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Thr1389fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Thr484fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Val1358fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Pathogenic/Likely pathogenic 20

  • p.Ala1112fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Arg1036Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Arg1068Ter Multiple submitters Inborn genetic diseases
  • p.Arg1117Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Arg1444Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Arg1823Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Asp721Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln1001Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln491Ter Multiple submitters intellectual disability
  • p.Gln664Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu459fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gly1459fs Multiple submitters Inborn genetic diseases
  • p.Leu934Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys1568_Leu1569insTer Multiple submitters
  • p.Phe1111fs Multiple submitters Inborn genetic diseases
  • p.Pro1470fs Multiple submitters autism spectrum disorder
  • p.Pro180fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser1155Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser617fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Trp12Ter Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Likely pathogenic 86

  • p.Glu1153Ter Multiple submitters Rare syndromic intellectual disability
  • p.Met1614fs Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • c.1082+1781_3039+950del Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • c.3039+1G>C Single submitter
  • c.3039+2T>A Single submitter Inborn genetic diseases
  • c.355+1G>A Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ala1100fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ala1118fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ala1542fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Arg1729fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Arg63Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Asn1187fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Asn865fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Asp1259fs Single submitter
  • p.Cys1299fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Cys2230fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln1382Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln165Ter Single submitter
  • p.Gln2071Ter Single submitter
  • p.Gln397fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln582Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gln800Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu1006fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu1205Ter Single submitter Marfanoid habitus and intellectual disability
  • p.Glu1632_Tyr1633insTer Single submitter
  • p.Glu415Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu468Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu557Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu691fs Single submitter
  • p.Glu873fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu968Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ile683fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu1012fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu1198Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu537fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu579fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys1171Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys1452fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys1808fs Single submitter
  • p.Lys1875Ter Single submitter Inborn genetic diseases
  • p.Lys2055fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys4fs Single submitter
  • p.Lys571_Ile572insTer Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Met1363fs Single submitter
  • p.Met504fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Phe1121fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Phe1416Ter Single submitter
  • p.Pro1805fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser1242fs Single submitter
  • p.Ser1262fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser1269Arg Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Ser1468Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser1490fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser1604fs Single submitter
  • p.Ser383fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser410fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser576fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser678Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Thr668fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Trp1878Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Trp2069Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Trp319Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Tyr1338Ter Single submitter
  • p.Val1009fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Val517_Lys518insTer Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • c.138-2A>G No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • c.715+5G>C No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ala1463fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Asp660fs No assertion criteria
  • p.Gln536Ter No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu1193Ter No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu368Ter No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu459Ter No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu528fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Gly1154fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu1282Ter No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys864fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Phe1579fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Phe476_Ser477insTer No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Pro1803fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser134Ter No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser1386fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser365Ter No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser614fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Thr1127fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Thr1284fs No assertion criteria severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Conflicting classifications of pathogenicity 39

  • c.137+9017_137+9018del Single submitter ASXL3-related disorder
  • p.Arg1176Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1446fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Arg1584Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1615Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg181His Single submitter ⚠
  • p.Arg1899Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg232Ter Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Asn1141fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Asn1352Asp Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Asn1366Ile Single submitter Inborn genetic diseases ⚠
  • p.Asn485Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp660Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln2100Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly1046Arg Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Ile590Val Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Leu1324Ile Single submitter Inborn genetic diseases ⚠
  • p.Lys1032Arg Single submitter Inborn genetic diseases ⚠
  • p.Met530Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro1513Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro2019Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro2027_Pro2028del Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Pro2032Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro2033Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro2036Arg Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Pro2037fs Single submitter ⚠
  • p.Pro2038fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Pro405Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro642Leu Single submitter ⚠
  • p.Pro718Ser Single submitter ⚠
  • p.Pro781Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro824Leu Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Ser1155Leu Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Thr1404Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr1422Lys Single submitter Inborn genetic diseases ⚠
  • p.Thr1488fs Single submitter severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Thr569= Single submitter
  • p.Val1489Leu Single submitter Inborn genetic diseases ⚠
  • p.Val653Ile Single submitter Inborn genetic diseases ⚠

Benign 79

Benign/Likely benign 36

  • p.Ala1108= Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ala207= Multiple submitters
  • p.Ala2120Val Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ala765Gly Multiple submitters Inborn genetic diseases
  • p.Ala819= Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Arg1584= Multiple submitters
  • p.Arg1606Gln Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Arg665= Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Asp1725Asn Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Glu415Asp Multiple submitters Inborn genetic diseases
  • p.Gly1836Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly630= Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.His470Pro Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.His552Tyr Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ile861= Multiple submitters
  • p.Leu1054= Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Leu2067Arg Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Leu372= Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys1298Glu Multiple submitters Inborn genetic diseases
  • p.Lys1997= Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Lys846Arg Multiple submitters Inborn genetic diseases
  • p.Met860Lys Multiple submitters
  • p.Pro1130Arg Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Pro1131Ser Multiple submitters
  • p.Pro1228Ser Multiple submitters Inborn genetic diseases
  • p.Pro1667= Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Pro2018Leu Multiple submitters ⚠
  • p.Pro2024= Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Pro792Leu Multiple submitters Inborn genetic diseases
  • p.Ser1042Pro Multiple submitters Inborn genetic diseases
  • p.Ser1185= Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
  • p.Ser1490= Multiple submitters
  • p.Ser172Pro Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Ser799Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val1668Met Multiple submitters severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ⚠
  • p.Val731= Multiple submitters

Likely benign 218

Uncertain significance 403

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