Sugi Variant

Sugi Variant/PIGN

PIGN — 1301 ClinVar variants

All ClinVar germline PIGN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 392 flagged for review →

80 Pathogenic · 29 Pathogenic/Likely pathogenic · 66 Likely pathogenic · 33 Conflicting · 82 Benign · 25 Benign/Likely benign · 543 Likely benign · 443 Uncertain significance

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

⚑ Evidence disagreements 392

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 23

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

Predictors lean, ClinVar uncertain 301

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 301

Predictors split 67

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

All PIGN variants

Pathogenic 80

  • c.1674+1G>C Multiple submitters PIGN-related disorder
  • p.Arg221Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg709Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg777Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gln169Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gln299Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Glu240Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Glu61Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly800fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu210Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Lys232Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Lys647fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp506Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr780Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1172+1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1767+1del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1859+3A>G Single submitter
  • c.2180+1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.221+1dup Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.329_549+1907del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ala496fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ala577fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg641_Lys642insTer Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg641Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg676fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asn65fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asn808fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gln656Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Glu201Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Glu202fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Glu416fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly212_Ile213insTer Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly554Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly828Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly883fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu306fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu549fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu674fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu710fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu751fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu9fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Lys147Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Lys356Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Lys378Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Lys761Asn Single submitter ⚠
  • p.Phe185fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Phe207fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Phe385fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Phe4fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Phe822fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ser270Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ser535Ter Single submitter Fetal anomalies with a likely genetic cause
  • p.Ser702fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ser716Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ser814fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ser859fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Thr215fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Thr573fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp116Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp177Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp314Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp454Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp578fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp833Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp885fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr106Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr511Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr539fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr539Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr564fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr60Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr668_Ser669delinsTer Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr668Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Val534fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Val557Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Val815fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.324_549+196del No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.329_549+1908del No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asp252Val No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ile141fs No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 1

Pathogenic/Likely pathogenic 29

  • c.1251+1G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1252-2A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1434+5G>A Multiple submitters PIGN-related disorder
  • c.1675-1G>T Multiple submitters Inborn genetic diseases
  • c.2284-1G>C Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-1G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2672+1G>T Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.548_549+6del Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome
  • p.Ala273fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg55Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg587Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg613Ter Multiple submitters Inborn genetic diseases
  • p.Arg709Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg95Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg95Trp Multiple submitters Inborn genetic diseases
  • p.Gln321= Multiple submitters PIGN-related disorder
  • p.Glu164fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Glu201fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly800Glu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ile746fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu311Trp Multiple submitters Inborn genetic diseases
  • p.Leu420fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu499fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Lys397Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Met328fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp268Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp286Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp519Ter Multiple submitters PIGN-related disorder
  • p.Tyr155Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1

Likely pathogenic 66

  • c.1434_1434+1delinsAA Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1574+1G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1674+1G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.222-1G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2370+1G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.674+1G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.806-4_808del Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.963+1G>T Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg785His Multiple submitters Inborn genetic diseases
  • p.His218Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp689Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Val698del Multiple submitters Inborn genetic diseases
  • c.1023+1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1116+1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1117-1G>A Single submitter
  • c.1172+5G>C Single submitter
  • c.1434+1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1574+1G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1860-1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2077+2T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2180+1G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2181-2A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.222-11A>G Single submitter Inborn genetic diseases
  • c.2271_2283+1del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2371-1G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2371-1G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2371-2A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2426+1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2426+1G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2426+2T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-1G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2502+1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2502+1G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2503-2A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2577-1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-2A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.328_549+1908del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.329_549+1904del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.343+1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.343+2T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.344-1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.344-1G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.344-2A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.674+2T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.675-1G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.675-2A>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.805+1G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.805+2T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.806-1G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.806-2A>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.922+2T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.923-12T>A Single submitter
  • c.923-1G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.923-1G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.923-6T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.963+2T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asp252Gly Single submitter
  • p.Gln370Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gln760Ter Single submitter PIGN-related disorder
  • p.His482fs Single submitter
  • p.Leu402_Arg403delinsTer Single submitter
  • p.Phe732fs Single submitter PIGN-related disorder
  • p.Ser868Ter Single submitter
  • p.Thr507fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Trp136Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1

