ASH1L — 1043 ClinVar variants
All ClinVar germline ASH1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 245 flagged for review →
64 Pathogenic · 5 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 28 Conflicting · 23 Benign · 6 Benign/Likely benign · 172 Likely benign · 703 Uncertain significance
Full ASH1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 245
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ASH1L p.Ala724Ser
Pathogenic
No assertion criteria
intellectual disability, autosomal dominant 52
-
ASH1L p.Val2080Ile
Pathogenic
No assertion criteria
intellectual disability, autosomal dominant 52
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ASH1L p.Ala246Pro
Conflicting
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Arg2881Trp
Conflicting
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Arg52Trp
Conflicting
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Arg778Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ASH1L p.Asp63Gly
Conflicting
Single submitter
Inborn genetic diseases
-
ASH1L p.Glu156Lys
Conflicting
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Ile1295Val
Conflicting
Single submitter
Inborn genetic diseases
-
ASH1L p.Ser575Ala
Conflicting
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Thr192Ala
Conflicting
Single submitter
intellectual disability, autosomal dominant 52
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.
-
ASH1L p.Arg2963Ter
Conflicting
Single submitter
Inborn genetic diseases
-
ASH1L p.Leu1002fs
Conflicting
Single submitter
intellectual disability, autosomal dominant 52
Predictors lean, ClinVar uncertain 222
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 222
-
ASH1L p.Ala296Pro
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 52
-
ASH1L p.Ala60Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASH1L p.Arg2101Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASH1L p.Arg2418Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASH1L p.Arg2796Ser
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 52
-
ASH1L p.Asn1594Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ASH1L p.Asn2223Asp Uncertain significance Multiple submitters
-
ASH1L p.Asp2477Gly
Uncertain significance
Multiple submitters
ASH1L-related neurodevelopmental disorders
-
ASH1L p.Glu2149Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASH1L p.Glu2351Lys
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 52
- ASH1L p.Glu573Ala Uncertain significance Multiple submitters
-
ASH1L p.Gly2238Ala
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 52
-
ASH1L p.Gly536Val
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 52
-
ASH1L p.Ile1779Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ASH1L p.Ile2216Val Uncertain significance Multiple submitters
-
ASH1L p.Leu775Phe
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 52
-
ASH1L p.Phe2045Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASH1L p.Ser1016Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASH1L p.Ser2304Phe
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 52
-
ASH1L p.Thr1057Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASH1L p.Tyr2454Cys
Uncertain significance
Multiple submitters
ASH1L-related disorder
-
ASH1L p.Ala1081Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Ala1394Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Ala1708Val Uncertain significance Single submitter
-
ASH1L p.Ala2299Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Ala2464Gly Uncertain significance Single submitter
-
ASH1L p.Ala2505Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Ala2545Thr Uncertain significance Single submitter
-
ASH1L p.Ala263Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Ala2869Thr Uncertain significance Single submitter
- ASH1L p.Ala2884Asp Uncertain significance Single submitter
-
ASH1L p.Ala2886Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Ala296Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Ala314Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Ala428Val Uncertain significance Single submitter
-
ASH1L p.Ala697Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Arg1306Leu
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Arg1350Gly Uncertain significance Single submitter
-
ASH1L p.Arg140Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Arg1686Lys Uncertain significance Single submitter
- ASH1L p.Arg1852Pro Uncertain significance Single submitter
- ASH1L p.Arg200Gln Uncertain significance Single submitter
- ASH1L p.Arg2144Gln Uncertain significance Single submitter
-
ASH1L p.Arg2182Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Arg2214Gln
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Arg2236Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Arg2236Trp Uncertain significance Single submitter
-
ASH1L p.Arg2276Gly
Uncertain significance
Single submitter
congenital heart disease
- ASH1L p.Arg2364Gln Uncertain significance Single submitter
-
ASH1L p.Arg2421Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Arg2421Gly Uncertain significance Single submitter
- ASH1L p.Arg2459Gln Uncertain significance Single submitter
- ASH1L p.Arg2671Leu Uncertain significance Single submitter
-
ASH1L p.Arg2698Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Arg2719His
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Arg2766Gly Uncertain significance Single submitter
-
ASH1L p.Arg2781Gln
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Arg2794Gly
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Arg2881Leu
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Arg2916Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Arg35Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Arg890Gly
