Sugi Variant

Sugi Variant/MEF2C

MEF2C — 613 ClinVar variants

All ClinVar germline MEF2C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 175 flagged for review →

67 Pathogenic · 8 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 29 Conflicting · 35 Benign · 14 Benign/Likely benign · 209 Likely benign · 204 Uncertain significance

Full MEF2C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 175

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 4

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

Predictors agree, ClinVar conflicts 16

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

Predicted LoF vs a conflicting call 3

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 131

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 21

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

All MEF2C variants

Pathogenic 67

  • c.403-1G>T Multiple submitters autism spectrum disorder
  • c.638-2A>C Multiple submitters Inborn genetic diseases
  • c.638-2A>G Multiple submitters
  • c.965-2A>G Multiple submitters intellectual disability
  • c.-26C>T Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.-8C>T Multiple submitters MEF2C-related disorder
  • p.Arg15Pro Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg17_Gln18insTer Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg256Ter Multiple submitters 5q14.3 microdeletion syndrome
  • p.Asn16Ter Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly27Arg Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu277_Leu278insTer Multiple submitters MEF2C-related disorder
  • p.Leu38Pro Multiple submitters Inborn genetic diseases
  • c.258+1G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.258+2T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.258+2T>G Single submitter
  • c.259-1G>A Single submitter
  • c.402+1G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.403-1G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.55-1G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.637+2T>C Single submitter
  • c.810+1G>A Single submitter intellectual disability
  • c.811_814delTCTG Single submitter
  • c.835-1_835delinsAT Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ala314fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ala32fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asn16Lys Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asn81Asp Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Cys41_Glu42delinsTer Single submitter Inborn genetic diseases
  • p.Gln131Ter Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gln237Ter Single submitter
  • p.Gln280Ter Single submitter
  • p.Gln7Ter Single submitter MEF2C Haploinsufficiency Syndrome
  • p.Glu34Ter Single submitter
  • p.Glu71fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly108fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly202fs Single submitter Inborn genetic diseases
  • p.His174fs Single submitter
  • p.His76fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu303fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu330fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu88Ter Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Lys31del Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Lys68fs Single submitter Inborn genetic diseases
  • p.Pro111fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro190fs Single submitter
  • p.Pro243fs Single submitter
  • p.Pro261fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro294fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser287Ter Single submitter
  • p.Ser334fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr187fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr22fs Single submitter Inborn genetic diseases
  • p.Tyr157fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Tyr216fs Single submitter
  • p.Tyr33Ter Single submitter
  • p.Tyr72fs Single submitter Inborn genetic diseases
  • p.Val274fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val65fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.-66A>T No assertion criteria neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg3Ser No assertion criteria neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asn153fs No assertion criteria neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Glu74Ter No assertion criteria neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly27Ala No assertion criteria neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly310fs No assertion criteria
  • p.Leu38Gln No assertion criteria neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser228Ter No assertion criteria neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Pathogenic/Likely pathogenic 8

  • c.401_402+2del Multiple submitters Inborn genetic diseases
  • c.638-1G>A Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg15Cys Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg15His Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg189Ter Multiple submitters Inborn genetic diseases
  • p.Arg24Lys Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu35Pro Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Met1Thr Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Likely pathogenic 47

  • c.258+1G>T Single submitter
  • c.258+5G>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.402+146C>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.402+184del Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.54+1del Single submitter MEF2C-related disorder
  • c.637+1G>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.637+1G>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.810+2T>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.810+2T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.835-2A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.-143+4180_-143+4193del Single submitter frontotemporal dementia
  • c.-143+5G>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg401Cys Single submitter ⚠
  • p.Arg79Pro Single submitter
  • p.Asn52fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gln286Ter Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gln365His Single submitter ⚠
  • p.Glu86= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly27Glu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.His109fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ile6Asn Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ile6fs Single submitter MEF2C-related disorder
  • p.Ile8Leu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu303Ter Single submitter
  • p.Leu35Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu45Pro Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Lys23Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Lys30Thr Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Lys5fs Single submitter
  • p.Lys5Ter Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Met244fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Met29Ile Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro101Thr Single submitter autism spectrum disorder ⚠
  • p.Ser36Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser36Asn Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser36Gly Single submitter
  • p.Ser59Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ter474Arg Single submitter intellectual disability
  • p.Thr20Lys Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr20Ser Single submitter Inborn genetic diseases
  • p.Thr370Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Tyr33Asp Single submitter
  • p.Tyr57Cys Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val65Gly Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gln178Ter No assertion criteria neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr22Arg No assertion criteria Epileptic encephalopathy
  • p.Tyr72Ter No assertion criteria neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Conflicting classifications of pathogenicity 29