Conflicting classifications of pathogenicity 33

  • c.2620-38A>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ala458Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg45del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg565Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln502Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Glu122Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu164Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Glu476Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly148Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His188Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His263Asn Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His466Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile324Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile332Met Single submitter Abnormal brain morphology ⚠
  • p.Ile746Arg Single submitter PIGN-related disorder
  • p.Ile804Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ile85Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile867Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu368Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu54Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu650Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu865= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Lys475Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys589= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Pro505Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ser359Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ser688Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ser859Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ser893Arg Single submitter PIGN-related disorder ⚠
  • p.Ser928Asn Single submitter Inborn genetic diseases ⚠
  • p.Val445Ile Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Val620= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Val866Ile Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠

Benign 82

Benign/Likely benign 25

  • c.1023+18A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1116+12del Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1116+12dup Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1117-1= Multiple submitters History of neurodevelopmental disorder
  • c.1117-5C>T Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+11C>T Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2503-14T>C Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2577-13dup Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2619+14G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-17_2620-16dup Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-17dup Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-5del Multiple submitters Inborn genetic diseases
  • c.922+13_922+16del Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.963+11C>T Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.964-20T>C Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ala56Val Multiple submitters Inborn genetic diseases
  • p.Arg583Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.His153= Multiple submitters Inborn genetic diseases
  • p.His229Asp Multiple submitters Inborn genetic diseases
  • p.His247= Multiple submitters Inborn genetic diseases
  • p.Ile746Met Multiple submitters Inborn genetic diseases
  • p.Leu674= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Pro71= Multiple submitters Inborn genetic diseases
  • p.Thr176= Multiple submitters Inborn genetic diseases
  • p.Tyr539= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1