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Asn1777Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Asn1812Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Asn1905Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Asn211Ser Uncertain significance Single submitter
- ASH1L p.Asn2294Tyr Uncertain significance Single submitter
-
ASH1L p.Asn2540Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Asn53Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Asn602Lys
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Asp130Gly Uncertain significance Single submitter
- ASH1L p.Asp1638Glu Uncertain significance Single submitter
-
ASH1L p.Asp1668Gly
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Asp2107Tyr Uncertain significance Single submitter
- ASH1L p.Asp2405Val Uncertain significance Single submitter
- ASH1L p.Asp2758Glu Uncertain significance Single submitter
- ASH1L p.Asp2937Asn Uncertain significance Single submitter
- ASH1L p.Cys108Arg Uncertain significance Single submitter
-
ASH1L p.Cys1775Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Cys1790Tyr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Cys2195Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Cys2608Tyr Uncertain significance Single submitter
- ASH1L p.Cys2763Tyr Uncertain significance Single submitter
-
ASH1L p.Gln1075Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Gln1220Pro Uncertain significance Single submitter
- ASH1L p.Gln1555Arg Uncertain significance Single submitter
-
ASH1L p.Gln158Arg
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Gln158His
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Gln1658Arg Uncertain significance Single submitter
- ASH1L p.Gln168Leu Uncertain significance Single submitter
-
ASH1L p.Gln1859Arg
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Gln2596Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Gln603His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Glu1290Asp
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Glu1731Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Glu1881Asp
Uncertain significance
Single submitter
ASH1L-related disorder
-
ASH1L p.Glu1909Ala
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Glu2116Gly Uncertain significance Single submitter
- ASH1L p.Glu2149Asp Uncertain significance Single submitter
-
ASH1L p.Glu2706Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Glu38Asp Uncertain significance Single submitter
- ASH1L p.Gly2450Cys Uncertain significance Single submitter
- ASH1L p.Gly2450Ser Uncertain significance Single submitter
- ASH1L p.Gly258Asp Uncertain significance Single submitter
-
ASH1L p.Gly260Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Gly264Ala Uncertain significance Single submitter
-
ASH1L p.Gly2661Ala
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Gly2661Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Gly600Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.His1305Tyr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.His2543Arg
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.His2574Pro
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Ile1088Met
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Ile1550Met Uncertain significance Single submitter
- ASH1L p.Ile2383Ser Uncertain significance Single submitter
- ASH1L p.Ile2395Val Uncertain significance Single submitter
- ASH1L p.Ile2635Val Uncertain significance Single submitter
- ASH1L p.Ile265Val Uncertain significance Single submitter
- ASH1L p.Ile2699Thr Uncertain significance Single submitter
- ASH1L p.Ile2792Thr Uncertain significance Single submitter
-
ASH1L p.Ile2859Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Ile2922Asn
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Ile2957Met
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Ile328Thr Uncertain significance Single submitter
-
ASH1L p.Ile346Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Ile422Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Leu1543Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Leu1886Val Uncertain significance Single submitter
-
ASH1L p.Leu1974Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Leu2008Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Leu2109Phe Uncertain significance Single submitter
-
ASH1L p.Leu2242Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Leu321Ile
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Leu361Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Leu452Phe Uncertain significance Single submitter
-
ASH1L p.Leu490Phe
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Leu611Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Leu734Pro Uncertain significance Single submitter
- ASH1L p.Lys1979Arg Uncertain significance Single submitter
- ASH1L p.Lys2150Glu Uncertain significance Single submitter
- ASH1L p.Lys2501Arg Uncertain significance Single submitter
-
ASH1L p.Lys2576Arg
Uncertain significance
Single submitter
intellectual disability
- ASH1L p.Lys389Gln Uncertain significance Single submitter
- ASH1L p.Met1864Ile Uncertain significance Single submitter
-
ASH1L p.Met1864Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Met2112Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
-
ASH1L p.Met2226Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Met2344Arg Uncertain significance Single submitter
- ASH1L p.Met534Thr Uncertain significance Single submitter
-
ASH1L p.Phe2956Ser
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 10
The independent predictors disagree with each other — read with care.
-
ASH1L p.Arg1720Trp