  • c.402+75G>T Single submitter
  • c.811-9T>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.-143+4144CCT[6] Single submitter
  • p.Ala103Val Single submitter Inborn genetic diseases ⚠
  • p.Ala339Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala341Thr Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Arg220Ter Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asn195= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asp203= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.His343Gln Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.His444= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ile259Val Single submitter Inborn genetic diseases ⚠
  • p.Ile447Thr Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ile46Asn Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Leu177= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu232Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Leu380Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Met1Ile Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Met1Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Met244Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro160= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro253= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser163= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser327Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser332Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr403Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr412Met Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Val186Ala Single submitter Inborn genetic diseases ⚠
  • p.Val37Met Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠

Benign 35

  • c.1100+6C>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.258+155T>G Single submitter
  • c.402+208A>G Single submitter
  • c.403-139A>G Single submitter
  • c.403-211A>G Single submitter
  • c.590-95G>T Single submitter
  • c.638-14dup Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.810+191dup Single submitter
  • c.810+199T>A Single submitter
  • c.810+268C>T Single submitter
  • c.811-290T>C Single submitter
  • c.834+182del Single submitter
  • c.-142-333_-142-332insAG Single submitter
  • c.-143+4144CCT[5] Single submitter
  • c.-143+4144CCT[8] Single submitter
  • c.-143+4248dup Single submitter
  • c.-143+6T>C Single submitter
  • c.-143+89A>G Single submitter
  • c.-209T>C Single submitter
  • c.-239-236T>C Single submitter
  • c.-42T>C Single submitter
  • c.*3046G>A Single submitter
  • c.*32del Single submitter
  • p.Asn180Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asp125Glu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Gly197Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.His444Pro Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ile147Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu363Phe Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu449Phe Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro167Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr321= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val107Ile Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val462Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val85Leu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠

Benign/Likely benign 14

  • c.258+10C>T Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.402+16A>G Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.638-9del Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.811-12G>A Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.811-13C>T Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.834+15C>T Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.965-6_965-2del Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.-143+4247_-143+4248dup Multiple submitters
  • c.-510_-498del13 Multiple submitters
  • c.*16C>G Multiple submitters
  • p.Asn121= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asn214= Multiple submitters Inborn genetic diseases
  • p.Asp104= Multiple submitters Inborn genetic diseases
  • p.Thr60= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Likely benign 209