Likely benign 543

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

  • c.1024-137A>T Multiple submitters
  • c.1117-10T>C Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+7A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1434+11A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1575-69C>A Multiple submitters
  • c.1675-8A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1860-12A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1968+19A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1968+7T>C Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2077+63T>G Multiple submitters
  • c.2078-17G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2283+12A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2576+134T>C Multiple submitters
  • c.2620-17_2620-15dup Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.549+58G>A Multiple submitters
  • c.805+16A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.922+16T>C Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.922+75A>G Multiple submitters
  • c.963+12G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.*125A>G Multiple submitters
  • p.Ala219= Multiple submitters Inborn genetic diseases
  • p.Ala304= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ala623= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg406= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg587= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asn216= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asn468= Multiple submitters Inborn genetic diseases
  • p.Asp184= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asp235= Multiple submitters Inborn genetic diseases
  • p.Asp531= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gln294= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gln671= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gln708= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.His188= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.His466= Multiple submitters Inborn genetic diseases
  • p.Ile804Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu601= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu662= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu680= Multiple submitters Inborn genetic diseases
  • p.Leu701= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu860= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu908= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu911= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Lys642= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Met664Ile Multiple submitters Inborn genetic diseases
  • p.Phe16= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Phe248= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Phe49= Multiple submitters Inborn genetic diseases
  • p.Ser223= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ser224= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ser297= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ser856= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Thr569= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Thr573= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Thr917= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr132= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Tyr157= Multiple submitters Inborn genetic diseases
  • p.Tyr457= Multiple submitters Inborn genetic diseases
  • p.Tyr816= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Val296= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1023+15T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1023+19T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1023+19T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1023+253A>G Single submitter
  • c.1024-10T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1024-16T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1024-17G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1024-8A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1116+11A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1116+16A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1116+9A>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1117-15A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1117-15A>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1117-16C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1117-18T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1117-19T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1117-20T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1117-6del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1117-8G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1172+147A>G Single submitter
  • c.1172+17_1172+18insATTTA Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1172+9C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+11C>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+12G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+14C>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+17T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+185dup Single submitter
  • c.1251+18A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+19T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+201del Single submitter
  • c.1251+7A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+8_1251+9insTGTC Single submitter
  • c.1252-15G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1252-17A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1252-18T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1252-19A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1252-20T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1252-21AT[2] Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1252-8C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1434+10G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1434+12A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1434+14A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1435-13_1435-10del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1435-16T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1435-19G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1435-9A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1574+10G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1574+11C>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1574+12A>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1574+13T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1574+14C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1574+18C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1574+9T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1575-11A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1575-17C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1575-23_1575-20del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1575-50C>G Single submitter
  • c.1575-91T>G Single submitter
  • c.1674+11T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1674+15A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1674+8A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1674+9C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1675-5A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1675-9C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1767+14T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1767+16T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1767+18G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1767+19A>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1768-246T>C Single submitter
  • c.1859+11T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1859+13T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1859+20T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1859+241C>A Single submitter
  • c.1859+247dup Single submitter
  • c.1859+8T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1859+9A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1860-14G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1860-17A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1860-18A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1860-19T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1860-20T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1860-8C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1968+8A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1968+9C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1969-13T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1969-15C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1969-15C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1969-18T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1969-19A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1969-20dup Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1969-4T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1969-6C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1969-7T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1969-8G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2077+11A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2077+14C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2077+20A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2077+313T>G Single submitter
  • c.2077+54A>T Single submitter
  • c.2077+9C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2078-15T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2078-173G>A Single submitter
  • c.2078-17G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2078-18del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2078-19C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2078-4G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2078-7A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2180+11T>C Single submitter
  • c.2180+12T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2180+20T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2180+66T>G Single submitter
  • c.2180+8C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2180+8C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2181-10_2181-7del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2181-11C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2181-11C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2181-12C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2181-13C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2181-17C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2181-20T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2181-38T>C Single submitter
  • c.2181-4T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2181-70A>G Single submitter
  • c.221+14C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.221+16G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.221+17A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.221+19A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.221+7A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.221+9G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.222-12A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.222-13T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.222-17T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.222-4T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.222-9A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2283+15T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2283+18T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2283+8G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2284-15C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2284-16T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2284-18T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2284-9A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2370+10G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2370+10G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2370+11T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2370+13G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2370+16A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2371-16C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2371-17T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2371-6C>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2426+13G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2426+20G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2426+49A>G Single submitter
  • c.2426+7T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-10A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-11T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-12A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-15G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-239G>A Single submitter
  • c.2427-4C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2502+10C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2502+13A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2502+14T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2502+180A>T Single submitter
  • c.2502+19T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2502+9T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2503-11T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2503-12G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2503-15A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2503-19A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2503-305T>C Single submitter
  • c.2503-4A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2503-8T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2576+12T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2576+14_2576+17del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2576+17T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2576+18A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2576+20G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2577-13T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2577-14_2577-13del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2577-15T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2577-4_2577-3insA Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2577-4C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2577-6T>C Single submitter
  • c.2619+12C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2619+13T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2619+14G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2619+156del Single submitter
  • c.2619+15G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2619+17T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2619+20T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2619+46G>T Single submitter
  • c.2619+7C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-14T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-18C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-19C>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-19C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-20G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-6_2620-5insTC Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2672+10A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2672+13T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2672+16del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2672+7T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2672+8A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2673-113C>T Single submitter
  • c.2673-16T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2673-20A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2673-8T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.343+10A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.343+14G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.343+16A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.344-18C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.344-19G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.344-19G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.344-19G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.344-5T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.442+11C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.442+12T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.442+16T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.442+16T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.442+17A>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.442+18T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.442+9C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.443-10T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.443-20T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.443-247C>T Single submitter
  • c.443-6T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.443-7T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.443-7T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.443-8C>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.549+16T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.549+19T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.550-11G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.550-15A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.550-18C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.550-250G>A Single submitter
  • c.550-4G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.550-5T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.550-6A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.550-7T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.550-8A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1