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 52
- ASH1L p.Arg1983His Likely benign Single submitter
- ASH1L p.Arg2397Gln Uncertain significance Single submitter
- ASH1L p.Arg2523His Likely benign Single submitter
- ASH1L p.Arg2766Lys Uncertain significance Single submitter
-
ASH1L p.Arg2796His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Arg2912Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ASH1L p.Lys2000Asn Uncertain significance Single submitter
-
ASH1L p.Pro1857Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASH1L p.Ser2453Pro
Likely pathogenic
Single submitter
ASH1L-related disorder
All ASH1L variants
Pathogenic 64
- c.6178-2A>G Multiple submitters intellectual disability, autosomal dominant 52
- p.Arg1342Ter Multiple submitters intellectual disability, autosomal dominant 52
- p.Arg1527Ter Multiple submitters intellectual disability, autosomal dominant 52
- p.Arg2535Ter Multiple submitters Inborn genetic diseases
- p.Arg2834Ter Multiple submitters Inborn genetic diseases
- p.Lys1222fs Multiple submitters ASH1L-related disorder
- p.Lys969fs Multiple submitters intellectual disability
- c.6103+2T>C Single submitter intellectual disability, autosomal dominant 52
- c.6223+2T>G Single submitter
- p.Arg1306Ter Single submitter intellectual disability, autosomal dominant 52
- p.Arg1313Ter Single submitter intellectual disability, autosomal dominant 52
- p.Arg164fs Single submitter intellectual disability, autosomal dominant 52
- p.Arg2146Ter Single submitter Inborn genetic diseases
- p.Arg2214Ter Single submitter intellectual disability, autosomal dominant 52
- p.Arg2276Ter Single submitter
- p.Arg2397Ter Single submitter intellectual disability, autosomal dominant 52
- p.Arg2418Ter Single submitter
- p.Arg2421Ter Single submitter
- p.Arg2911Ter Single submitter
- p.Arg484Ter Single submitter
- p.Asn987fs Single submitter intellectual disability, autosomal dominant 52
- p.Asp68fs Single submitter
- p.Cys1775Ter Single submitter intellectual disability, autosomal dominant 52
- p.Cys2122Ter Single submitter Inborn genetic diseases
- p.Gln1278fs Single submitter intellectual disability, autosomal dominant 52
- p.Gln1836Ter Single submitter
- p.Gln2341fs Single submitter intellectual disability, autosomal dominant 52
- p.Gln705Ter Single submitter
- p.Glu1553fs Single submitter
- p.Glu2168Ter Single submitter
- p.Glu486Ter Single submitter
- p.Gly264Ter Single submitter
- p.Gly551Ter Single submitter Inborn genetic diseases
- p.Gly628fs Single submitter
- p.Gly733fs Single submitter Inborn genetic diseases
- p.His1192fs Single submitter intellectual disability, autosomal dominant 52
- p.Ile1295del Single submitter
- p.Ile662fs Single submitter Inborn genetic diseases
- p.Leu1835fs Single submitter Neurodevelopmental delay
- p.Leu782fs Single submitter Inborn genetic diseases
- p.Leu998fs Single submitter
- p.Lys544fs Single submitter
- p.Lys653fs Single submitter intellectual disability, autosomal dominant 52
- p.Met989fs Single submitter intellectual disability, autosomal dominant 52
- p.Phe1287fs Single submitter neurodevelopmental disorder
- p.Pro1857fs Single submitter intellectual disability, autosomal dominant 52
- p.Ser1713fs Single submitter
- p.Ser674fs Single submitter Inborn genetic diseases
- p.Ser924fs Single submitter
- p.Thr1184fs Single submitter Inborn genetic diseases
- p.Thr2090fs Single submitter intellectual disability, autosomal dominant 52
- p.Trp2366Ter Single submitter
- p.Tyr1046fs Single submitter
- p.Tyr1409fs Single submitter
- p.Tyr2521fs Single submitter
- p.Val364fs Single submitter intellectual disability, autosomal dominant 52
- p.Ala2786Pro No assertion criteria intellectual disability, autosomal dominant 52
- p.Ala724Ser No assertion criteria intellectual disability, autosomal dominant 52 ⚠
- p.Arg2952fs No assertion criteria intellectual disability, autosomal dominant 52
- p.Asp2590fs No assertion criteria intellectual disability, autosomal dominant 52
- p.Cys2268fs No assertion criteria intellectual disability, autosomal dominant 52
- p.Glu2143Ter No assertion criteria intellectual disability, autosomal dominant 52
- p.Ser338Ter No assertion criteria intellectual disability, autosomal dominant 52
- p.Val2080Ile No assertion criteria intellectual disability, autosomal dominant 52 ⚠
Pathogenic/Likely pathogenic 5
- p.Arg1280Ter Multiple submitters intellectual disability, autosomal dominant 52
- p.Arg712fs Multiple submitters intellectual disability, autosomal dominant 52
- p.Arg778Ter Multiple submitters intellectual disability, autosomal dominant 52
- p.Lys1347fs Multiple submitters intellectual disability, autosomal dominant 52
- p.Ser1635fs Multiple submitters ASH1L-related disorder
Likely pathogenic 42
- p.Arg1757Ter Multiple submitters intellectual disability, autosomal dominant 52
- p.Asn1551fs Multiple submitters intellectual disability, autosomal dominant 52
- p.Gly651fs Multiple submitters intellectual disability, autosomal dominant 52
- p.Ala2712fs Single submitter intellectual disability, autosomal dominant 52
- p.Arg1321Ter Single submitter intellectual disability, autosomal dominant 52
- p.Arg2007Ter Single submitter intellectual disability, autosomal dominant 52
- p.Arg2364Ter Single submitter ASH1L-related disorder
- p.Arg2653Ter Single submitter intellectual disability, autosomal dominant 52
- p.Arg54Ter Single submitter
- p.Arg895fs Single submitter
- p.Asp2044Ter Single submitter intellectual disability, autosomal dominant 52
- p.Cys1579fs Single submitter intellectual disability, autosomal dominant 52
- p.Gln1075fs Single submitter intellectual disability, autosomal dominant 52