  • c.258+7G>C Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.402+104C>T Multiple submitters
  • c.402+18C>T Multiple submitters
  • c.402+46T>C Multiple submitters
  • c.402+71G>A Multiple submitters
  • c.54+13A>T Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.589+57A>C Multiple submitters
  • c.638-14T>C Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.810+10A>T Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.810+14A>G Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.811-14C>T Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.834+16G>A Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.965-11C>T Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ala103= Multiple submitters Inborn genetic diseases
  • p.Ala362= Multiple submitters
  • p.Ala44= Multiple submitters
  • p.Arg24= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly215= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.His152= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu291= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Phe141= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro190= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro260= Multiple submitters Inborn genetic diseases
  • p.Ser287= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser340= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser406= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr205= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr87= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr9= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val274= Multiple submitters Inborn genetic diseases
  • p.Val37= Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.1100+10A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.1100+111T>C Single submitter
  • c.1100+145T>C Single submitter
  • c.1100+17T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.1100+18T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.1101-20G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.1101-254C>T Single submitter
  • c.258+13_258+14delinsAT Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.258+14C>G Single submitter
  • c.258+14C>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.258+35G>T Single submitter
  • c.258+7G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.258+9G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.258+9G>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.259-16A>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.259-17C>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.259-19T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.402+11A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.402+152A>G Single submitter
  • c.402+19del Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.402+53C>T Single submitter
  • c.402+62A>G Single submitter
  • c.402+8C>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.402+9T>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.403-14T>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.403-8T>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.54+11T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.54+12A>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.54+13A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.54+16T>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.54+173A>G Single submitter
  • c.54+7G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.54+8G>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.54+9A>C Single submitter
  • c.55-14T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.55-15C>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.55-45G>A Single submitter
  • c.55-9T>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.589+16G>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.589+19G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.590-15C>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.590-20T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.590-4A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.590-9A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.637+19C>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.637+9A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.638-11T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.638-15G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.638-7T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.810+13T>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.811-17C>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.811-267del Single submitter
  • c.811-5C>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.811-6T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.834+13A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.834+7G>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.835-10_835-7del Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.835-15_835-11dup Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.835-20C>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.964+15C>T Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.964+23A>G Single submitter
  • c.965-10T>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.965-11C>G Single submitter
  • c.965-15T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.965-19_965-17del Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.965-6A>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.-143+11C>T Single submitter
  • c.-143+17T>A Single submitter
  • c.-143+4177C>T Single submitter
  • c.-143+4179T>C Single submitter
  • c.-1T>C Single submitter
  • c.-207C>T Single submitter
  • c.-207CT[7] Single submitter
  • c.-43A>T Single submitter
  • c.-510T>C Single submitter
  • p.Ala135= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ala193= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ala288= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ala292= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ala339= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ala472= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg10= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg118= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg17= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg189= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg189Gln Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg256= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg401= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg413= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg436= Single submitter Inborn genetic diseases
  • p.Arg451= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg464= Single submitter
  • p.Arg466= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg79= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asn233= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asn250= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asn337= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asn73= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asn81= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asp100= Single submitter Inborn genetic diseases
  • p.Asp102= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asp123= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asp125= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asp432= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asp83= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gln178= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gln351= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gln352= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gln56= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly213= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly217= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly230= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly335= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly433= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.His174= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.His373= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.His411= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ile43= Single submitter
  • p.Ile447= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ile84= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu133= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu155= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu164= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu170= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu172= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu199= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu204= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu204Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu258His Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Leu330= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu333= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu344Phe Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu35= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Leu467= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Lys68= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro101= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro167= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro219= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro243= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro243Gln Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro312= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro452Thr Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Pro460= Single submitter
  • p.Pro75= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser106= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser150= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser176Tyr Single submitter
  • p.Ser285= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser297= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser334= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser346= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser36= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser430= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser434= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser453= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser459= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser459Gly Single submitter
  • p.Ser461= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser78= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr22= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr266= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr300= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr338= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr412= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr51= Single submitter
  • p.Thr70= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Tyr157= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Tyr323Asn Single submitter Seizure ⚠
  • p.Tyr33= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Tyr431Ter Single submitter
  • p.Val107= Single submitter Inborn genetic diseases
  • p.Val149= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val161= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val296Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Val347= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val65= Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val65Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.-493_-491delCTC No assertion criteria MEF2C-related disorder