Uncertain significance 443

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

  • c.2283+3A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-16T>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ala100Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala17Thr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala43Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala521Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala570Thr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala805Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala829Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala829Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg295Ile Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg565Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg565His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg777Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg89Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asn246Tyr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asn313Thr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asn320Ser Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asn446Ser Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp170Gly Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp57Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Cys738Tyr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Cys758Arg Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Cys923Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gln294Arg Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gln299Arg Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gln370His Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gln656Arg Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Glu240Val Multiple submitters Inborn genetic diseases ⚠
  • p.Glu556Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly217Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly237Arg Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly250Glu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly444Asp Multiple submitters Inborn genetic diseases ⚠
  • p.His426Asn Multiple submitters Inborn genetic diseases ⚠
  • p.His426Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His874Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ile455Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile455Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile463Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile470Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile744Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile773Thr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile804Thr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile903Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu126Pro Multiple submitters Neurodevelopmental delay ⚠
  • p.Leu39Phe Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu460Ser Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu549Ser Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu629Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu662Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu662Pro Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu723Phe Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Lys589Arg Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Met621Lys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Met78Thr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Met826Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe15Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe186Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe196Ser Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Phe259Ser Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Phe399Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Phe562Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Phe707Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Phe767Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Phe907Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Pro335Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Pro606Ala Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Pro609Leu Multiple submitters Inborn genetic diseases
  • p.Pro71Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser158Ile Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ser261Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser481Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser637Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser673Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser814Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser856Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser900Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Thr176Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr285Ile Multiple submitters PIGN-related disorder ⚠
  • p.Thr285Pro Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Thr382Asn Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Thr763Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr916Ala Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Thr916Ile Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Thr917Met Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Trp177Arg Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Tyr106Ser Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Tyr155Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr249Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Tyr438His Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Tyr457Asp Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Tyr566Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr566His Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Tyr816Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Tyr882fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Val154Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val296Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Val373Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val417Met Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Val473Ala Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Val473Ile Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Val477Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Val47Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Val510Ile Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Val534Ile Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Val620Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val635Ile Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Val697Phe Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Val698Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val735Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val742Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val840Ala Multiple submitters Inborn genetic diseases ⚠
  • c.1023+3A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1116+3A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+5_1251+6insGCTATTTAT Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1251+6_1251+7delinsCTATTTATGTC Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1252-7T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1434+4C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1575-4A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1675-4C>G Single submitter
  • c.1859+4T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.1859+6A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2078-3C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2180+6A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2371-7C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-14T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-17T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2427-9A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2502+5G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2503-3C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2576+3A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2576+5G>A Single submitter
  • c.2619+5G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2619+87G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2620-3C>A Single submitter
  • c.2672+3A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.2672+4T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.549+5G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.550-10T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.805+3del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.922+97A>G Single submitter
  • c.963+5C>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.963+5C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • c.963+6C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ala146Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala161Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala171Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala189Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala304Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala304Val Single submitter Inborn genetic diseases ⚠
  • p.Ala364Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala405_Arg406delinsThrValLeu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ala405Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala405Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala43Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala490Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala496Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala503Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala503Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala550Thr Single submitter ⚠
  • p.Ala56Thr Single submitter ⚠
  • p.Ala577Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala690Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala787Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala797Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Ala813Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala813Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala829Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ala872Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg221Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg221Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg225_Asp226insGlnPheCysThrIle Single submitter
  • p.Arg295Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg403Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg406Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg440Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg45Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg583Leu Single submitter ⚠
  • p.Arg583Trp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg587Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg587Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg69Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg709Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg74= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Arg785Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Arg921fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asn191Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn216Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asn313His Single submitter Inborn genetic diseases ⚠
  • p.Asn350Ser Single submitter ⚠
  • p.Asn351Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asn351Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asn446His Single submitter Inborn genetic diseases ⚠
  • p.Asn468Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn67Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asn67Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asn770Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asn803Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asn808= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Asp108Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp124Asn Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp124Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp140Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp160Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp236del Single submitter
  • p.Asp252Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp302Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp303Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp318Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp347Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp395Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp531Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp63His Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp643Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Asp869Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Cys421Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Cys757Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gln294Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gln366Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gln530Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gln656= Single submitter
  • p.Gln748Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gln850Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln854fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gln913Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Glu122Ala Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Glu122Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Glu201Asp Single submitter ⚠
  • p.Glu201Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Glu202Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Glu240Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Glu416Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu61Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Glu648Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly104Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly253Trp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly269Ser Single submitter ⚠
  • p.Gly269Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly450Ser Single submitter ⚠
  • p.Gly472Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly472Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly546Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly612Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly622Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly624Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly755Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly802Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly84Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly883Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly889Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Gly924fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Gly924Ser Single submitter Inborn genetic diseases ⚠
  • p.His153Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His188Asn Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His188Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His209Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His209Tyr Single submitter Inborn genetic diseases ⚠
  • p.His220Arg Single submitter Inborn genetic diseases ⚠
  • p.His229Arg Single submitter Inborn genetic diseases ⚠
  • p.His263Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His482Arg Single submitter ⚠
  • p.His543Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His653Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His79Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His79Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.His98Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile204Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile258Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile332Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile401Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile462Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile491Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile518Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile686Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile687Asn Single submitter ⚠
  • p.Ile713Met Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile765Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Ile863Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile870Val Single submitter Inborn genetic diseases ⚠
  • p.Ile888Thr Single submitter ⚠
  • p.Ile892Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu174= Single submitter
  • p.Leu2Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu354Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu383Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu427Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu560Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu607Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu655Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu655Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1
  • p.Leu680Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu682Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu700Pro Single submitter Inborn genetic diseases
  • p.Leu731Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu731Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu739Trp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu751Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 1 ⚠
  • p.Leu781Gln Single submitter ⚠
  • p.Leu790Val Single submitter ⚠