- p.Gln1859Ter Single submitter intellectual disability, autosomal dominant 52
- p.Gln2046Ter Single submitter neurodevelopmental disorder
- p.Gln2660Ter Single submitter intellectual disability, autosomal dominant 52
- p.Gln2903Ter Single submitter intellectual disability, autosomal dominant 52
- p.Gln896_Met897insAlaTer Single submitter ASH1L-related disorder
- p.Glu1236fs Single submitter intellectual disability, autosomal dominant 52
- p.Glu1292fs Single submitter ASH1L-related disorder
- p.Gly1430Val Single submitter intellectual disability, autosomal dominant 52
- p.Gly1710fs Single submitter intellectual disability, autosomal dominant 52
- p.Gly714fs Single submitter intellectual disability, autosomal dominant 52
- p.Ile2395fs Single submitter intellectual disability, autosomal dominant 52
- p.Ile2930fs Single submitter intellectual disability, autosomal dominant 52
- p.Leu1070Ter Single submitter syndromic complex neurodevelopmental disorder
- p.Leu709fs Single submitter intellectual disability, autosomal dominant 52
- p.Lys2041fs Single submitter ASH1L-related disorder
- p.Lys44fs Single submitter ASH1L-related disorder
- p.Met1356fs Single submitter intellectual disability, autosomal dominant 52
- p.Phe936fs Single submitter
- p.Pro717fs Single submitter intellectual disability, autosomal dominant 52
- p.Ser1326fs Single submitter intellectual disability, autosomal dominant 52
- p.Ser1580Ter Single submitter intellectual disability, autosomal dominant 52
- p.Ser2453Pro Single submitter ASH1L-related disorder ⚠
- p.Ser636Ter Single submitter intellectual disability, autosomal dominant 52
- p.Tyr1528Ter Single submitter intellectual disability, autosomal dominant 52
- p.Tyr2253Ter Single submitter intellectual disability, autosomal dominant 52
- p.Tyr2499fs Single submitter intellectual disability, autosomal dominant 52
- p.Arg2691Ter No assertion criteria
- p.Glu493fs No assertion criteria ASH1L-related disorder
- p.Val2602Leu No assertion criteria intellectual disability, autosomal dominant 52
Conflicting classifications of pathogenicity 28
- c.8803+5G>A Single submitter intellectual disability, autosomal dominant 52
- p.Ala246Pro Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg109Gln Single submitter intellectual disability, autosomal dominant 52
- p.Arg2073His Single submitter autism spectrum disorder
- p.Arg2533Cys Single submitter Inborn genetic diseases
- p.Arg2533His Single submitter intellectual disability
- p.Arg2881Trp Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg2963Ter Single submitter Inborn genetic diseases ⚠
- p.Arg52Trp Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg778Gln Single submitter Inborn genetic diseases ⚠
- p.Asn2349Ser Single submitter intellectual disability, autosomal dominant 52
- p.Asp1763Gly Single submitter Inborn genetic diseases
- p.Asp63Gly Single submitter Inborn genetic diseases ⚠
- p.Cys747Arg Single submitter intellectual disability, autosomal dominant 52
- p.Gln1806Glu Single submitter
- p.Gln879Arg Single submitter Inborn genetic diseases
- p.Glu156Lys Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Ile1295Val Single submitter Inborn genetic diseases ⚠
- p.Ile2452= Single submitter intellectual disability, autosomal dominant 52
- p.Ile867Val Single submitter Inborn genetic diseases
- p.Leu1002fs Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Met1427Val Single submitter ASH1L-related disorder
- p.Ser1495Phe Single submitter intellectual disability, autosomal dominant 52
- p.Ser575Ala Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Ser74Leu Single submitter intellectual disability, autosomal dominant 52
- p.Ser796Asn Single submitter intellectual disability, autosomal dominant 52
- p.Thr192Ala Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Val1128Ala Single submitter
Benign 23
- c.8293+58A>G Multiple submitters intellectual disability, autosomal dominant 52
- p.Ala314= Multiple submitters
- p.Arg2182= Multiple submitters
- p.Cys440Gly Multiple submitters intellectual disability, autosomal dominant 52
- p.Ile116Thr Multiple submitters
- p.Leu809= Multiple submitters
- p.Ser1416Pro Multiple submitters intellectual disability
- p.Thr1771Ala Multiple submitters intellectual disability, autosomal dominant 52
- p.Tyr1400= Multiple submitters intellectual disability, autosomal dominant 52
- p.Val297= Multiple submitters
- c.7421+10C>A Single submitter
- c.-99-4G>A Single submitter intellectual disability, autosomal dominant 52
- p.Ala2417Thr Single submitter
- p.Cys2608= Single submitter
- p.Glu427Lys Single submitter
- p.Leu1782= Single submitter
- p.Lys1796= Single submitter
- p.Lys980= Single submitter
- p.Ser1733= Single submitter
- p.Val1770= Single submitter
- p.Asn1941Asp No assertion criteria ASH1L-related disorder
- p.Ser277Gly No assertion criteria ASH1L-related disorder
- p.Thr2565= No assertion criteria ASH1L-related disorder
Benign/Likely benign 6
- p.Ala1598Val Multiple submitters Inborn genetic diseases
- p.Arg777His Multiple submitters intellectual disability, autosomal dominant 52
- p.Glu1725= Multiple submitters intellectual disability, autosomal dominant 52
- p.Ile1107Val Multiple submitters
- p.Pro1198= Multiple submitters
- p.Pro1961Ser Multiple submitters Inborn genetic diseases
Likely benign 172
- p.Ala426= Multiple submitters
- p.Arg1615Gly Multiple submitters Inborn genetic diseases
- p.Arg2306Gln Multiple submitters Inborn genetic diseases
- p.Arg2659His Multiple submitters Inborn genetic diseases
- p.Arg777Cys Multiple submitters
- p.Asp2779= Multiple submitters
- p.Ile1795Val Multiple submitters Inborn genetic diseases