Uncertain significance 204

  • p.Ala362Ser Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ala416Val Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asp115Glu Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Gln376His Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Gly185Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly2Arg Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.His76Arg Multiple submitters MEF2C-related disorder ⚠
  • p.Ile147Ser Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Lys116Glu Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Lys5Asn Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Met12Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro137Ala Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro219Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro446Arg Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser287Leu Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser331Leu Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser428Asn Multiple submitters neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • c.1100+1769A>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.1100+3A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.1101-3C>T Single submitter
  • c.258+20G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.258+3G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.258+4A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.402+106A>G Single submitter
  • c.402+112C>G Single submitter
  • c.402+138G>T Single submitter
  • c.402+145A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.402+147A>G Single submitter MEF2C-related complex neurodevelopmental disorder
  • c.402+153dup Single submitter
  • c.402+162G>T Single submitter
  • c.402+163A>G Single submitter MEF2C-related disorder
  • c.402+196C>T Single submitter
  • c.402+5del Single submitter
  • c.54+1G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.54+5G>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.54+6T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.55-3T>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.589+6T>A Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.589+8del Single submitter
  • c.590-3T>C Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.590-8A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.638-4A>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.965-11C>A Single submitter
  • c.-142-25787T>G Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • c.-143+1G>T Single submitter
  • c.-143+4248del Single submitter
  • c.-208del Single submitter frontotemporal dementia
  • c.*115del Single submitter
  • p.Ala103Glu Single submitter
  • p.Ala173Thr Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ala208Thr Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ala299Val Single submitter Inborn genetic diseases
  • p.Ala314Gly Single submitter ⚠
  • p.Ala314Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ala341Val Single submitter ⚠
  • p.Ala44Glu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ala44Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ala472Glu Single submitter ⚠
  • p.Arg15Gly Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Arg179Ser Single submitter ⚠
  • p.Arg17Gly Single submitter ⚠
  • p.Arg17Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg189Leu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Arg24Gly Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Arg251Cys Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Arg251His Single submitter ⚠
  • p.Arg256Gln Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Arg401His Single submitter ⚠
  • p.Arg436Ter Single submitter
  • p.Arg440Gln Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Arg464Pro Single submitter ⚠
  • p.Arg89Lys Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asn195Asp Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asn249His Single submitter ⚠
  • p.Asn249Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asn379His Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asn73del Single submitter
  • p.Asn94Asp Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asp102His Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asp104Glu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asp105Asn Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asp105Glu Single submitter ⚠
  • p.Asp275Asn Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asp275His Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asp40_Cys41dup Single submitter
  • p.Asp40Gly Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asp432fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Asp432Glu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Asp83Val Single submitter Inborn genetic diseases ⚠
  • p.Cys39Arg Single submitter ⚠
  • p.Cys41Arg Single submitter ⚠
  • p.Cys96Gly Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Gln18Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Gln289Pro Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Gln56His Single submitter ⚠
  • p.Gln7His Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Glu14Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu14Lys Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Glu322Lys Single submitter ⚠
  • p.Glu415Gln Single submitter ⚠
  • p.Glu42Asp Single submitter ⚠
  • p.Glu456Asp Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Glu456Ter Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Gly197Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Gly198Cys Single submitter ⚠
  • p.Gly198Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Gly209Val Single submitter ⚠
  • p.Gly307Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Gly367Glu Single submitter
  • p.Gly433_Ser434dup Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.His174Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.His188Tyr Single submitter ⚠
  • p.His373Tyr Single submitter ⚠
  • p.His439Gln Single submitter ⚠
  • p.Ile11Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ile43Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ile447Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ile6Ser Single submitter ⚠
  • p.Ile6Thr Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ile8Phe Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Leu133Phe Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Leu199Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Leu225= Single submitter
  • p.Leu276Val Single submitter ⚠
  • p.Leu28Val Single submitter ⚠
  • p.Leu380His Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Leu380Ile Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Leu54= Single submitter
  • p.Leu54Pro Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Leu66Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Lys30Asn Single submitter ⚠
  • p.Lys31Asn Single submitter ⚠
  • p.Lys31Glu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Lys4Thr Single submitter ⚠
  • p.Met182Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Met267Thr Single submitter Inborn genetic diseases
  • p.Met267Val Single submitter ⚠
  • p.Met358Val Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Met465Leu Single submitter ⚠
  • p.Met62Ile Single submitter ⚠
  • p.Phe141Leu Single submitter ⚠
  • p.Pro138His Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro139Ser Single submitter ⚠
  • p.Pro144Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro160Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro171Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro175Leu Single submitter ⚠
  • p.Pro219Leu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro229Leu Single submitter ⚠
  • p.Pro229Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro229Thr Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro242Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro253Gln Single submitter
  • p.Pro261Ser Single submitter MEF2C-related disorder ⚠
  • p.Pro359Thr Single submitter ⚠
  • p.Pro360Arg Single submitter
  • p.Pro405Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro409Ala Single submitter ⚠
  • p.Pro409Gln Single submitter ⚠
  • p.Pro420Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro446Leu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Pro454Thr Single submitter ⚠
  • p.Ser129Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser154Ile Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser181Cys Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser181Gly Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser192Arg Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser222Pro Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser263Ile Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser326Gly Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser346Leu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser375= Single submitter
  • p.Ser378Ter Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser381Phe Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser392Pro Single submitter ⚠
  • p.Ser434Asn Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser445Pro Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Ser459fs Single submitter
  • p.Ser461Ter Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Ser468Phe Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Thr187Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Thr205fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr205Met Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Thr20Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Thr20Ile Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Thr210fs Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Thr266Ala Single submitter ⚠
  • p.Thr318Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Thr321Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr372Ile Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Thr403Ser Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Thr404Asn Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Thr9Met Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Trp471Ter Single submitter
  • p.Tyr216Cys Single submitter ⚠
  • p.Tyr319Ser Single submitter Inborn genetic diseases
  • p.Tyr69Phe Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Val107Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Val149Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Val257Leu Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • p.Val298Ile Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • p.Val37Ala Single submitter neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ⚠
  • c.402+154T>A No assertion criteria MEF2C-related disorder
  • p.Thr51Ile No assertion criteria intellectual deficiency ⚠