- p.Pro1700= Multiple submitters
- p.Pro530Leu Multiple submitters syndromic complex neurodevelopmental disorder
- p.Ser1754Cys Multiple submitters
- p.Ser608Gly Multiple submitters Inborn genetic diseases
- p.Ser918Gly Multiple submitters Inborn genetic diseases
- p.Thr284Ile Multiple submitters Inborn genetic diseases
- p.Tyr1813= Multiple submitters
- p.Val2888Ile Multiple submitters Inborn genetic diseases
- c.421-18T>C Single submitter
- c.6103+17C>A Single submitter
- c.6104-11T>C Single submitter
- c.6178-7C>T Single submitter intellectual disability
- c.7421+4G>A Single submitter
- c.7804-19A>T Single submitter
- c.7890+279C>T Single submitter
- c.7981+9A>G Single submitter
- c.8461-16del Single submitter
- c.8501+17dup Single submitter
- p.Ala1289= Single submitter
- p.Ala1947= Single submitter
- p.Ala2241= Single submitter
- p.Ala2541Val Single submitter autism spectrum disorder
- p.Ala791Ser Single submitter Inborn genetic diseases
- p.Arg1141= Single submitter
- p.Arg1342Gln Single submitter Inborn genetic diseases
- p.Arg1357= Single submitter
- p.Arg140Leu Single submitter
- p.Arg164His Single submitter
- p.Arg1673Trp Single submitter Inborn genetic diseases
- p.Arg1702Gln Single submitter
- p.Arg1751Cys Single submitter
- p.Arg1983His Single submitter ⚠
- p.Arg2111= Single submitter Inborn genetic diseases
- p.Arg2370His Single submitter
- p.Arg2523His Single submitter ⚠
- p.Arg2781= Single submitter
- p.Arg2881Gln Single submitter Inborn genetic diseases
- p.Arg484Gln Single submitter Inborn genetic diseases
- p.Arg50= Single submitter
- p.Arg953= Single submitter
- p.Asn1653= Single submitter
- p.Asn1697= Single submitter
- p.Asn1874Ser Single submitter Inborn genetic diseases
- p.Asn1907= Single submitter
- p.Asn1941= Single submitter
- p.Asn2516= Single submitter
- p.Asn554Ser Single submitter
- p.Asn744= Single submitter
- p.Asp1814Asn Single submitter
- p.Asp2577Asn Single submitter Inborn genetic diseases
- p.Asp2578Asn Single submitter Inborn genetic diseases
- p.Asp2758= Single submitter
- p.Asp2826Glu Single submitter Inborn genetic diseases
- p.Cys2583= Single submitter
- p.Gln1727= Single submitter
- p.Gln1929Arg Single submitter intellectual disability, autosomal dominant 52
- p.Gln2010= Single submitter
- p.Gln2127= Single submitter
- p.Gln2851Arg Single submitter Inborn genetic diseases
- p.Glu1362= Single submitter
- p.Glu2116= Single submitter
- p.Glu2185= Single submitter
- p.Glu2374= Single submitter
- p.Glu2616Ala Single submitter intellectual disability, autosomal dominant 52
- p.Glu520Gly Single submitter intellectual disability, autosomal dominant 52
- p.Gly61= Single submitter
- p.His1139= Single submitter
- p.His1534Pro Single submitter Inborn genetic diseases
- p.His2359= Single submitter
- p.Ile1062Val Single submitter
- p.Ile1288Val Single submitter
- p.Ile1734Thr Single submitter Inborn genetic diseases
- p.Ile2032= Single submitter
- p.Ile2279= Single submitter
- p.Ile2332= Single submitter
- p.Ile2332Asn Single submitter Inborn genetic diseases
- p.Ile624Thr Single submitter Inborn genetic diseases
- p.Ile665Met Single submitter
- p.Leu1136Phe Single submitter Inborn genetic diseases
- p.Leu1244= Single submitter
- p.Leu1391Phe Single submitter Inborn genetic diseases
- p.Leu197Phe Single submitter Inborn genetic diseases
- p.Leu2008Ter Single submitter intellectual disability, autosomal dominant 52
- p.Leu2196= Single submitter
- p.Leu2317Pro Single submitter Inborn genetic diseases
- p.Leu2924Pro Single submitter autism spectrum disorder
- p.Leu367= Single submitter
- p.Leu408Pro Single submitter
- p.Leu650Phe Single submitter Inborn genetic diseases
- p.Leu734Val Single submitter Inborn genetic diseases
- p.Leu85= Single submitter
- p.Leu87Phe Single submitter
- p.Leu908= Single submitter
- p.Met1730Val Single submitter
- p.Phe1371Tyr Single submitter
- p.Pro1091Ser Single submitter
- p.Pro1185Ala Single submitter
- p.Pro1234= Single submitter
- p.Pro1467Arg Single submitter Developmental disorder
- p.Pro1566= Single submitter
- p.Pro1674= Single submitter
- p.Pro1768Ser Single submitter
- p.Pro1931= Single submitter
- p.Pro2246Leu Single submitter Inborn genetic diseases
- p.Pro2465= Single submitter
- p.Pro2720= Single submitter
- p.Pro558= Single submitter
- p.Pro731Arg Single submitter
- p.Pro887= Single submitter
- p.Ser1105Leu Single submitter Inborn genetic diseases
- p.Ser1109Pro Single submitter
- p.Ser1119= Single submitter
- p.Ser1186= Single submitter
- p.Ser1261= Single submitter
- p.Ser15= Single submitter
- p.Ser1562= Single submitter
- p.Ser1677Arg Single submitter Inborn genetic diseases
- p.Ser1772Gly Single submitter Inborn genetic diseases
- p.Ser1783= Single submitter
- p.Ser2385Leu Single submitter Inborn genetic diseases
- p.Ser2839= Single submitter
- p.Ser33= Single submitter
- p.Ser608Asn Single submitter
- p.Ser688Thr Single submitter Inborn genetic diseases
- p.Ser746= Single submitter
- p.Ser951Asn Single submitter
- p.Ser958Asn Single submitter Inborn genetic diseases
- p.Thr1419= Single submitter
- p.Thr1454Arg Single submitter
- p.Thr2390= Single submitter
- p.Thr2409= Single submitter
- p.Thr244Ile Single submitter autism spectrum disorder
- p.Thr2753Ile Single submitter Inborn genetic diseases
- p.Thr275Pro Single submitter Inborn genetic diseases
- p.Thr2895= Single submitter
- p.Thr30Ser Single submitter Inborn genetic diseases
- p.Thr43= Single submitter
- p.Tyr1528= Single submitter
- p.Tyr2253= Single submitter
- p.Val1861= Single submitter
- p.Val1862Ile Single submitter Inborn genetic diseases
- p.Val564_Asn565insSerVal Single submitter
- p.Val883Leu Single submitter Inborn genetic diseases
- c.6103+9C>T No assertion criteria ASH1L-related disorder
- c.6795+3A>G No assertion criteria intellectual disability
- c.7804-6C>A No assertion criteria ASH1L-related disorder
- p.Ala1081Thr No assertion criteria intellectual disability
- p.Arg1313= No assertion criteria ASH1L-related disorder
- p.Asp1880= No assertion criteria ASH1L-related disorder
- p.Gln472His No assertion criteria ASH1L-related disorder
- p.Glu1480= No assertion criteria ASH1L-related disorder
- p.Glu597= No assertion criteria ASH1L-related disorder
- p.Glu59Gly No assertion criteria intellectual disability
- p.His1019= No assertion criteria ASH1L-related disorder
- p.His1558= No assertion criteria ASH1L-related disorder
- p.His1825Pro No assertion criteria ASH1L-related disorder
- p.Leu2060= No assertion criteria ASH1L-related disorder
- p.Leu847= No assertion criteria ASH1L-related disorder
- p.Met1360Val No assertion criteria intellectual disability
- p.Phe1287= No assertion criteria ASH1L-related disorder
- p.Ser2259= No assertion criteria ASH1L-related disorder
- p.Thr1329= No assertion criteria ASH1L-related disorder
- p.Thr2334= No assertion criteria ASH1L-related disorder
- p.Thr605= No assertion criteria ASH1L-related disorder
- p.Val2360= No assertion criteria ASH1L-related disorder
Uncertain significance 703
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1860Thr Multiple submitters ASH1L-related neurodevelopmental disorders
- p.Ala296Pro Multiple submitters intellectual disability, autosomal dominant 52 ⚠
- p.Ala60Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1624Gln Multiple submitters intellectual disability, autosomal dominant 52
- p.Arg1757Gln Multiple submitters
- p.Arg1805Gly Multiple submitters intellectual disability, autosomal dominant 52
- p.Arg1805His Multiple submitters
- p.Arg200Gly Multiple submitters Inborn genetic diseases
- p.Arg2073Cys Multiple submitters
- p.Arg2101Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg2418Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg2796Cys Multiple submitters Inborn genetic diseases
- p.Arg2796Ser Multiple submitters intellectual disability, autosomal dominant 52 ⚠
- p.Arg2951Ter Multiple submitters intellectual disability, autosomal dominant 52
- p.Asn1594Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn2223Asp Multiple submitters ⚠
- p.Asp2477Gly Multiple submitters ASH1L-related neurodevelopmental disorders ⚠
- p.Cys2645Tyr Multiple submitters intellectual disability, autosomal dominant 52
- p.Glu2087Lys Multiple submitters Inborn genetic diseases
- p.Glu2149Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu2351Lys Multiple submitters intellectual disability, autosomal dominant 52 ⚠
- p.Glu2840Ala Multiple submitters Inborn genetic diseases
- p.Glu47del Multiple submitters intellectual disability, autosomal dominant 52
- p.Glu573Ala Multiple submitters ⚠
- p.Gly2238Ala Multiple submitters intellectual disability, autosomal dominant 52 ⚠
- p.Gly536Val Multiple submitters intellectual disability, autosomal dominant 52 ⚠
- p.Ile1779Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile2216Val Multiple submitters ⚠
- p.Leu1018Ile Multiple submitters Inborn genetic diseases
- p.Leu1291Met Multiple submitters intellectual disability, autosomal dominant 52
- p.Leu775Phe Multiple submitters intellectual disability, autosomal dominant 52 ⚠
- p.Leu792Val Multiple submitters Inborn genetic diseases
- p.Lys101Arg Multiple submitters Inborn genetic diseases
- p.Lys2377Glu Multiple submitters
- p.Lys721Thr Multiple submitters intellectual disability, autosomal dominant 52
- p.Lys834Glu Multiple submitters Inborn genetic diseases
- p.Lys894Asn Multiple submitters Inborn genetic diseases
- p.Phe2045Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro119Arg Multiple submitters intellectual disability, autosomal dominant 52
- p.Pro1422Ser Multiple submitters intellectual disability, autosomal dominant 52
- p.Pro1470Ser Multiple submitters Inborn genetic diseases
- p.Pro1574Ser Multiple submitters intellectual disability, autosomal dominant 52
- p.Pro2625Thr Multiple submitters intellectual disability, autosomal dominant 52
- p.Pro912Leu Multiple submitters Inborn genetic diseases
- p.Ser1016Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser1613Arg Multiple submitters intellectual disability, autosomal dominant 52
- p.Ser1764Asn Multiple submitters intellectual disability, autosomal dominant 52
- p.Ser1973Phe Multiple submitters intellectual disability, autosomal dominant 52
- p.Ser2304Phe Multiple submitters intellectual disability, autosomal dominant 52 ⚠
- p.Ser661Asn Multiple submitters intellectual disability, autosomal dominant 52
- p.Thr1057Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr1678Ile Multiple submitters intellectual disability, autosomal dominant 52
- p.Tyr2454Cys Multiple submitters ASH1L-related disorder ⚠
- p.Tyr2499Cys Multiple submitters Inborn genetic diseases
- p.Val1133Leu Multiple submitters intellectual disability, autosomal dominant 52
- p.Val550Ala Multiple submitters intellectual disability, autosomal dominant 52
- c.6104-3C>G Single submitter intellectual disability, autosomal dominant 52
- c.6224-3A>T Single submitter intellectual disability, autosomal dominant 52
- c.6539+1G>T Single submitter
- c.7421+6T>C Single submitter intellectual disability, autosomal dominant 52
- c.7981+5G>A Single submitter
- c.7982-10G>A Single submitter
- c.8460+11T>C Single submitter
- c.-3G>C Single submitter
- p.Ala1081Val Single submitter Inborn genetic diseases ⚠
- p.Ala1097Thr Single submitter
- p.Ala111Gly Single submitter Inborn genetic diseases
- p.Ala1150Glu Single submitter
- p.Ala1394Thr Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Ala1437Val Single submitter
- p.Ala1708Val Single submitter ⚠
- p.Ala1736Gly Single submitter intellectual disability, autosomal dominant 52
- p.Ala1736Ser Single submitter
- p.Ala1992Val Single submitter
- p.Ala221Ser Single submitter
- p.Ala225Thr Single submitter
- p.Ala2299Thr Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Ala2437Pro Single submitter
- p.Ala2437Val Single submitter Inborn genetic diseases
- p.Ala2464Gly Single submitter ⚠
- p.Ala2505Thr Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Ala2545Thr Single submitter ⚠
- p.Ala263Thr Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Ala2805Val Single submitter
- p.Ala2855Val Single submitter
- p.Ala2869Thr Single submitter ⚠
- p.Ala2884Asp Single submitter ⚠
- p.Ala2886Val Single submitter Inborn genetic diseases ⚠
- p.Ala295Glu Single submitter
- p.Ala296Ser Single submitter Inborn genetic diseases ⚠
- p.Ala314Val Single submitter Inborn genetic diseases ⚠
- p.Ala428Val Single submitter ⚠
- p.Ala543Thr Single submitter Inborn genetic diseases
- p.Ala689Val Single submitter Inborn genetic diseases
- p.Ala697Gly Single submitter
- p.Ala697Thr Single submitter Inborn genetic diseases ⚠
- p.Ala69Ser Single submitter
- p.Ala794Gly Single submitter
- p.Ala915Val Single submitter
- p.Arg1159Lys Single submitter
- p.Arg1160Trp Single submitter Inborn genetic diseases
- p.Arg1254His Single submitter
- p.Arg1302Gln Single submitter intellectual disability, autosomal dominant 52
- p.Arg1306Gln Single submitter intellectual disability, autosomal dominant 52
- p.Arg1306Leu Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg1350Gly Single submitter ⚠
- p.Arg140Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1448Gln Single submitter
- p.Arg1508Gln Single submitter Inborn genetic diseases
- p.Arg1516Cys Single submitter intellectual disability, autosomal dominant 52
- p.Arg1518Gly Single submitter intellectual disability, autosomal dominant 52
- p.Arg1527Gly Single submitter
- p.Arg1535Cys Single submitter
- p.Arg1535His Single submitter Inborn genetic diseases
- p.Arg1552Thr Single submitter
- p.Arg1624Trp Single submitter
- p.Arg1643Pro Single submitter
- p.Arg1684Gln Single submitter intellectual disability, autosomal dominant 52
- p.Arg1686Lys Single submitter ⚠
- p.Arg1705Gly Single submitter
- p.Arg1720Trp Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg1849Gly Single submitter
- p.Arg1852Gln Single submitter intellectual disability, autosomal dominant 52
- p.Arg1852Pro Single submitter ⚠
- p.Arg200Gln Single submitter ⚠
- p.Arg2132Lys Single submitter Inborn genetic diseases
- p.Arg2144Gln Single submitter ⚠
- p.Arg2182Thr Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg2214Gln Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg2236Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2236Trp Single submitter ⚠
- p.Arg2276Gly Single submitter congenital heart disease ⚠
- p.Arg2350His Single submitter Inborn genetic diseases
- p.Arg2364Gln Single submitter ⚠
- p.Arg2370Cys Single submitter Inborn genetic diseases
- p.Arg2370Leu Single submitter
- p.Arg2397Gln Single submitter ⚠
- p.Arg2421Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2421Gly Single submitter ⚠
- p.Arg2424Trp Single submitter syndromic complex neurodevelopmental disorder
- p.Arg2439His Single submitter intellectual disability, autosomal dominant 52
- p.Arg2439Leu Single submitter
- p.Arg2459Gln Single submitter ⚠
- p.Arg2637Trp Single submitter intellectual disability, autosomal dominant 52
- p.Arg2671Leu Single submitter ⚠
- p.Arg2698Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2719His Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg2730Gly Single submitter
- p.Arg2766Gly Single submitter ⚠
- p.Arg2766Lys Single submitter ⚠
- p.Arg2781Gln Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg2794Gly Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg2796His Single submitter Inborn genetic diseases ⚠
- p.Arg2830Lys Single submitter
- p.Arg2841His Single submitter
- p.Arg2881Leu Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg2912Trp Single submitter Inborn genetic diseases ⚠
- p.Arg2916Trp Single submitter Inborn genetic diseases ⚠
- p.Arg2918Ter Single submitter Inborn genetic diseases
- p.Arg35Lys Single submitter Inborn genetic diseases ⚠
- p.Arg484_Glu486delinsGlnLysLys Single submitter
- p.Arg54Pro Single submitter intellectual disability, autosomal dominant 52
- p.Arg828Gly Single submitter ASH1L-related disorder
- p.Arg890Gly Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Arg898Lys Single submitter intellectual disability, autosomal dominant 52
- p.Arg984His Single submitter intellectual disability, autosomal dominant 52
- p.Arg984Leu Single submitter Inborn genetic diseases
- p.Asn1325Asp Single submitter
- p.Asn133Lys Single submitter Inborn genetic diseases
- p.Asn133Ser Single submitter intellectual disability, autosomal dominant 52
- p.Asn1435Ser Single submitter intellectual disability, autosomal dominant 52
- p.Asn1605Asp Single submitter Inborn genetic diseases
- p.Asn1776Asp Single submitter
- p.Asn1777Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1812Asp Single submitter
- p.Asn1812Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1827Lys Single submitter
- p.Asn1905Thr Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Asn211Lys Single submitter
- p.Asn211Ser Single submitter ⚠
- p.Asn2120Asp Single submitter
- p.Asn2181Ser Single submitter Inborn genetic diseases
- p.Asn2294Tyr Single submitter ⚠
- p.Asn2431Asp Single submitter intellectual disability, autosomal dominant 52
- p.Asn2540Ser Single submitter Inborn genetic diseases ⚠
- p.Asn2934Asp Single submitter Inborn genetic diseases
- p.Asn294Ile Single submitter
- p.Asn320= Single submitter intellectual disability, autosomal dominant 52
- p.Asn320Lys Single submitter Inborn genetic diseases
- p.Asn443Asp Single submitter Inborn genetic diseases
- p.Asn53Ser Single submitter Inborn genetic diseases ⚠
- p.Asn602Lys Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Asn752fs Single submitter
- p.Asn752Ile Single submitter
- p.Asn754Asp Single submitter Inborn genetic diseases
- p.Asn79Asp Single submitter
- p.Asn84Lys Single submitter Inborn genetic diseases
- p.Asn84Ser Single submitter intellectual disability, autosomal dominant 52
- p.Asn999Ser Single submitter Inborn genetic diseases
- p.Asp1194Glu Single submitter intellectual disability, autosomal dominant 52
- p.Asp1258Glu Single submitter
- p.Asp1284Asn Single submitter Inborn genetic diseases
- p.Asp1284His Single submitter
- p.Asp1286Asn Single submitter Inborn genetic diseases
- p.Asp130Gly Single submitter ⚠
- p.Asp1578Asn Single submitter Inborn genetic diseases
- p.Asp1638Glu Single submitter ⚠
- p.Asp1668Gly Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Asp1711His Single submitter Inborn genetic diseases
- p.Asp1715Ala Single submitter
- p.Asp1773Asn Single submitter ASH1L-related disorder
- p.Asp2065Gly Single submitter
- p.Asp2065Tyr Single submitter
- p.Asp2097Asn Single submitter
- p.Asp2106Gly Single submitter
- p.Asp2107Tyr Single submitter ⚠
- p.Asp2398Gly Single submitter
- p.Asp2405Val Single submitter ⚠
- p.Asp2487Gly Single submitter Inborn genetic diseases
- p.Asp2692His Single submitter Inborn genetic diseases
- p.Asp269Asn Single submitter
- p.Asp2758Glu Single submitter ⚠
- p.Asp2807Val Single submitter intellectual disability, autosomal dominant 52
- p.Asp2937Asn Single submitter ⚠
- p.Asp403delinsGlnTrpAspTrpLeuIleSerAsnGly Single submitter
- p.Asp420Val Single submitter Inborn genetic diseases
- p.Asp48Asn Single submitter Inborn genetic diseases
- p.Asp48Tyr Single submitter
- p.Asp64Asn Single submitter
- p.Asp818Val Single submitter intellectual disability, autosomal dominant 52
- p.Asp947Gly Single submitter
- p.Asp961Glu Single submitter
- p.Cys108Arg Single submitter ⚠
- p.Cys1252Tyr Single submitter
- p.Cys136Ser Single submitter intellectual disability, autosomal dominant 52
- p.Cys1680Gly Single submitter intellectual disability, autosomal dominant 52
- p.Cys1680Ser Single submitter Inborn genetic diseases
- p.Cys1775Ser Single submitter Inborn genetic diseases ⚠
- p.Cys1790Tyr Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Cys2195Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys2396Tyr Single submitter ASH1L-related neurodevelopmental disorders
- p.Cys2448Phe Single submitter intellectual disability, autosomal dominant 52
- p.Cys2608Tyr Single submitter ⚠
- p.Cys2763Tyr Single submitter ⚠
- p.Cys440Phe Single submitter Inborn genetic diseases
- p.Cys500Tyr Single submitter Inborn genetic diseases
- p.Cys527Ser Single submitter
- p.Gln1075Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1147Glu Single submitter ASH1L-related disorder
- p.Gln1220Pro Single submitter ⚠
- p.Gln1268Arg Single submitter Inborn genetic diseases
- p.Gln1278Pro Single submitter Inborn genetic diseases
- p.Gln1555Arg Single submitter ⚠
- p.Gln1572Arg Single submitter intellectual disability
- p.Gln1576His Single submitter
- p.Gln158Arg Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Gln158His Single submitter Inborn genetic diseases ⚠
- p.Gln1637Arg Single submitter
- p.Gln1658Arg Single submitter ⚠
- p.Gln168Leu Single submitter ⚠
- p.Gln1859Arg Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Gln1868Pro Single submitter
- p.Gln1871Pro Single submitter
- p.Gln1938Leu Single submitter
- p.Gln2177_Glu2178delinsLeuLeu Single submitter
- p.Gln2266= Single submitter
- p.Gln2596Leu Single submitter Inborn genetic diseases ⚠
- p.Gln433His Single submitter
- p.Gln522Glu Single submitter
- p.Gln603His Single submitter Inborn genetic diseases ⚠
- p.Gln695Arg Single submitter
- p.Glu1074Gly Single submitter
- p.Glu1246Gly Single submitter
- p.Glu1290Asp Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Glu1362Lys Single submitter Inborn genetic diseases
- p.Glu1480Gln Single submitter
- p.Glu170Gly Single submitter Inborn genetic diseases
- p.Glu1725Gly Single submitter
- p.Glu1731Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1881Asp Single submitter ASH1L-related disorder ⚠
- p.Glu1909Ala Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Glu1909Lys Single submitter
- p.Glu1923Lys Single submitter Inborn genetic diseases
- p.Glu1934Val Single submitter intellectual disability, autosomal dominant 52
- p.Glu1937Lys Single submitter Inborn genetic diseases
- p.Glu2116Gly Single submitter ⚠
- p.Glu2148Gln Single submitter Inborn genetic diseases
- p.Glu2148Val Single submitter
- p.Glu2149Asp Single submitter ⚠
- p.Glu2273Gln Single submitter Inborn genetic diseases
- p.Glu2326Gly Single submitter
- p.Glu2706Val Single submitter intellectual disability, autosomal dominant 52 ⚠
- p.Glu2840Asp Single submitter
- p.Glu2877Val Single submitter
- p.Glu38Asp Single submitter ⚠
- p.Glu38Gln Single submitter
- p.Glu593Lys Single submitter
- p.Glu59Lys Single submitter Inborn genetic diseases
- p.Glu756Asp Single submitter intellectual disability, autosomal dominant 52
- p.Gly1012Arg Single submitter intellectual disability, autosomal dominant 52